MGD

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Back Index Contents
Management Guidelines
Developmental Disability
Back Index Contents
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Management Guidelines: Developmental Disability
Back Index Contents
Management Guidelines
Version 3, 2012
Developmental Disability
Therapeutic Guidelines Limited, Melbourne
Back Index Contents
Copyright 2012 Terapeutic Guidelines Limited
All rights reserved. Apart from any fair dealing for the purpose
of private study, criticism or review as permitted under the
Copyright Act 1968, no part of this publication may be
reproduced, stored in a retrieval system, scanned or transmitted
in any form without the permission of the copyright owner.
Suggested citation:
Terapeutic Guidelines Limited. Management guidelines:
developmental disability. Version 3. Melbourne: Terapeutic
Guidelines Limited; 2012.
First published 1999
Version 2 2005
Version 3 2012
Publisher and distributor:
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Ground Floor, 473 Victoria Street
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ISBN 978-0-9808253-5-0
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Contents
How to use this ebook .....................................................................ii
Tables and boxes ...............................................................................x
How Management Guidelines: Developmental
Disability, version 3 was prepared ............................................... xii
Contributors ...................................................................................xiv
Acknowledgments ...................................................................... xviii
Endorsements .................................................................................xx
Board of directors of TGL ............................................................xxi
Chapters
Developmental disability and health care .....................................1
Te doctor as advocate ..................................................................10
Communicating with a person with developmental
disability ...........................................................................................15
General practice consultation .......................................................29
Legal concerns ................................................................................38
Informing parents of their childs disability ................................50
Assessing developmental delay and disability ............................57
Managing a child with developmental disability .......................70
Managing an adolescent with developmental disability ...........79
Adult health care ............................................................................95
Aged care .......................................................................................112
Womens health .............................................................................130
Mens health ...................................................................................142
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Preventive health care and health promotion ..........................145
Challenging behaviour: assessment and management ............148
Challenging behaviour: drugs ....................................................165
Psychiatric disorders: assessment ...............................................175
Psychiatric disorders: management ...........................................187
Epilepsy and seizures ...................................................................210
Nutritional disorders....................................................................220
Dysphagia ......................................................................................230
Oral health .....................................................................................240
Sexual expression .........................................................................244
Angelman syndrome ....................................................................250
Autism spectrum disorder ..........................................................255
Cerebral palsy ...............................................................................266
Down syndrome ...........................................................................283
Fetal alcohol syndrome ................................................................295
Fragile X syndrome ......................................................................301
Neurofbromatosis type 1 ............................................................314
Noonan syndrome ........................................................................321
Prader-Willi syndrome ................................................................326
Rett syndrome ...............................................................................338
Tuberous sclerosis ........................................................................344
Williams syndrome ......................................................................350
Disability resources ......................................................................355
Appendices
Index ..............................................................................................364
Request for comment on guidelines ..........................................374
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Tables and boxes
Tables
Table 1. Causes of developmental disability ...............................60
Table 2. Normal development in children ..................................61
Table 3. Manifestations of developmental delay .........................62
Table 4. Features of history when establishing cause and
developmental pattern of a disability ............................64
Table 5. Useful referrals when assessing developmental
delay and disability ..........................................................67
Table 6. Interventions to minimise developmental problems ..72
Table 7. Checklist of health and social concerns in an
adolescent with developmental disability .....................81
Table 8. Pubertal disorders associated with developmental
disability or other conditions .........................................84
Table 9. Health care checklist for an adult with
developmental disability .................................................97
Table 10. Diferential diagnosis of functional decline
in Down syndrome ......................................................121
Table 11. Checklist for assessing and managing challenging
behaviour ......................................................................153
Table 12. Questions to guide a history of challenging
behaviour ......................................................................155
Table13. Individualised data sheet for monitoring
challenging behaviour (example) ..............................159
Table 14. Risk factors for psychiatric disorder in people
with developmental disability ....................................176
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Table 15. Observable features of depression in people with
developmental disability .............................................182
Table 16. Observable features of hypomania and mania in
people with developmental disability ........................184
Table 17. Clinical characteristics of Angelman syndrome ......252
Table 18. Recommended health monitoring for children
with Down syndrome ..................................................292
Table 19. Diagnosis of tuberous sclerosis ..................................345
Boxes
Box 1. Information needed when assessing a person with
developmental disability ...................................................33
Box 2. Common conditions in older people with
developmental disability .................................................115
Box 3. Questions before prescribing psychotropic drugs
to manage challenging behaviour ..................................166
Box 4. Investigations to consider in psychiatric assessment
of a person with developmental disability ....................177
Box 5. Obtaining collateral information in psychiatric
assessment of a person with developmental
disability ............................................................................178
Box 6. History of presenting complaint in psychiatric
disability ............................................................................179
Box 7. Key points when using psychotropic drugs in a
person with developmental disability ...........................192
Box 8. Indicators of Lennox Gastaut syndrome .......................213
Box 9. Decision-making framework for assessing and
managing a person with dysphagia ...............................238
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How Management
Guidelines: Developmental
Disability, version 3 was
prepared
Management Guidelines: Developmental Disability, version 3
(DDG3) has been prepared in a diferent way from other
Terapeutic Guidelines Limited (TGL) titles (see eTG complete
for a description of that process).
A TGL editor, Dr Susie Rogers, was responsible for managing
this project and editing the book.
Professor Nick Lennox, from the Queensland Centre for
Intellectual and Developmental Disability, was a consultant. At
the start of the project he gave advice on appropriate reviewers
for each chapter in the book. During the project he answered
questions specifc to developmental disability from TGL staf.
Te Medical Advisor at TGL, Professor Robert Moulds, and the
Editorial Director, Ms Jenny Johnstone, held regular meetings
with Dr Rogers to discuss progress and resolve any problems
that arose.
At the start of this project, Dr Rogers edited each chapter to
make DDG3 more concise and minimise duplication between
chapters. She did not review the content.
Each of the 36 chapters in the book was reviewed by an expert
on that topic. Some chapters had two reviewers who worked
together. Twenty-nine experts contributed. Many chapters had
diferent reviewers from the last version of the book (DDG2),
which was published in 2005.
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Reviewers were asked to bring the chapter content up to date,
to provide references to support their changes, and to focus
on what information would be most helpful to a general
practitioner. TGL decided that when treatment of a person with
developmental disability was the same as for a person without
disability, the reader would be directed to eTG complete. Tis
means the reader always has the most up-to-date advice on that
topic.
In a collaboration between the relevant expert and Dr Rogers,
each chapter was reviewed and re-edited at least twice (usually
several times). At the end of this process, all reviewers were sent
the draf manuscript for comment. Decisions on whether to
incorporate reviewers comments in the fnal manuscript were
made by TGL staf in consultation with Professor Lennox.
Relevant peak organisations and centres were invited to endorse
the manuscript.
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Contributors
Professor Nick Lennox (contributor and expert advisor)
Queensland Centre for Intellectual and Developmental
Disability, School of Medicine, Te University of Queensland,
Brisbane, Queensland
Dr Helen Boocock
Director, Oral Health, Clinical Education & Training
Queensland, Brisbane, Queensland
Winthrop Research Professor Carol Bower
Telethon Institute for Child Health Research, Centre for Child
Health Research, The University of Western Australia, West
Perth, Western Australia
Dr Mary Burbidge
Clinical Director (retired July 2012), Centre for Developmental
Disability Health Victoria, Monash University, Notting Hill,
Victoria
Dr Jonathan Cohen
Fragile X Alliance Inc, North Caulfeld, Victoria
Adjunct Senior Research Fellow, Centre for Developmental
Disability Health Victoria, Monash University, Notting Hill,
Victoria
Dr Ivana Dojcinov
Specialist trainee in psychiatry of intellectual disabilities, Welsh
Centre for Learning Disabilities, Cardiff University, Cardiff,
Wales, UK
Dr Seeta Durvasula
Medical Lecturer in Developmental Disabilities, Centre for
Disability Studies, Sydney Medical School, University of
Sydney, Camperdown, New South Wales
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Dr Gillian Eastgate
Senior Lecturer/General Practitioner, Queensland Centre for
Intellectual and Developmental Disability, School of Medicine,
Te University of Queensland, Brisbane, Queensland
Dr Catherine Franklin
Consultant Psychiatrist, Queensland Centre for Intellectual
and Developmental Disability, School of Medicine, Te
University of Queensland, Brisbane, Queensland
Ms Julie Gibson
Clinical Coordinator, Queensland Centre for Intellectual and
Developmental Disability, School of Medicine, Te University
of Queensland, Brisbane, Queensland
Dr Sonia Grover
Royal Childrens Hospital, Parkville, Victoria
Dr Bronwyn Hemsley
Senior Lecturer (Speech Pathology), Te University of
Newcastle, Callaghan, New South Wales
Ms Jenny Johnstone
Editorial Director, Terapeutic Guidelines Limited, Melbourne,
Victoria
Professor Mike Kerr
Professor Learning Disability Psychiatry, Welsh Centre for
Learning Disabilities, Cardif University, Cardif, Wales, UK
Dr Margo Lane
Senior Lecturer, School of Medicine, The University of
Queensland, Ipswich, Queensland
General Practitioner, Queensland Centre for Intellectual and
Developmental Disability, School of Medicine, Te University
of Queensland, Brisbane, Queensland
Clinical A/Professor Helen Leonard
Head, Child Disability Research, Telethon Institute for Child
Health Research, West Perth, Western Australia
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Professor Robert Moulds
Medical Advisor, Therapeutic Guidelines Limited, Melbourne,
Victoria
Professor Kathryn North
Douglas Burrows Professor of Paediatrics, Faculty of
Medicine, The University of Sydney, New South Wales
Head, Institute for Neuroscience and Muscle Research, The
Childrens Hospital at Westmead, Westmead, New South Wales
Professor Gregory OBrien
Senior Staff Specialist, Mental Health Assessment and
Outreach Team, Wacol, Queensland
Emeritus Professor, Northumbria University, UK
Dr Colleen OLeary
Centre for Population Health Research, Curtin Health
Innovation Research Institute, Curtin University, Perth,
Western Australia
Ms Dianne Pendergast
Former National Chairperson, Australian Guardianship and
Administration Council and former Adult Guardian
(Queensland)
Chairperson, Elder Law Committee, Queensland Law Society
and Barrister, Queensland
Professor Dinah Reddihough
Consultant Paediatrician, Royal Childrens Hospital and
Department of Paediatrics, The University of Melbourne,
Parkville, Victoria
Professor Nicole Rinehart
Clinical Psychology Centre, School of Psychology and
Psychiatry, Monash University, Notting Hill, Victoria
Clinical Psychologist, Melbourne Childrens Clinic,
Camberwell, Victoria
Dr Susie Rogers
Editor, Therapeutic Guidelines Limited, Melbourne, Victoria
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Dr Margaret Rowell
Consultant Paediatrician, Developmental Medicine, Royal
Childrens Hospital, Parkville, Victoria
Mr Jim Simpson
Senior Advocate, New South Wales Council for Intellectual
Disability, Surry Hills, New South Wales
Dr Jacqueline Small
Senior Staff Specialist, Disability Specialist Unit, Sydney
Childrens Hospital Network (Westmead), Burwood, New
South Wales
Clinical Lecturer, The Childrens Hospital at Westmead
Clinical School, The University of Sydney, New South Wales
Clinical Professor Bronwyn Stuckey
Keogh Institute for Medical Research, Sir Charles Gairdner
Hospital, Nedlands, Western Australia
Ms Miriam Taylor Gomez
Education Coordinator, Queensland Centre for Intellectual and
Developmental Disability, School of Medicine, University of
Queensland, Brisbane, Queensland
Dr Jane Tracy
Education Director, Centre for Developmental Disability
Health Victoria, Monash University, Notting Hill, Victoria
A/Professor Julian Trollor
Chair, Intellectual Disability Mental Health, School of
Psychiatry and Head, Department of Developmental Disability
Neuropsychiatry, University of New South Wales, New South
Wales
Dr Madonna Tucker
Psychologist, Brisbane, Queensland
All contributors have stated that they have complied with
Therapeutic Guidelines Limited policy on confict of interest.
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Acknowledgments
Colleagues who have contributed to this manuscript are acknow-
ledged below. Versions 1 and 2 of Management Guidelines:
Developmental Disability formed the basis for Version 3.
Additional contributor to current version
Dr David Mowat
Senior Staf Specialist and Clinical Geneticist, Sydney
Childrens Hospital, Randwick, New South Wales
Contributors to previous versions
Dr S Balandin (version 1)
Dr H Beange (versions 1, 2)
Professor S Berkovic (version 1)
Ms S Brady (version 1)
Ms J Butler (versions 1, 2)
Ms A Buzio (version 1)
Dr B Chenoweth (version 1)
Dr A Churchyard (version 2)
Mr J Cockerill (version 2)
Dr N Cooling (version 2)
Dr J Curran (version 1)
Dr M Cuskelly (version 2)
Dr J Davis (version 1)
A/Professor R Davis (versions 1, 2)
Ms J Diggens (versions 1, 2)
Ms N Edwards (version 2)
Dr P Graves (versions 1, 2)
Dr D Harley (version 2)
Dr D Henderson (version 2)
Dr T Iacono (version 2)
A/Professor N Kerse (versions 1, 2)
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Dr P King (version 2)
Mr F Lambrick (version 2)
Dr J Marshall (version 2)
Dr J Maxwell (version 2)
Ms J McDowell (version 2)
Dr A McElduf (version 2)
Dr C Mohr (version 2)
Dr A Nielsen (version 2)
Dr M Nugent (version 2)
Ms W OConnor (version 1)
Dr D Palmer (versions 1, 2)
Ms N Paul (version 1)
Professor D Ravine (version 2)
Ms L Stewart (version 2)
Professor B Tonge (versions 1, 2)
Dr J Torr (version 2)
Dr S Trumble (version 1)
Dr P White (version 2)
Dr M Winshaw (version 1)
Evaluation network
Terapeutic Guidelines Limited (TGL) thanks its evaluation
network of over 200users who provide feedback on use of the
guidelines in clinical practice. TGL also thanks those who have
provided feedback directly or through the request for comment
at the end of the book.
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Endorsements
Australian Association of Developmental Disability Medicine
Australasian Society for Intellectual Disability
Centre for Developmental Disability Health Victoria
Centre for Disability Studies, Te University of Sydney
National Council on Intellectual Disability
Queensland Centre for Intellectual and Developmental Disability
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Board of directors of TGL
Mr RS Kneebone (chairman)
Albert Park, Victoria
Dr JS Dowden
Yarralumla, Australian Capital Territory
Professor PP Glasziou
Robina, Queensland
Mr MJ Harvey
Sandringham, Victoria
Professor MR Kidd
Potts Point, New South Wales
Professor JE Marley
New Lambton Heights, New South Wales
Dr CD Mitchell
*

Ballina, New South Wales
Dr JG Primrose
Farrer, Australian Capital Territory
Professor JWG Tiller

Melbourne, Victoria
Chief executive ofcer of TGL
Dr SM Phillips
Williamstown, Victoria

Nominees of the following organisations:
* The Royal Australian College of General Practitioners
Victorian Medical Postgraduate Foundation Inc.
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Developmental disability and health care 1
Developmental disability
and health care
Management Guidelines: Developmental Disability aims to help
medical practitioners care for people with developmental dis-
ability. In particular, general practitioners (GPs) are central to
care of these people. Te guidelines cover a broad rangefrom
birth to old age, from assessment to long-term management, and
from general health concerns to those specifc for syndromes.
Management Guidelines: Developmental Disability is also relevant
to a broader readership. Input from a range of medical and non-
medical professions is usually required when responding to
the health needs of people with developmental disability. Most
importantly, the person with disability, their families and other
support people need to be involved. Te guidelines have been
written so they are accessible to people who are not professional
health care workers.
As well as medical information, this book discusses the social,
developmental and environmental concerns common to all
people with developmental disability. Many health concerns
are managed as for people without disability. In this situation
the reader is directed to eTGcomplete for advice. Management
Guidelines: Developmental Disability highlights areas where
management difers from that of the general population.
DEFINITIONS
Important terms used in this book are defned below.
Developmental disability
Developmental disabilities are those that relate to diferences in
neurologically based functions that have their onset before birth
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or during childhood, and are associated with signifcant long-
term difculties.
*
While most people with developmental disability have
intellectual disability, some do not. For example, cerebral palsy
and autism spectrum disorder are developmental disabilities, but
not all people with these disorders have intellectual disability.
Intellectual disability
Intellectual disability is a disability characterized by signifcant
limitations both in intellectual functioning and in adaptive
behavior, which covers many everyday social and practical skills.
Tis disability originates before the age of 18.
Te term intellectual disability is recommended by the World

Health Organization (WHO) and United Nations. Others use
terms such as mental handicap, learning disability or mental
retardation.
When information in this book is specifc to people with
intellectual disability, this term has been used instead of people
with developmental disability.
Support person
Troughout this book, the terms support person or support
people refer to parents, family, friends, carers, support workers
or foster carers.
MODELS OF DISABILITY
Since the mid-1970s there has been a conceptual shif in the way
people with developmental disability are viewed. Te focus used
to be on disability (caused by disease, trauma or other events) as
a feature of the person (the medical model). Now disability is
viewed as a socially created problem (the social model).
*
Graves P. The child with a developmental disability. In: Robinson MJ, Roberton DM,
editors. Practical paediatrics. 5th ed. Edinburgh: Churchill Livingstone; 2003. p.86-93.

American Association on Intellectual and Developmental Disabilities. Denition of
intellectual disability. Washington DC: AAIDD.
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Te WHO has argued that both views have merit and work well
together, and that disability is always an interaction between
features of the person and features of the overall context in
which the person lives. Tey sought to refect this shif and
acknowledge both models of disability by developing the
International Classifcation of Functioning, Disability and
Health (ICF). Te ICF has a more holistic view of disability, and
is based on function, activity and participation in society.
DEVELOPMENTAL DISABILITY POPULATION
Estimates of the prevalence of developmental disability
worldwide vary from 1%to3% of the population. Most of these
people also have intellectual disability.
People with developmental disability have great diversity in
their capacity to function independently. Some need support
to eat, move and perform personal hygiene. Others may drive
their own car, own their home or work without any support.
As a consequence, generalised statements about people with
developmental disability can be inaccurate. Tey may only
apply to subgroups within this population (eg people with high
support needs).
Prevalence studies show that people who do not need much
support (eg those with mild and borderline disability) are
disadvantaged afer they leave school. Tey are no longer
identifed by medical and other support services as having a
disability. It is likely that these services do not recognise this
group of people, beyond an awareness that they may struggle
with literacy or the demands of living. Tey are overrepresented
in the prison population. Also, they are almost certainly within
a lower socioeconomic group, making them vulnerable to poor
health and homelessness.
Health status
Many of the medical conditions experienced by people with
developmental disability are readily recognised, and can be
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managed in the primary care setting. However, these people are
ofen in poor health, and can be vulnerable to abuse and neglect
by individuals and service systems. Tey have higher rates of
illness than the general population, and have additional health
concerns specifc to their disorder or syndrome (see the chapter
on adult health care). Also, many barriers (eg communication
difculties, problems obtaining accurate medical histories)
hinder the provision of quality health care.
Life expectancy of people with intellectual
disability
In the 1930s the average life expectancy of people with intellectual
disability was 20years. By 2002 it had risen, but was still lower
than that in the general population5 years lower for people
with mild intellectual disability, and 20 years lower for people
with severe intellectual disability.
*
Cardiovascular disease was
the most common cause of mortality in a study based on a whole
population sample. Respiratory disorders are the main cause of
death in people with severe to profound disability. Premature
death is associated with:
more severe intellectual disability
general markers of physical disability and debility
epilepsy
cerebral palsy
Down syndrome.
KEY PRINCIPLES OF CARE
Te principles underlying the care of children, adolescents and
adults with developmental disability are based on the theory of
normalisation and its hybrid, social role valorisation.
Te people frst principle is to respect and value people with
developmental disability, rather than focusing on their disability.
*
Bittles AH, Petterson BA, Sullivan SG, Hussain R, Glasson EJ, Montgomery PD. The
inuence of intellectual disability on life expectancy. J Gerontol A Biol Sci Med Sci
2002;57(7):M470-2.
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A central aspect of normalisation is to recognise the right of a
person with developmental disability to experience the same
patterns and rhythms of life as the general population. Examples
include the right to:
use the toilet in private
eat meals at the usual time for their society
have a vocation or occupational activity, and go to it during
the day.
An extension of the concept of normalisation is social role
valorisation, which emphasises the importance of valued social
roles.
Dignity of risk
Risks are inherent in life and are encountered daily. For example,
when driving a car, there is a risk of having an accident. Tese
risks are accepted because of the benefts of the freedom they
bring.
Te concept of dignity of risk is to allow people with develop-
mental disability to take certain risks to gain dignity, which is
implicit in mastering new activities. In each circumstance, the
person with disability must make a judgment about its relative
harms and benefts. Support people may need to be involved in
this judgment.
Duty of care is as important as dignity of risk. Both principles
need to be considered when decisions are made on behalf of
another person.
Least restrictive alternative
Sometimes it may be necessary to intervene in the life of a person
with developmental disability (eg to start drug therapy). When
contemplating any intervention, the overriding consideration
should be what is least restrictive for the person. Tis means
putting their welfare frst, rather than choosing what is easiest
for other people or support systems.
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Holistic care
Providing holistic care to people with developmental disability
means coordinating their need for stimulating educational,
occupational, social, recreational and spiritual activities. It
also means allowing them to be challenged and valued and to
continue learning throughout their lives.
Medical practitioners must be aware of the broader context of
a persons life, and not lose sight of all aspects of the person.
Otherwise they may falsely attribute the presenting problems
(including physical symptoms and changed or challenging
behaviour) to the persons disability.
HEALTH CARE
People with disabilities, including people with developmental
disability, have a right to access efective health care of the same
standard as people without disabilities.
*
Te basis for good
health care is:
an awareness of health concerns across the lifespan
regular health review
a strong collaborative relationship with the patient and
family/carers
access to a multidisciplinary health care team.
Attention to these points enables identifcation and management
of health and social problems that arise throughout the life of a
person with developmental disability.
Role of the general practitioner
No one health professional can address all the health and social
problems that arise for people with developmental disability.
Many interventions require the contribution of various medical
practitioners, allied health professionals and community-based
services (disability and mainstream).
*
United Nations Enable. Convention on the rights of persons with disabilities. New York,
NY: UN Secretariat for the Convention on the Rights of Persons with Disabilities; 2006.
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Te role of a GP in caring for a person with developmental
disability includes providing:
assessment, if the disability was not diagnosed at birth
(eg detecting developmental delay, assessing function,
determining the cause, informing family members)
information about the persons disability, including helping
the family to understand reports provided by others
information about entitlements and services
ongoing health care (eg detecting and managing associated
conditions, general health care).
Another important role for the GP is promoting coordination
and teamwork between the medical specialists who are involved
in the persons care. Teir GP can ensure that timely assessments
and reviews occur and that information is shared.
Finally, a GP can be a powerful advocate for a person with
developmental disability, helping them to overcome bureaucratic
and attitudinal barriers (see the chapter on advocacy).
Social supports
People with developmental disability usually live with family
or other people who assist them in their daily lives. Knowing
a persons home circumstances and available support is highly
relevant to the way their health care is provided. A home visit
gives valuable insights.
Disability support workers have training in disability, but usually
have no training in health care. Expectations of their capacity to
monitor health and illness or medication efects, or implement
health management advice, must take this into account. Factors
that afect communication between paid support people (eg staf
turnover, shif work, use of casual staf) also afect their ability to
work as a part of the health care team.
Other therapies
Practitioners are ofen asked about nutritional and physical
therapies. Tese may have been promoted as cures for
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developmental disability, or at least as a therapy that signifcantly
ameliorates the disability. Tese therapies lack sufcient evidence
of efcacy to support their recommendation by medical
practitioners. Rather than dismissing the parents request for
advice, practitioners can help them make informed choices
about using these therapies.
Some parents choose alternative and/or complementary
medicine for their child with developmental disability. Te GP
should always ask if these medicines are being used, so they can
consider this when discussing medical interventions.
Family support
An important part of the clinicians role is to ofer hope and a
positive outlook. All people have a valuable place in society.
People with developmental disability have many strengths that
need to be recognised. Families cope better when given sufcient
information and support.
Te demands and stresses on the family of a person with
developmental disability can be great, especially if the person
has problem behaviours. Families should be treated with an
understanding of the difculties they may face. Tey should
also be respected for their ability to manage what may be an
extremely difcult situation.
REFERENCES AND FURTHER READING
American Association on Intellectual and Developmental Disabilities. Denition of
intellectual disability. Washington DC: AAIDD. Accessed July 2012.
Beange H, McElduff A, Baker W. Medical disorders of adults with mental retardation: a
population study. Am J Ment Retard 1995;99(6):595-604.
2002;57(7):M470-2.
Durvasula S, Beange H, Baker W. Mortality of people with intellectual disability in northern
Sydney. J Intellect Dev Disabil 2002;27(4):255-64.
Graves P. The child with a developmental disability. In: Robinson MJ, Roberton DM, editors.
Practical paediatrics. 5th ed. Edinburgh: Churchill Livingstone; 2003. p.86-93.
Howells G. Are the medical needs of mentally handicapped adults being met? J R Coll Gen
Pract 1986;36(291):449-53.
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Lennox NG, Diggens JN, Ugoni AM. The general practice care of people with intellectual
disability: barriers and solutions. J Intellect Disabil Res 1997;41(Pt 5):380-90.
McDonald G, McKay DN. The prevalence of learning disability in a Health and Social
Services Board in Northern Ireland. J Intellect Disabil Res 1996;40 (Pt 6):550-6.
Nirje B. The basis and logic of the normalisation principle. Aust N Z J Dev Disabil
1985;11:65-8.
Patja K, Molsa P, Iivanainen M. Cause-specic mortality of people with intellectual disability
in a population-based, 35-year follow-up study. J Intellect Disabil Res 2001;45(Pt 1):30-
40.
United Nations Enable. Convention on the rights of persons with disabilities. New York, NY:
UN Secretariat for the Convention on the Rights of Persons with Disabilities; 2006.
Wen X, Beard T, Bricknell S. Disability prevalence and trends. Canberra: Australian Institute
of Health and Welfare (AIHW); 2003.
World Health Organization. International classication of functioning, disability and health.
Geneva: World Health Organization; 2001.
World Health Organization. World report on disability. Geneva: WHO; 2011.
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The doctor as advocate 10
The doctor as advocate
A developmental disability makes it harder for a person to speak
up for themselves and negotiate the health system. Teir doctor
can help empower them to do these things, and be their advocate
with health and bureaucratic systems.
Te starting point should be to empower the person with
developmental disability to make their own decisions about
their health care.
Adults with developmental disability ofen need support so they
can successfully navigate the doctorpatient relationship and
the broader health care system. Tey need support to:
ensure their doctor is well-informed about their health needs
understand the options for their health care, and make
decisions.
Some people have to rely on others to communicate with their
doctor and give consent on their behalf.
Te doctor can help the person to participate as much as possible
in health decisions. Family members, friends and disability
support workers can also help to:
communicate with the doctor
advocate for appropriate health care
redress any power imbalance in the doctorpatient
interaction.
GENERAL PRACTITIONER AS ADVOCATE
One of a general practitioners (GPs) many roles is to be an
advocate for their patients and to help them navigate the
health system. Tis is particularly important for patients with
developmental disability.
A constant in the life of a person with developmental disability
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may be their GP. Over many years the GP may develop a holis-
tic knowledge of the persons background, personality, likes,
dislikes and medical history. Terefore they can be valuable
advocates for the person. Tis can be particularly important if
the person does not have closely involved family members.
Some people (including health professionals) can form value
judgments about the lives of people with developmental
disability. Tey may have had minimal training and experience
with people with disability, and may make decisions based on
ill-informed preconceptions. A GPs role is to ensure the same
principles are applied to caring for patients with disability as
for any patient. Tis is regardless of the patients intellect or
physical ability.
With family members and other support people
People who know a person with developmental disability well
are ofen important sources of information for the GP. Family
may have spent decades as carers and have a deep knowledge
of the person. However, there may be situations when the GP
needs to speak up to family or support workers on the persons
behalf. Te GP should be alert to this.
People with developmental disability have the same feelings
and needs as anyone else. Many people (including some
support workers, and even some family members) do not fully
understand this. GPs who do understand can be an efective
advocate by educating the other people in their patients life.
Sometimes support workers and family members face a confict
between their needs and those of the person with developmental
disability. For example, it may be easier for them if the person
with developmental disability is dozing in front of the television.
GPs should be alert for signs of this. Tey can explain that
treatment decisions must be focused on the health and wellbeing
of the person with developmental disability.
People with developmental disability are vulnerable to abuse
and neglect from those they depend on for support. Te GP can
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detect signs of abuse and intervene. Tey should ensure abuse
is reported to appropriate authorities, while maintaining the
persons privacy. GPs should also be alert for signs that family
members are stressed or exhausted from their caring role. If so,
the GP can help address this.
With government departments
People with developmental disability ofen need a GP as advocate
when dealing with government departments (eg accessing
Centrelink benefts or disability support services). A GP can do
much in a short time to help. For example, they can:
ensure a form is legible and completely flled out
make a polite phone call.
Sometimes, the GP may contact a local disability advocacy
agency that can help solve major problems with government
departments or health services. Disability advocacy agencies are
funded by the Commonwealth and state governments.
With the public hospital system
People with developmental disability ofen need to go to public
hospitals. Tis is due to their complex health care needs and lack
of private health insurance.
Hospital emergency departments are mainly stafed by junior
doctors. Tese doctors have diverse and large demands placed on
them. Tey may not be experienced in dealing with patients with
developmental disability. Te GP is ofen essential in ensuring
that people with developmental disability get appropriate care in
hospital, as illustrated in the example on the next page.
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Chris is a 43-year-old woman who lives with her ageing
parents. The cause of her intellectual disability is unknown.
She is extremely sociable and has good receptive language,
but does not speak.
Chris was independently mobile, but often fell because she
was rather unsteady when she hurried. She always recovered
quickly and kept going. One day, her mother found Chris
lying on the oor, looking as though she had fallen. She was
making no attempt to get up. Chris moved her arms and left
leg a little, but had no spontaneous movement of her right
leg. She showed no signs of pain, but seemed to resist her
right leg being moved. A fracture was suspected, with spinal
injury being a differential diagnosis.
Chris was transferred to the emergency department of a
public hospital by ambulance. She had a detailed letter
with her (including her premorbid history) from the GP who
examined her. In hospital she had X-rays of her hips, pelvis
and lumbosacral spinethese were normal. She was sent
home without a diagnosis, but with a letter suggesting she
was simply refusing to walk.
Over the following day Chris developed spastic quadriparesis
and went back to the emergency department. Again she was
sent home without a diagnosis, despite the referring GPs
provisional differential diagnosis of neck injury. On the third
day, after signicant pressure from the GP and her parents,
she was admitted to hospital. A C36 cord contusion was
diagnosed. Delay in diagnosis meant that corticosteroids
(which could have halted the progression of her condition)
were not given in time.
When a person with developmental disability presents at hospital
for the frst time, it is important for the doctor to:
take a thorough premorbid history (from the patient, any
support person and referring doctor, and preferably from all
three)
avoid making assumptions about the extent of the persons
disability, or that their presenting complaint is part of their
disability (this can have serious consequences, as above).
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Te referring GP can promote this process by:
sending a referral letter with the patient that states their
premorbid history, any changes from their usual function,
and a diagnosis (if possible). A photograph of the person in
their best health, engaging in activity, is a useful reference
encouraging a support person to accompany the patient to
hospital (this person must know the patient well, and be able to
provide an accurate description of their premorbid condition)
tracking every referral to hospital, to ensure an appropriate
outcome.
Every patient needs to have a diagnosis and a management
plan before they are discharged from hospital. Tis is especially
important for people with developmental disability. Te
management plan should be prepared in consultation with the
patient and their support person. Tis is needed to ensure the
plan is not based on wrong assumptions (eg that the group home
where the person lives is stafed by nurses).
Cocks E, Australian Institute on Intellectual Disability. An introduction to intellectual
disability in Australia. 3rd, rev ed. Canberra: Australian Institute on Intellectual Disability;
1998.
Cocks E, Duffy G, Centre for the Development of Human Resources (W.A.). The nature
and purposes of advocacy for people with disabilities. Perth, W.A.: Edith Cowan University;
1993.
Horton R. The doctors role in advocacy. Lancet 2002;359(9305):458.
Iacono T, Davis R, Humphreys J, Chandler N. GP and support peoples concerns and
priorities for meeting the health care needs of individuals with developmental disabilities:
A metropolitan and non-metropolitan comparison. J Intellect Dev Disabil 2003;28(4):353-
68.
Lennox N, Taylor M, Rey-Conde T, Bain C, Boyle FM, Purdie DM. ask for it: development
of a health advocacy intervention for adults with intellectual disability and their general
practitioners. Health Promot Int 2004;19(2):167-75.
Sayer GP, Britt H, Horn F, Bhasale A, McGeechan K, Charles J, et al. Measures of health
and health care delivery in general practice in Australia: SAND: supplementary analysis of
nominated data 1998-99 Canberra: AIHW; 2000.
World Health Organization. World report on disability. Geneva: WHO; 2011.
Ziviani J, Lennox N, Allison H, Lyons M, Mar CD. Meeting in the middle: improving
communication in primary health care consultations with people with an intellectual
disability. J Intellect Dev Disabil 2004;29(3):211-25.
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Communicating with a person with developmental disability 15
Communicating with a
person with developmental
disability
People with developmental disability (with or without intellectual
disability) ofen have major difculty communicating. Tis is
one of the most signifcant barriers to providing them with high
quality health care.
Communication is needed to take a history, assess a patient,
make a diagnosis and determine their treatment or management
plan. It is the basis for establishing rapport and conveying
information and instructions to the patient. To ensure a person
with developmental disability receives good health care, the
general practitioner must take time to establish the best possible
communication with them. Breakdown in communication
between people with developmental disability and their support
people and clinicians is a cause of much morbidity and mortality.
People with developmental disability appreciate doctors who talk
to them with respect and explain what is happening. Tey also
appreciate it when their doctor listens to what they are trying to
say, and says when they do not understand them. Other factors
that enhance communication are:
considerate booking procedures (including allowing enough
time for the consultation)
personal health records
information from other sources.
See further discussion of these factors (before and during the
consultation).
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COMMUNICATION SKILLS OF PEOPLE WITH
DEVELOPMENTAL DISABILITY
People with developmental disability have varied communica-
tion skills. For example, people with moderate to severe levels
of intellectual disability are ofen better at understanding the
spoken word (receptive language) than producing it (expressive
language).
People with poor receptive language rely on routines and cues
from their environments, so they can anticipate situations or
understand what theyre being told.
Problems with expressive language can be a result of not having
sufcient neuromuscular control to produce words. People with
cerebral palsy may have good language skills, but not be able
to show this because of severe dysarthria. Some people with
intellectual disability may be difcult to understand because
they cant articulate properly. Teir attempts at spoken language
are ofen unsuccessful, particularly with people who dont know
them well. In contrast, others have severe language delay as a
result of cognitive impairment or specifc language defcits. Teir
failure to speak, or use of only a few words, is due to problems
accessing vocabulary and formulating sentences, rather than
with speech per se.
People who do not use speech, or whose speech is not sufcient for
most daily situations, are said to have complex communication
needs. Tese people use various forms of augmentative and
alternative communication.
Levels of receptive and expressive language can be underesti-
mated, even by relatives and other support people who have
known the person for a long time.
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COMMUNICATING AT A CONSULTATION
In a consultation with a person with developmental disability, it is
important to recognise and use their strengths (not weaknesses)
and emphasise them. In other words, focus on their abilities
and not on their disabilities. Disabilities and impairments are
problems to be circumvented, not the essence of the person.
Two helpful strategies follow:
Assess the persons capabilities by asking simple introductory
questions (eg name, age, reason for attendance).
Involve the person through what they can do, as you assess
their understanding, hearing and attentiveness (eg Can you
take your shirt of for me? Tanks, thats great.).
Establishing rapport with a person with developmental disability
helps to:
communicate information
build sufcient trust and familiarity for the examination and
investigations to proceed
improve the patients adherence to therapy.
While obtaining information from support people, establish
rapport with the patient by maintaining as much contact as
possible. Te clinician can:
use verbal comments and afrmations, make eye contact and
show facial responsiveness
include the patient in explanations and plans
show the patient examples
use appropriate physical contact.
Initial greeting
When greeting your patient, the following steps help
communication:
greet the patient frst, before any relative or other support
person who has come with them
use respectful terms (as for any person of a similar age)
ask the patient for consent before using their frst name
avoid treating the patient as a child or speaking in patronising,
overfamiliar tones.
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If a relative or other support person assumes you will com-
municate through them, be frm in establishing contact with
the patient frst (eg John cant talk, doctor; he doesnt understand
anything. Response: Tats alright. Id still like to talk to John to
start with.).
Subsequent communication
Base subsequent communication with the patient on what you
have just learned about their communication skills.
Uncertain verbal skills
If you are uncertain about the patients verbal skills, initially
assume they are competent. Speak directly to them, and adjust
this as necessary (eg You seem a bit uncertain about my questions.
Is there someone here who youd like to help you with the answers?).
Receptive language is ofen more advanced than expressive
language.
Be alert for signs that the patient is listening and following the
conversation, and respond appropriately.
Competent verbal skills
If the patient has verbal skills, ask them to introduce any other
people who have come with them to the consultation. Also ask
what role the accompanying people play in their life (eg Who do
you have here with you today?).
Check that the patient is happy for any accompanying people to
remain during the consultation. Let the patient know they can
ask any of these people to leave at any time. Say that you would
like to spend some time alone with them if they are willing. Ask
them what their presenting problem is.
Be aware that some people with mild intellectual disability have
good expressive skills but poor receptive skills. Tey may give
coherent answers to questions they have not really understood.
It can take some time for inconsistencies to become apparent.
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Limited verbal skills
Even if the patient has limited verbal skills, address them directly.
Some people may use signs and gestures, or bring aided communi-
cation systems with them. Tey may communicate with you
directly, or through a support person. See advice on communi-
cating with a person with complex communication needs.
Sometimes it may be claimed that a person does not have a
communication system, or does not communicate. Te latter
is unlikelythe person probably relies on informal systems
(eg facial expression or vocalisations). Some people may use
inappropriate or problem behaviours to convey dislikes or
frustration, because they have no other way to communicate.
If this is suspected, intervention by a speech pathologist or
an augmentative and alternative communication specialist
is warranted. If you are told that a person does not have a
communication system, ask their support person to tell you how
they know what the person wants.
Even if the patient cant understand spoken language, they may
respond to tone of voice or facial expressions.
If the person has not brought any aided communication systems
with them, say that you would like their permission to talk about
them with their accompanying people (eg Id like to fnd out more
about you, Mr Brown, so Ill just ask your friends a few questions
if you dont mind.).
Observe the patients response to this. Use it as a guide to decide
the level and nature of further involvement with them. Even if
the patient cant understand spoken language, they may respond
to tone of voice or facial expressionsthey can be included in
the consultation in this way.
Sometimes an accompanying person acts as interpreter of the
patients attempts to communicate. Tis person may explain what
the patients signs or gestures mean, restate dysarthric speech or
act as a facilitator for facilitated communication. Always look
for concordance between what you are being told the patient is
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saying and your assessment. Base this on their facial expression,
vocalisations, level of engagement and other nonverbal cues.
Optimal communication
Following is advice on achieving optimal communication with
your patient with developmental disability. It applies whether or
not they are using augmentative and alternative communication.
Clear
Before asking the patient any questions, get their attention (and
eye contact if possible) by using their name, or with touch.
Techniques that aid clear communication are to:
use simple words, sentences and concepts
avoid jargon
use age-appropriate terminology that the patient knows
speak clearly, directly and not too fast
use concrete and obvious examples
expect a response, and wait at least 10seconds for it.
Rephrase questions if necessary.
Supplement speech with body language (eg signs, gestures, facial
expressions).
Reinforced
Repetition reinforces a message, establishes its importance, and
gives the patient more time to process it. Asking the patient to
restate what you said shows whether they understood. Some
people with developmental disability say they understand
because they want to please you.
Dont be afraid to tell the patient that you dont understand
them. Never pretend to understand when you dont. Be honest
and seek clarifcation (eg Im not sure I quite followed what you
said then. Can you tell me again?).
Ask the patient to restate things as ofen as is necessary to ensure:
you have been understood
you understand what the patient is telling you.
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Open-ended questions and alternative responses
Some people with developmental disability say Yes to direct
or closed questions (eg Do you get the headache every day?
Response: Yes). If you suspect this is happening, you can subtly
check (eg Do the headaches come only at weekends? Response:
Yes).
Preferably, use open-ended questions (eg How ofen do you get
a headache?). Unfortunately, some people with developmental
disability may fnd such questions overwhelming or concep-
tually difcult. A suitable compromise may be to ask them to
choose between carefully selected alternatives, then gradually
narrow their choice (eg Do you get headaches every day or
sometimes? Only sometimes?). If you suspect the patient is
parroting the second alternative, rephrase it and check.
Concrete examples and diagrams
Many people with developmental disability have difculty
following abstract or conceptual language. You can enhance
communication by:
using pictures in books (including anatomical references),
drawing simple diagrams or pictures, or pointing to a model
fnding the appropriate picture or sign in the patients
communication book
demonstrating body parts and planned actions (on your
body, a support persons or a model)
letting the patient handle and explore equipment (eg
stethoscope, otoscope)
showing examples of tablets or other medication.
People who rely on routine may beneft from seeing pictures of
what happens in a planned procedure. Tey may also beneft from
taking the pictures home before they return for the procedure
(eg for removal of sutures or having an electroencephalogram).
Monitor patients response
When talking to a support person, be aware of the patients
reaction to what is being said, and acknowledge it. Find out if
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the patient wants to be present during this discussion and is
willing for it to continue. Sometimes they may choose to leave
the room while uncomfortable topics are discussed.
Whenever other people accompany a patient to a consultation,
offer the patient the opportunity to talk to you alone.
Occasionally you may think the information from others at
the consultation is sensitive or has upset the patient. Ofer the
patient the opportunity to talk to you alone about it.
COMPLEX COMMUNICATION NEEDS
People who do not use speech, or whose speech is not
sufcient for most daily situations, are said to have complex
communication needs. Tese people use augmentative and
alternative communication (AAC). Tis umbrella term refers to:
various unaided and aided ways to communicate
techniques and strategies to access these communication
modes.
Unaided systems
Unaided systems of AAC use only the persons voice or body.
Tey include gestures, signs, facial expression, body language
and vocalisations. People with severe intellectual disability are
likely to display these in informal ways, with their communi-
cation partner having to infer meaning.
Unaided systems (eg signs and gestures) can also be part of a
formal system, when both communication partners know their
meaning.
Gestures
Gestures can be documented in a book. A gesture dictionary
contains photographs of the person using their gestures, with
written explanations of their meanings (eg I rub my fnger up and
down my cheek when I need help). Tis book accompanies the
person wherever they go. Other ways the person communicates
can be added to it. Tese may be facial expressions or behaviours
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that their family (or other support people) consider to have a
consistent and narrow range of meanings.
A person can be taught new gestures that are within their
capacity to represent even more meanings.
Key word signs
Many people with intellectual disability use key word signs from
the Makaton vocabulary. Skills in using the signs vary. Some
people use a few basic signs to indicate wants and needs (eg food
preferences, when help is needed, to stop an activity). Others
have quite an extensive vocabulary and produce simple two- to
three-word sentences. When signs are used with people who can
understand them, sometimes in combination with other systems,
they can be efective quick communication. A dictionary of the
persons signs can help new communication partners.
Aided systems
Aided AAC systems take many forms, because they are usually
designed to suit each persons needs and abilities. Some aided
systems use technology.
Nontechnological systems
Nontechnological aided AAC systems include:
communication boards and books
charts with objects or pictures that represent the persons
daily activities (eg a calendar)
cards with written information that can be used to access
services in the community (eg a card the person can take to
the hairdresser that says Id like to make an appointment to
have my hair cut)
picture sequences that represent an activity or series of
activities (eg attending a church service).
Tese systems use symbols that the person selects to make a
message. Te symbols vary for each person, according to their
language skills. Tey may include the alphabet, written words
or phrases, line drawings, photographs or objects (or parts of
objects).
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Technological systems
Technological aided AAC systems include various electronic
devices. In simple message systems, a few messages are
programmed under picture symbols. A speech synthesiser
delivers the selected message.
More advanced systems allow:
combinations of symbols (eg the alphabet and picture
symbols)
long messages to be produced using only a few selections
integration with a computer. Tis enables the person to move
between oral communication and word processing or other
computer activities.
Techniques for accessing aided systems
When accessing aided systems, the person with developmental
disability may:
directly touch a symbol, or press it with a fst or head pointer
use a light pointer
press a switch to activate scanning of symbols, then press
the switch again to select the desired symbol (when using
electronic devices).
Another technique is facilitated communication. Te person
with disability is physically supported by another person (a
facilitator) to use their communication device. Correct use of
this method is for the facilitator to move the persons hand away
from the device afer theyve made a selection. Tis ensures each
selection is clean (ie not infuenced by the previous selection).
Caution is needed with this technique. Tere is potential for the
facilitator to subconsciously infuence the content of the message.
Tis means it cannot be assumed the message is accurate and is
coming from the patient. It is important to confrm the message
using other methods (eg body language, gestures, physical
fndings, yes/no or verbal responses, opinions of other support
people).
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Multimodal communication
Augmentative and alternative communication is, by its nature,
multimodal. For example, people who use signs ofen use a
communication board or book, as well as gestures, vocalisations
and facial expressions. Te modality they use may vary,
depending on:
how well they know the person theyre communicating with
the nature of the message they are trying to convey.
A person with a gesture dictionary and an extensive com-
munication board is likely to use a gesture for a quick message
(eg Can you get me a cofee?). Tey may use their communication
board for a detailed message about a recent incident.
Some people with disability learn that unfamiliar people do not
know their signs, so they use a communication book with them.
Tey use signs to deliver the same messages to familiar listeners.
Communicating with a person with complex
communication needs
More than anything, people who use AAC need their listeners
to be patient and willing to work with them. Two strategies that
make this easier for the listener are to:
take time to learn how the person communicates
fnd out how to help them when they are communicating.
Te best person to advise the listener on how to help is the
person with disability. Tis can be through their responses to
direct questions, or by observing how they communicate.
Find out as much as you can about how the person communicates,
with familiar and unfamiliar listeners. Ask their support person
to bring in any communication systems the person has. Check
each system to see if it has any information on how the person
communicates. Many communication boards and books have a
section for the listener. Tis describes how the person uses that
system and any other informal modes of communication they use.
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If the person only knows a few signs, fnd out what they are.
If you cant learn these signs before meeting them, ask their
support person to interpret for you.
In addition to the specifc advice that follows, see the advice on
optimal communication.
Communicating directly
Some people with disability have good communication skills,
but can only show this if you:
pay direct attention to them (rather than to their support
person)
give them plenty of time.
A person may choose to spell using an alphabet board or an
electronic device. Ask if they prefer you to anticipate their
message (saving them the efort of completing it) or wait
until theyve fnished. Peoples preferences varyfor some,
interruptions disrupt their ability to process information.
Even if you judge that a person has poor receptive language,
direct your communication to them. Use simple but complete
sentences. If the person has a communication aid, ask if it would
help their understanding if you use the aid for key concepts (eg
pointing to a picture of a body part when asking if the person
has pain there). Give the person plenty of time to respond. Many
people with developmental disability need extra time to process
information. Repeating information too soon can be disruptive.
Consider asking a series of direct questions that need a one- or
two-word response. If the person has good receptive language,
you can ask a series of yes/no questions. Take care that they dont
give the answer they think you want.
Develop your own AAC systemsthese can be pictures or
gestures that help the person understand an explanation or
instruction.
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Communicating through a support person
If you fnd it difcult to understand the attempts of a person
with disability to communicate using AAC, ask their permission
for their support person to interpret or assist. When using this
strategy:
ensure you are getting a verbatim report from the support
personemphasise that you want to know exactly what the
person with disability says, even if it does not make sense to
the interpreter
allow extra consultation time for interpreting
talk directly to the person and maintain eye contact with
them
recheck and rephrase to make sure you understand what the
person is communicating.
RESOURCES
Resources for enhancing communication by people with
communication difculties, their families and professionals are
listed below.
Users should be aware that websites are not vetted for the
quality of their information. Also, some may be sponsored by
the pharmaceutical industry or other commercial organisations.
Terapeutic Guidelines Limited accepts no responsibility for the
currency or accuracy of the information found at these or linked
websites.
Easy English Writing Style Guide (Scope, Victoria)
Guide for preparing documents for people who have
difculty reading and understanding written information.
Te Scope Communication Resource Centre ofers a range
of other resources for helping communication, including
information sessions and publications for purchase.
Australian Communication Exchange
A national not-for-proft organisation providing services for
people who are deaf or have a hearing or speech impairment.
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Beukelman DR, Mirenda P. Augmentative and alternative communication: management
of severe communication disorders in children and adults. 2nd ed. Baltimore: P.H. Brookes
Pub.; 1998.
Chew KL, Iacono T, Tracy J. Overcoming communication barriers: working with patients with
intellectual disabilities. Aust Fam Physician 2009;38(1-2):10-4.
Iacono T, Johnson H. Patients with disabilities and complex communication needs. The GP
consultation. Aust Fam Physician 2004;33(8):585-9.
Ryan A, Cowley J, Keesing E. The Makaton vocabulary. Australian (Auslan), Rev ed. Box
Hill, Vic: Makaton Australia; 2001.
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General practice consultation 29
General practice
consultation
Te general practitioner (GP) is usually the frst point of contact
for a person with developmental disability with health (and ofen
behavioural) concerns. However, the GP may have insufcient
training in communicating with, assessing and managing such a
person. Health care that is normally routine may be complex in
a person with developmental disability.
Tis chapter aims to help the GP negotiate these complexities.
It also ofers strategies for accommodating patients with
developmental disability within the framework of a busy general
practice. A case study shows a typical encounter with a person
People with developmental disability have the same range of
everyday illnesses as everyone else. Some conditions may be
more common in people with developmental disability, or may
be associated with a particular disability or syndrome. Tese
common conditions are discussed in the chapter on adult health.
Sometimes health problems may not be recognised, because the
person has difculty communicating symptoms.
BEFORE THE CONSULTATION
Reception and booking procedures for patients with
developmental disability can be established to facilitate efective
information gathering.
Useful strategies for the receptionist include:
asking the patient (and/or support people) to bring their
personal health record (and/or other relevant health
information) to each appointment
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checking whether the patient has any special requirements
(eg mobility or sensory problems)
asking who will be accompanying the patient and their
relationship (eg parent, support worker).
Another useful strategy is to consider booking a longer
consultation, because extra time may be needed to:
establish rapport and communication
unravel complex histories
complete an adequate examination
provide clear explanations and instructions.
Multiple consultations may be considered if a longer consultation
is not possible.
If the person was not identifed before the consultation as having
developmental disability, a brief assessment may be completed.
Further appointments, with the above procedures in place, may
be necessary.
Some people with developmental disability may have difculty
waiting for their consultation. It may be helpful for their support
person to telephone beforehand, to fnd out whether a delay is
likely.
DURING THE CONSULTATION
Adequate information is essential for a successful consultation.
Obtaining information about a person with developmental
disability may mean negotiating:
communication difculty
unfamiliarity with the patient or their support person
lack of documentation (eg past medical history, current
medication).
Support people accompanying a person with developmental
disability may be family members, friends or employees of an
organisation. Tey can be a useful source of information and
assistance, but do not always know the person well. Sometimes
the relationship between the person with developmental disabil-
ity and their support person can infuence the presentation.
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For example, the person may exhibit challenging behaviour with
a support worker they do not like.
Medicare items apply for health assessments and may be relevant
for care planning in this group of patients.
Taking a history
Te patient is the person with developmental disability, not her/
his support person. Tis applies whatever the persons level of
communication. See advice on communicating with a person
with developmental disability during a consultation.
A person with developmental disability may lack the verbal skills
to describe symptoms. Valuable information may be gained
by observing them. For example, if they refuse food, this may
indicate nausea or dental pain. Withdrawal from their usual
activities may be a clue to depression. Identifying the cause of
their discomfort or distress may require energetic investigation.
Te health records of a person with developmental disability
may be inadequate or incomplete. Tis is especially so when
they have an unstable living situation or frequent changes of
support staf.
Te support person may be poorly informed about the person
with developmental disability in their care (eg Im a temporary
staf member just on today), or unfamiliar with their current
problem (eg I just returned from leave today). Tey may not be
aware of past investigations or diagnoses that have a signifcant
efect on the persons ongoing health (eg undescended testes,
oesophagitis). Sometimes support people may disagree about
the problem (eg It never happens when Im there). If conficting
information is received, liaison with the support organisation
may be needed to clarify the situation and obtain further infor-
mation. If a person arrives without adequate medical records, it
is important to address this with their support organisation.
Although tracing a persons past history can be time-consuming,
it has the potential to improve care and to make future
consultations easier.
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Social changes
Changes in the life circumstances of people with developmental
disability afect their physical and mental health. Te GP could
consider the persons:
important relationships (eg with family, friends and other
support people)
opportunities for choice, decision-making and autonomy
interests and ability to share them
changes in important people, routines or plans
developmental life stage and the needs and opportunities
associated with it.
Behaviour
People with developmental disability who have difculty
expressing themselves ofen communicate through their
behaviour. Unusual behaviours, or a change in behaviour, may
refect:
difculty understanding what is expected in certain situations
attempts to obtain something (eg food, a favourite object,
social engagement, control)
attempts to escape something (eg social demands, noise, an
activity, boredom)
emotion (eg excitement, fear, frustration)
experience (eg loneliness, powerlessness, lack of control)
physical discomfort (eg pain, hunger, thirst, heat, cold,
toothache, nausea, constipation, gastro-oesophageal refux)
mental illness (eg anxiety, depression, mania, psychosis)
sensory deterioration (eg hearing, vision).
Behaviours may be complicated further by frustration or despair
at not being understood.
Te key to addressing the persons behaviour of concern is to
work out the underlying problem and manage that. Also, the
person can be supported to fnd more appropriate ways of
obtaining any outcome they are seeking.
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People with disability are at increased risk of abuse and neglect,
usually by people known to them. Psychological or physical abuse
should be considered if their behaviour, mood or demeanour
changes.
Box 1. Information needed when assessing a person
with developmental disability
Patient details (essential)
cause of disability (if known)
past illnesses and operations
past and current medications
preventive health care (immunisations, vision and hearing screening,
Papanicolaou [Pap] smears, mammograms)
screening for syndrome-specic conditions (eg hypothyroidism in Down
syndrome)
allergies
diet
family history
person responsible for medical decisions
Additional information (if available)
bowel care plan
seizure charts
behavioural records
Personal history
family involvement
favourite activities
past residential information
Obtaining further information
Information from other sources (including hospitals, specialists
and support organisations) is ofen needed for adequate
diagnosis and treatment. As with any patient, the person with
developmental disability must give their consent to retrieving
this information. Tey may be able to give this consent directly
or may need a substitute decision-maker (see the chapter on
legal concerns).
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It is important to ensure that the person or their support person
keeps adequate health records. A personal health record may be
useful. Tis is a book or folder that belongs to the patient and has a
cumulative summary of their health care. It is maintained by the
patient, support person and doctor, and taken to each consultation
with a health care professional. Many types of personal health
records are available. Some have been devised (eg by the Centre
for Developmental Disability Health Victoria) for use by people
Encourage people with developmental disability to keep a
personal health record.
Te checklist in Box 1 gives examples of information needed
for a patient with developmental disability. Te Comprehensive
Health Assessment Program (CHAP) can be used to prompt a
systematic health history.
Physical examination
A person with developmental disability may fnd physical
examination frightening. Reasons for this may include:
unfamiliarity with the doctor or the surroundings
inability to understand what is happening
memory of past painful procedures
previous abuse.
It is essential to develop rapport and trust before attempting
physical examination. If possible, avoid examination during a
frst consultation. See ways to familiarise the person with the
proposed examination and equipment.
Uncomfortable examinations (eg genital examinations) should
be deferred if possible, until the person is:
familiar with the doctor and the surroundings
comfortable with general examination.
If a person refuses examination, their right to refuse must be
respected. However, the harms and benefts of sedation may
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need to be considered if:
the person does not have capacity to make decisions about
health care
refusal presents a signifcant health risk.
Investigations
As with physical examination, performing investigations (eg
blood tests, X-rays) on people with developmental disability
may require preparation. Useful strategies beforehand include:
pictures of the investigation to look at
a visit to the facility
desensitisation (eg see advice from the Queensland Centre
for Intellectual and Developmental Disability).
Investigation of serious health problems in a person with
developmental disability may require sedation or anaesthesia in
hospital. It is important that these investigations are performed
with a minimum waiting time. Te GP may need to liaise
assertively with hospital staf to achieve this.
MEDICATION
People with developmental disability ofen have multiple
medical problems. Tese may lead to the use of multiple
medications (especially antiepileptic and antipsychotic drugs),
increasing the risk of adverse efects and interactions. People
with developmental disability may fnd it difcult to identify
and describe adverse efects. Changes in behaviour may indicate
adverse efects (eg not wanting to eat may relate to nausea).
Patients and support people should be informed about the drugs
prescribed, including their reasons for use and potential adverse
efects. Te ways adverse efects may be detected in people who
have difculty expressing their symptoms should be discussed.
Long-term use of drugs can also cause harm (eg antiepileptic
drugs increase the risk of osteoporosis, antipsychotic drugs can
cause hyperprolactinaemia).
All medications should be reviewed regularly.
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CASE EXAMPLE
Peter (age 43 years) presents as a t-in appointment
with two support workers. When he is asked his reason for
coming, he lets out a loud moan. When his support workers
are asked to interpret this, they shrug. His main support
worker is on holiday. Only she is able to understand him.
The support workers report that Peter has always been
difcult to handle. But over the last 3 months he has
become increasingly agitated, and has been hitting out at
his support workers. Today he bit a support worker, and this
prompted the consultation.
Peter lived in an institution for most of his early life. Now
he lives in supported housing in the community, with three
other men with developmental disability. He has been
moved several times because of his aggressive behaviour.
The support workers dont know where his previous health
records are. They do know he is taking several antipsychotic
drugs to treat his aggression. He has a soft diet because his
teeth are poor.
Peter is not cooperative during the physical examination.
He does not like being touched, and particularly dislikes
the abdominal examination. Because of this, an abdominal
X-ray is requested. The X-ray is poor quality due to
movement, but shows gross faecal overload with distension
of the colon.
Peter is admitted to hospital for a bowel washout. On
discharge he is seen several times for:
ongoing bowel management (his support workers now keep a
bowel chart)
a medication review
referral for dental care
a health assessment and care plan.
Peters support organisation is contacted about the need for
proper health records and communication strategies.
Over time, Peters behaviour improves. His support workers
report he is a different person. He attends for regular
checkups, usually bringing his personal health record.
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Bird S. Capacity to consent to treatment. Aust Fam Physician 2011;40(4):249-50.
Charles J, Harrison C, Britt H. Intellectual disability. Aust Fam Physician 2011;40(4):187.
Eastgate G, Lennox NG. Primary health care for adults with intellectual disability. Aust Fam
Physician 2003;32(5):330-3.
Emerson E, Baines S. Health inequalities & people with learning disabilities in the UK:
2010. Lancaster: IHAL; 2010.
Iacono T, Johnson H. Patients with disabilities and complex communication needs. The GP
consultation. Aust Fam Physician 2004;33(8):585-9.
Jaffe JS. Conscious sedation for the performance of gynecologic examination of individuals
with intellectual disability. Conn Med 2005;69(5):267-9.
Jansen DE, Krol B, Groothoff JW, Post D. People with intellectual disability and their health
problems: a review of comparative studies. J Intellect Disabil Res 2004;48(Pt 2):93-102.
Lennox N, Bain C, Rey-Conde T, Purdie D, Bush R, Pandeya N. Effects of a comprehensive
health assessment programme for Australian adults with intellectual disability: a cluster
randomized trial. Int J Epidemiol 2007;36(1):139-46.
Lennox N, Bain C, Rey-Conde T, Taylor M, Boyle FM, Purdie DM, et al. Cluster randomized-
controlled trial of interventions to improve health for adults with intellectual disability who
live in private dwellings. J Appl Res Intellect Dis 2010;23(4):303-11.
Lennox NG, Diggens JN, Ugoni AM. The general practice care of people with intellectual
disability: barriers and solutions. J Intellect Disabil Res 1997;41(Pt 5):380-90.
Wullink M, Veldhuijzen W, Lantman-de Valk HM, Metsemakers JF, Dinant GJ. Doctor-
patient communication with people with intellectual disability: a qualitative study. BMC
Fam Pract 2009;10:82.
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Legal concerns
Tis chapter is a general introduction to legal concerns relevant
to children and adults with developmental disability. Usually
state laws and state tribunals deal with these, although the
Family Court has a role in relation to children. While the legal
terminology varies, most state laws are consistent in their
provisions for guardianship (including substituted consent to
health care). For specifc information and advice, contact a legal
adviser or an appropriate organisation in the relevant state or
territory.
Many health care, lifestyle and fnancial decisions can be made
informally by parents and other support people. However,
some decisions (eg about certain types of health care, fnancial
management, legal action) need to be made through legal
channels. Depending on the situation, a decision may be made
by the Family Court, the state Supreme Court or the state
guardianship authority.
DECISION-MAKING FOR CHILDREN
Parents of children under 18 years of age automatically hold legal
power to make decisions on their behalf. However, parents may
no longer be able to make decisions for their child if the child is
in state care. Practitioners should ensure they understand who
can make health care decisions on behalf of the child.
A child who is sufciently intelligent and mature to fully
understand the nature and consequences of a minor medical
procedure can give valid consent. In this situation, the parents
or guardians consent is not essential. If there are doubts about
the childs capacity to consent, consideration should be given to
obtaining the parents consent.
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Certain medical interventions require legal authorisation,
whether or not the child has a disability. Tis authority may
come from the Family Court, state Supreme Court or (in some
states) the Guardianship Tribunal. Authority is needed:
for special medical procedures (eg sterilisation, organ
donation, experimental health care, gender realignment)
if parents or guardians are unable to agree about proposed
treatment
if parents or guardians refuse consent for medical treatment
that is considered necessary or appropriate for a serious
medical condition.
Key points to note are:
In some states, authority may not be needed in medical
emergencies.
Under state legislation, a parent cannot refuse a blood
transfusion for a child.
A procedure will only be authorised if:
it is in the childs best interests
less restrictive options have been explored.
Authority is not needed when sterilisation is primarily to
treat organic disease or malfunction.
In certain situations, a clinician may be contemplating a medical
procedure for a person under 18 years of age that could be
controversial. Te clinician could consider contacting the
relevant authority frst, to fnd out whether legal authorisation
is required.
DECISION-MAKING FOR ADULTS WITH
IMPAIRED CAPACITY
Making health care decisions for adults with impaired
capacity can be challenging. Ofen an adult with a disability
is accompanied to their appointment by carers or family or
friends. Sometimes the adult has the ability to make their own
health care decisions. For example, the decision might be about
minor and uncontroversial health care that is easily understood.
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However, on other occasions they may require someone else (a
substitute decision-maker) to make health care decisions for
them. Some aspects of decision-making for adults who lack
capacity are discussed below.
Can the person make their own decisions?
In general, it is presumed that adults can make their own
decisions about health care. However, some adults can not, or
have limited ability to do so. No universally accepted standard
exists for assessing capacity to make decisions about health
care. Health practitioners need to assess each persons situation
individually. A patients competency can be expressed in terms
of their capacity to:
receive, comprehend, retain and recall relevant information
integrate the information received and relate it to their
situation
evaluate benefts and harms in terms of personal values
select an option and give convincing reasons for the choice
communicate their choice to others
persevere with that choice, at least until the decision is acted
upon.
Information about a proposed examination or treatment may
need to be given in simple words. Concrete examples and
diagrams may be helpful. Te person can be asked to paraphrase
the information to check they understand. If their comprehension
is in doubt, a substitute decision-maker may be needed.
Who can be a substitute decision-maker?
When an adult is unable to make decisions about their health
care, a close relative or unpaid support person may be able to
make decisions on their behalf without a formal appointment.
Tis person may be called the person responsible or statutory
health attorney. Te parents of an adult (ie over the age of
18 years) who is unable to provide consent for health care no
longer have automatic power to make decisions for their child.
Instead, once they reach the age of 18 years, the adult child is
governed by state guardianship law. Although the parents have
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no automatic authority to make health care decisions, they may
still be the most appropriate person responsible. A paid support
person (eg a disability support worker) can not consent to
medical treatment for an adult with impaired capacity to make
decisions. When consent is not required, they can support the
adult while they receive health care.
If there is no appropriate person responsible, a guardian needs
to be appointed to make health care decisions for the person
with disability.
Privacy
Medical information is confdential between the doctor and the
patient. When medical treatment is proposed, the doctor gives
the patient sufcient information to make an informed decision.
It is important that a substitute decision-maker has access to
all this information. It is equally important that the substitute
decision-maker only receives relevant information. Tey should
not be given any other information about the patients conditions.
When is consent needed for medical treatment?
Procedures for obtaining consent vary from state to state. If in
doubt, contact the local guardianship authority.
With two exceptions, substituted consent (ie from the person
responsible or statutory health attorney) is required for all
medical treatment for an adult with impaired capacity for that
decision. Te exceptions are:
when urgent health care is required to:
meet imminent risk to the patients life or health
prevent signifcant pain or distress
when the health care is minor and uncontroversial (eg
physical examination, blood tests, noninvasive investigations
such as X-rays and ultrasound), and the adult with disability
is not objecting to the treatment by word or deed.
Consent is needed for more invasive examinations (eg vaginal)
and invasive investigations. Advice should be sought from the
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relevant guardianship authority for forensic examinations.
As for children, the person responsible (including a guardian)
cannot give consent for certain highly invasive or irreversible
procedures. Tese include termination of pregnancy, sterilisation,
participation in research and removal of nonregenerative tissue
for transplantation. Tese decisions need to be made by the
relevant guardianship tribunal.
Generally, clinical trials involving adults with impaired capacity
need to be approved by the guardianship tribunal. However,
consent for individual participation in an approved clinical trial
can be given by the person responsible, statutory health attorney
or guardian.
Procedures for obtaining consent vary from state to state. If in
doubt, contact the local guardianship authority.
All states have legal provisions that protect a medical practitioner
who gives medical treatment to an adult when relying on the
purported authority of a person to give substituted consent. Tis
protection applies if the medical practitioner did not know, or
could not reasonably be expected to have known, that the person
did not in fact have that authority.
Can the patient object to treatment?
All patients have the right to refuse medical treatment. Tis
includes adults with impaired capacity to understand what the
health care involves or why it is required. Te law recognises that
such a refusal might not be the result of an informed decision. In
this situation, the persons objection may be overridden.
Te law also allows the use of the minimum force that is neces-
sary and reasonable to carry out treatment, but two conditions
apply. Tese are that the:
beneft of the treatment outweighs the harms
potential discomfort is minimal, compared with the potential
benefts of treatment.
Te substitute decision-makers consent is needed beforehand,
except in an emergency.
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When does a guardian need to be appointed?
All states and territories provide for a guardian to be appointed
by the guardianship board or tribunal. Te appointment can
authorise the guardian to make some or all decisions about the
persons health care and/or lifestyle (eg where the person lives,
and with whom). Situations when a guardian may be needed
include when:
there is no appropriate person responsible or statutory health
attorney to make health care decisions
the health care provider doubts the authenticity of a person
claiming to be the person responsible or statutory health
attorney
the decisions of the person responsible or statutory health
attorney do not seem to be in the best interests of the adult
they are assisting
the proposed treatment is disputed (eg between patient and
doctor, between relatives, between health care professionals)
the proposed treatment or procedure is ethically contentious.
How is a guardian appointed for adults?
Te guardianship tribunal in each state appoints guardians for
adults (when necessary). Sometimes they also make decisions
about specifc treatments.
An initial hearing may be needed to establish that the adult with
disability has impaired capacity to make informed decisions.
Reasons for this impairment may include dementia, head injury,
intellectual disability, inability to communicate and mental
illness. Medical evidence is always required about:
the nature of the persons condition or disability
how the condition or disability afects the persons capacity to
make informed decisions.
Evidence may be given by the persons general practitioner or a
specialist on their condition or disability.
Guardianship tribunals prefer to appoint a parent, relative or
close friend as the adults guardian. If no such person has been
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nominated or considered appropriate, a public ofcial can be
appointed. Tey may be called the public advocate, public
guardian or adult guardian, depending on the state or territory
of Australia. Tis public ofcial can make health care and/or
lifestyle decisions for the adult. Tese ofcials are a useful source
of information and advice.
A guardian or other person responsible is required to make
decisions in the best interests of the person with disability. If
there is doubt about a decision, application can be made to the
guardianship tribunal to review the:
guardianship appointment
decision.
ABUSE
People with developmental disability are particularly vulnerable
to sexual abuse (both men and women), psychological abuse
and physical abuse. Abuse may not be apparent, and so its efect
on the person and their treatment may be missed. Abuse may
occur at the persons school, work or home, and may contribute
to the development of psychiatric or behavioural disturbances.
Although it is not mandatory to report suspected abuse of
adults with a disability, serious consideration should be given
to doing so.
Sexual abuse and exploitation
People with developmental disability are vulnerable to sexual
abuse and exploitation. Tis is ofen one of the main concerns
of parents and other support people. Sexual abuse is more likely
because people with developmental disability:
ofen do not understand what is happening to them
are less able to protect themselves
are unlikely to report the abuse
are less likely to be believed if they do report the abuse.
If a clinician considers that a patient with disability may be subject
to sexual abuse or exploitation, they should consider a referral to
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an agency that counsels victims of sexual abuse. In some states it
is mandatory to report suspected sexual abuse of children to the
appropriate authorities. For requirements, contact the human
services or health departments of the relevant state or territory.
DISABILITY DISCRIMINATION
Under the federal Disability Discrimination Act 1992, it is
unlawful to treat a person unfairly because of their disability.
Fair treatment applies to a range of situations, including medical
and dental services.
Discrimination can be direct or indirect. Direct discrimination
is when a person with disability is treated less favourably than a
person without disability (eg refusing to treat a person because
of their disability). Indirect discrimination may occur when a
person with disability is denied treatment because they cannot
meet one of its requirements (eg performing a test, completing
a form).
DUTY OF CARE
Te duty imposed by law on health care providers is beyond
the scope of this book. Te principles that apply to care of all
patients apply to people with disability.
A person with disability is entitled to the same level of care and
treatment as anyone else.
When a person has intellectual and physical disability, their
medical care can require complex decisions. Te situation may
be compounded by communication difculties and the need
to liaise with intermediaries (eg families, support people, care
organisations). Decisions to reduce or withdraw treatment on
the basis of perceived quality of life are especially difcult, and
may have ethical and legal consequences.
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ENDURING GUARDIANSHIPS, ENDURING
POWERS OF ATTORNEY AND ADVANCE HEALTH
DIRECTIVES
In most states of Australia, a person can authorise someone
to make decisions about their health care and lifestyle if they
become incapable of making their own decisions. Te document
giving this authority may be called an enduring guardianship
or an enduring power of attorney. Te name of the document
difers between the states.
Some states allow a person to make an advance health directive.
Tis documents the circumstances in which they want certain
forms of treatment to be provided or withheld, and may include
provision about withholding life-sustaining medical treatment.
Each of these documents may be encountered when treating an
adult with disability acquired during their life (eg head injury or
psychiatric disorder). A certain intellectual capacity is needed to
complete the paperwork. Terefore an adult with more severe
intellectual disability is unlikely to have these documents in place.
SEXUAL OFFENDING BEHAVIOUR
Sexual ofending behaviour (ie sexual abuse and/or sexual
exploitation) does occur in people with developmental disability,
as in the rest of the community. Multiple social infuences are
responsible for any person (with or without developmental
disability) becoming a sexual ofender. A high sex drive is not
the cause.
Alleged abuse should be reported to the appropriate authorities.
People suspected of perpetrating sexual abuse should be referred
for specialist treatment, which can be accessed through state
disability ofces.
It is inappropriate to prescribe antiandrogens (eg medroxy-
progesterone and cyproterone) to curtail sexual libido. If these
drugs are warranted and the person is unable to give informed
consent, in most states permission must be obtained from the
guardianship authorities.
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LEGAL RESOURCES
Information about legal requirements for adults is available
from state and territory guardianship authorities. Te law varies
from state to state, particularly for making decisions about end
of life. Some guardianship authorities (for example the Adult
Guardian in Queensland) have a 24-hour information line for
urgent matters.
Contact details for legal resources are listed below. See also
information on disability resources for each state.
Contact information
Following is a list of guardianship authorities, tribunals and
other relevant organisations. Public Trustees may be appointed
to make decisions on behalf of an adult about their fnances and
property interests.
Australian Capital Territory
Australian Capital Territory Civil & Administrative Tribunal
(ACAT): Guardianship and Management of Property
Telephone (02) 6207 1740
Public Trustee for the ACT
Telephone (02) 6207 9800
Public Advocate of the ACT
Telephone (02) 6207 0707
New South Wales
Guardianship Tribunal
Telephone (02) 9556 7600
Telephone 1800 463 928
NSW Trustee & Guardian
Telephone 1300 364 103 (trustee services)
Telephone 1300 360 466 (managed clients)
NSW Public Guardian
Telephone (02) 8688 2650
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Northern Territory
Executive Ofce of Adult Guardianship
Telephone (08) 8922 7343 (Darwin)
Telephone (08) 8951 6028 (Alice Springs)
Ofce of Public Guardian
Telephone (08) 8922 7116 (Darwin)
Telephone (08) 8951 6741 (Alice Springs)
Ofce of the Public Trustee
Telephone (08) 8999 7271
Queensland
Queensland Civil and Administrative Tribunal (QCAT)
Ofce of Adult Guardian
Telephone (07) 3234 0870
Ofce of the Public Advocate
Telephone (07) 3224 7424
Te Public Trustee
Telephone (07) 3213 9288
South Australia
Guardianship Board
Telephone (08) 8368 5600
Telephone (08) 8342 8200
Public Trustee
Telephone (08) 8226 9200
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Tasmania
Guardianship and Administration Board
Telephone (03) 6233 3085
Ofce of the Public Guardian
Telephone (03) 6233 7608
Public Trustee
Telephone (03) 6233 7598
Victoria
Victorian Civil and Administrative Tribunal (VCAT):
Guardianship List
Telephone (03) 9628 9911
TTY (03) 9603 9529
State Trustees
Telephone (03) 9667 6466
Western Australia
State Administrative Tribunal (SAT): Guardianship and
Administration
Telephone (08) 9219 3111
Public Trustee
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Informing parents of their childs disability 50
Informing parents of their
childs disability
A childs disability is sometimes apparent at birth, but ofen
the diagnosis is not made until months or years later. Parents
are ofen dissatisfed with how they are told their child has a
disability. Te recommendations in this chapter are based on
feedback from them. Most of the principles apply no matter
how old the child. Te person delivering this news may be an
obstetrician, paediatrician or general practitioner (GP).
For parents, the grieving process that is ofen associated with
giving birth to a child with disability may be prolonged. It may
also recur at times during the childs life. Tese include when:
the child is sick
delay in developmental milestones is noticed
another child is born
access to various systems is sought (eg kindergarten, primary
school, high school)
other family stressors arise
the child begins puberty and becomes sexually aware
other important transitions take place (eg starting school,
leaving school).
GENERAL PRINCIPLES
General principles to follow when informing parents of their
childs disability (regardless of when the diagnosis is made)
are listed below. See also advice specifc to the childs age at
diagnosis.
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When to convey the news
Parents are ofen aware that something is wrong with their
child. Withholding information (even when all the facts are not
known) prolongs their concern.
Inform parents as soon as their childs disability is suspected.
Parents dont expect exact answers, but do appreciate being told
it is possible their child has a disability and why this is suspected.
Location and people present
Some preparation is needed when telling parents their child
has a diagnosis of developmental disability. Choose a private
location where it is possible to talk without interruption. Create
a supportive environment in which the parents can express their
emotions and concerns. Exclude unnecessary people. Include:
both parents (and the child, if newborn)
experienced staf (if possible) to convey the news
a staf member who can help the family in the days or months
afer this interview (eg nurse, social worker, physiotherapist)
someone (eg early intervention staf member), if the child is
older, who can continue to be important in their life
a trained interpreter if English is not the parents frst language
(avoid relying on friends or family members to translate).
Other staf need to be informed that this discussion is taking
place. Tis enables them to be supportive of the parents and
prepared to discuss the childs situation with them.
Formal assessment for developmental delay in older children may
involve contact with a variety of services (eg early intervention
agencies and other professionals [eg speech pathologists]). It is
important that these key staf have a basic knowledge of:
what processes are involved in the assessment
how to respond to parents questions.
A resource is available through the Disability Specialist Unit,
Te Childrens Hospital at Westmead, to support staf in these
conversations. GPs may also fnd it helpful.
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Manner and content of delivery
Even if the news is upsetting, most parents want to know as much
as possible about their childs disability (eg cause, prognosis).
Parents may respond with a range of emotions. Tey greatly
appreciate it if the person delivering the news:
shows understanding
empathises with their pain
is comfortable with whatever emotions they express.
Few details of what is said will be remembered, but the way it is
said may never be forgotten.
Ensure there is enough time to answer all the parents questions
and concerns. When speaking:
present information in a direct and honest manner
give a balanced view of the disability and what it may mean
for the childs future
emphasise the childs positive features, and avoid negative
stereotypes
ask parents about their main concerns, and always check they
understand what has been said
be open if you cant answer some questions or give specifc
information. Ofer your thoughts and the reasoning behind
them instead.
Allow room for hope. Ofen, parents want to know how
they can help their child. Discussing possible interventions
(eg physiotherapy, speech pathology, special education) is
constructive and reassuring.
Ongoing support
Parents appreciate being ofered relevant, up-to-date written
material on diagnosis, treatment and community resources.
Give them a written report of any assessment or diagnosis. Tis
should include the positive aspects of the childs health, abilities
and prognosis. Provide details of any relevant websites. Ofer
to contact relevant support groups or other parents of children
with disability.
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Schedule a follow-up appointment for further discussion.
Te support of a GP who has a positive attitude towards the child
and their parents can be invaluable. Te immediate postnatal
period is a time of transition and adjustment, and depression
is common. Te GP should be kept informed by all people in-
volved in care of the child.
ADVICE SPECIFIC TO AGE AT DIAGNOSIS OF
DISABILITY
Te advice below is specifc to the age at which disability is
diagnosed, and should be followed with the general principles.
Diagnosis at birth
When a childs disability is detected at birth, frst their parents
need to be told. Ten the family needs support and information.
Deliver news of the childs disability as soon as possible, except
when the mother is not well.
First hours after birth
Te initial reaction of medical staf can have a lasting efect on
the parents of a child born with disability. It is important for staf
to be sensitive to parents needs, while remaining positive and
nonjudgmental.
Central to the parents is acknowledgment, through word or
deed, that:
their child is valued
they, as parents of this child, are respected.
Parents and medical and nursing staf should be given every
opportunity to interact with the child.
Te child should stay with the mother, where possible.
When frst speaking with the parents about their childs disability,
the child should be present. Parents appreciate it when the
person who is delivering the news handles the child in a positive
and caring manner.
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Parents should be seen by a paediatrician/obstetrician. Tey
should also be seen by someone (eg nurse, social worker) who
can help them adapt to, or understand, the news of their childs
disability.
An appropriate introduction is:
Hello I am Dr and I have just examined [the babys name]. Ive
found several features that suggest [babys name] has . Do you
know what is?
It is important to:
avoid giving negative nonverbal messages about the child
explain what will happen in the immediate future
arrange a follow-up meeting within 24 hours.
Be prepared for a range of reactions from the childs parents.
Tey may want to be lef alone or they may immediately have
questions.
Days after birth
Be alert to the emotional needs of the family and any additional
information they may need. Communication between the
family and doctors and other support staf is most important
at this time. Repeat information a number of times if necessary.
Provide the family with access to a hospital social worker,
information about support services, and any necessary referrals.
It is also important to:
maintain confdentiality
inform senior staf what the parents have been told
ensure other staf are aware of the needs and rights of the
parents and child.
Te parents may like to contact relevant organisations that
provide information and support. Tese are listed at the end of
the chapters on specifc disabilities (eg Down syndrome).
Recognise that parents may not be able to support each other at
this time.
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Diagnosis later in life
Ofen a childs disability is not evident at birth. Tey may need
repeated assessments over many months or years before their
diagnosis is confrmed. Tis may cause their family considerable
concern and uncertainty.
In addition to the advice in general principles, consider the
following factors when informing parents of the childs eventual
diagnosis of disability:
Parents appreciate receiving the news from someone who
knows the child, or is knowledgeable about the disability.
When the child is older, parents may or may not want
the child to be present when their diagnosis is discussed.
Tis depends on a range of factors (eg childs level of
comprehension, likely emotional reaction of their parents).
Give parents the option of bringing their child.
When the disability or prognosis is unclear, try to give
descriptive information about the childs disability.
Appropriate information includes:
information on brain functioning
areas and functions most afected in the child, and their
strengths
likely efect of the disability on the childs life.
Consider giving a written report to the parents and other relevant
people at a later time.
Conversations with parents at the time of diagnosis: a resource for early intervention staff.
Sydney, NSW: The Childrens Hospital at Westmead; accessed June 2012. [1526 KB]
Ahmann E. Review and commentary: two studies regarding giving bad news. Pediatr Nurs
1998;24(6):554-6.
Australian Society for the Study of Intellectual Disability. Guidelines to follow when a child
with a disability is born. North Ryde, N.S.W.: Australian Society for Study of Intellectual
Disability; 1984.
Baird G, McConachie H, Scrutton D. Parents perceptions of disclosure of the diagnosis of
cerebral palsy. Arch Dis Child 2000;83(6):475-80.
Cottrell DJ, Summers K. Communicating an evolutionary diagnosis of disability to parents.
Child Care Health Dev 1990;16(4):211-8.
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Glaun DE, Cole KE, Reddihough DS. Mother-professional agreement about developmental
delay in preschool children: a preliminary report. J Appl Res Intellect Dis 1999;12(1):69-
76.
Graungaard AH, Skov L. Why do we need a diagnosis? A qualitative study of parents
experiences, coping and needs, when the newborn child is severely disabled. Child Care
Health Dev 2007;33(3):296-307.
Hasnat MJ, Graves P. Disclosure of developmental disability: a study of parent satisfaction
and the determinants of satisfaction. J Paediatr Child Health 2000;36(1):32-5.
Hatton C, Akram Y, Robertson J, Shah R, Emerson E. The disclosure process and its impact
on South Asian families with a child with severe intellectual disabilities. J Appl Res Intellect
Dis 2003;16(3):177-88.
Miller LJ, Hanft BE. Building positive alliances: partnerships with families as the cornerstone
of developmental assessment. Infants Young Child 1998;11(1):49.
Nissenbaum M, Tollefson N, Reese MR. The interpretative conference: Sharing a diagnosis
of autism with families. Focus Autism Other Dev Disabl 2002;17:30-43.
Pearson D, Simms K, Ainsworth C, Hill S. Disclosing special needs to parents. Have we got
it right yet? Child Care Health Dev 1999;25(1):3-13.
Skotko BG, Kishnani PS, Capone GT. Prenatal diagnosis of Down syndrome: how best to
deliver the news. Am J Med Genet A 2009;149A(11):2361-7.
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Assessing developmental delay and disability 57
Assessing developmental
delay and disability
I didnt want to hear the diagnosis, but I now know it was
right (parent).
Some children are identifed at birth, or even before, as being at
high risk of developmental problems (eg children with Down
syndrome). However, in most cases the developmental delay
becomes evident during the frst few years of life. Ninety-fve
per cent of parents initially seek advice from their general
practitioner (GP). Many parents correctly recognise their child
has problems, but dont know what the specifc problem is or
where to get help. In all cases of signifcant developmental
problems, children need timely diagnosis and intervention.
Developmental disabilities are usually diagnosed by the time the
child is 6years old. Lifelong health monitoring is important to
assess changes in functioning and secondary health problems.
Advances in diagnostic technology might enable the cause to be
determined later, even in adult life. A developmental (including
intellectual) disability should be considered in any child
presenting with signifcant learning, academic or behavioural
problems.
All children with a disability grow and learn. Te rate and
limitations of their skill acquisition are determined by the degree
of their disability. Each child has their own pattern of learning
strengths and weaknesses (eg weak verbal skills, stronger
nonverbal skills). Tis learning style tends to remain consistent
throughout life. Te rate of development should be considered
when predicting prognosis.
Increasingly, developmental surveillance is being used to detect
problems early. Tis may involve using a tool such the Parents
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Evaluation of Developmental Status (PEDS), followed by
secondary screens (eg the Ages and Stages Questionnaire [ASQ]
or the Brigance Developmental Screening Tool).
*
A screening
program is only efective if the child identifed to have problems
with their development can access intervention. GPs and early
childhood nurses tend to be the main professionals involved in
developmental screening and referral for further assessment or
intervention.
For a person to be diagnosed with developmental disability, the
disability must be present before they are 18years old. However,
sometimes an adult with a disability might not see their
doctor regularly, or lives a relatively secluded life with elderly
parents. It is possible they have not had a formal diagnosis of
developmental disability. Tey may not have received the help
that might have enabled them to develop more independence
skills. Also, they may have health conditions that have not been
identifed. Reasons for presenting to their GP might include
decline in functional status.
Te childs developmental trajectory is important. Signs of
developmental regression are indicators for urgent detailed
paediatric assessmentthis should include assessment for
neurological or metabolic conditions. At any age, if the person
cant perform established skills or develops new challenging
behaviours, a thorough functional and medical assessment is
warranted.
CAUSES OF DEVELOPMENTAL DELAY AND
DISABILITY
Most developmental disabilities are due to factors that are oper-
ative before the onset of labour, particularly chromosomal and
other genetic abnormalities. Tese can cause subtle abnormal-
ities of brain development or function that may not be readily
*
Advice on selecting the most appropriate paediatric developmental screening
instrument.
Information on the Parents Evaluation of Developmental Status (PEDS) screening test

and links for ordering the Ages and Stages Questionnaire and the Brigance screens.
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detected, even with neuroimaging. A range of neurological
functions may be impaired that afect the persons ability to
function in everyday life. Common disability categories include:
motor functioning (eg cerebral palsy)
cognitive functioning (eg intellectual disability)
social functioning (eg autism spectrum disorder)
sensory functioning (vision or hearing impairments).
Frequently more than one area of functioning is afected.
Knowing the cause of the persons disability has several benefts,
including giving information about how the disability occurred.
Tis is important for the person with the disability, their family
and their health care providers. It:
indicates possible future development or health problems
allows risk of recurrence in future children to be predicted
directs health care providers to specifc information relevant
to the persons medical care (eg increased risk of thyroid
dysfunction, depression and dementia in people with Down
syndrome)
enables families to locate information about the condition
and fnd support groups.
Up to 50% of children with developmental disability may have
the cause identifed. Tis is more likely in the presence of:
more severe disability
abnormal physical signs on examination
specifc factors (eg maternal infection, ingestion of alcohol
during pregnancy).
Severe perinatal problems are associated with increased risk of
developmental problems, or academic problems when the child
starts school. Sometimes the distress observed during birth
refects that the baby is already neurologically compromised.
Table 1 lists some causes of developmental disability.
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Table 1. Causes of developmental disability
Category Examples
prenatal genetic Down syndrome, Angelman syndrome, Prader-
Willi syndrome, fragile X syndrome, tuberous
sclerosis, phenylketonuria, mucopolysaccharide
storage disorders, some malformations of
cortical development (eg lissencephaly,
periventricular nodular heterotopia)
acquired
infection
toxins
other
congenital rubella, toxoplasmosis,
cytomegalovirus
fetal alcohol syndrome
iodine deciency
unknown dysmorphic syndromes, single malformation (eg
microcephaly), multiple minor anomalies
perinatal hypoxic-ischaemic encephalopathy, infection (eg
meningitis, encephalitis)
postnatal infection, trauma, hypoxia, poisoning
MANIFESTATION OF DEVELOPMENTAL DELAY
AND DISABILITY
Te range of normal development is wide. Developmental
delays are suspected if a child fails to achieve key developmental
milestones by the usual age (see Table 2 and additional detail
and checklists for parents from the Centers for Disease Control
and Prevention). Delays may afect most or all skills, or else
predominantly afect one domain (eg language). Although the
term delay is commonly used, many children with signifcant
delay do not ever catch up to their peers. In this situation (ie
when the clinician is confdent that the child wont catch up), it
is preferable to use the term disability.
Walking, talking, self-caring, relating to other people, seeing,
hearing and learning all require neurological skills. People with
developmental disability may present with delay in one or more
of these areas (see Table3).
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Table 2. Normal development in children
Age Skills attained
6 months alert and responsive, smile and laugh appropriately and
become fearful of strangers
respond to sound by turning towards the source and vocalise
using a variety of sounds
visually x on an object and follow it through 180 degrees
pick up objects with a palmar grasp and self-feed nger foods
sit momentarily with a straight back and hold the head steady
12 months indicate their wants through sound and gesture
say at least two words with meaning and imitate a range of
speech sounds
pick up small objects with a thumbnger grasp and transfer
toys from hand-to-hand
sit independently, crawl and pull themselves up
enjoy cause and effect of play
2 years often oppositional
eat with a spoon, remove some clothes and start to develop
make-believe play and imitate their parents activities
speech includes two-word phrases
scribble and build a tower of four 2.5 cm cubes
walk well, run and manage steps
enjoy playing alongside other children
3 years increasingly independent in their personal carebrush their
own teeth (with little help), put on some items of clothing
sociable and can name a friend
speak in short sentences and point to pictures and name them
imitate a vertical line drawn on paper and build a tower of
eight 2.5 cm cubes
kick and throw a ball
interact with other children during play, mimic adult activities
and mannerisms, play imaginary and creative games
5 years dress and undress independently
speak clearly in sentences, understand some prepositions and
name colours
copy a circle and cross, draw a primitive person
good motor skillscan run, climb, hop, pedal a tricycle
play quite well-developed imaginary games and simple board
and card games, good conversational skills in play
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Table 3. Manifestations of developmental delay
Area of
development
affected
Manifestation Possible
neurodevelopmental
diagnoses
global delays in most areas intellectual disability,
deafness, blindness,
cerebral palsy
motor late walking, motor delay,
persistent primitive reexes
cerebral palsy,
neuromuscular disorder
language speech delay, limited
understanding, unusual or
inappropriate use of language
specic language disorder,
hearing impairment,
autism, intellectual
disability
behaviour excessive irritability, reduced
or increased activity,
aggression, sleep disturbance,
odd or obsessive behaviour,
narrow or unusual play
patterns, interpersonal
difculties, social isolation
autism, attention decit
hyperactivity disorder,
intellectual disability
Comorbidity is common. A child with one developmental dis-
ability ofen has another problem. For example, close to half the
population of children with intellectual disability has mental
health problems.
ASSESSMENT
A comprehensive approach is particularly important at formal
assessment. It may also be relevant for the GP during develop-
mental surveillance. Te following factors should be included:
developmental or cognitive abilities, by standardised
assessment
adaptive or everyday abilities, by standardised assessment
behavioural problems, especially those that may suggest a
phenotype (eg autism spectrum disorder)
cause, with emphasis on testing for genetic problems
hearing and vision
chronic, undetected or undertreated general health condi-
tions (eg epilepsy)
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psychosocial factors (eg lack of fnancial resources may
contribute to family stress)
other relevant family factors (eg other family members with
intellectual disability).
Approach to parents during their childs
assessment
Te following factors should be considered when assessing a
child with suspected developmental disability or delay:
Allow sufcient time to conduct the assessment, discuss the
results with the parents/support people, and address their
concerns. Te possibility that something is wrong with their
daughter or son is a major anxiety for parentsthey may
have spent months (or even years) worrying about this, and
need time to talk about it.
Be aware of the parents journey and the efect on them
of professional and community opinions expressed before
formal diagnosis.
Anticipate that parents may have heightened anxiety,
especially at the time of assessment. Tey are likely to go
through a range of emotions as they learn about their childs
disability and come to terms with it.
History
When assessing a child or adult with possible developmental
delay or disability, it is important to discuss the parents concerns
in detail, and take a comprehensive developmental history (see
Table 4). It is also important to identify how the child interacts
and what skills they show in other environments (eg preschool).
Tis information may be available from a preschool or school
report, but sometimes direct observation is needed.
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Table 4. Features of history when establishing cause
and developmental pattern of a disability
Category Topics
antenatal previous obstetric
history
spontaneous abortions, stillbirths,
neonatal deaths
antepartum bleeding placental abruption, placenta praevia
infections rubella status, rash, fever,
nonspecic illness, known exposure
drug ingestion medication, alcohol, nicotine, illicit
drugs
labour and delivery childs gestation, presentation, mode
of delivery, obstetric complications
and management
neonatal condition at, and soon
after, birth
Apgar scores, resuscitation required,
weight, length, head circumference,
congenital anomalies, health in the
neonatal period
jaundice degree of jaundice, treatment
infection site of infection, antibiotics used
feeding difculties duration, management
infancy feeding feeding difculties, muscle tone
behaviour irritability, sleep patterns
childhood behaviour irritability, sleeping, eating
play social interest and skill (compared
with peers), make-believe play, range
of interests and activities
developmental
milestones
smiling, sitting, walking, rst words
general parental concerns about
development, hearing or vision;
serious head injury or neurological
problem (eg epilepsy, meningitis)
current
abilities
ability pattern education, self-care, language,
social, motor, sensory, behaviour
family
history
general parents education, family history
of conditions (developmental,
psychiatric or genetic) that may
affect developmental progress
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Examination
Physical examination aims to:
identify signs that might suggest the underlying cause of the
disability (eg microcephaly)
identify conditions that may contribute to a poorer outcome
(eg pallor from iron defciency, poor hearing)
identify conditions that might arise from the disability (eg
poor dental hygiene due to poor cooperation with teeth
brushing)
provide an informal estimate of developmental skills.
When performing a general physical examination, check:
height, weight and head circumference (chart these against
the age norms)
dysmorphic features of the face, hands, feet, fngers and toes
(multiple dysmorphic features are more likely to represent an
underlying syndrome)
ears, eyes (including visual acuity)
heart, lung felds
abdomen (including pubertal development)
skin (look for pale or pigmented patches, neurocutaneous
stigmata).
As part of this physical examination, it is also important to check:
neurological function
abnormalities of gait, limbs and cranial nerves.
Developmental and cognitive assessment tools
Developmental assessment tools in common use include the
Bayley Scales of Infant Development and the Grifths Mental
Development Scales.
Cognitive assessments in common use include the Wechsler
Intelligence Scales (for preschool children, older children and
adults) and the Stanford Binet Intelligence Scales.
To determine if an assessment is valid and can be used to
predict the childs development in the longer term, consider the
following questions:
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Are the skills seen in the formal assessment typical of those
seen at other times?
Was the child fuent in the language used for testing?
Can the child see and hear?
Was the child unwell at the time of the assessment?
Has the child had normal opportunities to learn and
develop (eg attend preschool, play with other children in
their community, participate in family functions)?
How old is the child?
Was the assessor skilled in testing young children?
Investigations
All children with intellectual disability should have genetic
testing. First-line investigations include comparative genomic
hybridisation (CGH) array (genome-wide microarray) and
DNAtesting for fragileX syndrome. Other specifc genetic tests
may be considered if physical signs are suggestive.
Before genetic tests are ordered, possible implications of the
result (for the child and for other family members) need to
be explained in detail. Tese include establishing paternity,
identifying cancer genes, and fnding an abnormality that may
not explain the disability.
Tests such as magnetic resonance imaging (MRI) and
electroencephalography (EEG) are performed if there are
specifc indicators. Many children have other routine tests (eg
thyroid function, creatine kinase concentration, urine metabolic
screen). Dietary defciencies (eg limited meat) may suggest
testing vitamin or mineral (eg iron) concentrations.
DISCUSSING THE DIAGNOSIS WITH PARENTS
Te way the diagnosis of developmental disability is discussed
with the childs parents is important (see advice). Tey are
likely to need repeated opportunities to ask questions, seek
clarifcation and receive detailed explanations. Parents may need
to discuss the diagnosis and their concerns for at least 2months.
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Te reality of their childs disability may become more apparent
at signifcant life transitions (eg transition from school to adult
life).
FURTHER ASSESSMENT AND REFERRAL
When developmental disability is suspected or identifed, it may
be appropriate to involve a specialist in the area. For children this
is ofen a paediatrician. Other relevant specialists may include
developmental therapists, neurologists, metabolic physicians,
geneticists, rehabilitation physicians or designated disability
management teams. Tey can assist with diagnostic testing,
intervention and treatment recommendations. Useful referrals
and the information they may provide are in Table 5 below.
Te GP needs to remain involved and informed about the persons
health and developmental difculties, to ensure continuity and
breadth of care. Efective communication between the GP and
others involved is central to good management.
Table 5. Useful referrals when assessing develop-
mental delay and disability
Referral Purpose
paediatrician detailed assessment of development and any associated
disabilities
information about diagnosis, cause and implications
ongoing role in planning, monitoring, consultation and
review
information about services
geneticist information about cause and genetic implications
psychologist information about the childs level of intellectual
functioning and areas of relative ability and difculty
strategies for building skills
advice on managing challenging behaviours
assistance to family members in coming to terms with the
implications of the childs disability
speech
pathologist
speech and language assessment
strategies to help develop communication skills
swallow assessment
continued next page
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Table 5. Useful referrals when assessing develop-
mental delay and disability (cont.)
Referral Purpose
physiotherapist assessment of motor function
strategies to help motor function
advice on appropriate aids and equipment
occupational
therapist
assessment of ne motor and self-care skills
strategies to help ne motor skills and self-care
advice on appropriate aids and equipment
early
intervention
services
access to a range of therapists and other professionals
for family support, assessment, practical assistance,
information and supporting inclusion into mainstream
services
Intellectual disability [internet fact sheet]. Melbourne: Better Health Channel, Victorian
Department of Human Services; accessed June 2012.
Cunningham CC, Morgan PA, McGucken RB. Downs syndrome: Is dissatisfaction with
disclosure of diagnosis inevitable? Dev Med Child Neurol 1984;26(1):33-9.
Einfeld SL, Piccinin AM, Mackinnon A, Hofer SM, Taffe J, Gray KM, et al. Psychopathology
in young people with intellectual disability. JAMA 2006;296(16):1981-9.
Glascoe FP. Screening for developmental and behavioral problems. Ment Retard Dev
Disabil Res Rev 2005;11(3):173-9.
Herring S, Gray K, Taffe J, Tonge B, Sweeney D, Einfeld S. Behaviour and emotional
problems in toddlers with pervasive developmental disorders and developmental delay:
associations with parental mental health and family functioning. J Intellect Disabil Res
2006;50(Pt 12):874-82.
Ho HH, Miller A, Armstrong RW. Parent-professional agreement on diagnosis and
recommendations for children with developmental disorders. Child Health Care 1994;
23(2):137-48.
Jones KL. Minor anomalies as clues to more serious problems and toward the recognition
of malformation syndromes. In: Smiths recognizable patterns of human malformation.
4th ed. Philadelphia: W.B. Saunders; 1988. p.662-81.
Matilainen R, Airaksinen E, Mononen T, Launiala K, Kaariainen R. A population-based study
on the causes of mild and severe mental retardation. Acta Paediatr 1995;84(3):261-6.
Palmer FB. The developmental history. In: Capute AJ, Accardo PJ, editors. Developmental
disabilities in infancy and childhood. 2nd ed. Baltimore (MD): Paul H Brookes Publishing
Co.; 1996. p.271-82.
Rydz D, Srour M, Oskoui M, Marget N, Shiller M, Birnbaum R, et al. Screening for
developmental delay in the setting of a community pediatric clinic: a prospective
assessment of parent-report questionnaires. Pediatrics 2006;118(4):e1178-86.
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Shevell M, Ashwal S, Donley D, Flint J, Gingold M, Hirtz D, et al. Practice parameter:
evaluation of the child with global developmental delay: report of the Quality Standards
Subcommittee of the American Academy of Neurology and The Practice Committee of
the Child Neurology Society. Neurology 2003;60(3):367-80.
Sloper P, Turner S. Determinants of parental satisfaction with disclosure of disability. Dev
Med Child Neurol 1993;35(9):816-25.
Stromme P. Aetiology in severe and mild mental retardation: A population-based study of
Norwegian children. Dev Med Child Neurol 2000;42(2):76-86.
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Managing a child with developmental disability 70
Managing a child with
developmental disability
Hes not going to do anything like you or mebut we dont
rule anything outhe may never be able to do things...I
dont want to look too far into the futureWe want him
to be happy, to interact with his sisters, experience life
as best he canto laugh and smile (father of a 3-year-
old boy with profound developmental disability).
Children with disabilities should be supported by health services
to reach their potential. Tey should fully enjoy all human
rights and fundamental freedoms on an equal basis with other
children.
*
Tree general principles should underlie the approach to
managing a child with developmental disability. Tese are:
children frst
the child lives with their family and is part of their community
the childs early development is supported in the context of
their likely long-term development.
Children should have the opportunity to:
live in a family home
have access to the supports they need
grow up enjoying nurturing adult relationships inside and
outside a family home
enjoy typical childhood relationships and friendships:
learn in their neighborhood school in a general education
classroom that contains children of the same age without
disabilities
*
United Nations Enable. Convention on the rights of persons with disabilities. Children
with disabilities [article 7]. New York, NY: UN Secretariat for the Convention on the
Rights of Persons with Disabilities; 2006.
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participate in the same activities as children without
disabilities
play and participate with all children in community
recreation
participate fully in the religious observances, practices,
events, and ceremonies of the familys choice.
*
Children with disabilities should live with their family. Te
carer, most ofen the parent, must be respected and invited to
participate in the health care of their child.
Developmental disability is a long-term condition in which the
functioning of the child in everyday life is impaired. Te child
does make developmental progress. However, the pattern of their
disability usually does not change, nor does their ability relative
to their peers. Te childs strengths should be encouraged, and
weaknesses addressed. At the same time, it is important to
know what the child can do, given the degree of their disability.
Learning specifc skills (eg toileting) may be goals for the childs
family. But sometimes the efort needed to acquire these skills
may be high, or even unrealistic. Parents need to know what
skills the child is likely to achieve (eg catch a familiar bus, dress
independently).
Maximise areas of strength and competence in a child with
In a child with disability, it is important to identify:
areas of strength, competence and ability (build on them to
promote self-esteem, autonomy and participation)
impairments and disabilities (work to minimise their efects
on function).
INTERVENTION
Terapists, psychologists, teachers, equipment technicians,
paediatricians and general practitioners (GPs) are involved in
intervention services. Some examples of interventions are listed
in Table 6.
*
Inclusion: joint position statement of AAIDD and The Arc. Washington, DC: American
Association on Intellectual and Developmental Disabilities; 2009.
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Table 6. Interventions to minimise developmental
problems
Developmental
problem
Intervention
mobility
impairment
provide splints, walking aids, wheelchairs
give therapy to reduce muscle tone
teach other motor skills (eg how to kick a ball, ride a
bike)
train to use a switch (as a prerequisite to using an
electric wheelchair)
communication
impairment
encourage efforts to communicate
teach to use symbols, signs, visuals (eg Picture
Exchange Communication System)
*
train to use a switch (as a prerequisite to using a
computer-based communication aid)
slow learning divide tasks into simple component parts
simplify tasks and instructions
modify expectations
specic learning
disorders (ie
uneven ability
patterns)
modify approaches to tasks, to concentrate on skills and
overcome (or bypass) weaknesses
use oral teaching techniques, taped books, calculators,
laptop computers
offer oral rather than written examinations, scribes for
written examinations
interpersonal
difculties
teach basic interpersonal skills
provide simple written advice on how to approach
interpersonal situations
increase structure in the childs environment
*
Information on using Social Stories.
SERVICES FOR THE CHILD AND FAMILY
Service providers for the child with disability and their family
vary from state to state. A number of core disability services are
delivered by state government departments (ofen the Depart-
ment of Human Services or the Department of Community
Services, sometimes referred to as the lead agency) and
government-subsidised agencies. Services may vary for children
of diferent ages. Each service has its own eligibility criteria.
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For contact details of Commonwealth and state services, see
disability resources. Te raising children network has links to
services and resources for parenting children from babies to
teenagers, including those with special needs.
Te array of services is ofen confusing for the family of a child
newly diagnosed with disability. Tey may feel under pressure to
participate in multiple programs in an attempt to do everything
possible for their child. Parents have access to the internet, and
are more aware of what is available than in the past. Tey need
to be fully informed. Ten they can make rational decisions for
their child that consider fnancial costs, time involved and likely
outcomes.
Core service needs for the child and their family include:
information (about services and the childs condition)
counselling (ongoing family need; ofen met through
peer contacts, professionals working with the child, and
professional counsellors)
consumer and parent support groups
recreation (services to include children in regular programs,
special groups)
respite care (centre-based, home-based, fexible community
access or a combination)
therapy and education to maximise the childs function and
skills.
Practical assistance is another important service area, and
includes:
fnancial assistance (compensation for families for extra costs
and loss of income eg Centrelink allowances and payments
for carers, benefts and payments for people with disability)
equipment
community access (subsidised transport, parking concessions,
car seating, vehicle modifcations).
Service areas that support learning needs include:
early intervention services (for children younger than school
age
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preschool, child care, peer contact, social and educational
experiences
school:
the child should be educated in the least restrictive
environment
options include special school, special class and
mainstream class with support
vocational training (through mainstream tertiary education
centres).
Consumer and parent support groups
Consumer groups (eg specifc diagnosis interest groups, disability
advocacy and support groups
*
) are powerful forces in changing
how services are delivered. Tey provide useful information for
families and professionals, and are a major source of support
to families. Consumer groups also work with professionals and
promote education, communication and research.
For links to organisations that provide support to children with
specifc disability (and their families), see the relevant chapters
(eg Down syndrome, cerebral palsy).
Special equipment and aids
Some children need special equipment to overcome difculties
with postural control, mobility, self-care and communication.
Certain items (eg electric wheelchairs, electronic communication
aids) are expensive. Others (eg communication boards, some
seating) are simple and inexpensive. Decisions about the choice
of equipment should be based on a detailed assessment of the
childs needs and knowledge of the available equipment. Tis
requires specialist expertise that is available from professionals
who work as part of multidisciplinary teams to manage children
with disability.
See links to disability aids, products and equipment.
*
An example of a multicultural advocacy group is City and Inner West Disability Advocacy,
based in Sydney, NSW. Another support group is The Association for Children with a
Disability, based in Victoria.
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Early intervention services
Early intervention programs are important, as the best chance for
progress is when the child is still very young. Early intervention
services also support families as they come to understand their
childs disability and how severely the child will be afected.
Siblings and extended family members have important needs at
this time.
Te current approach to early intervention focuses on both the
family and the child. It is important that families in everyday
life continue to use the special techniques learned at the centre-
based service. Family functioning is enhanced by respecting the
familys autonomy, and providing information (about the child
and disability services) and practical assistance. Another way
families can be supported at home is by ofering ideas about
how they can help their child with self-care (eg eating, bathing,
learning through play). Addressing challenging behaviour is
important, as this can stress families.
Programs for the child tend to focus on specifc and practical
assistance (eg assisted communication, mobility) and teaching
important skills (eg how to communicate needs). Tey also
facilitate inclusion of children in their communities. Tis is
achieved by providing add-on services to regular child care and
preschools. Sometimes the childs learning needs are so high
that they need to attend special centres.
Communication
Communication is essential for people to express themselves,
make choices, ask questions, assert their rights, and share
their thoughts, feelings and ideas. One of the most important
areas of intervention is to enable children to maximise their
communication if it is impaired. All parents want their child to
learn to talk, but sometimes their child will not be able to use
speech to communicate. Tey might be able to use other ways
of communicating, but usually this is limited as well. Coming
to terms with this can be difcult. See information on complex
communication needs.
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School
Te choice of school for a child with developmental disability
is important, and may be difcult for their parentsofen they
receive conficting advice. Tey want their child to be valued by
the school, to have the best start in life and to be part of the local
community. Learning programs need to be individualised with
realistic learning goals.
Most children with disabilities attend their local mainstream
school. Tis can also beneft other children who come into
contact with the child with disability. Efcacy studies tend to
favour integrated educational settings.
HEALTH PROBLEMS
Children with disabilities should have the same access to health
promotion as other children (eg healthy diet, immunisation,
screening). Children with disability are at increased risk of
certain medical conditions. Tese include the following sensory
impairments:
hearing (due to associated sensorineural deafness or middle
ear disease)
vision (refractory errors, cataracts, acuity defects and cortical
defcits).
All sensory impairments require formal assessment.
Another common condition is epilepsy, which may be a result
of the childs underlying disability.
Other health concerns in children with developmental disability
include:
poor oral health (increased risk due to behaviour, stressors in
family [eg fnancial], limited dental services for children with
disability; see the chapter on oral health)
musculoskeletal problems (especially in cerebral palsy and
some syndromes)
polypharmacy/adverse efects of drugs (increased risk due to
multiple medical problems, limited access to health services
that provide early intervention for challenging behaviour).
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Conditions afecting the heart and lungs include:
congenital heart disease (this should be actively excluded
in all children with chromosomal abnormalities and/or
dysmorphic syndromes)
recurrent chest infections (aspiration, immobility, deformity
and reduced immunity may all be factors).
Gastrointestinal disorders that are more common in children
with developmental disability include:
oropharyngeal dysfunction (can cause feeding difculties,
refux, aspiration)
gastro-oesophageal dysfunction (can cause refux, aspiration,
oesophagitis, gastritis)
malnutrition (undernutrition and obesity)
constipation (due to poor diet, muscle weakness, immobility
and poor fuid intake).
Endocrine disorders may be a problem, particularly hypothy-
roidism.
Behaviour disturbances may be a direct or indirect result of
an underlying health condition, and this should always be
considered. Sometimes the childs behaviours form a pattern
(a behaviour phenotype) that is typical of certain syndromes.
However, ofen the behaviour tells something about the
interaction between the child and their environment. Careful
analysis of events that occur before and afer the challenging
behaviour is important. See detailed discussion of the causes of
challenging behaviour and its assessment.
A childs specifc syndrome may be associated with certain
health problems (eg loss of motor skills in Rett syndrome).
ROLE OF THE GENERAL PRACTITIONER
A GP can help a child with developmental disability in many
ways. Te GP can be a powerful advocate for the child. Tey
can help others to understand the childs pattern of abilities
and difculties, and its implications for learning and living.
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Misunderstandings about this can make life harder than
necessary for the child and those around them. Te needs of
children and families change over time, and medical science
advances rapidly. Regular review by the GP and key specialists
(ofen paediatricians and geneticists) is desirable.
Inclusion: joint position statement of AAIDD and The Arc. Washington, DC: American
Association on Intellectual and Developmental Disabilities; 2009.
Beresford B. Expert opinions. Bristol: Policy Press; 1995.
Brown L, Long E, Udvari-Solner A, Davis L, Van Deventer P, Ahlgren C, et al. The home
school: why students with severe intellectual disabilities must attend the schools of their
brothers, sisters, friends, and neighbours. J Assoc Pers Sev Handicaps 1989;14(1):1-7.
Capute AJ, Accardo PJ. A neurodevelopmental perspective on the continuum of
developmental disabilities. In: Capute AJ, Accardo PJ, editors. Developmental disabilities
in infancy and childhood. Baltimore: Paul H Brookes Publishing Co; 1996. p.1-24.
Farran DC. Effects of intervention with disadvantaged and disabled children: a decade
review. In: Meisels SJ, Shonkoff JP, editors. Handbook of early childhood intervention.
Cambridge: Cambridge University Press; 1990. p.501-39.
Megarbane A, Ravel A, Mircher C, Sturtz F, Grattau Y, Rethore MO, et al. The 50th
anniversary of the discovery of trisomy 21: the past, present, and future of research and
treatment of Down syndrome. Genet Med 2009;11(9):611-6.
Shonkoff JP, Meisels SJ. Early childhood intervention: the evolution of a concept. In:
Meisels SJ, Shonkoff JP, editors. Handbook of early childhood intervention. Cambridge:
Cambridge University Press; 1990. p.3-32.
Stainback S, Stainback W. Inclusive schooling. In: Stainback W, Stainback S, editors.
Support networks for inclusive schooling. Baltimore, MD: Paul H Brookes Publishing Co.;
1990. p.3-23.
Udvari-Solner A. A process for adapting curriculum in inclusive classrooms. In: Villa
RA, Thousand JS, editors. Creating an inclusive school. Alexandria (VA): Association for
Supervision and Curriculum Development; 1996. p.110-24.
United Nations Enable. Convention on the rights of persons with disability. Children with
disabilities [article 7]: UN Secretariat for the Convention on the Rights of Persons with
Disabilities; 2006.
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Managing an adolescent with developmental disability 79
Managing an adolescent
with developmental
disability
Adolescence is an exciting life stage. Great physical and
psychological changes occur at a time when the young person is
assuming a diferent role within their family and community. Te
relationship between an adolescent and their general practitioner
(GP) should evolve to refect these changes. Adolescents with
disability have the same concerns as those without disability. As
in many families, tensions may arise between the adolescents
need for independence and autonomy, and their parents desire
to protect and nurture them. Te adolescent with disability may
have additional concerns. Tese include:
self-consciousness about their body, particularly if they have
physical diferences
difculty fnding a boyfriend or girlfriend
fear that their disability may afect their sexual performance
limited opportunities for a private time and place to explore
their sexual feelings and relationships
frustration if they encounter difculties expressing their
independence
anger or sadness at the barriers they face to having the same
life experiences as other adolescents.
Children with developmental disability usually have a
paediatrician who initiates and coordinates their medical care.
Ideally the GP and paediatrician share a proactive holistic
approach to the childs health and the familys wellbeing.
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For people in their late adolescence or early adulthood, paediatric
services are no longer appropriate. Tere is no equivalent to the
paediatrician for adults with developmental disability. Terefore,
their health care becomes the responsibility of their GP. New
South Wales, Queensland, South Australia and Victoria have
specialist academic centres, established to improve the health of
adults with developmental disability. Tese centres difer in the
services they ofer, but all are a resource for GPs.
Te GPs role in the care of an adolescent with disability includes:
supporting the adolescent and their parents during
this transition from familiar (paediatric) to new (adult)
practitioners and services
ensuring health surveillance is ongoing, and coordinating
referral to specialist medical practitioners, allied health
professionals and community services as appropriate
developing a trusting relationship with the adolescent so it is
easier for them to raise personal concerns
encouraging the adolescent to become as active as possible in
managing their health
providing information about, and discussing, the physical
changes of puberty, sexuality, fertility, safer sexual practices,
contraception and other matters of importance to the
adolescent
advocating for the adolescent and their family and helping
with paperwork required for service transitions
helping the adolescent and their family to explore opportun-
ities and supports within the community (recreation, social
activities, education, employment).
Consultation focus
Parents usually accompany a child to medical consultations,
and ofen speak for them. As adolescents mature, the focus of
consultation should shif to them. Te consultation is between
the adolescent and their doctor, even if sometimes they need
help from their parents or others.
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Communication is enhanced by:
treating them with respect, including addressing them directly
(whether or not they have cognitive and/or communication
difculties)
seeing them alone (without parents) for at least part of the
consultation
clearly stating the rules of confdentiality
taking their concerns and fears seriously, and addressing
them honestly.
See advice on communicating with a person with developmental
disability.
HEALTH AND SOCIAL CONCERNS
Adolescents with developmental disability have the same
health and social concerns as their peers, but some are worth
highlighting (see Table 7 and subsequent discussion).
Table 7. Checklist of health and social concerns in
an adolescent with developmental disability
Health or social concern Possible interventions for adolescent
Health promotion and
disease prevention
Adolescents with disability
(especially intellectual
disability) may miss out on
(or not fully understand)
public health promotion
messages.
ensure the young person has access
to education, advice and support about a
healthy diet and weight; smoking, alcohol
and drug use; sexual activity, safer sex
practices and contraception
note: information needs to be in a
format they can understand
recommend regular exercise and tness
programs (eg physiotherapist, local
gymnasium)
give standard immunisations as in
The Australian Immunisation Handbook
provide information about, and screening
for, disease prevention and detection, as
for general population
refer as appropriate for adolescent
support and counselling (eg drug and
alcohol, human relations)
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(cont.)
Mental health
Adolescents with disability
(particularly intellectual
disability) are at greater risk
of mental ill health, for a
range of biopsychosocial
reasons.
consider strategies to build the adolescents
resilience (eg developing social connection,
autonomy, independence, resourcefulness
and achievement)
identify risk factors for, and detect early
signs of, mental ill health
refer as appropriate to psychologist or
psychiatrist
Complex communication
needs
encourage condence and success in
communication by:
speaking directly to the adolescent
learning about, and using, their
communication aids
optimise independence in communication
by encouraging the adolescent to speak for
themselves
if the adolescent doesnt have an effective
communication system, refer them to a
speech pathologist for assessment
Mobility
Independent mobility is
important for independence
and social participation.
Function in adolescents
with physical disability may
deteriorate during pubertal
growth.
refer to physiotherapist for assessment,
exercise program and appropriate mobility
aids (eg wheelchair)
refer to local gymnasium for tness and
strength training
ensure optimal bone strength through diet
(eg calcium, vitamin D) and weight-bearing
exercise
refer to rehabilitation physician or
orthopaedic surgeon to manage spasticity
(pain, spasm, function) or bone and
joint disorders (deformity, subluxation,
dislocation)
arrange podiatry as indicated
Vision and hearing
People with physical,
intellectual and social
impairments are more likely
to have sensory impairments
than the general population.
regularly screen vision and hearing
be aware that loss of skills (mobility,
personal care, independent activity) or
condence may reect deteriorating vision
and hearing
refer to audiologist or ophthalmologist if
concerned or uncertain about vision or
hearing loss
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(cont.)
Personal care
Personal care is important
to independence and social
engagement.
raise this directly with the adolescent, and
explore areas of difculty or concern
provide education and advice on hygiene,
continence and menstrual management as
needed
refer to occupational therapist for skill
development in personal care
seek advice from others who can help (eg
disability support services, human relations
counsellors, adolescent workers and family
members)
Endocrine function check endocrine function routinely
in conditions of increased risk (eg
hypothyroidism/Down syndrome)
refer to endocrinologist if indicated
Epilepsy
A high proportion of people
with disability have lifelong
epilepsy. Seizure patterns
may change in adolescence.
provide information about epilepsy to
all involved in seizure management and
support for the adolescent
regularly review seizure frequency,
antiepileptic drugs (type, dose, adverse
effects, serum concentrations [where
appropriate])
note: antiepileptic drug dosage needs to
be adjusted for growth/weight
refer to neurologist if indicated
Medication review review drugs regularly (indications, dosage,
effect, adverse effects)
note: if withdrawing a drug, do so slowly
and with close supervision
ensure adolescent and/or carers have
strategies so drugs are taken regularly and
on time
Social needs and services ask about the adolescents lifestyle
(housing, social life, education,
employment, activities)
consider referral to: generic community
services and disability services for
social and leisure activities; social skills
groups; support groups; accommodation,
education and employment services; case
management (see disability resources)
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Pubertal changes
Pubertal changes in adolescents with developmental disability
usually occur at the same time, and follow the same pattern,
as for all adolescents. Disorders of puberty may be associated
with particular developmental disabilities or other conditions
(see Table 8). If pubertal development does not fall within the
expected parameters, investigation and referral for delayed or
precocious puberty is indicated (see delayed puberty in girls and
boys).
Note that adolescents may experience delayed or early puberty if
they are markedly overweight or underweight.
Table 8. Pubertal disorders associated with
developmental disability or other conditions
Pubertal disorder Predisposing developmental
disability or other condition
precocious puberty hydrocephalus, intracranial tumours,
microcephaly, porencephaly, post infection
(meningitis, encephalitis, toxoplasmosis),
post-traumatic brain injury, tuberous
sclerosis, hypothyroidism
absent or delayed puberty* Prader-Willi syndrome, Klinefelter syndrome,
Turner syndrome, Noonan syndrome
small or ambiguous genitalia Prader-Willi syndrome, Bardet-Biedl
syndrome, Laurence-Moon syndrome,
Klinefelter syndrome, Down syndrome
* Cryptorchidism is more common in boys with delayed puberty, and should be treated.
Substance misuse
Drug use and abuse, including experimentation with alcohol,
tobacco and other drugs, may occur in adolescents with
developmental disability, the same as in other adolescents.
Adolescents with intellectual disability:
are particularly vulnerable to the infuence of the media and
their peers
have diminished ability to appreciate the consequences of
their actions.
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Parents and others supporting young people with disability
must be alert for signs of drug abuse and of manipulation or
exploitation by others.
Mental health
A range of biopsychosocial factors lead to people with develop-
mental disability being more vulnerable to disorders of mental
health (see Table 14).
Tis risk is greater in adolescence, and may relate to:
changes in the brain (seizures may emerge or seizure patterns
may change)
physical and hormonal changes
the increased complexity of interpersonal relationships
the experience of abuse
expectations (of the adolescent and/or others) of increasing
independence
diferences in the life opportunities available to people with
disability, compared with people without disability.
Abuse
Adolescents with intellectual disability, autism spectrum
disorder or physical disability (eg cerebral palsy) are at risk of
manipulation, exploitation and abuse by others. Communication
difculties may make it difcult or impossible to report their
experience. A change in behaviour may be the only way they can
express their distress.
Building resilience to cope with adversity
A strong sense of identity, social connectedness, robust self-
esteem and resourcefulness bufer a person against adversity.
Tese qualities can be promoted in an adolescent by encouraging
them to:
develop trusted relationships as a source of support, guidance
and assistance
focus on their strengths and abilities, and develop them
explore ways to experience independence, autonomy and
success.
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Managing disorders of mental health
Te same principles apply to managing disorders of mental
health in adolescents with and without disability. More time is
needed for assessment and management when the adolescent
has cognitive and/or communication difculties. Assessment
involves family and other important adults in the persons life,
including those from school or work. Tese key people are usually
important in ongoing support, monitoring and management.
For advice, see psychiatric disorders: management and
eTGcomplete.
Care of the family
Adolescence can be a challenging time for families, especially
when the adolescent has developmental disability. Te family
may need information and assistancetheir GP may provide
this directly, or refer the family to community-based youth or
disability services. Support could include:
information on the physical and psychological changes of
puberty, and how they may afect (and be afected by) the
disability
opportunities to discuss:
the ways the adolescent is expressing their sexuality
how to support the adolescent through this time of change
concerns about the adolescents vulnerability, and how to
balance independence with safety
information on support services (including fnancial
assistance and respite) available to the adolescent and their
family
advice and support in managing adolescent behaviours.
COGNITIVE CHANGES
In typically developing children, thinking processes are con-
crete at frst. During adolescence, more complex and abstract
cognitive abilities develop. Most adults can manipulate abstract
ideas, plan, initiate, solve problems and adapt to changing
circumstances.
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Adolescents with intellectual disability have delayed and/or
impaired cognitive skill development. Tey learn more slowly,
and have difculty with abstract concepts and transferring
learned skills into new settings. However, like everyone else,
their ability to learn and develop continues throughout their
life (unless they have a degenerative condition). Tey should be
encouraged and supported to continue to learn, and to make
best use of their skills and abilities.
PSYCHOSOCIAL CHANGES
Adolescence is challenging, and requires a person to:
adjust to changing physical and psychological states
handle the changing expectations of others
develop a sense of belonging to a peer group
acquire a sense of responsibility and reciprocity within
relationships
understand and manage sexual feelings and needs
achieve a separate identity, value system and life direction
from their parents.
An adolescent with disability may face additional challenges in
these tasks. Tese include:
the diference in appearance and/or function of their body
expectations of others (inappropriately low or high)
difculty initiating and maintaining friendships, because of
communication or social difculties and transport barriers
a restricted ability to learn about, and explore, sexuality
ongoing physical and/or social dependence on family or paid
carers, with limited opportunities for independence.
Developing trusting connections, and being able to identify and
use sources of support within their communities, are important.
Tey help the adolescent to build a sense of resourcefulness,
competence, autonomy and resilience.
Friendships
Identifying with a peer group is important to an adolescents
sense of wellbeing and self-esteem. It underpins establishing an
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identity separate from their family. Developing friendships and
having independent social engagements can be more difcult
for an adolescent with disability. Tey may need guidance
and support to locate activities where friendships are likely to
develop, and to initiate and nurture these relationships.
Sexual expression
An increased awareness and expression of sexuality during
adolescence is part of normal maturation. Adolescents with
intellectual disability have the same sexual needs as others in
the community. However, a range of factors may limit their
opportunities for normal sexual expression and forming healthy
sexual relationships. Tese include:
difculty understanding the complexities of social
relationships
restricted opportunities to learn, develop and practice social
skills with peers
increased supervision and a consequent lack of privacy.
Additional factors relating to their disability may make it more
difcult for some people to express their sexuality. If they
have an autism spectrum disorder, they may have difculty
understanding basic aspects of social interaction. If they have
a physical disability, they may face additional barriers (eg
physical dependence on others, continence concerns). Finally,
the adolescent with disability may encounter ignorance and
negative attitudes about their sexual feelings and desires.
Most teenagers acquire sexual knowledge from peers, elec-
tronic media and reading material. Access to these sources
of information may be restricted for an adolescent with an
intellectual disability. Reasons include:
limited literacy skills
fewer opportunities to learn from peers and share infor-
mation and experiences with them (due to communication
difculties and low level of knowledge of peers).
School-based sex education programs may not be targeted to
the persons level of knowledge and ability to understand and
process new information.
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All these factors may lead to an adolescent having difculty
understanding where, when, how and with whom they can
express themselves sexually. Tis may lead to them expressing
their sexual feelings in socially inappropriate ways.
Intimate and sexual relationships (whether real or desired)
become increasingly important to a young person as they
mature socially and physically. All young men and women
(including those with intellectual disability) need information
and guidance about their rights and responsibilities (and those
of others) within relationships. GPs have an important role in
providing:
information
a confdential place to ask questions, particularly in relation
to risk-taking, sexual activity, safer sexual practices and
contraception.
For links to sex education services available in each state,
see Sexual Health and Family Planning Australia. See also
discussion of contraception in general and specifc contraception
for women.
Referral to adolescent and health and human relations coun-
sellors may be helpful in some situations.
See further discussion of sexual expression in a person with
Independence
As an adolescent matures, their family may:
prioritise keeping them safe over encouraging them to be
independent
fnd it challenging to provide opportunities for them to
develop an increasingly independent lifestyle, while provid-
ing an environment that takes account of their vulnerability.
Te GP may have a role in helping the adolescent and/or
their family to explore the balance between potential harm
and independence. All need to be aware of the importance of
building capacity and resilience through opportunities for
decision-making and independent action.
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Identity
To develop their adult identity, the adolescent explores ways in
which they are separate from their family. Important components
of this are:
making choices
taking part in independent activities
testing limits and abilities
belonging to a peer group
developing a sense of direction and meaning in life.
An adolescents cognitive and physical impairments, and their
parents desire to protect them, may create tensions. Te GP can
help them explore these concerns.
CHALLENGING BEHAVIOUR
People who have difculty communicating ofen express
themselves through their behaviour. Behaviours that are
of concern to the person or to others may be regarded as
challenging or problem behaviours. Adolescents with autism
spectrum disorder, intellectual disability and/or complex
communication needs are particularly at risk of developing
difcult or challenging behaviours. Tis is because they have
greater difculty expressing themselves.
Factors that contribute to behaviours becoming behaviours of
concern may include the adolescents:
increase in size
desire for more independence and autonomy
increased sexual awareness and interest.
Causes
Causes of challenging behaviour of particular relevance to
adolescents are:
Psychosocial changes. Behavioural difculties may arise as
an expression of the frustration and desire for autonomy felt
by many adolescents.
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Physical and cognitive growth. Strategies used in behaviour
management for a child (eg physical guidance or restraint)
may not be appropriate or efective as the adolescent
develops.
Expectations of others or certain environments (eg high
levels of noise). Tese may cause confusion and anxiety.
Epilepsy. Tis may arise for the frst time in adolescence,
or seizure patterns may change. Auras, seizures and post-
seizure states can be associated with behavioural change.
Psychiatric illness. People with developmental disability
have an increased risk of developing psychiatric disorders.
Tese ofen present in adolescence or early adulthood.
Sexual and physical abuse or other exploitation.
See additional discussion of causes of challenging behaviour.
Management
Te biological, psychological and social context of any chal-
lenging behaviour should be carefully evaluated. Triggers
should be identifed where possible and addressed. Parents
and adolescents need to learn new techniques for handling
intense emotions and resulting situations. See management of
challenging behaviour (including its assessment).
When environmental factors are the cause of challenging
behaviour, modify the environment. Do not use psychotropic drugs.
Little evidence supports the use of psychotropic drugs to treat
challenging behaviour in adolescents with developmental
disability. See discussion of when psychotropic drugs might be
appropriate.
SCHOOL
Many adolescents with disability attend mainstream schools.
Others attend special schools, or a combination of both.
Whatever the setting, it is the schools responsibility to ensure
the educational program meets the students learning needs
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this may be a combination of academic curriculum and social
and functional life skills. Part of the educational plan for all
students, including those with disability, is to ensure they:
have a sense of belonging and being valued within their
community
acquire skills and develop competence.
Te school may require the doctor to provide medical infor-
mation or advice about the student. Tis is so school staf can:
understand the needs of the student
support the students medical and educational needs
appropriately
facilitate applications for funding, supports and services for
the student or their family.
TRANSITION FROM SCHOOL
For any student, the prospect of leaving school is challenging.
A student with disability and their parents may be particularly
apprehensive about what supports and opportunities are
available in their community. During the fnal years at school,
school staf, the young person and the family should hold regular
discussions about this. Options afer leaving school include:
open or supported employment
further education (eg university, Technical and Further Edu-
cation [TAFE], prevocational programs, registered training
organisations [RTOs])
individualised support for participation in day activities, that
may be:
educational, social, health or interest-based
based in a disability service or provided in the community.
Afer the student with disability leaves school, coordination
of their service provision shifs from education to community
services. If the young person needs disability services, they must
register with their state disability service provider. Registration
is a one-of requirement, and includes assessment of their
eligibility. Waiting lists may be long, so the person should
register well in advance.
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Many children with disability receive therapy services (eg
physiotherapy, speech therapy, occupational therapy) through
their school years. Before leaving school, their need for therapy
must be assessed and arrangements made for ongoing provision
(when required). Post school options for therapy services
include generic services (eg community health centres, private
providers, hospital-based services) and specifc services for
people with disability. In each state and territory, the relevant
disability services department provides information about
local services. Terapy services for adolescents in New South
Wales and the ACT can be accessed through the Cerebral Palsy
Alliance. Terapy services in Victoria can be accessed through
Scope or Yooralla.
Leaving school disrupts the adolescents existing social
networks, but brings opportunities for new friendships within
adult settings (eg work, study, sport, hobby interest groups).
Many adolescents fnd it difcult to initiate and arrange these
activities. Tey need support from family, friends and service
providers to do so. A case manager can be helpful identifying
and organising appropriate supports and social and recreational
opportunities.
Medical reports may be required to ensure the persons health
needs are met in their transition to the adult service sector.
LEAVING HOME
During adolescence and early adulthood, many young people
move out of their parents home. Some do so independently,
others need assistance. In each state and territory, the relevant
disability services department can help young adults with
intellectual and physical disability to identify and source
appropriate accommodation. Waiting lists for supported
accommodation tend to be long. Young people who are likely
to need the assistance of staf in their accommodation setting
should investigate their options well in advance.
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Blum RW. Improving transition for adolescents with special health care needs from
pediatric to adult-centered health care [introduction]. Pediatrics 2002;110(6 Pt 2):
1301-3.
Eastgate G. Sex and intellectual disability: dealing with sexual health issues. Aust Fam
Physician 2011;40(4):188-91.
Grotberg E. Countering depression with the ve building blocks of resilience. Reaching
Todays Youth 1999;4:66-72.
Reddihough D. Cerebral palsy in childhood. Aust Fam Physician 2011;40(4):192-6.
Scal P. Transition for youth with chronic conditions: Primary care physicians approaches.
Pediatrics 2002;110(6 Pt 2):1315-21.
Tonge B, Brereton A. Autism spectrum disorders. Aust Fam Physician 2011;40(9):672-7.
Tracy J. Australians with Down syndrome: health matters. Aust Fam Physician 2011;
40(4):202-8.
Tracy J. People with disabilities: a rewarding challenge in general practice. Aust Fam
Physician 2011;40(4):181.
Tracy J, Henderson D. Children and adolescents with developmental disabilities. The GPs
role. Aust Fam Physician 2004;33(8):591-7.
Woods R. Behavioural concerns: assessment and management of people with intellectual
disability. Aust Fam Physician 2011;40(4):198-200.
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Adult health care 95
Adult health care
Adults with developmental disability have the same range of
health care problems as the general population. Te diference
is that many of these problems are more prevalent and are
unrecognised or poorly managed. In addition these people have
disorders associated with the cause of their disability.
Te burden of illness is increased in people who cannot express
their symptoms adequately. For example, pain and infection are
ofen unrecognised in people with disability. Te only indication
that the person is experiencing discomfort may be a change
in their behaviour (eg tearfulness, withdrawal, aggression,
increased irritability). Support people and doctors may perceive
the behaviour as the primary problem, and not notice the
underlying medical condition.
Conditions that are more common in people with developmental
disability, or more likely to be missed, include:
vision and hearing impairment
adverse drug efects
respiratory conditions:
chest infections, especially resulting from aspiration
foreign bodies
gastrointestinal conditions:
dental disease
dysphagia
gastro-oesophageal refux
Helicobacterpylori infection
constipation
intestinal obstruction
cryptorchidism
inguinal hernia
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osteoporosis
epilepsy
psychiatric disorders (including anxiety, depression and
psychoses)
challenging behaviour
musculoskeletal and joint problems (including unrecognised
fractures or subluxated hips and chronic pain)
skin disease.
GENETIC REVIEW
Ofen the cause of an adults disability has been investigated in
their childhood. If the cause remains unknown, they should
be reviewed by a clinical geneticist. Tis review may assist in
their ongoing medical care. Until the person has a defnitive
diagnosis, they should be reviewed every 5 years. Any person
with developmental disability who has not been fully assessed
for a genetic disorder should have chromosome analysis by
comparative genomic hybridisation (CGH) array (genome-
wide microarray). Tis detects almost all known genetic causes
of developmental delay, apart from fragileX syndrome.
ADVERSE DRUG EFFECTS
See adverse drug efects in people with developmental disability.
ROUTINE HEALTH CARE
Adults with developmental disability need to have a regular
general practitioner (GP) to:
provide routine care
perform comprehensive health assessments, including health
promotion and disease prevention.
Recommended health checks are listed in Table 9. Medicare
items apply for health assessments and may be relevant for care
planning in this group of patients.
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GPs are ideally placed to:
monitor and investigate behavioural changes, which may be
clues to underlying health problems
foster a multidisciplinary approach to health care, for the
beneft of the patient.
A range of conditions commonly seen in adults with
developmental disability is discussed in this chapter. See also
advice specifc to womens and mens health.
*
Health concern Review frequency Practitioner
general health
blood pressure yearly GP
oral health (teeth,
gums and oral cavity)
every 6 months dentist
hearing
assessment Down syndromeevery 2 to
3 years
nonDown syndromeevery
3 to 5 years
audiologist
correct use of
hearing aids
regularly GP or
audiologist
otoscopy opportunistically GP
vision
assessment Down syndromeevery 2 to
3 years
nonDown syndromeevery
3 to 5 years
optometrist/
ophthalmologist
correct use of
glasses
regularly GP or
optometrist/
ophthalmologist
medication review at least every 6 to 12 months medication
review
pharmacist
continued next page
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(cont.)
thyroid function Down syndromeyearly
nonDown syndromeyearly or
less frequently (depending on
cause of disability)
GP
dyslipidaemia regularly
*
GP
diabetes fasting plasma glucose
Down syndromeyearly
nonDown syndrome at least
every 3 years (more frequently
if taking antipsychotic drugs)
GP
skin check yearly GP
lifestyle
alcohol yearly GP
smoking yearly GP
nutrition yearly GP
weight yearly GP
physical activity yearly GP
womens health
breast cancer
breast examination regular review (frequency not
clear)
GP
mammography every 2 years from ages of 50 to
69 years
radiographer
cervical cancer
(Papanicolaou [Pap]
smear)
every 2 years from ages of 18 to
69 years, if patient has ever been
sexually active
GP
mens health
testicular examination on rst presentation and yearly
after that
GP
prostate cancer screen according to clinical assessment
(routine screening is not
recommended at the time of
writing)
GP
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(cont.)
immunisation according to the schedule in
The Australian Immunisation
Handbook
GP
other
epilepsy continually aware of risk
if taking antiepileptic
drugs, consider vitamin D
supplementation
GP
urinary incontinence continually GP
mobility continually GP/allied health
professionals
problem behaviour
(physical/
psychological/social)
opportunistically, if indicated GP/psychologist
depression (especially
in high risk patients [eg
previous diagnosis of
psychiatric disorder])
maintain high level of clinical
awareness of people at high risk
of depression
screen opportunistically
GP
dementia (Down
syndrome patients
from age of 35 years)
heightened clinical awareness
enquire opportunistically about
memory and functioning
GP/
psychologist/
psychiatrist
sexual health (advice
on contraception,
safe sex and sexually
transmitted infections)
opportunistically, if indicated GP
bone health Down syndromemeasure
bone mineral density:
in early adulthood
at menopause in women
at approximately 40 years of
age in hypogonadal men
GP
nonDown syndromeenquire
opportunistically about risk
factors
GP
*
Much of this advice is the same as for the general population. Royal Australian
College of General Practitioners. Guidelines for preventive activities in general
practice [The red book]. 7th ed. South Melbourne, Vic.: Royal Australian College of
General Practitioners; 2009.
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SPECIAL SENSES
Visual and auditory disorders are more common in people with
developmental disability than in the general population, and
ofen are not recognised or adequately managed.
People with developmental disability may not be aware of their
sensory impairments, or may not be able to report them. Also,
they may not realise these losses are afecting their ability to
function. Support people ofen are not aware that the person has
a sensory impairment. Tey may mistakenly attribute a lack of
response to behaviour (eg stubbornness).
No matter how severe their developmental disability, all people
with vision and hearing impairments benet from improving their
sight and hearing.
Screening for vision impairment (eg using Snellen or picture
charts) and hearing loss (eg the whisper voice test at 0.6metres)
can be performed accurately on:
all people with mild developmental disability
many people with a moderate disability.
Ofen these tests are not feasible in people with more severe
disability, who should be reviewed regularly by an audiologist
and ophthalmologist. People with inconclusive tests should also
have specialist review.
Correct use of spectacles and hearing aids should be checked.
Family members and other support people can change the
environment to enhance perception and comprehension. Tis
is especially important if it is not practical for the person with
disability to use spectacles or hearing aids.
Hearing can be enhanced by:
turning of radios and televisions when speaking to the person
speaking clearly.
Further advice is available from Australian Hearing, an
audiologist or a speech pathologist.
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Ways to improve vision include:
removing glare
increasing light
providing contrast.
Further advice is available from a low vision clinic.
For patients with developmental disability, it is important for
their GP to:
perform an otoscopy every year (especially to look for wax
build-up in people with hearing aids) or more frequently if
indicated
check hearing aids or glasses are being used correctly
screen hearing and sight every 3to 5years (every 2to 3years
for people with Down syndrome).
CARDIOVASCULAR
See cardiovascular disease in people with developmental dis-
ability.
Down syndrome is associated with a signifcant incidence of
congenital heart disease. Torough cardiac examination should
be part of routine health care for these patients. Echocardio-
graphy and cardiologist opinion should be sought if necessary.
RESPIRATORY
Respiratory disorders are one of the most common causes of
death in people with developmental disability. Tey are the main
cause of death in people with severe to profound intellectual
disability.
People with developmental disability are at risk of aspiration
(caused by chronic dysphagia). Tis may subsequently present
as recurrent respiratory tract infections, or be misdiagnosed
as asthma. A history of cough while eating or drinking should
raise the suspicion of aspiration. See the chapter on dysphagia
for more information.
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Aspiration pneumonia and lung abscesses should be treated as
in eTGcomplete. Chronic severe respiratory disease (including
chronic obstructive pulmonary disease [COPD]) is an indication
for referral to a respiratory physician.
Inhaled, intranasal or swallowed foreign bodies can result in an
atypical presentation.
Asthma is treated as for the general population (see eTG
complete). However, a person with developmental disability
may not have sufcient self-management to follow an asthma
management plan.
Sleep apnoea is common in obese patients. Continuous positive
airways pressure (CPAP) is the most efective therapy (see
eTGcomplete).
GPs are in an ideal position to institute strategies to reduce
morbidity from respiratory disease in their patients with
developmental disability. Strategies include:
performing an annual health review
ensuring immunisations are up to date and complete
promoting smoking cessation
discussing weight management concerns
considering allergy testing for patients with asthma and
sinusitis.
GASTROINTESTINAL
Gastrointestinal conditions that are common in people with
developmental disability include dental disorders, gastro-
oesophageal refux disease, H. pylori infection, constipation,
dysphagia and nutrition disorders (including weight problems).
Oral and dental health
GPs should encourage their patients to have 6-monthly dental
reviews as part of the multidisciplinary approach to maintaining
good health. See specifc concerns about oral and dental health
in people with developmental disability.
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Gastro-oesophageal reux disease
Occasional symptoms of gastro-oesophageal refux (ie heart-
burn or regurgitation) are common in the general population
(15% to 20% of adults experience this at least once a week).
If these symptoms signifcantly impair quality of life, due to
their frequency (twice a week or more) or severity, a person is
considered to have gastro-oesophageal refux disease (GORD).
GORD is common in people with developmental disability. It
is most prevalent in people with scoliosis, cerebral palsy, Down
syndrome, an IQ lower than 35, or who take antiepileptics or
benzodiazepines. It is ofen severe. As patients may be unable
to communicate their symptoms, clinicians need a high index
of suspicion and should consider this diagnosis in the following
situations:
challenging behaviour (eg agitation, injury to self or others)
recurrent vomiting and aspiration
coughing or choking with meals
anaemia
weight loss
dental erosions
sleep disturbance.
For patients without alarm symptoms, a trial of therapy with
a proton pump inhibitor for a few weeks is warranted. If
efective, this treatment should be continued. In the presence
of alarm symptoms (eg pain on swallowing, dysphagia, weight
loss, anaemia, haematemesis and/or melaena, vomiting),
endoscopy should be performed. Complications of GORD
include oesophageal ulceration, oesophageal stricture, Barretts
oesophagus and oesophageal cancer. Treatment should be
tailored to the severity of the disease. In patients who cannot
communicate their symptoms well, behaviour charts may be
helpful when trying to assess the:
severity of their symptoms
efectiveness of treatment.
For further information on GORD, including recommended
drug doses and duration of therapy, see eTGcomplete.
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Helicobacter pylori infection
H. pylori infection is present in about 30% of adult Australians,
but is not uniformly distributed in the population. Its prevalence
is higher in people with developmental disability who have ever
lived in residential care (including institutions, group homes and
respite care centres) or who attend day centres. Tese people,
and people who are unable to complain of dyspepsia, should
be screened for infection. While most H. pylori infections are
asymptomatic, infection confers a lifetime risk of peptic ulcer
disease of 15% to 20%, and of gastric cancer of up to 2%.
Infection is diagnosed using urea breath tests, faecal antigen
tests or serology. Urea breath tests are more specifc, but are not
always as feasible as faecal antigen tests.
People with developmental disability who are infected with
H.pylori need eradication therapy, as for the general population
(see eTGcomplete).
Constipation
Constipation merits vigorous investigation and treatment. It is
so common that it is ofen overlooked by a GPit may also be
forgotten by the person with developmental disability (or their
support person) during the consultation. However, constipation
is distressing, and its discomfort may be expressed as chal-
lenging behaviour. Severe chronic constipation may result in
recurrent hospitalisation, intestinal obstruction or volvulus
(twisted intestine) and death.
Risk factors for constipation in people with developmental
disability include:
poor food and/or fuid intake, particularly in people who
have difculty swallowing (ie dysphagia)
poor mobility (eg people with signifcant physical disability)
severe intellectual disability
low fbre diet
some drugs (eg antipsychotics).
For advice on managing constipation, see eTGcomplete.
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Dysphagia
Te swallowing skills of some people with developmental dis-
ability deteriorate afer the age of 30years, as part of the ageing
process. It is important to review their swallowing ability and
oral intake regularly. See information on dysphagia.
Nutrition
See information on nutrition, including the assessment and
management of being underweight or obese and nutritional
defciencies (eg iron, vitaminD).
GENITOURINARY
Disorders of the genitourinary system may be unrecognised and
underdiagnosed in people with developmental disability. Health
professionals need to maintain a high index of suspicion.
Urinary tract infection
Some people with developmental disability may be at greater
risk of urinary tract infections. Contributing factors include
neurogenic bladder, anatomical variation of the renal tract, an
indwelling catheter and faecal incontinence. See eTG complete
for information on diagnosis and treatment.
Urinary incontinence
Primary urinary incontinence in a person with developmental
disability is usually a consequence of their disability. Secondary
incontinence and worsening of primary incontinence are usually
the result of factors other than the disability.
All cases of urinary incontinence should be carefully evaluated,
including:
whether it is primary or secondary
associated symptoms and precipitating factors
toilet access difculties
communication difculties
psychological factors (eg previous abuse, distress about
incontinence).
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Investigation and treatment of urinary incontinence is the same
as for the general population. Referral for assessment and advice
may be appropriatethis could be to a continence physician
(usually a geriatrician, whatever the persons age), continence
nurse advisor, urologist or urogynaecologist.
Te Continence Foundation of Australia has information on
local resources.
Lower urinary tract symptoms in men
Lower urinary tract symptoms in men are treated as for the
general population. Treatment may be medical or surgical.
Cryptorchidism and inguinal hernia
Cryptorchidism is common in males with developmental
disability (especially in cerebral palsy), and ofen goes unrec-
ognised.
Inguinal herniae may be an undiagnosed cause of groin and
abdominal pain in males with developmental disability. Health
professionals must keep this in mind if the person has a change
in behaviour or nonspecifc pain behaviour. Strangulated her-
niae are a surgical emergency.
CENTRAL NERVOUS SYSTEM
Epilepsy is more frequent in people with intellectual disability
(18% to 35%) than in the general population (approximately
1%).
MENTAL HEALTH
Psychiatric disorders (eg anxiety, mood disorders, schizophrenia
and related psychoses) are two to three times more common in
people with intellectual disability than in the general population.
See assessment and management.
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ENDOCRINE
Some endocrine disorders are particularly common in people
with developmental disability. Tese include osteoporosis,
osteomalacia, thyroid disorders and diabetes.
Osteoporosis
Osteoporosis and its management are discussed in detail in
eTG complete. Tere is evidence of an increased prevalence
of low bone density, osteopenia and osteoporosis in people
with developmental disability. Te prevalence varies with the
population studied and method used.
Risk factors
Several factors that increase the risk of osteoporosis and fractures
are more common in people with developmental disability. Tey
include:
lifestyle and nutrition:
reduced physical activity or immobilisation
inadequate calcium intake
vitaminD defciency
use of antiepileptic and antipsychotic drugs
sex hormone defciency (women and men)
endocrine disorders (eg hyperthyroidism)
Down syndrome
amenorrhoea, as a result of prolonged use of progestins or
premature surgical menopause.
If risk factors for osteoporosis are identifed, measurement of
bone mineral density should be considered. Strategies to prevent
osteoporosis include taking vitaminD and calcium supplements,
ensuring adequate weightbearing exercise and maintaining a
normal body mass index. People with developmental disability
who do not have regular skin exposure to sunlight should have
their serum 25-hydroxy vitamin D concentration monitored
annually. For further discussion of assessing risk for osteoporosis
and fractures, and preventive strategies, see eTGcomplete.
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Treatment
Treatment of osteoporosis in a person with developmental
disability is as for the general population (see eTG complete).
However, people with developmental disability have increased
potential for serious adverse efects from oral bisphosphonates
(eg gastrointestinal ulceration, osteonecrosis of the jaws). Tis
is due to their increased incidence of dysphagia and gastro-
oesophageal refux disease, and greater need for invasive dental
treatment. It is important to exclude or treat any underlying
conditions (eg coeliac disease in Down syndrome, sex hormone
defciency).
Falls prevention
People with developmental disability are less likely to complain
of the symptoms of osteoporosis, and are more likely than others
to fall. Factors that increase their risk of falls include:
impaired mobility, coordination, balance and strength
epilepsy
drugs with hypotensive and sedating efects (especially
psychotropic drugs)
vision impairment.
Te signs and symptoms of fractures may be missed. Terefore,
falls prevention is especially important in these peoplethey
also have greater morbidity associated with a fracture. For advice
on preventing falls and fractures in people with osteoporosis,
and restoring mobility, see eTGcomplete.
Osteomalacia
Osteomalacia (termed rickets in children) is a common cause of
bone fragility in people with developmental disability. VitaminD
defciency is the cause of most cases of osteomalacia and rickets
in people with normal or near-normal kidney function. People
who spend a large proportion of their lives indoors, or who are
being treated for epilepsy, need regular screening for vitaminD
defciency. For further discussion of osteomalacia and rickets,
and advice on vitaminD supplements, see eTGcomplete.
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Thyroid disorders
Tyroid disorders can occur at any age and are common
in the general population. Tey are especially common in
people with Down syndrome and some other genetic diseases.
Hypothyroidism is the usual manifestation, and people with
Down syndrome should be screened every year.
Hyperthyroidism may present as behavioural disturbance and
weight loss. Specialist referral should be considered.
For detailed discussion of thyroid disorders and their treatment,
see eTGcomplete.
Diabetes
Te prevalence of diabetes in people with developmental
disability is unknown. However, these people have higher
levels of obesity and are less active than the general population.
Terefore diabetes is probably more common, and may be
underdiagnosed. Diabetes is common in specifc conditions
(eg in Prader-Willi syndrome, where its control is difcult).
Some antipsychotic drugs (eg olanzapine) predispose people
to hyperglycaemia. Suggested testing frequency for people with
and without Down syndrome is in Table 9.
People with insulin-dependent diabetes need specialist referral.
Diabetes management is ofen complicated by difculty:
maintaining adequate levels of physical activity
adhering to dietary restrictions
implementing glucose monitoring (especially in people who
live independently or are averse to pinpricks)
understanding the implications of its long-term compli-
cations.
For detailed discussion of diabetes and its treatment, see
eTG complete. Specifc information for people with develop-
mental disability who have diabetes (and their support people)
is available from the Queensland Centre for Intellectual and
Developmental Disability.
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Menstruation
Menstrual management and disorders are discussed in the
chapter on womens health and eTGcomplete.
MUSCULOSKELETAL
Musculoskeletal disorders found in people with developmental
disability include scoliosis, contractures, congenital dislocated
hips and osteoarthritis.
See the musculoskeletal efects of cerebral palsy. For treatment
of osteoarthritis, see eTGcomplete.
SKIN
Skin problems are common in people with developmental
disability, and are ofen overlooked. For discussion of specifc
skin disorders, see eTGcomplete.
Australian Technical Advisory Group on Immunisation. The Australian immunisation
handbook. 9th ed. Canberra: NHMRC; 2008.
Bohmer CJ, Klinkenberg-Knol EC, Kuipers EJ, Niezen-de Boer MC, Schreuder H,
Schuckink-Kool F, et al. The prevalence of Helicobacter pylori infection among inhabitants
and healthy employees of institutes for the intellectually disabled. Am J Gastroenterol
1997;92(6):1000-4.
Bohmer CJM, Klinkenberg-Knol EC, Niezen-De Boer MC. Prevalence, diagnosis and
treatment of gastro-oesophageal reux disease in institutionalised persons with an
intellectual disability. J Intellect Dev Disabil 2002;27(2):92-105.
Durvasula S, Beange H, Baker W. Mortality of people with intellectual disability in northern
Sydney. J Intellect Dev Disabil 2002;27(4):255-64.
Eastgate G, Lennox NG. Primary health care for adults with intellectual disability. Aust Fam
Physician 2003;32(5):330-3.
Royal Australian College of General Practitioners. Guidelines for preventive activities in
general practice [The red book]. 7th ed. South Melbourne, Vic.: Royal Australian College
of General Practitioners; 2009.
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Srikanth R, Cassidy G, Joiner C, Teeluckdharry S. Osteoporosis in people with intellectual
disabilities: a review and a brief study of risk factors for osteoporosis in a community
sample of people with intellectual disabilities. J Intellect Disabil Res 2011;55(1):53-62.
Wallace RA, Webb PM, Schluter PJ. Environmental, medical, behavioural and disability
factors associated with Helicobacter pylori infection in adults with intellectual disability.
J Intellect Disabil Res 2002;46(Pt 1):51-60.
Warburg M. Visual impairment among people with developmental delay. J Intellect Disabil
Res 1994;38 (Pt 4):423-32.
Whiteld M, Langan J, Russell O. Assessing general practitioners care of adult patients
with learning disability: Case-control study. Qual Health Care 1996;5(1):31-5.
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Aged care 112
Aged care
Increasing numbers of people with intellectual disability,
especially women, are living into old age. Te survivor population
has mild intellectual disability, less comorbid conditions and
high adaptive functioning. Its life expectancy approaches
(and in some cases exceeds) the life expectancy of the general
population. Great gains have been made in the life expectancy
of people with Down syndrome. In developed countries in the
1940s it was 12years of age, but now it is 60years.
Te absolute numbers of older people with intellectual disability
are small. However, the size of this group is expected to double
in the next two decadesthis is due to increasing life expectancy
and ageing of the generation born between 1946 and 1964 (baby
boomers).
CLINICAL ASSESSMENT
Older people with developmental disability have the same health
problems and lifestyle concerns (eg exercise, diet, active and
passive smoking, drug and alcohol use) as any older person
they require similar services from their doctors. However, their
clinical management is ofen complicated. Family members
are ofen unaware of changes that occur during the ageing
process. Tey may attribute problems to the persons disability
or behaviour, rather than to a change in their health as a result
of ageing. Support workers may have a limited understanding
of ageingthey are ofen young and untrained. Tey may also
have limited knowledge of the person for whom they are caring.
Older people with developmental disability may have frequent
changes of support people and place of residence.
Encourage people with developmental disability to keep a
personal health record.
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Aged care 113
Health records are ofen inadequate. It may take some time to
piece together an accurate picture of the persons health status.
If the person does not already have a personal health record,
encourage them (or their support people) to start one.
A comprehensive approach to clinical assessment of people with
developmental disability requires more thought and time as they
age. Physical and psychological problems afect functioning.
Age-related disability compounds the underlying problems of
people with intellectual disabilityfunctional and social aspects
of their assessment become more important. Information needs
to be obtained from several sources, including family, friends
and formal support people. Hearing and vision impairments are
more common with older age. Speaking face-to-face and having
good lighting improves verbal communication.
Older people with developmental disability should attend their GP
regularly.
Physical examination should include particular attention to
the cardiovascular, neurological and musculoskeletal systems.
Functional status (particularly self-care skills) should be assess-
ed routinely. Social and fnancial needs should be established.
Frailty
Frailty is an important concept that applies to older people with
developmental disability. It has been defned as a condition or
syndrome which results from a multi-system reduction in reserve
capacity to the extent that a number of physiological systems are
close to, or past, the threshold of symptomatic clinical failure.
*

Te frail person is at increased risk of disability and death from
minor external stresses. Common medical problems may harm
their health and function more than expected. Older people
with developmental disability have the problems of age added
to the problems of their disabilitythey need comprehensive
assessment to manage frailty and maintain optimal function.
*
Campbell AJ, Buchner DM. Unstable disability and the uctuation of frailty. Age Ageing
1997;26(4):315-8
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HEALTH SCREENING AND PREVENTIVE HEALTH
CARE
Health screening and preventive health care is ofen neglected
in people with developmental disability. It is important to
continue paying attention to their health and lifestyle as they
get older. Screening women for breast and cervical cancer is
recommended to the age of 69years (Te Red Book). Infuenza
and pneumococcal vaccinations are indicated for all people aged
65years and over (Te Australian Immunisation Handbook).
Exercise is important for all older people, to maintain their
cardiovascular health, functional status and general wellbeing.
Regular, safe, physical exercise should be part of their daily
routine. Exercise that mimics the activities of their daily living
(eg repetitive sit-to-stand, walking) is more acceptable and
helpful. Simple advice delivered in primary care is efective in
increasing activity for older people. Support people and others
involved in the care of older people with intellectual disability
should facilitate activity programs. Tese should be part of the
persons daily routine and documented in their care plan.
For additional information, see the chapter on preventive health
care and health promotion.
AGEING AND DEVELOPMENTAL DISABILITY
DISORDERS AND SYNDROMES
Older people with developmental disability have health
problems related to the cause of their disability and conditions
associated with it. In some developmental disability syndromes
and disorders, health problems that are usually related to
ageing occur at a younger age (eg physical wear and tear on the
musculoskeletal system in cerebral palsy, precocious ageing and
Alzheimer disease in Down syndrome).
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MEDICATION REVIEWS
All older people are at increased risk of adverse efects from their
medicationsthese cause up to 20% of their hospitalisations.
Older people with developmental disability should have regular
medication reviews.
HEALTH CONCERNS
Older people with developmental disability have the same health
problems as the general population, but some conditions occur
more frequently. Tese people are also at greater risk of their
health problems going undetected. Common conditions are
shown in Box2.
developmental disability*
Special senses
vision and hearing impairments
Cardiovascular
cerebrovascular disorders
dyslipidaemia
elevated blood pressure
Respiratory
cardiorespiratory disorders
Gastrointestinal
chronic constipation
dysphagia
gastro-oesophageal reux disease
gingivitis and unrecognised dental pathology
Genitourinary
urinary incontinence
urinary tract infections
continued next page
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*
(cont.)
Central nervous system
Parkinsons disease
Mental health
chronic psychiatric disorders
delirium
dementia
depression
Endocrine
diabetes
hypothyroidism
obesity
osteoporosis
Musculoskeletal
falls and fractures
impaired mobility
osteoarthritis
Skin
skin and temperature homeostasis
* Cancer is common, and can affect any body system.
Many of these conditions are discussed in the chapter on adult
health care. Te text that follows is specifc for older people with
Vision and hearing impairment
Decline in vision and hearing is common in older people with
developmental disability. Such changes are ofen not reported
by the person. Teir support staf may not be aware of these
impairments or recognise their efect on communication and
behaviour. Sensory losses can result in social isolation, confusion
and apparent loss of skill. Visual impairment may increase the
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risk of falls. See strategies to help the person with vision or
hearing loss. Referral to a speech pathologist may be helpful if:
communication is impaired by sensory loss
the person is having difculty seeing, or using, their
communication aid.
Cardiovascular disease
Cardiovascular and cerebrovascular diseases are thought to be
as common in people with developmental disability (excluding
people with Down syndrome) as in the general population.
Most studies show these people have a higher incidence
of cardiovascular risk factors (eg obesity, poor diet, lack of
exercise). People with developmental disability may not be
exposed to public preventive health campaigns. Also, they are
unlikely to present themselves for review and management of
their vascular risk factors. Terefore, it is important for their
general practitioner to be proactive in this area. Tey should
educate the person with disability, their families and other
support people about healthy lifestyles, and encourage diet
and exercise programs. Te long-term hypotensive efects of
some psychotropic drugs (eg chlorpromazine) also need to be
considered.
People with Down syndrome have lower rates of atherosclerosis
and lower mean diastolic and systolic blood pressure than the
general population. However, they are more likely to be obese.
Also, they may have undiagnosed cardiac anomalies (including
valvular and conduction defects)these may cause heart failure
and other cardiac complications later in life.
It is important to measure blood pressure and blood lipid
concentrations regularly in older people with developmental
disability. For information on risk assessment and treatment for
cardiovascular disease, see eTGcomplete.
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Constipation
Chronic constipation is common in older people with
developmental disability, and is a particular problem for people
who cant walk. Severe constipation can cause physical and
behavioural problems. For advice on managing constipation
(including in older people), see eTG complete. See risk factors
for constipation in people with developmental disability.
Dysphagia
Te swallowing skills of some people with developmental
disability deteriorate afer the age of 30 years, as part of the
ageing process. It is important to review their swallowing ability
and oral intake regularly.
See dysphagia.
Gastro-oesophageal reux disease
See gastro-oesophageal refux disease.
Urinary incontinence
Urinary incontinence is common in older people with
developmental disability, but is not part of normal ageing. Ofen
it is mistaken for a behavioural problem or attention seeking.
However, urinary incontinence is usually caused by a medical
problem that can be treated (eg a urinary tract infection or
other urological disorder). Other factors that may contribute to
urinary incontinence in the older person include:
dementia, as the person may have difculty locating or
recognising the toilet
co-ordination difculties (dyspraxia), as the person may fnd
it awkward to undo zips or buttons.
Management is complicated by communication difculties
and mobility and cognitive problems. Efective management
of incontinence is important, to avoid prematurely placing the
person in a nursing home.
See also urinary incontinence.
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Urinary tract infections
See urinary tract infections.
Parkinsons disease
For advice on managing Parkinsons disease, see eTGcomplete. If
a person with developmental disability begins pharmacological
therapy, it is important to watch for adverse efectssymptoms
may be expressed in unexpected ways.
Mental health
Te main psychiatric conditions to be considered in older people
with developmental disability are chronic psychiatric disorders,
delirium, dementia and depression.
Chronic psychiatric disorders
Older people with developmental disability may have chronic
psychiatric disorders that are undiagnosed or have been
misdiagnosed. Teir psychotropic drugs may not have been
reviewed for many years, and the original indications may have
been forgotten. Regular medication reviews are important. See
assessment and management of psychiatric disorders.
Delirium
Delirium has many causes. Tese include acute illness
(commonly respiratory and urinary tract infections), metabolic
disturbances, drug toxicity and withdrawal, and seizures.
Delirium is discussed in detail in eTGcomplete.
Any change in the functional status, self-care ability or
behaviour of a person with developmental disability should be
taken seriously. As with all older people, symptoms of serious
disease are masked by delirium. Easily treatable disorders can be
missed. Support people may mistake delirium for a behavioural
problem. Accurate diagnosis of the cause of the delirium is
essentialif this cannot be done in the community, referral for
hospitalisation is recommended.
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Dementia
Dementia (including Alzheimer disease) is discussed in detail in
eTGcomplete.
By the age of 40 years, people with Down syndrome have the
typical neuropathological changes of Alzheimer disease. Teir
average age for a clinical diagnosis of dementia is 50to 55years.
Te incidence of dementia in people with other types of intel-
lectual disability is also higher than in the general population.
Diagnosis of dementia in people with intellectual disability may
be difcult. Standard diagnostic tools (eg Mini-Mental State
Examination [MMSE]) are not validated for use in this population.
However, in people with mild levels of intellectual disability, the
MMSE may provide a benchmark for comparison over time.
It is important to document a functional baseline for people with
developmental disability, especially people with Down syndrome
in their thirties or early forties. Tis should be prepared by people
involved in their long-term care. Te baseline could include:
standardised tests (eg Vineland Adaptive Behaviour Scale)
detailed documentation of the persons ability to complete
activities of daily living:
samples of handwriting
artwork
drawings (eg draw-a-person test)
photographs of the person participating in activities
audiotapes or videotapes.
Having this baseline means the nature and degree of any future
decline can be assessed more reliably. Also, when making a
diagnosis of dementia, it is important to show clear deterioration
(not due to another cause) over at least 6months. Retrospective
informant history is important, but may not be reliable or available.
If dementia is suspected, the diagnostic procedure is the same as
for the general population. Functional decline may be caused by
many common conditions (for examples in Down syndrome, see
Table 10). Tis means careful history taking, thorough medical
assessment and sensory screening are essential.
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A formal diagnosis of dementia should only be made afer
excluding these conditions and treating any that are detected.
Table 10. Differential diagnosis of functional decline
in Down syndrome
Potential cause Specic examples
psychiatric or
psychological disorder
anxiety
delirium
dementia
depression (including adjustment disorder)
grief
psychosis
sensory impairment hearing
vision
medical condition anaemia
arthritis
cardiac failure
hypothyroidism
infection
sleep apnoea
other
drug adverse effect confusion, dizziness, nausea caused by:
anticholinergic drugs
psychotropic drugs
polypharmacy
Alzheimer disease in people with Down syndrome has the
same clinical presentation as in the general population (see
eTGcomplete). Te person may present with:
impaired short-term memory and other cognitive functions
decline in activities of daily living
behavioural and psychological symptoms of dementia
(including changes in behaviour, personality and mood).
Indicators of memory impairment include:
repeated questioning (eg about who is on the next shif)
forgetting names
rummaging around looking for things.
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In nonverbal people, assessing short-term memory impairment
may be difcult. One way is by hiding three objects in the room
in front of them, then seeing if they can recall where they are.
Gradual decline in language (including losses in vocabulary,
sentence complexity and spontaneity of communication) is a
common presenting feature of Alzheimer disease. Additional
clues include:
declining daily living skills
getting lost in familiar places.
A distinction between trying to complete a task (and maybe
being unable to) versus lack of motivation helps distinguish
Alzheimer disease from other causes of functional decline (eg
social deprivation, depression, chronic psychosis). A person
who once neatly folded clothes, but now rolls them up, may be
showing signs of dyspraxia. Co-ordination difculties may be
revealed by observing the person while they:
complete dressing tasks (eg take of or put on a jacket, undo
or do up buttons, tie shoelaces)
manipulate a knife and fork.
Impairment in visual and spatial skills may be demonstrated by
a decline in the complexity and skill of the persons artwork.
Cholinesterase inhibitors ofer modest benefts to people
with mild to moderate dementia due to Alzheimer disease
(see eTG complete for dosing recommendations). People with
Down syndrome may have heart problems, and cholinesterase
inhibitors can have adverse cardiac efects. If a person has Down
syndrome and Alzheimer disease, they may not be able to report
any adverse efects of these drugs.
A person with Down syndrome and Alzheimer disease should
remain in their current accommodation and occupational
setting (with appropriate modifcations) for as long as possible.
Teir general practitioner can help with this.
Alzheimers Australia provide information and services for
people with dementia. Te Centre for Developmental Disability
Health has a booklet Down syndrome and Alzheimers disease.
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Depression, bereavement and grief
Depressive disorders are more common in people with
developmental disability when they are older. Tis is particularly
so in people with Down syndrome, whose depression may be
related to the onset of Alzheimer disease. Depression may
cause a loss of motivation and a decline in communication and
function. Distinguishing between depression and dementia may
be difcult. Te recommended treatment for depression is an
antidepressant, followed by review of the persons cognitive and
daily function. See advice on assessing and managing depression.
Old age is a time of loss and bereavement for people with
developmental disability, just as for people without disability.
Grief is ofen overlooked in people with intellectual disability.
It may cause signifcant behavioural disturbance and psycho-
pathology for a year or more. Ways to help a person with
intellectual disability grieve include:
providing support
fostering understanding of their environment and those
around them
expressing feelings
participating in rites of passage
commemorating (eg looking at photographs, visiting and
tending to the gravesite).
Continuing psychopathology and depression should be treated.
Diabetes
See diabetes.
Hypothyroidism
Sometimes as they age, a person with developmental disability
may have a subtle decline in overall functioning. It is important
to rule out thyroid disease when evaluating thisthe diagnosis
can be missed because of the nonspecifc nature of its symptoms
and its insidious onset. For discussion of hypothyroidism, see
eTGcomplete.
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Musculoskeletal disorders
Te practitioner needs to be aware of the susceptibility of
older people with developmental disability to falls, fractures,
osteoporosis and osteoarthritis.
Falls, fractures and osteoporosis
Impaired mobility is more common in older people with
developmental disability than in the general populationthis,
and other factors increase their risk of falls. Tese people are also
at greater risk of osteoporosis. Te combination of an increased
risk of falls and osteoporosis increases the risk of fractures.
Community-dwelling older people with developmental disability
are at high risk of fallsthey may beneft from preventive
intervention.
See eTG complete for advice on managing osteoporosis, pre-
venting falls and fractures, and restoring mobility.
Osteoarthritis
Osteoarthritis is more prevalent in people with developmental
disability as they get oldermuscle and joint disorders increase
(particularly in people with cerebral palsy). Management is
complicated by:
increased comorbidities
more complex muscle and joint problems
less regular physical activity.
Efective common treatments for osteoarthritis of the knee
include lower leg strengthening and aerobic exercise. Access to
this treatment, and adherence to it, may be more difcult for
people with developmental disability.
See eTGcomplete for further discussion on treating osteoarthritis.
Skin and temperature homeostasis
Older peoples skin becomes paler and more vulnerable to sun
damage, and wounds heal more slowly.
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Adults with developmental disability may not be aware that:
it is important to wear sunscreen
some drugs (eg certain antipsychotics) may make them more
vulnerable to sunburn.
Tey should be given advice on using sunscreen and not staying
out in the sun for long.
Heat dissipation is more difcult in the older person because
their number of sweat glands decreases. Older people are also
more susceptible to coldthey have thinner, less pliable skin
with less subcutaneous fat, and this interferes with insulation.
People with disability may not voice their discomfort and may
not be able to rectify the situation themselves. Support people
need to be aware it is important to:
monitor the older persons body heat
avoid leaving the older person unattended in the sun or shade
for long
check that the older person is warmly or coolly dressed (as
appropriate). Te need for more or less clothing can change
quickly (eg moving from a sunny veranda into the house).
Older adults experience less thirst, and so have increased risk
of dehydration and heat stroke. Two factors may increase this
risk even further in older adults with developmental disability.
Tese are:
difculty drinking
avoiding drinking, in an efort to manage continence.
Te older person and their support people need to understand
the importance of adequate fuid intake during warm weather.
AGEING IN PLACE
Ageing in place is mainstream practice in Australia. Many
services are available to older people, to help them stay at home
as long as possible.
State governments are responsible for disability services, while
the federal government is responsible for aged care. Aged care
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services for people in disability residential care vary in avail-
ability and quality between service providers. A further
complication is that sometimes people with developmental
disability have age-related disorders before the age of 65 years
(eg people with Down syndrome and Alzheimer disease). Tis
may cause confusion about whether they are eligible for aged
care services. Finding the best care for each person requires
advocacy, interagency cooperation, creativity and fexibility. It
is unlawful for service providers to discriminate on the basis of
disability.
Agencies such as Alzheimers Australia provide training for direct
care staf in disability group homes. Mainstream services such
as the Royal District Nursing Service provide nursing care. Tis
may allow the person to stay in a disability group home in the
community rather than move to an aged care facility. Managing
their incontinence may also enable a person to continue their
current living arrangements.
Some older people may feel isolated at home. Referral to
agencies for older people that provide volunteer or befriending
services can lessen this. Social workers can facilitate day-centre
placement. Transport services can include subsidised taxis.
As a person with developmental disability ages, their support
persons stress increases. Any informal support person is likely
to be ageing as well. Te reason for increased stress should be
determined. Te person with disability can be referred to respite
services (eg day and night respite, residential home placement
for short periods). Te support person can be referred for in-
home aged care assistance. Tey can also be referred to an
occupational therapist, to assess their function in daily activities
and any equipment needs.
Environmental modications
Occupational therapists and physiotherapists can give advice on
modifying the environment to maximise a persons function in
their home. Te general practitioner may also be called upon to
give advice.
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Although older people usually need more light to see adequately,
they are susceptible to glare. Blinds and curtains that difuse light
may be helpful. Shiny polishes and paints should be avoided,
especially in kitchens and bathrooms.
Background noise may be a problem, particularly in congregate
care facilities or shared houses. If the older person has a hearing
impairment, conversations in a noisy environment (eg noise
from music or appliances) should be avoided.
See general advice on enhancing vision and hearing in people
Environmental modifcation and simple safety measures (eg
bathroom doors that open outwards, ramps and rails, equipment
[eg wheelchair, scooter]) can mean a person stays at home rather
than moving to an aged care facility.
Manual dexterity
Any decrease in manual dexterity may make it more difcult to
open bottles, jars and doors. Tis applies to the ageing support
person as much as to the person with developmental disability.
To avoid problems opening childproof bottles or blister
packs, the doctor can ask for drugs to be dispensed in a dose
administration aid (eg dosette box, Webster pack).
PLACEMENT IN AGED CARE FACILITIES
Some older people with developmental disability are infrm or
have advanced dementia, and placement in a nursing home is
appropriate. Tis group of people is more likely to be socially
isolated and have limited fnancial and personal resources,
making access to aged care facilities more difcult.
Some older people with developmental disability have never had
contact with disability services. Teir family has provided all
their care. Future planning for those people living with ageing
parents is important but difcult, due to limited accommodation
options. Parents ofen cannot accept putting their child in
residential care.
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It is common for older people with disability to be placed in
an aged care facility when family caregivers can no longer look
afer them. Tis may be precipitous, due to a sudden decline
in health or the death of the family caregiver. Te person with
developmental disability may not have any age-related physical
or mental decline. Tey are grieving and in an environment that
does not cater to their social, emotional and activity needs. Tis
may result in behaviours that staf and others fnd challenging.
It is important not to use psychotropic drugs to ease social
problems.
Hostel placements may be problematic. Te person with disabil-
ity may be independent in self-care, but not able to cope with the
relatively unstructured environment of a hostel. Tis may lead to
challenging behaviours and breakdown of the placement. If the
hostel cant provide more structured care, the person should be
placed in a disability group home.
Bittles AH, Bower C, Hussain R, Glasson EJ. The four ages of Down syndrome. Eur J Public
Health 2007;17(2):221-5.
2002;57(7):M470-2.
Campbell AJ, Buchner DM. Unstable disability and the uctuations of frailty. Age Ageing
1997;26(4):315-8.
Cooper SA. Clinical study of the effects of age on the physical health of adults with mental
retardation. Am J Ment Retard 1998;102(6):582-9.
Cooper SA. Epidemiology of psychiatric disorders in elderly compared with younger adults
with learning disabilities. Br J Psychiatry 1997;170:375-80.
Cooper SA. High prevalence of dementia among people with learning disabilities not
attributable to Downs syndrome. Psychol Med 1997;27(3):609-16.
de Winter CF, Magilsen KW, van Alfen JC, Penning C, Evenhuis HM. Prevalence of
cardiovascular risk factors in older people with intellectual disability. Am J Intellect Dev
Disabil 2009;114(6):427-36.
Draheim CC. Cardiovascular disease prevalence and risk factors of persons with mental
retardation. Ment Retard Dev Disabil Res Rev 2006;12(1):3-12.
Haveman M, Heller T, Lee L, Maaskant M, Shooshtari S, Strydom A. Major health risks
in aging persons with intellectual disabilities: an overview of recent studies. J Policy Pract
Intellect Disabil 2010;7(1):59-69.
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Haveman M, Perry J, Salvador-Carulla L, Walsh PN, Kerr M, Van Schrojenstein Lantman-de
Valk H, et al. Ageing and health status in adults with intellectual disabilities: results of the
European POMONA II study. J Intellect Dev Disabil 2011;36(1):49-60.
Janicki MP, Dalton AJ, Henderson CM, Davidson PW. Mortality and morbidity among
older adults with intellectual disability: health services considerations. Disabil Rehabil
1999;21(5-6):284-94.
Patja K, Iivanainen M, Vesala H, Oksanen H, Ruoppila I. Life expectancy of people with
intellectual disability: a 35-year follow-up study. J Intellect Disabil Res 2000;44(Pt 5):591-9.
Sohler N, Lubetkin E, Levy J, Soghomonian C, Rimmerman A. Factors associated with
obesity and coronary heart disease in people with intellectual disabilities. Soc Work Health
Care 2009;48(1):76-89.
Torr J, Strydom A, Patti P, Jokinen N. Aging in Down syndrome: morbidity and mortality.
Journal of Policy and Practice in Intellectual Disabilities 2010;7(1):70-81.
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Womens health
Women with developmental disability have the same health
concerns as all women, and should be managed in the same way.
To make appropriate management decisions, it is essential to:
understand the womans level of disability
appreciate the level of her self-care skills
be aware of her activities and the environment in which she
lives.
For a young woman with disability, even moderate menses may
seriously diminish her quality of life. Her menses may increase
the number of:
carers involved in her menstrual hygiene care, afecting her
sense of personal space
days she misses physical activities (eg swimming), due to the
need for menstrual pads.
Te adolescent who is always in a supervised social environment
may have less need for contraception than a friendly and sociable
adolescent who is not stranger aware.
Sexual expression is a normal part of life. However, it is most
important to consider a womans capacity to consent to a sexual
relationship.
Potential reproductive health concerns that must be considered
include:
the need for contraception/risk of pregnancy
the risk of sexual abuse
menstrually linked symptoms (pain, heaviness, cyclic physical
and mood symptoms, catamenial epilepsy).
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Management should be guided by the following principles:
A woman with developmental disability has the right to
current standards of care and the full range of management
options. If women without disability are able to have their
quality of life improved by menstrual management, so
should women with disability.
Te womans best interests have priority, not the interests of
others.
Every efort must be made to overcome the womans
physical, cognitive and communication difculties.
Education strategies are the frst stage of the continuum of
least restrictive alternatives.
ONSET OF PUBERTY
Girls with intellectual disability usually mature physically
and develop sexual awareness at the same time as the general
population. Tis means they should be taught about sex and
interpersonal relationships at the usual age.
Puberty is considered to be delayed in girls if they have no signs
of sexual maturation (eg breast development) by the age of
13years. Delayed puberty is rarely associated with the primary
cause of disability. Rather, it may be related to low body weight
and poor nutrition resulting from the disability. Other causes
may also underlie the delay and should be investigated. For
discussion of delayed puberty in girls, see eTGcomplete.
MENSTRUAL EDUCATION
Te aim of menstrual management for a woman with
developmental disability is the same as for all women. She
needs to understand and manage this normal body function
in a hygienic and socially acceptable manner, with assistance
when necessary. Many schools provide education on puberty,
menstruation and menstrual hygiene. Some young women with
an intellectual disability may fnd:
the presence of blood on their underclothes distressing
wearing pads difcult and uncomfortable.
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Terefore, introducing these topics before the onset of menses
can be helpful. Families and schools can be encouraged to use
books with simple illustrations when talking about these topics.
Several organisations ofer resources and programs to teach
girls and women with developmental disability to manage their
menstruation. Resources are also available for support people,
including general practitioners (GPs). For example, resources
for teaching menstruation management are available from
the Centre for Developmental Disability Health Victoria (see
Supporting women) and Family Planning Victoria. Referral to
the local family planning clinic may be helpful, as sometimes
they have staf who specialise in educating people with disability.
Acquiring these self-care skills, and identifying with the rest of
the female population, is essential in developing self-esteem.
Self-care skills are essential in developing self-esteem.
Te person responsible for making sure a girl with developmental
disability understands about menstruation should cover several
topics. Tese include:
giving a direct explanation of menstruation (eg bleeding that
all women have each month from a hole between their legs),
and repeating this regularly
teaching pad management (preferably by demonstrating on
her body, otherwise by imitating or using an anatomically
correct doll)
showing her how to use incontinence products if she cant
tolerate pads
teaching that menstruation is private.
Afer education, most women with intellectual disability can
manage their menstruation (with or without supervision).
Women with severe intellectual disability can be encouraged
to be involved in their menstrual management, or at least to
tolerate assistance.
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CONTRACEPTION
Te full range of contraceptive options is available to women
with intellectual disability. Te choice may be limited by her:
intellectual capacity (partners capability may be relevant)
physical manipulative skills (partners capability may be
relevant)
social skills (eg negotiating the use of condoms)
medical conditions, physical disabilities, medication.
See matters to consider before deciding to use contraception.
With patience, understanding and appropriate counselling,
the womans contraceptive needs can be assessed and she can
be taught how to use the chosen method. Tis method should
be the best available for the woman, not necessarily the easiest
to provide. Te rhythm method and barrier methods are rarely
suitable for women with intellectual disability.
Contraception diminishes the potential of pregnancy. By
removing this consequence, the risk of sexual abuse or sexually
transmitted infections may increase.
Hormonal contraception
Contraception choice is discussed in eTG complete. Oral,
injectable or intrauterine hormonal contraceptives may be
considered. When adherence to therapy cannot be assured,
options include:
a levonorgestrel-releasing intrauterine contraceptive device
(IUCD)
an etonogestrel subdermal implant
depot medroxyprogesterone acetate (DMPA).
Te reliability of oral contraception is reduced in women
taking enzyme-inducing antiepileptic drugs. DMPA or a
levonorgestrel-releasing IUCD provides efective contraception.
A combined oral contraceptive pill (COCP) containing
oestradiol 50 micrograms may be used if a woman prefers to
continue using oral contraception. For further discussion, see
eTGcomplete.
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Oral contraception
Efectiveness of oral contraception depends on adherence to
therapy. Many women with developmental disability can be
reliable pill takers, or can be assisted or supervised by their
support people.
Combined oral contraception is discussed in eTG complete,
including advice for patients before prescribing. Coincident
disabilities may be contraindications (eg immobility, past
cardiovascular accidents and deep vein thrombosis).
More and more, monophasic COCPs are being used continu-
ously, as there is no evidence that withdrawal bleeds are required.
Te monophasic COCP is used continuously for as many months
as possible until spotting begins, then the woman has a 4-day
break. Tis is sometimes difcult to achieve, but seems to be an
efective strategy.
Clinical experience suggests that the monophasic COCP, used
continuously, assists in the management of epilepsy if seizure
frequency is related to the menstrual cycle. Well-controlled
epilepsy does not contraindicate using the COCP. However, it is
important to be aware of potential interactions with antiepileptic
drugs (see contraception in epilepsy in eTGcomplete).
Progestin-only oral contraception is efective and valuable
if oestrogen is contraindicated. Good adherence to therapy
is essential. For information, see eTG complete. Tis form of
contraception is not reliable in women who are taking oral
antiepileptic drugs.
Injectable hormonal contraception
DMPA is a valuable option when regular pill taking is difcult.
Advantages of DMPA are that it:
provides efective long-term contraception with a low
incidence of adverse efects and no known drug interactions
protects against pelvic infammatory disease and endometrial
and ovarian carcinoma
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produces amenorrhoea
creates a stable hormonal environment that may help with
cyclic/catamenial epilepsy.
For more information on DMPA (including its adverse efects),
see eTGcomplete. DMPA has potential for misuse in women who
cannot give informed consent to its use or to sexual intercourse.
A careful discussion of its use with those responsible for the
womans care is mandatory.
A subdermal etonogestrel implant (as described in eTGcomplete)
is an efective and convenient form of contraception. Tis is
another option when adherence to therapy cant be assured.
However, if irregular bleeding occurs, this may be a problem if
the woman cant tolerate it. Etonogestrels efcacy is reduced in
the presence of antiepileptic drugs.
Vaginal contraceptive ring
Te cost of, and difculty using, a vaginal contraceptive ring
limits its role in women with developmental disability.
Intrauterine contraceptive devices
Te levonorgestrel-releasing IUCD is an option for contraception
in women with developmental disability. It combines reliable
contraception with the advantages of endometrial protection,
and signifcantly reduces menstrual loss and dysmenorrhoea.
However, it does not help manage catamenial epilepsy. Also,
it may not diminish cyclic mood symptoms if they result from
hormonal changes. For further discussion of this device, see
eTGcomplete.
Copper IUCDs are used infrequently, whether or not a woman
has developmental disability.
Sterilisation
Te levonorgestrel-releasing IUCD (see above) should be con-
sidered before contemplating a tubal ligation. It is an equally
reliable contraceptive, requires a less invasive procedure and
has additional benefts.
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Sterilisation may be an option as a form of contraception, but
only if:
it is in the womans best interests
other less restrictive reversible methods of contraception
cant be used, or have been unsatisfactory.
Strict laws govern sterilisation.
Legal authority is required before sterilisation of:
a person under 18 years of age
an adult who lacks capacity to make decisions.
For a child, the Family Court of Australia can provide author-
isation. In Queensland, both the Family Court of Australia and
the Queensland Civil and Administrative Tribunal can provide
authorisation.
For an adult who lacks capacity, the guardianship authority in
each state can provide authority. See contact information.
EMERGENCY (POSTCOITAL) CONTRACEPTION
For emergency (postcoital) contraception, levonorgestrel is used
as described in eTGcomplete.
Te clinician should consider whether the woman needs ongoing
contraception, and review her risk of sexually transmitted
infections.
HEALTH SCREENING
For women with developmental disability, the principles and
practice of reproductive health screening procedures (eg
mammograms, vaginal examinations, Papanicolaou [Pap]
smears) are the same as for all women. Te GP should perform
screening tests at the intervals shown in Table 9.
Reassurance, explanation and use of appropriate educational aids
before the procedure overcomes most difculties. See advice on
physical examination. Sedation or anaesthesia for routine vaginal
examinations is not common practice in Australia. If a woman
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fnds the examination distressing or difcult, the beneft of a Pap
smear needs to be weighed against this.
Tere is a high incidence of sexual abuse in people with
developmental disability. It is not mandatory to report suspected
abuse of adults. However, if the health practitioner or carer
suspect a woman has been abused, they should give serious
consideration to reporting it.
GYNAECOLOGICAL DISORDERS
Diagnosing gynaecological problems can be difcult in women
with developmental disability. Details of her history may not be
easy to obtain from the woman or her support people. Pelvic
examination may be difcult to perform and interpret, or not
possible without an anaesthetic. Ultrasound may help clarify the
clinical picture, but is usually limited to abdominal ultrasound.
Symptoms indicating possible pathology warrant examination
under anaesthesia, if a satisfactory examination cannot be
achieved without it.
MENSTRUAL DISORDERS
Clinical experience suggests the same disorders of menstruation
are seen in women with developmental disability as in the
general population. For advice on managing these disorders, see
eTGcomplete.
Menstrual irregularity, menorrhagia (heavy periods) and
dysmenorrhoea (painful periods) are common in all women
during adolescence, and may occur later in life as well.
Disturbed behaviour related to the menstrual cycle can be due
to premenstrual syndrome (PMS) or dysmenorrhoea. In women
with developmental disability, this may be associated with self-
injury. Disturbed behaviour, premenstrual symptoms and
menstruation need to be charted for three cycles (eg using the
PMS symptom chart in eTG complete). Tis confrms whether
behavioural change is related to PMS or to other factors.
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Oligomenorrhoea (infrequent periods) is common in women
with intellectual disability, particularly if they are underweight
or overweight. It is ofen related to other medical conditions or
medication.
Epilepsy is frequently associated with developmental disability.
Menstrual irregularity, polycystic ovary syndrome and hyper-
androgenism are more common in women with epilepsy.
Antipsychotic drugs can cause hyperprolactinaemia and
secondary amenorrhoea. Concentrations of serum prolactin
two to three times the upper limit of normal are consistent
with this efect. For treatment of hyperprolactinaemia, see
eTGcomplete.
MENSTRUAL SUPPRESSION
Menstrual suppression is the temporary or permanent cessa-
tion of menstruation, using drugs or surgery. Sometimes
menstrual suppression may be in a womans best interests, to
manage medical and behaviour problems. However, it should
only be considered when all less restrictive options have been
trialled and failed. Many women without disability using the
monophasic combined oral contraceptive pill (COCP) opt to
skip their periods for a variety of reasons (eg symptom relief,
quality of life, convenience). Tis option can also be ofered to
women with disability.
Conditions and situations when menstrual suppression may be
appropriate include:
gynaecological conditions (eg menorrhagia,
endometriosis, premenstrual syndrome [PMS])
catamenial (menstrual-associated) epilepsy or other
symptoms associated with menstruation (eg vomiting)
when it is an informed decision or request of the woman
when a woman is likely to injure herself or others
when it will improve the womans quality of life.
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Decisions to use drugs to suppress menstruation, solely because
of behaviour problems, are controversial. Such a decision is
best made by a multidisciplinary group, in conjunction with
the womans support people. Reference to the guardianship
authorities or their equivalent may be required (see the chapter
on legal concerns).
Drugs
Menstruation and its associated symptoms and problems may
be reduced by using cyclic hormones or achieving a constant
hormonal state.
Cyclic progestins (eg medroxyprogesterone acetate or nor-
ethisterone daily for 21 or 28 days) or cyclic COCPs result in
predictable periods that are usually lighter and less painful. Teir
use is associated with a reduced risk of endometrial cancer.
A stable hormonal environment minimises cyclic symptoms
and may result in amenorrhoea. Tis constant hormonal state
may be achieved with:
depot medroxyprogesterone acetate (DMPA)
a continuous monophasic COCP
a continuous oral progestin (eg norethisterone10mg daily or
medroxyprogesterone acetate 20to 30mg daily).
DMPA produces amenorrhoea in 57% of women afer
12months. It has also been reported to reduce seizure frequency
in catamenial epilepsy. Most studies report no adverse efects
on lipids. DMPA may have a small long-term adverse efect
on bone mineral density (BMD), reversible when the drug is
discontinued.
If long-term use of progestins appears likely, one approach is to
measure BMD afer 6months of therapy, to give a baseline. If the
womans BMD is already suboptimal, other contributing factors
can be explored. Te womans BMD can be measured again afer
18months (ie 2years afer starting therapy), to identify whether
it is diminishing. If the BMD has decreased, oestrogen therapy
(continuous) may be considered to prevent bone loss.
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Surgery
Surgery is rarely required to manage menstruation in a woman
with developmental disability. It should only be considered afer
all less invasive options have failed.
Endometrial ablation produces amenorrhoea in fewer than 50%
of women and oligomenorrhoea in about 30%. Menstruation
ofen returns, and 30% of women need further surgery within
5years. Endometrial ablation is not contraceptive.
Hysterectomy to eliminate normal menstruation is rarely ap-
propriate, and never justifed before menarche. In 0.5% to 1% of
women, hysterectomy with ovarian conservation results in the
onset of menopause within 6 months. Tis is presumably due
to an alteration in ovarian blood fow. If the womans ovaries
are removed at the time of hysterectomy, menopause occurs
abruptly. Te symptoms are ofen distressing. In the longer term,
the woman has increased risk of coronary artery disease and
osteoporosis.
Legal authorisation is needed for either procedure.
PREGNANCY
When a woman with developmental disability becomes
pregnant, this may be a result of consensual sexual intercourse.
Te practitioner should also consider that the pregnancy might
be a result of sexual abuse, including incest, and alert appropriate
authorities if indicated. Tese women ofen need signifcant
levels of support during and afer their pregnancy.
In some circumstances it may be in the best interest of the woman
to consider a termination of pregnancy. Appropriate authority
from the relevant guardianship authority is required, as this is
a special medical procedure (see the chapter on legal concerns).
Parents with intellectual disability are frequently socially isolated
and poorly supported by community and personal networks.
Parenting capacity should not be presumed to be inadequate.
Strengthening social support systems in such families is
important.
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MENOPAUSE
Troublesome menopausal symptoms may not be reported
or observed in women with developmental disability. Te
risk for cardiovascular disease and osteoporosis increases in
postmenopausal women. Tis risk is ofen even higher in women
with developmental disability, because they have multiple risk
factors.
For detailed discussion of menopause and its appropriate
treatment, and steps to take to prevent osteoporosis, see
eTGcomplete.
Center JR, McElduff A, Beange H. Osteoporosis in groups with intellectual disability. Aust
NZ J Dev Disabil 1994;19:251-8.
Goldstein H. Menarche, menstruation, sexual relations and contraception of adolescent
females with Down syndrome. Eur J Obstet Gynecol Reprod Biol 1988;27(4):343-9.
Grover SR. Gynaecological issues in adolescents with disability. J Paediatr Child Health
2011;47(9):610-3.
Grover SR. Menstrual and contraceptive management in women with an intellectual
disability. Med J Aust 2002;176(3):108-10.
Parker Jones K, Douglass J. Gynecologic problems. In: Rubin IL, Crocker AC, editors.
Developmental disabilities: delivery of medical care for children and adults. Philadelphia:
Lea & Febiger; 1987.
Quint EH, Elkins TE, Sorg CA, Kope S. The treatment of cyclical behavioral changes in
women with mental disabilities. J Pediatr Adolesc Gynecol 1999;12(3):139-42.
Richman GS, Reiss ML, Bauman KE, Bailey JS. Teaching menstrual care to mentally
retarded women: Acquisition, generalization, and maintenance. J Appl Behav Anal
1984;17(4):441-51.
Savasi I, Spitzer RF, Allen LM, Ornstein MP. Menstrual suppression for adolescents with
developmental disabilities. J Pediatr Adolesc Gynecol 2009;22(3):143-9.
Tymchuk AJ, Llewellyn G, Feldman M. Parenting by persons with intellectual disabilities: a
timely international perspective. J Intellect Dev Disabil 1999;24(1):3-6.
Zacharin M, Savasi I, Grover S. The impact of menstruation in adolescents with disabilities
related to cerebral palsy. Arch Dis Child 2010;95(7):526-30.
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Mens health
Men with developmental disability should receive the same
health care as men in the general population. If there is a clear
reason for deviating from this standard, it should be documented.
Many endocrine diseases (eg androgen defciency) present with
symptoms rather than physical signs. If the man has difculty
communicating verbally, he may present atypically. A high
degree of clinical suspicion and regular surveillance is required.
Inguinal hernia is ofen undiagnosed in men with developmental
disability.
DELAYED PUBERTY AND ANDROGEN
DEFICIENCY
In the past, if delayed puberty occurred in a boy with
developmental disability, the default position was not to treat.
Tis position may have been prompted by the difculties of
dealing with inappropriate or unacceptable behaviour (eg public
masturbation) in adolescents with developmental disability.
However, failure of puberty has major consequences, including
lack of appropriate growth and development, and osteoporosis
as an adult. Delayed puberty in boys with developmental
disability should be treated as in the general population (see
eTGcomplete), with a cautious go-slow approach. Adverse social
consequences (eg public masturbation, adolescent aggression)
should be monitored.
Androgen defciency has been reported to be more common in
men with developmental disability (eg Down syndrome, Prader-
Willi syndrome, other syndromes). Unfortunately, it is less likely
to be recognised or formally acknowledged in this population.
Untreated androgen defciency causes poor quality of life, poor
muscle development, increased fat mass and osteoporosis.
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Additional risk factors that contribute to osteoporosis in men
with developmental disability include immobility (especially
if wheel-chair bound), antiepileptic drugs and vitamin D
defciency (for discussion of osteoporosis, see eTG complete).
Treatment of androgen defciency is the same as for the general
population (see eTG complete), with the caveat of monitoring
younger patients for social consequences (as above).
CRYPTORCHIDISM
Cryptorchidism (undescended testes or testes not in the scrotum)
is more common in hypogonadal males than in males with
normal gonadal development. It is also associated with several
syndromes of intellectual disability. Inguinal cryptorchidism
carries a 4-fold lifetime increased risk of testicular cancer. Te
risk is higher for an intra-abdominal testis. Te risk of testicular
cancer has been found to be increased in men with severe
intellectual impairment.
In clinical practice, if one testis (or both) cannot be identifed, the
undescended testis should be found. Ultrasound examination is
usually the frst procedure.
If possible, the undescended testis should be brought into the
scrotum (preferably before puberty) to allow routine regular
surveillance. Intra-abdominal testes that cannot be brought
down by orchidopexy should be removed.
TESTICULAR SURVEILLANCE
Testicular examination is recommended as self-care for all
young men. Routine medical examination of men with develop-
mental disability should include annual testicular palpation.
Tis is especially important in men with a previous history
of cryptorchidism, whether or not orchidopexy has been
performed. Men with developmental disability may not present
if they feel a lump, and support people need to be aware of this.
Testicular examination also provides the opportunity to:
assess penile hygiene in uncircumcised men
provide education to prevent phimosis and paraphimosis.
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Men's health 144
ERECTILE DYSFUNCTION
Erectile dysfunction is common, and its prevalence increases
afer the age of 40 years. By the age of 65 years, between 25% and
45% of men have clinically signifcant erectile difculties.
Occasionally a man with mild developmental disability
complains of erectile dysfunction. Any man with developmental
disability who complains of erectile dysfunction should receive
the same respect and treatment as a man without developmental
disability. Tis includes assessment of possible contributing
factors (eg cardiovascular risk factors or androgen defciency).
Erectile dysfunction is discussed in detail in eTGcomplete.
Center J, Beange H, McElduff A. People with mental retardation have an increased
prevalence of osteoporosis: a population study. Am J Ment Retard 1998;103(1):19-28.
Cortada X, Kousseff BG. Cryptorchidism in mental retardation. J Urol 1984;131(4):674-6.
McElduff A. Endocrinological issues. In: Prasher VP, Janicki MP, editors. Physical health of
adults with intellectual disabilities. Oxford: Blackwell Publishing; 2002. p.160-80.
McElduff A, Beange H. Mens health and well-being: testosterone deciency. J Intellect
Dev Disabil 2003;28(2):211-3.
McElduff A, Center J, Beange H. Hypogonadism in men with intellectual disabilities: a
population study. J Intellect Dev Disabil 2003;28:163-70.
Patja K, Eero P, Iivanainen M. Cancer incidence among people with intellectual disability. J
Intellect Disabil Res 2001;45(Pt 4):300-7.
Sullivan WF, Berg JM, Bradley E, Cheetham T, Denton R, Heng J, et al. Primary care of
adults with developmental disabilities: Canadian consensus guidelines. Can Fam Physician
2011;57(5):541-53, e154-68.
Wilson NJ, Cumella S, Parmenter TR, Stancliffe RJ, Shuttleworth RP. Penile hygiene:
puberty, paraphimosis and personal care for men and boys with an intellectual disability. J
Intellect Disabil Res 2009;53(2):106-14.
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Preventive health care and health promotion 145
Preventive health care and
health promotion
Preventive health care is important in people with disability.
People with developmental disability ofen do not communicate
well and ofen do not complain. Tey rarely request vaccinations,
or ask for their cholesterol or glucose concentrations to be
measured. Support people may be reluctant to suggest tests. An
annual complete physical examination by a general practitioner
(GP) increases health promotion, disease prevention and case-
fnding activity. Medicare items apply for health assessments
and may be relevant for care planning in this group of patients.
General screening tests should be performed according to
the same indications and contraindications as for the general
population (see Table 9). See advice on physical examination of
Special screening tests are indicated when there is a family
history of heritable diseases (eg colon cancer, familial
hypercholesterolaemia, glaucoma). When possible, details of
family history should be obtained from relatives, as support
people may not have this information.
EXERCISE
For ambulant people with developmental disability, the
usual exercise recommendations and guidelines apply. For
nonambulant people, referral to an allied health professional (eg
physiotherapist) to assist with a modifed exercise program is
valuable.
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IMMUNISATION
All people with developmental disability should be vaccinated
according to the standard National Immunisation Program
(NIP) schedule. In addition to the usual routine vaccinations,
vaccinations for infuenza, pneumococcal disease, hepatitis A
and hepatitisB may be appropriate. For advice, see Te Australian
Immunisation Handbook.
Children and adults (especially) with developmental disability
may not have records of their vaccination history. Older people,
and people who have had several residential placements, ofen
lack complete (or any) health records. When few records exist,
catch-up vaccination is important.

A catch-up calculator for
children up to the age of 7years is available.
MEDICATION REVIEW
Regular medication reviews are important for a person with
developmental disability, because:
polypharmacy is common
their drug regimens may not have been changed or reviewed
for many years
some drugs may no longer be indicated
more efective drugs may be available, with less adverse efects
their drug dosages may need adjusting (ofen dosages are
unnecessarily high)
the route of drug administration may not be appropriate (eg
intramuscular administration prescribed, but the person is
capable of taking drugs orally).
Ofen, because of difculty in obtaining a past history, it may
not be possible to determine why certain drugs were prescribed
initially. If a drug has no clear current indication, it should be
cautiously withdrawn.
As people with developmental disability age, they are likely to
develop medical problems that require additional medications.
At the same time, their capacity to metabolise and excrete
drugs may be declining. Tere is much potential for drug
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drug interactions and adverse efects from increased serum
concentrations of drugs. Hence the indications for drugs, and
their dosages, should be reviewed at least every 6to 12months.
NUTRITION
Weight problems (obesity and being underweight) are more
prevalent in people with developmental disability than in the
general population. As in the general population, both conditions
have signifcant health consequences. Tey should not be accepted
as inherent to the persons disability. For advice on managing
weight problems, see the chapter on nutritional disorders.
Other nutritional problems may include vitamin and mineral
defciencies.
SMOKING
Smoking is a major health concern that should be addressed
in adults with developmental disability, as for the general
population. It is important to provide advice, support and
education programs on smoking cessation. If the person has a
coexisting psychiatric disorder, therapy for smoking cessation
may need to be discussed with their psychiatrist.
Beange H, Lennox N, Parmenter TR. Health targets for people with an intellectual disability.
J Intellect Dev Disabil 1999;24(4):283-97.
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Challenging behaviour: assessment and management 148
Challenging behaviour:
assessment and
management
People with developmental (including intellectual) disability
have a high prevalence of challenging behaviours. Some
consequences for the person exhibiting challenging behaviours
are social isolation, skill impairment, distress and limited
accommodation and employment opportunities. Consequences
for support people (family, friends and staf) include stress and
physical injury. Higher staf ratios are needed. Te exhibition
of challenging behaviours limits the ability of people with
developmental disability to live full and happy lives.
Challenging behaviours have been defned as behaviours of
such intensity, frequency or duration that the physical safety of
the person or others is placed in serious jeopardy or behaviour
which is likely to seriously limit or deny access to the use of
ordinary community facilities.
*
Challenging behaviours may be self-directed or outward. Self-
directed behaviours include:
self-injury
withdrawn behaviour
repetitive (stereotyped) behaviour.
Outward behaviours include:
agitation (eg pacing)
aggression (eg property destruction, hitting out)
*
Emerson E, Cummings R, Barrett S, Hughes H, McCool C, Toogood A. Challenging
behaviour and community services 2. Who are the people who challenge services? J
Brit Inst Ment Handicap 1988;16(1):16-9.
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social inappropriateness (eg sexualised behaviours in a public
area)
noncompliance (eg not following directions)
Examples of common challenging behaviours are when:
a person with severe intellectual disability hits themself
about the face and head, causing bruising and open wounds
a person with mild intellectual disability becomes
uncooperative and abusive with support people
a person with autism spectrum disorder and moderate
intellectual disability refuses to go to a public placeif taken
to the public place, they become aggressive and run away
from support people
a person with intellectual disability becomes withdrawn and
lethargicin the presence of mild intellectual disability, they
might also complain of stomach pain and nausea.
CAUSES
Te onset or exacerbation of challenging behaviour in a person
with developmental disability may have many causes. Tese
include:
communication difculties, resulting from:
the persons communication impairment
confusing or inconsistent communication from support
people
physical disorders that cause pain and discomfort
medication
psychiatric disorders
abuse (physical and psychological)
changes in the persons routine
changes in the persons physical and social environment.
Challenging behaviour in a person with developmental disability
usually has more than one cause.
It should not be assumed that a persons developmental disability
is the cause of their challenging behaviour. However, it may be
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a contributing factor. For example, for a person with severe
intellectual disability who cannot speak, challenging behaviour
might be their only way to communicate.
Physical causes
Any health problem can lead to pain and discomfort in a person
with disability, and may present in an atypical manner. At initial
presentation, there may be no clue to the underlying disorder.
When a person presents with loss of skills, an underlying organic
cause needs to be excluded.
Terry is a 58-year-old man with moderate intellectual
disability of unknown origin. He has autistic tendencies.
He has suffered epilepsy since early childhood and takes
2 antiepileptic drugs. Terry does not speak but indicates
some of his needs via gestures. He toilets himself, being
private about this and ushing the toilet immediately after
use. Terry presents with a 3-week history of loss of appetite.
It has been noted he is banging his head more often than
usual. He has also been yelling in his bedroom, which is
uncharacteristic.
Tere can be many physical reasons for Terrys challenging
behaviour.
Physical conditions that are more prevalent in people with
developmental disability include musculoskeletal or dental pain,
unrecognised infections, constipation and bowel obstruction,
and gastro-oesophageal refux disease (GORD). Dental
conditions and GORD can cause pain associated with eating,
and can subsequently lead to self-injury. Otitis media, chronic
sinusitis, constipation and the nausea and discomfort from a
urinary tract infection can cause loss of appetite and weight loss.
Tese conditions may also precipitate or perpetuate behaviours
that indicate distress.
Long-term antiepileptic therapy and inactivity can predispose a
person to osteoporosis. An undiagnosed fracture, or a joint or
muscle injury, can cause discomfort and loss of appetite.
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Even in the absence of cardinal symptoms (eg cough), a person
may have pneumonia.
See advice on medical assessment. See the chapter on adult
health care for discussion of these physical conditions.
Environmental causes
Interactions between the person with disability and family,
staf or others can trigger challenging behaviour. For example,
a person may exhibit challenging behaviour to gain attention
or to avoid doing something theyve been asked to do. When
assessing altered behaviour, changes in staf or room-mates at
the residential home should be considered as a possible cause.
A person with no disability is likely to express considerable
dissatisfaction if they:
share a room with someone they dislike
spend several hours a day with someone who upsets them.
People with developmental disability cannot be expected to be
any diferent.
Sometimes support staf may contribute to the persons
challenging behaviour because they:
do not understand the limitations of low intellectual
functioning
have low tolerance to any form of sexual behaviour
are stressed.
Many people with developmental disability have little control
over their lives, and depend on familiar faces and daily routines.
For some people, this dependency is a consequence of the rigidity
of living in an institution when younger. Other people (eg with
autism spectrum disorder) have a phenotype that demands
a predictable environment. Disruptions to their external
environment can cause signifcant emotional and psychological
distress. Sometimes the only way they can communicate this
distress is through their behaviour. Teir distress could also
result from being a victim of abuse (psychological, physical,
sexual or fnancial).
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People with developmental disability form close attachments
to family and other support people (as do people without
disability). Te loss of a long-term support person may feel
like the death of a family member. Unless anticipated, this grief
can be hard to recognise. Similarly, ceasing a favourite activity
or much anticipated routine can engender feelings of loss. In
a nonverbal person, this may only be expressed through their
challenging behaviour.
Psychiatric causes
Psychiatric disorders are more prevalent in people with
intellectual disability, and need to be considered as a potential
cause of challenging behaviour (see the chapter on assessing
psychiatric disorders).
Behavioural phenotype
Certain behaviour may be associated with particular syn-
dromes (behavioural phenotypes). For example, skin picking is
associated with a number of syndromes. Exacerbation of typical
behaviours does need to be investigated. It should not simply be
ascribed to the syndrome.
MANAGEMENT
Challenging behaviour ofen has several contributing factors.
Efective management involves a team approach and the use of
systematic methodology by the clinician. Options for referral
(eg to a behaviour support team or a psychologist familiar
with positive behaviour support) should be considered early
in management. Waiting lists may be substantial, and it may
take a while to fnd the best option. Behaviour support teams
may be accessed via government disability departments (see
disability resources). To locate a psychologist with behaviour
support training, see Find a psychologist on the Australian
Psychological Society website. Te following checklist (Table 11)
is a useful guide to assessment.
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Table 11. Checklist for assessing and managing
Steps
1. Assess the safety of the person with developmental disability
and everyone who lives and works with them
2. Describe the challenging behaviour (including frequency,
duration, setting and severity)
3. Consider the persons environment as a source of triggers for
behaviour and address situation if needed
4. Perform a medical and psychiatric assessment. Continue
gathering information
5. Integrate other resources and assessments
6. Review and plan intervention
7. Manage and refer
8. Monitor and review
Safety
Te frst priority in managing challenging behaviour is safety.
Tis applies to the person with developmental disability and
the people who live and work with them. It may take weeks or
months to understand the reasons for the challenging behaviour.
Meanwhile, everyone needs to be (and feel) safe.
Temporary containment, restraint and sedation
To contain a difcult situation, the person with developmental
disability may need to be constrained and/or sedated for a short
time. It is important that these are temporary measures, and do
not become permanent (eg ongoing prescription of a sedating
drug, ofen an antipsychotic). Any form of restraint may have
legal implications, which vary from state to state. See advice on
drug use in behavioural emergencies and eTGcomplete.
Protection
People with developmental disability have a high risk of injury
and abuse. Tis risk is even greater when they are displaying chal-
lenging behaviour. Tey may need protection from others (eg
stressed support people, bewildered and anxious housemates).
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Emergency plan
Support staf and families need to have an emergency plan or
crisis intervention plan. Tis plan states what to do and who to
call when a situation becomes unsafe. Having a plan promotes
a feeling of safety. Both support staf and families should be
helped to develop an emergency plan, and reach agreement with
their colleagues and other family members about its content.
Te plan could be developed with a behaviour support team or
a psychologist with experience in positive behaviour support.
Describe challenging behaviour
Many terms are used to describe the challenging behaviours of
a person (eg agitated, inappropriate, restless), but these terms
provide limited information about the actual behaviour. A clear
description of the challenging behaviour is the starting point for
a comprehensive assessment. Te description should include
frequency, setting, duration, and severity. For example:
Behavioural overview: aggressive (hitting people with fsts)
Frequency: 3days out of the last 5 (2episodes a day)
Setting: day centre
Duration: 10minutes
Severity: 5 on a 5-point scale. Others have been injured (eg
bruised).
Assess medical and psychiatric status, and
continue gathering information
As a result of their cognitive and communication problems,
medical problems may present diferently in people with
developmental disability. A thorough medical assessment is
important when they present with challenging behaviour, to
identify hypotheses for:
potential causes
factors that perpetuate the behaviour
associated medical problems and risks that may result.
Before conducting the medical and psychiatric assessment,
the clinician should document and consider the history of the
persons behaviour.
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Table 12. Questions to guide a history of challenging
behaviour
General questions
about the behaviour
Further prompts
When is it most likely to occur? When did it begin?
What is its relationship to meal times?
Is it worse at night?
What happens immediately
before it?
Where is the person?
What are they doing?
What are others doing?
Does any activity or event make
it more likely?
Is it more likely with exercise?
Does it follow eating certain foods?
What is its long-term history? Does it follow certain medical events?
Has it occurred in association with a
particular medical problem?
Has it occurred in association with a drug
being withdrawn or started?
Has it always been present, but not as
severe as now?
Does it have a medical cause? What is the underlying cause of the
persons developmental disability?
What is their past medical history?
Does the person have any associated
medical disorders that could explain their
behaviour?
Behavioural history
A detailed behavioural history may provide information that
aids diagnosis or directs further investigation. Standardised
assessment forms can be used (eg the functional behavioral
assessment interview form). Alternatively, Table 12 (above) lists
helpful questions.
Te clinician may also ask whether any interventions have been
tried already, and if so, how efective they were.
Te general behavioural history of the person with developmen-
tal disability should be followed by a careful systems review,
focusing on the areas of concern that have been identifed.
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Symptoms of epilepsy should receive particular attention. If the
person has a history of seizures, their frequency and efect on
behaviour should be determined.
Medical assessment
Te doctor must examine the patient thoroughly. Sometimes it is
difcult to perform a comprehensive physical examination of a
person with developmental disability. See advice on performing
physical examinations and investigations.
Te doctor should have a high index of suspicion and a low
threshold for further investigations. Investigations (eg urinalysis,
blood tests, X-rays and endoscopy) should be performed unless
they are likely to cause undue stress. Afer this, the person can
be diagnosed and treated appropriately.
Systematic approach
A systematic approach is ofen advisable when considering
medical causes for challenging behaviour. Te diagnostic model
proposed by Murtagh
*
is a useful guide.
Common conditions that occur at specifc ages may point to the
diagnosis. Some examples are:
a 20-year-old man with autism, presenting with head banging,
may have an impacted wisdom tooth
a 35-year-old woman with developmental disability, and
aggressive outbursts before and during her periods, may have
dysmenorrhoea
a noncompliant and agitated 55-year-old man with Down
syndrome may have dementia.
Potential causes of challenging behaviour that are serious medical
conditions and should be considered include malignancy, serious
infections and cardiovascular and cerebrovascular disease.
Cardiovascular symptoms may present late. Cardiovascular
disease should be considered in any older patient who is
struggling with physical work or exercise (eg an obese 45-year-
*
Murtagh J. A safe diagnostic strategy. In: John Murtaghs general practice. 5th ed.
North Ryde, NSW: McGraw-Hill Education; 2011. p.1507
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old man, with a strong family history of cardiovascular disease,
who starts refusing to go on walks during his day program).
Problems that are commonly missed include adverse drug
reactions, domestic abuse, seizure disorders, faecal impaction,
urinary tract infection, migraines, oesophagitis and menopausal
symptoms. Tese are all relatively common in people with
developmental disability. But they are more difcult to diagnose
(and likely to be overlooked) in people with cognitive and
communicative difculties.
Te nature and context of the persons challenging behaviour
should be considered. It may indicate a particular medical
problem (eg agitation at meal times might signify difculty
swallowing, inhalation or refux) or a masquerade. Masquerades
are conditions that may present as other problems or physical
states. Most common are depression, endocrine disorders
(including diabetes and thyroid disorders), adverse efects
of drugs and anaemia. All can cause behavioural change in a
A thorough medical examination is important to identify injuries
that may result from (or be causing) challenging behaviour.
Psychiatric assessment
Challenging behaviour may be related to psychiatric disorders,
which are more common in people with developmental disability.
Te behaviour may also have environmental and social causes.
Accurate diagnosis and appropriate treatment of the psychiatric
disorder is ofen essential for efective management of the
behaviour.
Depression and anxiety are more common than psychotic
disorders. Tey may present as challenging behaviours, but
be misinterpreted as psychotic symptoms. Autism spectrum
disorder ofen coexists with intellectual disability, and may not
be recognised. It can contribute to challenging behaviour and
afect its management.
See assessing psychiatric disorders.
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Information gathering
It is good practice to continue collecting information about a
persons challenging behaviour during their assessment (ie while
working on a hypothesis and implementing a treatment plan).
Others involved with the person can contribute information
as well. Neglecting to collect information is the most common
explanation for confusion about:
the underlying cause of the behaviour
whether the challenging behaviour has improved or become
worse
efcacy of an intervention.
Existing data
Many agencies keep patient information fles that may go back
over many years. Tey may contain valuable information, and it
is important to look at them.
Information is routinely collected in many settings (eg records
of pro re nata [prn; as needed] drug use, staf injury claims,
incident records, bowel charts, seizure records). Te clinician
should ask to see this information, or ask a support person
to make a summary. A graph of the frequency of using a prn
drug may give an indication of the frequency and severity of
Ongoing data collection
Te general practitioner (GP) can suggest that the challenging
behaviour is monitored by the persons family or support staf,
using individualised data sheets or standardised checklists.
Tese are all useful for ongoing data collection. Sleep pattern,
weight changes and mood fuctuations are the most important
indicators of wellbeing.
Data sheets are individually written for the person with
developmental disability and their situation. Tey can be based
on the hypothesis for why the challenging behaviour is being
exhibited. Data about the challenging behaviour are recorded
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to establish a baseline from which to measure outcomes and
monitor progress. Table 13 (below) is an example of a data
sheet. In this example, the hypothesis is that Davids self-injury
is related to mealtimes. Staf or a family member record how
many times the behaviour occurs during each meal.
Table 13. Individualised data sheet for monitoring
challenging behaviour (example)
Name: David
Challenging behaviour: Self-injury (hits hand to head)
Family/staff
name
Date Hits hand to head (number of times)
Breakfast Lunch Dinner Daily total
Ben 3 Aug 12 10 13 35
Standardised checklists a clinician could use include the Aberrant
Behavior Checklist
*
, the Contextual Assessment Inventory
and
the Developmental Behaviour Checklist.
Integrate other resources and assessments
Sometimes the person with developmental disability has had
challenging behaviours for much of their life. Other professionals
have probably assessed them. Tese assessments (eg from
schools, speech pathologists, psychologists, paediatricians) can
be useful to the clinician.
Services for people with developmental disability may include
behavioural support teams for assessing and treating challenging
behaviours. Tese teams ofen use applied behaviour analysis
(ABA) methodology. ABA methodology uses observational
*
Aman MG, Singh NN. Aberrant behavior checklist: ABC. New York, NY: Slosson
Educational Publications; 1986

McAtee M, Carr EG, Schulte C, Dunlap G. A contextual assessment inventory for
problem behavior initial development. J Posit Behav Interv 2004;6(3):14865 (a copy
of the inventory is in the appendix to the article)
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and experimental strategies to identify a function or cause that
reinforces the behaviour. Te information is used to develop a
behaviour intervention plan.
Te intervention strategies may target fve areas:
ecological or setting event (setting where the behaviour takes
place)
immediate antecedent event (event immediately before the
behaviour)
response of support people to the behaviour, and skill training
for the person with developmental disability (if their lack of
certain skills is contributing to their display of challenging
behaviour)
consequences of the behaviour
emergency procedures.
Behavioural support teams ofen recognise that medical
assessment is needed. Tey may initiate a medical referral to a
GP or psychiatrist, to assess if there is an underlying undiagnosed
medical or mental health problem. Te support team can change
the environment of the person with developmental disability, to
alter the exhibition of challenging behaviours. If necessary, they
can also support any medical or psychiatric intervention needed
by the person to decrease their challenging behaviour.
Te information from the behavioural support team needs to be
integrated with the clinicians information.
Review and plan intervention
Te clinician can review their completed medical and psychiatric
assessment of the person with developmental disability and the
available information. On the basis of this review they can make
a diferential diagnosis that identifes the most likely cause of
the persons challenging behaviour. Tey can also identify the
factors that contribute to it.
Te clinician should document the following:
description of the challenging behaviour
support persons concerns
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safety concerns
medical and psychiatric problems
objective measures of the behaviour.
Te clinician should also know what organisations provide
services for the person with developmental disability. With
all this information, they can discuss and formulate the most
efective management strategies and referral options. When
making these decisions, factors to be considered include:
potential benefts and harms of each option
availability of resources
long- and short-term efects on the person with developmental
disability.
Manage and refer
Options for managing the person with developmental disability
and challenging behaviour include:
referral to appropriate practitioners and service providers
education and skill development
environmental modifcations
improving communication.
In some situations the clinician may take the lead role in
managing the person with developmental disability. For example,
if the underlying cause of the challenging behaviour is mainly
medical, it might be appropriate for the medical practitioner to
take the lead role. Similarly, if the behaviour is mainly learnt,
a behavioural support team or psychologist may have the lead
role.
In general, assessment of more specialised medical and
psychiatric problems requires referral to an appropriate
specialist. Common general practice problems (eg depression,
dysmenorrhoea) can be managed by the GP. Resources to
manage challenging behaviours vary, depending on local
support services and their confguration.
In certain situations, drugs may be considered necessary to treat
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Whatever the management strategy, good communication
between the professionals and service providers involved is
important for a thorough assessment and efective management.
Environment
It is essential that people live in an environment that supports
them. To maintain their mental health, all people need an
environment with:
appropriate living conditions
vocational opportunities
supportive social networks
meaningful leisure time.
Common problems for people with developmental disability
are:
overstimulating or understimulating environments
confusing or inconsistent communication
social isolation
being placed in demanding situations
unrealistic expectations of their abilities.
Te person with developmental disability is likely to respond
best to appropriate modifcations to their environment, thus
avoiding medication. For example, people with a strong need
for a predictable environment respond well to structure and
consistency. A person with disability who does not like living
with, or being with, certain room-mates or staf, would beneft
from diferent living arrangements. Teir clinician can advocate
for this.
Several strategies may help support people to minimise
challenging behaviour. Tese include:
coordinated management of all the support people working
with a person with developmental disability (a consistent
approach helps all concerned)
respite care for the person with developmental disability and
their support people
attention to the health needs and lifestyle concerns of support
people
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education for support people, so:
their expectations of the person with developmental
disability are realistic
they are familiar (and comply) with legislation (when
appropriate)
they have strategies to manage their stress.
Education and skill development
It may be helpful for the person with disability to learn more
skills for coping with their environment. Learning new skills can
increase their integration into society and is also benefcial for
their self-esteem and capacity to cope.
One example is learning to interact more appropriately with
others, by increasing their social skills. Another example is
learning how to wait, by teaching the person how to amuse
themselves while they wait. Tey could learn leisure skills (like
puzzles) or how to work their CD or MP3 player to listen to
music.
Communication
Communication can be improved by referring the person with
developmental disability and their friends, family or other
support people (including staf) to a specialist (eg speech
pathologist, psychologist). Tey can advise on communication
strategies and augmentative and alternative communication
techniques (eg signing, visual diary). See communicating with a
Monitor and review
Afer identifying the cause of the challenging behaviour and
establishing a management plan, it is important to review
the persons progress regularly. Continuing data collection
is desirable. Te persons response to the intervention, and
observations over time, might suggest a new diagnosis and a
more efective strategy.
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Aman MG, Singh NN. Aberrant behavior checklist: ABC. New York, NY: Slosson Educational
Publications; 1986.
Davis R, Radler G. Behaviour intervention. Aust Fam Physician 1993;22(8):1457-60, 62,
64.
Davis R, Thurecht R. Care planning and case conferencing. Building effective multi-
disciplinary teams. Aust Fam Physician 2001;30(1):78-81.
Donnellan AM. Progress without punishment: effective approaches for learners with
behavior problems. New York: Teachers College Press; 1988.
Emerson E, Cummings R, Barrett S, Hughes H, McCool C, Toogood A. Challenging
behaviour and community services 2. Who are the people who challenge services? J Brit
Inst Ment Handicap 1988;16(1):16-9.
Gourash LF. Assessing and managing medical factors. In: Barrett RP, editor. Severe
behavior disorders in the mentally retarded: nondrug approaches to treatment. New York:
Plenum Press; 1986.
Kansas Institute for Positive Behavior Support. Functional behavioral assessment interview
form [156 KB]. Lawrence, KS: KIPBS; accessed May 2012.
Lucyshyn JM, Albin RW. Comprehensive support to families of children with disabilities
and behavior problems: keeping it friendly. In: Singer GHS, Powers L, editors. Families,
disability, and empowerment: active coping skills and strategies for family interventions.
Baltimore: Brooks; 1993. p.365-407.
McAtee M, Carr EG, Schulte C, Dunlap G. A contextual assessment inventory for problem
behavior initial development. J Posit Behav Interv 2004;6(3):148-65.
Murtagh J. A safe diagnostic strategy. In: John Murtaghs general practice. 5th ed. North
Ryde, NSW: McGraw-Hill Education; 2011. p.150-7.
Oberlander TF, Symons FJ. Pain in children and adults with developmental disabilities.
Baltimore, Md.; London: Paul H. Brookes Pub.; 2006.
OBrien G. Behavioural phenotypes in adulthood. In: Understanding Intellectual Disability &
Health [website]. London: St Georges, University of London; 2003.
ONeill RE. Functional assessment and program development for problem behavior: a
practical handbook. 2nd ed. Pacic Grove; London: Brooks/Cole Pub.; 1997.
Richdale A, Francis A, Gavidia-Payne S, Cotton S. Stress, behaviour, and sleep problems in
children with an intellectual disability. J Intellect Dev Disabil 2000;25(2):147-61.
Ryan R, Sunada K. Medical evaluation of persons with mental retardation referred for
psychiatric assessment. Gen Hosp Psychiatry 1997;19(4):274-80.
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Challenging behaviour: drugs 165
Challenging behaviour:
drugs
Sometimes psychotropic drugs are used to manage challenging
behaviour in people with developmental disability. Medical
practitioners are ofen asked to make decisions about initiating,
changing or continuing psychotropic drugs in this setting. Tis
practice has a limited evidence base. Also, ethical concerns arise
when drugs are used to treat behaviour that is underpinned by
environmental (rather than biological) factors. Many people
with developmental disability are on high doses of drugs and/or
multiple drugs, sometimes without a clear rationale.
Challenging behaviour has many causes. Before considering the
use of psychotropic drugs as part of the management plan, the
cause of the persons behaviour should be determined and treated
where possible (see the chapter on assessing and managing
challenging behaviour). Te one possible exception is an acute
situation when the person or others are at physical risk from the
behaviour. Emergency treatment may be needed (see safety and
behavioural emergencies). Te cause of their behaviour should
still be investigated.
CHOOSING WHETHER TO PRESCRIBE DRUGS
Before deciding whether to prescribe a psychotropic drug to
manage challenging behaviour in a person with developmental
disability, the questions in Box 3 should be considered.
Drugs may themselves cause or aggravate challenging behaviour.
Reducing or stopping some drugs may have a positive outcome.
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Box 3. Questions before prescribing psychotropic
drugs to manage challenging behaviour
1. Is the person (or are others) at risk of injury from the behaviour? (see
safety, aggression)
2. Have the potential causes of the behaviour been assessed?
3. What is the hypothesis for the cause of the behaviour?
4. What interventions have been tried? What were their outcomes?
5. Does the behaviour warrant treatment with drugs without a clear
psychiatric or medical diagnosis?
6. Is there a drug that may help this person?
7. Do the benets outweigh the harms of prescribing this drug?
8. How can the efcacy and adverse effects of the drug be monitored?
Sometimes drug treatment may be considered appropriate
for a person with developmental disability, even though their
challenging behaviour lacks a traditional psychiatric or medical
diagnosis. In general, drugs may be justifed if the persons
behaviour is:
persistent over time
pervasive across situations
frequent
severe in another way, because it:
may cause injury to them or others
compromises their health
distresses them
causes breakdown of residential and day placement
restricts their activities and community access.
It is always necessary to obtain consent to treatment. If the
person lacks capacity to provide consent, a substitute decision-
maker may need to provide consent on their behalf. Diferent
arrangements may apply in diferent states. See contact details
for the guardianship authorities.
Certain psychotropic drugs may be helpful for particular
problem behaviours. Some may help the person make better use
of a nonpharmacological approach (eg by lifing their mood or
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reducing their agitation, so they can apply relaxation techniques
better). However, due to their sedative efect, psychotropic drugs
may also interfere with new learning. Tis may compromise
other treatments.
Longer term use of psychotropic drugs to manage challenging
behaviour requires regular monitoring for efcacy and adverse
efects. Monitoring drugs such as lithium can be a problem.
DRUG TREATMENT PLAN
Afer exploring the questions in Box 3, the clinician may
consider drugs to be appropriate for the person with challenging
behaviour. Tey should prepare a treatment plan following the
steps below. Te person with developmental disability (where
possible), their family and other support people should be
consulted.
First, in relation to the challenging behaviour, the clinician
should:
defne the target behaviour and outline techniques for
measuring it
take a reliable baseline measure
formulate a hypothesis for its cause
develop a treatment rationale (this may include reducing or
ceasing current psychotropic medication).
When selecting a drug, the clinician should:
assess the best available evidence for its efect on the target
behaviour
ensure it is the best choice for the person
ensure its potential benefts outweigh its potential harms.
See precautions to consider before prescribing psychotropic
drugs.
Clear treatment outcomes need to be defned. It is important to
have sufcient resources to monitor the:
frequency and severity of the persons behaviour
efcacy and adverse efects of the drug.
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A regular review process should be developed, based on pre-
determined outcomes. Tis must be agreed to by all parties
involved in the decision to treat.
Te person must be informed of the potential benefts and
adverse efects of the drug. Consent to the treatment is needed.
When treating people with developmental disability, start any drug
at a low dose and slowly increase it.
Drug treatment should start with a low dose. A general principle
when prescribing drugs for people with developmental disability
is to start low and go slow. It may be prudent to start some
people on half the usual recommended dose. Te patient should
be reviewed before any dose increases. Te aim is to use the
lowest efective dose of the drug. Continuing treatment with the
drug should be based on its:
efect on the persons target behaviour
adverse efects.
Finally, the review process should be ongoing.
Assessing the efcacy of a particular drug is a dynamic process.
It depends on the accuracy and reliability of the defnition of
the behaviour and the observation techniques. In many cases, a
clinician may not be able to satisfy all the steps above. A harm
beneft analysis determines how to proceed in this situation.
Te clinician may need to engage a psychiatrist, psychologist or
(preferably) a multidisciplinary team skilled in this area.
BEHAVIOURAL EMERGENCIES
Te following information about people with developmental
disability should be read in conjunction with Behavioural
emergencies in eTGcomplete.
In a behavioural emergency, the person with developmental
disability usually settles spontaneously. Sometimes an emergency
is triggered by an unfamiliar environment in frightening
circumstances (eg at hospital admission). It is important to
consider the situation from the persons point of view, and make
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eforts to ease their anxiety and fear. Te best course of action
may be to make sure they are safe and wait for them to settle.
Sometimes the level of danger is such that a tranquillising drug is
needed. Tere is a scant evidence base for safe doses of drugs for
managing this situation in people with developmental disability.
Te upper limits of doses of sedating drugs recommended in
eTGcomplete could be excessive for some of these people.
Upper limit doses of sedating drugs can be dangerous for people
Respiratory complications (including aspiration pneumonia) are
the main cause of premature death in people with developmental
disability. When the person is sedated, it is mandatory that
nursing or medical professionals monitor their vital signs
and protect their airway. Tis may mean the person has to be
transferred to hospital.
Afer the person settles, the clinician should reassess the situation
and look for a cause for their behaviour.
SELF-DIRECTED BEHAVIOUR AND OUTWARD
BEHAVIOUR
It is helpful to recognise whether a persons problem behaviour
is directed primarily towards themselves (ie self-directed) or
others (ie outward).
Self-directed behaviour
Common types of self-directed behaviour that may merit drug
treatment include self-injury and stereotyped behaviour.
Self-injury
Self-injury in people with developmental disability can be
relatively harmless hitting and scratching. However, it ranges
through to injuries that cause major physical damage or even
death. Tis behaviour is resistant to behavioural management
programs. When it is severe, it may be treated with drugs.
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Antipsychotic drugs may reduce stereotyped behaviour that
causes self-injury, primarily by their anxiolytic efect (see also
eTGcomplete).
One theory for continuing self-injury is that it induces
endogenous opioids or beta endorphins. Tese modulate pain
and induce a feeling of euphoria. Naltrexone is a narcotic
antagonist, and should only be used in patients with serious
compulsive nonvolitional self-injury.
Stereotyped behaviour
Stereotyped behaviours are repetitive motor acts with no
adaptive function. Tey are highly idiosyncratic and fxed in
form in each case. Actions such as rocking the body, hand-
fapping or head-rolling are common examples among people
with developmental disability. Many studies have shown that
antipsychotic drugs (in particular, low-dose risperidone)
decrease stereotyped behaviour (see also eTGcomplete).
Outward behaviour
Common types of outward behaviour that may merit drug
treatment include aggression and agitation.
Aggression
Aggressive behaviours include physical violence, verbal threats
and abuse and property destruction. Psychiatric disorders (eg
mania) need to be considered as a cause.
Sometimes drugs may be needed to manage aggressive behaviour
in a person with developmental disability. For example, when
there is:
continuing risk to the person and those around them
refractoriness to behaviour management and other
nonpharmacological programs or strategies.
Diminishing the persons tendency to aggressive behaviours
may allow environmental and behavioural interventions to be
more efective.
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Acts of aggression are ofen intermittent, resulting from poor
impulse control when provoked. Increasing the doses of the
persons regular medication is not usually efective. Short-term
tranquillisation may be more appropriate. Here, the usual order
of preference for drugs is:
selective serotonin reuptake inhibitors
antipsychotics
carbamazepine and sodium valproate (for their efect on
mood)
other drugs (eg beta blockers, lithium).
Selective serotonin reuptake inhibitors
Depression is common in people with developmental disability,
and may present as irritable mood and associated aggressive
behaviours. Te diagnosis is ofen missed.
Selective serotonin reuptake inhibitors (SSRIs) have been shown
to moderate aggressive behaviour, sometimes in people without
proven depressive symptoms. Te efcacy of SSRIs results from
both their antidepressant and anxiolytic efects. As SSRIs are
well tolerated and have relatively few adverse efects, a trial
may be worthwhile. People with developmental disability are
more prone to certain common adverse efects of SSRIs than
the general population. Tey may become agitated or manic.
Also, SSRIs reduce the seizure threshold, and this is a problem
in a population in which epilepsy is common. It is advised to
commence therapy at half the standard recommended dose,
with half-dose increments.
Antipsychotic drugs (anxiolytic major tranquillisers)
When antipsychotic drugs are used to treat challenging behaviour,
most ofen it is to take advantage of their anxiolytic efect. All
types of antipsychotic drugs (frst- and second-generation) have
been used to diminish aggressive behaviours. Te choice of
drug depends on its adverse efect profle. People with disability
ofen have obesity, constipation, poor oral health and mobility
problems. It is preferable not to give them drugs that make these
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problems worse. Even at low doses, antipsychotic drugs can
cause functional impairment through their sedative efect.
In the absence of frank mental illness, risperidone is the most
common antipsychotic drug used to diminish aggression. Its
advantage is a pronounced anxiolytic efect at low dose (0.5 to
1mgdaily), and it is available as a tablet, liquid or soluble wafer.
Carbamazepine and sodium valproate
Te evidence base for using carbamazepine and sodium valproate
for aggression is limited, but they are widely used. Teir use has
increased since their recognition as mood stabilisers. Dosing is
related to clinical response rather than to serum concentrations.
For further information, see the advice on treating mania
(acute) in eTGcomplete.
Other drugs
Beta blockers (eg propranolol) have been shown to moderate
aggressive behaviour, particularly explosiveaggressive episodes.
Tey are less likely to cause sedation than other drugs.
Beta blockers are contraindicated in people with asthma or
severe peripheral vascular disease.
Moderation of aggressive behaviour by lithium has a strong
evidence base. However, its narrow therapeutic range and the
need for regular blood tests (to monitor its serum concentration)
ofen limit its use in this population. It is a long-term therapy.
Lithium may be considered when aggression is associated
with autistic tendencies and occurs with hyperactivity. For
further information, see the advice on treating mania (acute) in
eTGcomplete.
Some patients need to reach a serum lithium concentration of
0.8to 1mmol/L before showing a response.
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Agitation
Sometimes a persons agitation and restlessness may be
misinterpreted. Importantly, it may be an adverse efect (eg
akathisia) of an antipsychotic drug they are taking.
Selective serotonin reuptake inhibitors and antipsychotic drugs
SSRIs or antipsychotic drugs may be used to treat agitation
when there is good evidence of underlying anxiety. No clear
evidence indicates which drugs are preferable, but in severe cases
most clinicians would use antipsychotic drugs. For appropriate
doses, see eTGcomplete.
Other drugs
Clomipramine has been shown to be efective when the
persons agitated and restless behaviour resembles obsessive
compulsive disorder. Even in such cases its use is limited,
and most clinicians would choose an SSRI as treatment.
Frequently clomipramine has anticholinergic adverse efects
(eg sweating, hot fushes, tachycardia) that may distress the
person. Drowsiness, confusion and disorientation may also be
a problem. For appropriate doses, see the advice on obsessive
compulsive disorder in eTGcomplete.
Lithium therapy is long term. It should only be considered for
agitation afer the failure of less intrusive therapies. Treatment is
the same as for aggression.
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Expert Consensus Guideline Series: Treatment of psychiatric and behavioral problems in
mental retardation. Am J Ment Retard 2000;105(3):159-226.
Baumeister AA, Todd ME, Sevin JA. Efcacy and specicity of pharmacological therapies
for behavioral disorders in persons with mental retardation. Clin Neuropharmacol
1993;16(4):271-94.
Bouras N, editor. Psychiatric and behaviour disorders in developmental disabilities and
mental retardation. Cambridge: Cambridge University Press; 1999.
Fraser WI, Kerr M, editors. Seminars in the psychiatry of learning disabilities. 2nd ed.
London: Gaskell; 2003.
Khreim I, Mikkelsen E. Anxiety disorders in adults with mental retardation. Psychiatr Ann
1997;27(3):175-81.
Luchins DJ, Dojka D. Lithium and propranolol in aggression and self-injurious behavior in
the mentally retarded. Psychopharmacol Bull 1989;25(3):372-5.
OBrien G. Pharmacological interventions. In: OBrien G, editor. Behavioural phenotypes in
clinical practice. London: Mac Keith; 2002.
OBrien G. Psychopharmacology in women with learning disabilities. In: Kohen D, editor.
Oxford textbook of women and mental health. Oxford: Oxford University Press; 2010.
OBrien G, Pearson J, Berney T, Barnard L. Measuring behaviour in developmental disability:
a review of existing schedules. Dev Med Child Neurol Suppl 2001;87:1-72.
Tyrer P, Oliver-Africano PC, Ahmed Z, Bouras N, Cooray S, Deb S, et al. Risperidone,
haloperidol, and placebo in the treatment of aggressive challenging behaviour in patients
with intellectual disability: a randomised controlled trial. Lancet 2008;371(9606):57-63.
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Psychiatric disorders: assessment 175
Psychiatric disorders:
assessment
Psychiatric disorders are two to three times more common
in people with intellectual disability. Estimates of prevalence
vary widely, according to the sample selection, defnition of
psychiatric disorder, diagnostic criteria and the clinicians
skill and experience. A number of factors make people with
developmental disability more vulnerable to psychiatric illness
(see Table 14). Tese factors may also precipitate episodes of
illness or complicate the clinical picture.
DIAGNOSTIC CRITERIA
In people with mild disability and good communication skills,
psychiatric disorders present as in the general population.
Standard diagnostic criteria (eg DSM-IV-TR, ICD-10) can
generally be applied. Tese criteria rely on a person being able
to report subjective experiences verbally. Tey are not valid
in more severe intellectual disability and/or communication
impairment. Tey also do not take into account the behavioural
manifestations or atypical features of psychiatric disorder in
Diagnostic criteria have been adapted for use in developmental
disability. Te Diagnostic ManualIntellectual Disability (DM-
ID)
*
relates to DSM-IV. Te Diagnostic criteria for psychiatric
disorders for use with adults with learning disabilities/mental
retardation (DC-LD)
relates to ICD-10.
*
Fletcher RJ, National Association for the Dually Diagnosed, American Psychiatric Associ-
ation, editors. DM-ID: diagnostic manual-intellectual disability: a clinical guide for diagnosis
of mental disorders in persons with intellectual disability. Kingston, NY: NADD Press; 2007.

Royal College of Psychiatrists. DC-LD: diagnostic criteria for psychiatric disorders for
use with adults with learning disabilities/mental retardation. London: Royal College of
Psychiatrists; 2001.
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Table 14. Risk factors for psychiatric disorder in
people with developmental disability
biological
underlying neurodevelopmental brain abnormalities
genetic disorders/behavioural phenotypes (eg fragile X
syndrome/social anxiety, Down syndrome/depression,
velocardiofacial syndrome/psychotic illness)
family history of psychiatric disorder
epilepsy
other comorbid medical conditions (eg hypothyroidism)
drugs (eg corticosteroids, beta blockers, adverse effects of
psychotropic drugs)
psychological
impaired cognitive skills
underdeveloped coping strategies
less control over life circumstances
vulnerability to repeated losses or separations
communication impairments
impaired acquisition of social, recreational and
interpersonal skills
low self-esteem from failure, rejection and physical
differences
social
higher risk of physical, sexual and emotional abuse and
neglect
lack of social support, social isolation
adverse life events (including abuse)
rejection, stigmatisation, discrimination
conict at home, disability group home, workplace or day
placement
carer stress
ASSESSMENT
Conducting a psychiatric assessment for a person with develop-
mental disability can be challenging. However, identifying and
appropriately treating psychiatric illness can profoundly improve
their level of functioning and quality of life.
Some challenges in assessment arise from intellectual or
communication difculties. Other challenges include referral
bias and a lack of specialist services and training in the area.
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Referrals are ofen initiated by a third party, and this can involve
referral bias. It is more likely for a person with challenging
behaviours to be referred than someone who is quietly depressed.
In approaching the psychiatric assessment of the person with
developmental disability, it is helpful to consider some basic
principles:
allow extra timeseveral sessions may be needed
tailor questions and communication style (see the chapter on
communicating with a person with developmental disability
perform physical examination and investigations as indicated
(see Box 4)
remember that epilepsy is a common comorbid condition
(see the chapter on epilepsy)
try to obtain collateral information from someone who has
known the person well for a number of years (see Box 5)
interview the patient on their own, if at all possible.
Box 4. Investigations to consider in psychiatric
disability
In the absence of focal signs or symptoms, basic screening tests in the
psychiatric assessment of a person with developmental disability include:
blood tests (full blood count, urea and electrolyte concentrations, liver
biochemistry, thyroid function tests)
urine microscopy, culture and sensitivity
Depending on presenting signs and symptoms, consider:
head scan (computerised tomography [CT] or magnetic resonance imaging
[MRI])
electroencephalogram (EEG), if any suspicion of epilepsy
plain abdominal X-ray, to exclude constipation
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Box 5. Obtaining collateral information in psychiatric
disability
Be alert to potential inuences on the quality and relevance of collateral
history, such as the:
extent of stress in those supporting the person with developmental
disability
professional background and experience of the referrer
referrers attitude towards, and knowledge of, the person
Maximise accurate collateral history by:
acknowledging that sources of collateral history may not have all the facts,
and may need help to identify the most relevant information
using monitoring charts to document relevant aspects of the persons
health (see ongoing data collection)
encouraging support people to identify someone to attend the
appointment who knows the person well
History taking
A full psychiatric assessment includes a comprehensive bio-
psychosocial history and mental state examination. When there
is limited time for assessment, focusing on obtaining a clear
history of the presenting complaint aids the diagnostic process
(see a broad outline of the basic areas to cover in Box 6).
Other important areas of inquiry include:
past medical and psychiatric assessments (including cause of
the disability, diagnosis of autism spectrum disorder)
family history of intellectual disability, autism spectrum
disorder or psychiatric illness
temperament and personality
level of functioning, previous education
developmental history (including attachments, losses, abuse,
accommodation moves).
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Box 6. History of presenting complaint in psychiatric
disability
Establish why the person with developmental disability has been referred,
and by whom
Obtain as clear a picture as possible of the persons functioning and
behaviour in the past (eg 2 years, 5 years ago) compared with the present
Ask about:
usual activities, level of function and enjoyment
changes in sleep, appetite, attention/concentration
mood changes, irritability, agitation
general or specic anxieties, xed routines/rituals
thoughts or talk of death/dying, hurting self or others
hearing voices (nature and content, see hallucinations)
new or unusual beliefs or habits
ANXIETY AND ASSOCIATED DISORDERS
Anxiety is frequent in people with developmental disability, as
a symptom or as a psychiatric disorder. High levels of anxiety
may cause agitation, increased repetitive behaviours or even
aggression. Excess anxiety is ofen associated with autism
spectrum disorder. Organic and medical factors (eg cafeine
intoxication, hyperthyroidism) must be excluded as a cause.
Also see management and further discussion in eTGcomplete.
Generalised anxiety disorder and panic disorder
Te anxiety and worry associated with generalised anxiety
disorder may be expressed in people with developmental
disability as fear and doubts about the present, the future,
personal health and the welfare of signifcant others. Associated
features include repetitive questioning, restlessness, agitation,
aggression and sleep and concentration problems. Panic attacks
may occur. If they are frequent, a separate diagnosis of panic
disorder may be warranted.
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Obsessive compulsive disorder
Obsessive compulsive disorder may present in a person with
mild developmental disability as recurring, intrusive and
distressing thoughts (obsessions) associated with anxiety. Tese
may lead to repetitive acts (compulsions) to allay the fears
and consequences associated with the obsessions. However, in
people with more severe developmental disability, obsessions
are usually less prominent. Compulsions alone may be the
predominant symptom. It may also be difcult to distinguish
between compulsions and the stereotypic and ritualistic
behaviours of autism spectrum disorder.
Phobic disorders
Simple phobias are common in people with developmental
disability. If they cause signifcant disturbance in function,
desensitisation procedures may be needed.
Social phobia can be difcult to diagnose. Many of its
manifestations overlap with the features of autism spectrum
disorder. Tey may also result from the lower level of education
and underdeveloped social skills related to the persons
MOOD DISORDERS
Mood disorders (ie depression, bipolar disorder or mixed
episodes) in people with developmental disability are discussed
below. Also see management.
Depression
A diagnosis of depression requires at least 2weeks of depressed
mood, loss of interest or pleasure and associated symptoms.
People with mild/moderate intellectual disability may express a
wish to die and even attempt suicide. People with greater degrees
of intellectual disability may not be able to tell others they are
feeling depressed.
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A 28-year-old woman with a history of minor skin picking
presents with severe self-injury over the last 2 months. She
has open wounds on her arms and legs. During this time
she has been irritable and unhappy, and has been found
crying in her room. She hits staff when they try to help her
onto the bus in the morning. She needs encouragement
to help with the evening chores. She picks at her food.
She goes to her room rather than watch her favourite
television shows with her housemates. She no longer joins
in conversations, and shrugs when staff try to talk with her.
Night staff have sometimes found her sitting alone in the
lounge room in the dark.
Table 15 documents common observable features of depression
in people with developmental disability, including irritable
mood. Other disorders (eg hypomania) may also present with
irritable mood. To avoid confusion with them, additional
indicators of depression need to be identifed (eg loss of interest
or pleasure).
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Table 15. Observable features of depression in
Behaviour Observable features
depressed mood tearful
appearing sad
smiling less or not at all
laughing less or not at all
irritable mood short tempered
verbally aggressive
physically aggressive (including damaging property)
loss of interest
or pleasure
refusing to, or needing prompting to, participate in
routine activities
no longer watching or enjoying favourite TV shows
unable to be cheered up
increased anxiety seeking reassurance
questioning repetitively
increasing repetitive behaviours
associated features spending more time alone
talking to, or interacting with, others less
losing skills
no longer completing tasks
showing self-injurious behaviour
biological symptoms changing sleep pattern
getting up during the night
getting up early
difcult to wake up in the morning
eating more or less
losing or gaining weight
showing psychomotor agitation or retardation
baseline
exaggeration of pre-
existing behaviours
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Bipolar disorder
Bipolar disorder is characterised by episodes of hypomania or
mania that may be interspersed with episodes of depression.
Table 16 lists the behaviour and observable features of hypo-
mania and mania. In mania, the dysfunction is more severe than
in hypomania, and may be accompanied by mood-congruent
delusions and hallucinations. Hypomania and mania can be easily
misdiagnosed as schizophrenia or behavioural disturbance.
A 40-year-old man with idiopathic intellectual disability
repeatedly absconds at night from his disability group home.
A review of his les shows this has been a recurring pattern
of behaviour since he was 17 years old. At the times when
he is absconding, he is noted to be silly and giggles
inappropriately. He is hyperactive and goes without sleep
for 2 to 3 days at a time. He masturbates in the lounge
room, intrudes in other peoples bedrooms, and turns the
lights on and off. He plays music at full volume and yells,
shouts and sings. He is irritable, physically threatening and
(at times) aggressive to others. He has hurled furniture and
torn down curtains and blinds. These episodes typically last
3 to 4 weeks and occur twice a year. In between episodes
he is more settled, sleeps well and has no inappropriate
behaviours.
Mixed episodes
In mixed episodes, features of mania and depression coexist.
Tis may be a more common presentation of bipolar disorder
in people with developmental disability. Mood is likely to be
irritable and labile. It may be difcult to distinguish agitated
depression (with markedly irritable mood) from hypomania.
For advice on treatment, see eTGcomplete.
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Table 16. Observable features of hypomania and
mania in people with developmental
disability
Behaviour Observable features
elevated mood extremely happy and cheerful
laughing, singing, whistling or skipping inappropriately
irritable mood verbally aggressive
physically aggressive (including destroying property)
biological features sleeping less (may not sleep for days)
losing or gaining weight
showing psychomotor agitation
associated
behaviours
increasing the intensity and frequency of usual
activities or traits (eg eating, drinking coffee, smoking)
changing from one activity to another
increasing activity levels (including pacing, walking
long distances, rearranging or throwing furniture)
increasing vocalisations
nonverbal patient: increasing quantity and volume
of speech or vocalisations (including shouting)
verbal patient: talking loudly and incessantly,
jumping between grandiose topics, wanting to do
things out of proportion to their skills and abilities
(eg driving a car, marrying and raising a family)
cocky, not responding to usual instructions and
redirections
dressing colourfully, wearing best clothes to day
placement, wearing more jewellery
showing disinhibited behaviour (including sexual
disinhibition)
SCHIZOPHRENIA AND RELATED PSYCHOSES
Psychoses are characterised by loss of touch with reality. Tey
are manifested by delusions, hallucinations or disorganised
thought patterns and behaviour. Also see management.
Delusions
In people with developmental disability, delusions and auditory
hallucinations tend to be more simple in theme and content
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(psychosocial masking). For example, the persecutory delusions
of a person with intellectual disability may simply relate to others
trying to get them into trouble. Tis contrasts with the more
elaborate persecutory delusions seen in the general population.
Wishful thinking (fantasies) must be distinguished from true
delusions (fxed, false, immovable beliefs that are out of keeping
with the persons circumstances, education and background).
Hallucinations
It may be difcult to diferentiate talking to oneself (more
common in developmental disability, especially Down
syndrome) from true auditory hallucinations. Asking whether
the person hears voices should be avoided, as it generates a high
false-positive response (see open-ended questions). Observable
features that may raise suspicion of true hallucinations include:
inherent fear or panic
looking at, or talking to, someone who is not there
a marked change in self-talk (eg from happy/friendly to
hostile/threatening).
Thought disorder
Formal thought disorder appears to be less forid in people with
developmental disability than the general population. Abnormal
use of language (pragmatic language disorders) in people
with autism spectrum disorder or fragile X syndrome may be
mistaken for thought disorder.
Diagnosis in people with severe developmental
disability or communication problems
Schizophrenia may be difcult to diagnose in a person whose IQ
is below50, who is mute or who has no means of expression. Te
following features may suggest the diagnosis:
bizarre and disorganised behaviour
withdrawal
isolation
regression in skills and function
fear of, and inexplicable targeting of, another person.
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American Psychiatric Association. Task Force on DSM-IV. Diagnostic and statistical
manual of mental disorders: DSM-IV-TR. 4th ed. Washington, DC: American Psychiatric
Association; 2000.
Bouras N, Holt G. Psychiatric and behavioural disorders in intellectual and developmental
disabilities. 2nd ed. Cambridge: Cambridge University Press; 2007.
Davis JP, Judd FK, Herrman H. Depression in adults with intellectual disability. Part 1: A
review. Aust N Z J Psychiatry 1997;31(2):232-42.
Davis JP, Judd FK, Herrman H. Depression in adults with intellectual disability. Part 2: A
pilot study. Aust N Z J Psychiatry 1997;31(2):243-51.
Deb S, Matthews T, Holt G, Bouras N. Practice guidelines for the assessment and
diagnosis of mental health problems in adults with intellectual disability. Brighton, UK:
Pavilion; 2001.
Einfeld SL. Clinical assessment of psychiatric symptoms in mentally retarded individuals.
Aust N Z J Psychiatry 1992;26(1):48-63.
Fletcher RJ, National Association for the Dually Diagnosed, American Psychiatric
Association, editors. DM-ID: diagnostic manual-intellectual disability: a clinical guide for
diagnosis of mental disorders in persons with intellectual disability. Kingston, NY: NADD
Press; 2007.
Fraser WI, Kerr M, editors. Seminars in the psychiatry of learning disabilities. 2nd ed.
London: Gaskell; 2003.
Torr J, Lennox N, Cooper SA, Rey-Conde T, Ware RS, Galea J, et al. Psychiatric care
of adults with intellectual disabilities: changing perceptions over a decade. Aust N Z J
Psychiatry 2008;42(10):890-7.
World Health Organization. International statistical classication of diseases and related
health problems. 10th ed. Geneva: World Health Organization; 1992.
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Psychiatric disorders: management 187
Psychiatric disorders:
management
Te management of psychiatric disorders in people with
developmental disability generally follows the biopsychosocial
approach used for the general population. Tis chapter discusses
ways to optimise their management. Refer to eTGcomplete for:
more detailed information on pharmacological therapy
specifc guidelines for children and adolescents.
KEY MANAGEMENT POINTS
People with disabilities, including people with developmental
disability, have a right to access efective health care of the same
standard as those without disabilities.
*
Te approach to managing people with developmental disability
mirrors that used in the general population (with some
modifcations). Tis is not surprising, given that intelligence and
developmental skills lie along a continuum.
People with milder developmental disabilities who experience
psychiatric disorders can be managed with individually tailored
psychosocial and pharmacological approaches. Te approach
taken should consider the treatment setting. For example,
disabilityspecifc group homes do not have staf with mental
health expertise. Also, within this setting there are restrictions
on giving drugs pro re nata (prn ie as needed).
People with severe to profound intellectual disability and people
with marked communication defcits need a modifed approach.
*
United Nations Enable. Convention on the rights of persons with disabilities. New York,
NY: UN Secretariat for the Convention on the Rights of Persons with Disabilities; 2006.
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Tis may involve:
use of communication aids
increased reliance by the clinician on:
interpreting nonverbal communication of symptoms,
response to treatment and adverse efects
reports from support people and formal records.
Te onset or exacerbation of challenging behaviour needs
careful evaluation for environmental, physical, psychiatric and
pharmacological triggers.
Specialist mental health and disability expertise is usually needed
for highly complex situations, including:
acute psychotic or manic episodes
mental disorders complicated by suicidal thoughts or
behaviour
situations of inadequate oral intake
severe personality disorder with risk of harm to self or others
co-occurrence of psychiatric disorder and challenging
behaviour.
Before initiating any treatment, a medical practitioner has a
legal responsibility to obtain consent. If the person who is to
receive the intervention cannot comprehend the information
or formulate and indicate their choice, substituted consent is
needed.
PSYCHOLOGICAL INTERVENTIONS
Psychological interventions are an important part of treating
psychiatric disorders in people with developmental disability.
Te lives of many people with developmental disability
include loss, exclusion and fragmented supports. In this social
context, psychological interventions may be more important
than previously recognised, and there is increasing interest in
their use. Te evidence base for their efectiveness is small, but
expanding.
For many people with developmental disability, the usual
approach to psychotherapy is modifed by:
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simplifying concepts
repeating the presentation of material
using pictures and other aids
enhancing the behavioural aspects of the therapy
engaging a support person as an aide (where appropriate).
Psychotherapies for people with developmental disability can
be conducted with individuals or in groups. Psychotherapy
should be considered frst-line management for mild and
uncomplicated anxiety and depressive disorders.
Behavioural therapy
Behavioural therapy has a long and efective history in treating
challenging behaviour in people with developmental disability.
It may also have a role in treating psychiatric disorders. For
example, behavioural therapies can be used to treat:
compulsive rituals, as part of obsessive compulsive disorder
escalating aggression, in the context of depression.
Cognitive behavioural therapy
Cognitive behavioural therapy (CBT) aims to change problematic
thoughts, emotions and behaviour by using a systematic,
goal-oriented approach. CBT has been used in people with
developmental disability to treat anger management, depression,
anxiety disorders, eating disorders, substance use disorders,
personality disorders and trauma. Despite this widespread use,
CBTs efectiveness has had limited evaluation. Te strongest
evidence is for using CBT in anger management. Adaptations
for people with developmental disability may include:
taking longer to establish rapport
simplifying explanations and homework tasks
engaging a support person as co-therapist.
Dialectical behaviour therapy
Dialectical behaviour therapy combines aspects of CBT with
mindfulness techniques and distress tolerance. It has been
used extensively to treat personality disorder in the general
population and in ofender populations. Preliminary studies
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have shown this therapy is useful in people with intellectual
disability in these settings.
Family systems therapy
Family systems therapy is not only useful for people with
developmental disability who live within families. It is also
useful for people with developmental disability who live within,
or interact with, complex support systems (including disability
agencies and programs). Research into the efectiveness of
family systems therapy in people with developmental disability
is limited. Tis type of therapy has greatest beneft in resolving
problems that arise from the way diferent components of the
persons supports interact.
Psychodynamic psychotherapy
Individual and group psychodynamic psychotherapies have
shown some use in people with developmental disability.
Situations studied include bereavement and low-level
behavioural disturbance. However, the evidence base is limited
and dominated by studies with small samples and inadequate
controls.
Psychodynamic psychotherapy is useful to treat a specifc
problem in a person with:
relatively intact expressive and receptive language
a well-developed capacity for self-refection.
Most ofen this is someone at the upper end of mild intellectual
disability.
Supportive psychotherapies
Te components of supportive psychotherapy include
empathic listening, education, assistance with problem solving,
encouragement and (when appropriate) reassurance. Education
and problem solving need to be appropriate for the persons
language development. Tere is more emphasis on practical
activities. Te Books Beyond Words series can be a useful resource
during supportive interventions.
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PSYCHOTROPIC DRUGS
Te pharmacological management of psychiatric disorders in
people with developmental disability is essentially the same
as for the general population (see eTG complete). Principles of
prescribing in this context are listed in Box 7.
Psychotropic drugs should be restricted to situations where clear
psychiatric indications exist. Two exceptions when psychotropic
drugs are sometimes used (under specialist supervision) are
when:
a psychiatric disorder is suspected but difcult to confrm
severe challenging behaviour fails to respond to maximal
nonpharmacological management.
It is essential to seek specialist opinion when the diagnosis is
unclear, or when response to treatment is poor.
Investigations before treating with psychotropic
drugs
Te three main purposes of performing investigations before
treating with psychotropic drugs are to:
screen for underlying medical causes of psychiatric symptoms
identify any underlying medical conditions that may mean
psychotropic drug management has to be adapted
provide a baseline for evaluating the physical efect of the
psychotropic drugs.
Investigations should be performed as for people without
developmental disability. Te choice of investigations should be
based on clinical judgment, incorporating knowledge of:
the patients medical status
common medical comorbidities associated with specifc
syndromes that cause developmental disability
the type of drug treatment that is proposed.
Some people with developmental disability may refuse blood
tests, and investigations may only be possible with sedation or
a general anaesthetic. Unless routine monitoring requirements
can be met, certain drugs cannot be prescribed. Tese include
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drugs with a narrow therapeutic window or potential for serious
adverse efects (eg lithium or clozapine).
Box 7. Key points when using psychotropic drugs in a
person with developmental disability
Principles of use
Before prescribing psychotropic drugs to a person with developmental
disability, thoroughly assess their mental and physical health
Only use psychotropic drugs as part of a comprehensive mental health
care plan that addresses broader psychosocial concerns and physical
comorbidities
Obtain consent before prescribing a psychotropic drug
Choosing drug and commencing therapy
Consider medical comorbidities when choosing a psychotropic drug (eg for a
person with obesity and type 2 diabetes, avoid drugs that stimulate appetite)
Have clear, predened and reliable methods to monitor treatment response
(eg daily chart of number of incidents of specied type)
Commence psychotropic drugs at a low dose, and increase the dose
gradually
During therapy
Engage support people in monitoring and reporting benets and adverse
effects of drug treatment (reports from support people become more
important if a person with intellectual disability cant communicate)
Remember that psychotropic drugs can have unwanted behavioural effects,
although this is uncommon
Schedule regular reviews of adherence to therapy, treatment progress,
adverse effects and need for continuing the drug
Withdraw a psychotropic drug if it:
is not effective
has intolerable adverse effects
is no longer required
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Precautions in prescribing psychotropic drugs
People with developmental disability may have a range of
comorbid conditions (eg physical disorders, congenital anom-
alies, neurodevelopmental brain abnormalities). Tese can
heighten sensitivity to drugs, making adverse efects (physical,
behavioural or cognitive) of psychotropic drugs more likely.
People with developmental disability can have impaired cognitive
and communication skills. Tis means they may not recognise
or report the adverse efects of drugs. Behavioural change can be
a manifestation of distress due to a psychotropic drugs adverse
efects. Sometimes it is a direct result of the drug. For example,
akathisia in response to antipsychotic drugs can be distressing
and cause pacing or apparent agitation. Sudden deterioration in
behaviour afer initiating a drug or increasing its dose should
prompt consideration of adverse efects. Paradoxical reactions to
benzodiazepines can also be confused with increased agitation.
Psychotropic drugs can have a negative efect on physical
disorders associated with developmental disability. For example:
some antipsychotic drugs (especially clozapine, olanzapine
and some frst-generation drugs) lower the seizure threshold
and increase the risk of seizures
sedation may:
increase the risk of respiratory failure in people with
Prader-Willi syndrome (because of hypotonia associated
with the condition) or in others who have airway
abnormalities
increase the risk of aspiration and swallowing problems in
some conditions (eg cerebral palsy)
some psychotropic drugs can make pre-existing gastro-
oesophagitis or constipation worse.
People with developmental disability may have increased
sensitivity to the cognitive efects of some drugs. Tis applies
especially to older adults with conditions (eg Down syndrome)
linked to increased risk of dementia.
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Withdrawing antipsychotic drugs
For general advice on discontinuing treatment with psychotropic
drugs and possible symptoms as a result, see eTGcomplete.
Sometimes in clinical practice it is necessary to withdraw
antipsychotic drugs, including some the person with
developmental disability may have been taking for years. Tis
situation may arise when:
the prescription lacks a clear indication
the condition resolves
complications develop (eg severe tardive dyskinesia, neuro-
leptic malignant syndrome).
Withdrawal from long-term antipsychotic therapy is more likely
to be difcult if the patient:
is taking high doses of the drug
has a high baseline of challenging behaviour.
Efects of withdrawal from antipsychotic drugs may include
temporary exacerbation of behavioural difculties or withdrawal
dyskinesias.
ANXIETY AND ASSOCIATED DISORDERS
Te general principles for managing anxiety and associated
disorders in people with developmental disability are similar to
those for the general population (see eTGcomplete). Key points
of specifc relevance to people with developmental disability
follow.
Before commencing treatment, triggers of anxiety should be
excluded:
For new onset or unexpected exacerbations of anxiety
symptoms, a thorough organic screen should be performed
to exclude medical causes. Tis is particularly important, as
people with developmental disability have a higher chance
of undiagnosed medical conditions.
A thorough evaluation of the environmental triggers across
a range of settings should be undertaken. People with
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developmental disability may have a complex system of care
and supports. Relatively minor stressors or trauma may
precipitate anxiety. Understanding the meaning a person
with developmental disability gives to their experiences is
important in establishing the link between the stressor and
psychiatric symptoms.
Nonpharmacological approaches are the mainstay of initial
management of anxiety symptoms in people with developmental
disability. Te emphasis is on support, psychoeducation and
commencing CBT.
In the long term, most mild anxiety disorders in people with
mild to moderate intellectual disability can be managed with
psychological treatments alone. CBT that has been specifcally
modifed to suit the persons abilities is the treatment of choice.
For people with moderate to severe forms of intellectual
disability and people with language impairments, interventions
are weighted towards their behaviour and environment.
Pharmacological treatments have an increasingly important role
in managing people:
with moderately severe anxiety disorders
who fail to respond to adequate trials of psychological
treatment
with complicated anxiety disorders (ie comorbid with mood
disorders or other psychiatric disorders).
Psychological therapies
When treating anxiety and associated disorders, psychological
therapies are important frst-line approaches. Te involvement
of a support person (possibly a family member) can be useful,
as it:
engages the support person in the therapeutic response to the
persons symptoms
allows the support person to promote continual reinforcement
of information provided in therapy sessions.
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Nonpharmacological strategies that can be implemented in the
primary care setting include:
basic psychoeducation about the cause and nature of anxiety
symptoms
basic anxiety management (eg breathing control and relax-
ation techniques).
Referral for specialised psychological treatment is advised when
the:
anxiety symptoms are entrenched
anxiety disorder is:
moderate in severity or worse
complicated by another psychiatric disorder.
Access to psychological therapies for people with develop-
mental disability is slowly improving. It is important to seek
referral to a service/therapist with experience in developmental
disability. In Australia, most specialised psychological services
are accessed through referral to state-based disability services or
private psychologists and psychiatrists. Interventions that may
be tried include:
CBT
applied behavioural analysis (to examine environmental
manipulations that may help reduce anxiety symptoms)
more comprehensive education of, and planning with, sup-
port people (so management is consistent across settings).
Pharmacological management
Detailed advice on pharmacotherapy for specifc anxiety
disorders is available in eTG complete. Te pharmacological
management of anxiety and associated disorders for people
with developmental disability should mirror that of the general
population. Isolated panic attacks and simple phobias should be
managed without drugs.
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Key points specifc to drug therapy for anxiety disorders in
people with developmental disability are:
When psychological therapies are the recommended
option, drug therapy should not be substituted.
When drug therapy is required, selective serotonin reuptake
inhibitors (SSRIs) are generally frst-line.
SSRIs should be commenced at a low dose and increased
more slowly than usual. People with developmental
disability have potential sensitivity to adverse efects and
higher rates of comorbid medical conditions.
Careful monitoring is advised, including detailed
questioning of the person and their support people (where
appropriate). People with developmental disability may
not be able to spontaneously communicate the presence of
adverse efects.
Points to note when considering using benzodiazepines for
anxiety disorders in people with developmental disability
include:
Occasionally benzodiazepines are associated with
a paradoxical increase in agitation, impulsivity or
disinhibition.
Benzodiazepines given prn are normally only used:
as part of a comprehensive strategy of anxiety
management
afer failure of nonpharmacological measures.
Use of benzodiazepines prn must be carefully regulated
by the person with developmental disability or by their
support people. Reviewing the persons records and
knowing the context when these drugs were given can help
optimise management.
Regular benzodiazepine use for anxiety disorders should be
limited to short-term treatment.
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MOOD DISORDERS
Management of mood disorders (ie depression, bipolar disorder
or mixed episodes) in people with developmental disability is
discussed below.
Depression
Te general management principles for depression for people
with developmental disability are similar to those for the general
population (see eTGcomplete). Points that are specifc for people
with developmental disability are discussed below.
Depression is under-recognised and undertreated in people
with developmental disability. Common management mistakes
include:
substitution of drug therapy when nonpharmacological
therapy is the recommended option
reluctance to treat depression with appropriate physical
therapies (drug therapy or electroconvulsive therapy [ECT])
when indicated.
A higher index of suspicion for an organic trigger is appropriate
for depression in people with developmental disability, given
their relatively poor health status. For new onset depression,
a thorough physical examination and organic screen should
be performed to exclude underlying medical triggers (eg
hypothyroidism, vitaminB
12
defciency).
Torough evaluation of the environmental triggers of depression
is necessary, as people with developmental disability experience
stress and loss frequently. Some triggers may not be immediately
obvious, but may have specifc meaning to the person with
developmental disability. For example, if a long-term housemate
moves to another group home, this may precipitate a depressed
mood. Te person may be vulnerable due to earlier experiences
of loss that have not been resolved.
A hierarchical approach is appropriate for treating depression
in people with developmental disability. A single mild episode
of depression (especially if it has an environmental trigger)
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should be treated with psychological therapy. Moderately
severe depression can be treated with psychological therapy
or pharmacotherapy. Te mainstays of management for severe
depression are pharmacotherapy or ECT.
With the exception of some specifc psychological services,
disability services generally can not provide mental health
support. If mental health support is required (based on the risk
of harm to self or others or the severity of depression), it should
be sought directly from mental health services.
Specialist psychiatric opinion is advised when:
the person:
has suicidal thoughts (ideation) or has attempted suicide
has psychotic symptoms
is at risk from self-neglect and inadequate oral intake
treatment triggers a manic episode
depression fails to respond to treatment.
Psychological therapies
Psychological therapies are important treatments for depression
in people with developmental disability, but are frequently
overlooked. Tey are most appropriate for people with milder
disabilities. However, they can ofen be appropriate for people
with moderate levels of disability who have relatively intact
communication skills. In the primary care setting, it is possible
to:
provide basic psychoeducation about the nature of depression
and factors contributing to mood changes
initiate CBT.
Te involvement of a support person (possibly a family member)
can be helpful, as it:
engages the support person in the therapeutic response to the
persons symptoms
allows the support person to promote continual reinforcement
of information provided in therapy sessions.
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As the level of developmental disability increases, a more
sophisticated approach to therapy is needed. Tis includes
using specifc communication aids. For people with moderate
to severe forms of intellectual disability and people with
language impairments, interventions are weighted towards
their behaviour and environment. Referral for specialised
psychological assistance is advisable. In Australia, most
specialised psychological services are accessed through referral
to state-based disability services or private psychologists and
psychiatrists. Components of therapy they may introduce
include:
tailored CBT, including specifc resources and communica-
tion aids
more detailed analysis of environmental triggers and factors
that may be maintaining the mood disorder
more comprehensive education and engagement of the
support person in the therapeutic role.
Te pharmacological management of depression in people
with developmental disability should mirror that of the general
population. Detailed advice on drug therapy for depression is
available in eTGcomplete.
SSRIs are among the frst-line drugs for treating depression.
However, the choice of drug should take into account:
the persons:
symptom profle
type of depression
past response
medical comorbidities
the drugs:
potential for interaction with concurrent medications
potential adverse efects.
People with developmental disability have potential sensitivity to
adverse efects and higher rates of comorbid medical conditions.
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Any drug therapy should be commenced at a low dose and
increased more slowly than in the general population.
People with developmental disability may not be able to
spontaneously communicate the presence of adverse efects.
Careful monitoring is advised, including detailed questioning of
the person and their support people (where appropriate).
Heightened vigilance for adverse behavioural efects of anti-
depressants should be maintained, especially in people whose
developmental disability is severe or profound. Behavioural
change (including increased aggression, self-injury or repetitive
behaviour) can be a:
manifestation of discomfort or distress associated with an
adverse efect of the drug
direct behavioural efect of the drug.
A manic switch is also a possible explanation for behavioural
change. In these situations, it is advisable to reduce the dose of
the antidepressant drug or cease it.
Electroconvulsive therapy
Tere are no controlled trials of ECT for mood disorders in
people with developmental disability. However, case reports
indicate ECT is efective and safe in this context. As discussed in
eTGcomplete, ECT should be considered in severely depressed
patients who have:
psychotic features
poor response to several antidepressant trials
compromised oral intake
depressive stupor
a previous preferential response to ECT.
Careful evaluation of medical status is advisable, given the
increased frequency of medical comorbidities in people with
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Bipolar disorder
Te approach to managing bipolar disorder in people with
developmental disability is the same as for the general population
(see eTGcomplete). Some specifc points are discussed below.
Acute mania
Te management of acute mania in people with develop-
mental disability follows that for the general population (see
eTGcomplete).
Disability group homes or private residences cannot provide
containment that is equivalent to inpatient psychiatric units.
Also, disability workers are not equipped to manage someone
with an acute manic episode.
As in the general population, people with developmental
disability who experience acute mania may need hospitalisation
for their protection. Involuntary hospitalisation under the
relevant legislation may be necessary.
Te inpatient setting has specifc challenges for a person with
developmental disability. Disability and health services should
work together to provide the supports the person needs during
their admission. Support people should fully brief mental health
staf about the persons needs (eg communication and disability
support, behavioural support). Some mental health facilities
allow support people or disability support workers to provide
direct assistance within the hospital setting.
If a pharmacological trigger for the manic episode can be
identifed (eg antidepressant or stimulant treatment, substance
abuse), this must be ceased.
If a medical disorder triggered the manic episode, this condition
should be assessed and managed urgently.
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Detailed dose recommendations for drug treatment of acute
mania are in eTGcomplete.
Drugs used to treat acute mania include lithium, an antiepileptic
(eg sodium valproate) or a second-generation antipsychotic. In
the short term, the patient may also be given a benzodiazepine
or an antipsychotic (if not already being used). Tis is to help
contain any associated behavioural disturbance.
Parenteral drugs are needed sometimes when oral administra-
tion is not feasible, and they should be given according to
existing guidelines. Parenteral administration can be a difcult
experience for the person with developmental disability, who
may have less understanding of what is happening. Clear
explanation at a level that matches their communication skills
is desirable.
Some drugs (eg lithium) used to treat acute mania usually need
their serum concentrations to be monitored. Monitoring can
be a problem for people with developmental disability who are
reluctant to undergo venepuncture.
Elderly people with developmental disability, and people with
signifcant medical comorbidities, may need more conservative
dosing strategies. Te aim is to minimise adverse efects and
risks.
During the acute manic phase, liquid or wafer versions of drugs
(if available) may be helpful.
If mania fails to respond to initial drug treatment, options
include:
optimising drug serum concentrations
switching to a diferent drug
combining drugs.
If several drug strategies have failed, ECT may be considered.
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Bipolar depression
Bipolar depression is managed in people with developmental
disability as for the general population (see eTGcomplete).
If the person is already on maintenance treatment for bipolar
disorder, options include:
optimising current treatment
adding a second drug (eg adding sodium valproate or
lamotrigine to lithium; adding olanzapine or quetiapine)
beginning short-term treatment with an antidepressant, as
long as a mood stabilising drug is concurrently prescribed.
SSRIs are less likely to precipitate mania in this context than
other antidepressant classes. An antidepressant should never
be used alone.
More complex combinations of drugs may be required when
bipolar depression fails to respond to frst-line treatments.
ECT is efective for bipolar depression that has not responded
to treatment or when depression is associated with psychotic
features.
Before giving antidepressant drugs, it should be considered
whether the person might have a mixed episode (ie a
combination of manic and depressed symptoms). Giving anti-
depressant drugs during a mixed episode makes symptoms
worse.
Mixed episodes and rapid cycling bipolar disorder
For advice on treating bipolar disorder presenting as mixed
episodes or rapid cycling bipolar disorder, see eTGcomplete.
Maintenance therapy
Similar principles apply to maintenance treatment of bipolar
disorder in people with developmental disability as in the general
population (see prophylactic treatment for bipolar disorder in
eTGcomplete). Maintenance treatments are initially determined
by what was successful when treating the acute manic episode.
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Te following principles are particularly relevant to people with
Education and supportive psychological strategies are important,
and should be tailored to the persons intellectual ability.
Strategies include:
enhancement of coping and social skills
assertiveness training
CBT
supported employment programs
enhancement of disability supports.
Support people should be engaged in a process of:
education and discussion of early warning signs of a relapse
preparation of an afrmative interagency (ie disability and
health) management plan that can be enacted if a relapse
occurs.
If the person was admitted as an inpatient in the acute phase,
continued cooperation between mental health and disability
services is essential in the initial maintenance phase.
In relation to the psychotropic drugs being used for maintenance:
the person with developmental disability and their support
people should be engaged in discussions about adverse efects
a strategy should be developed for encouraging and moni-
toring adherence to therapy.
Long-term maintenance therapy for bipolar disorder should be
considered if the person has had:
at least two episodes over 5years
three episodes in their life
severe mania associated with psychosis or suicidal thinking.
For people with frequent relapses, assertive case management
within a mental health team should be considered.
Teir general practitioner should regularly review the physical
and mental health of a person with developmental disability and
bipolar disorder.
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SCHIZOPHRENIA AND RELATED PSYCHOSES
Te management of schizophrenia and related psychoses in
people with developmental disability follows that for the general
population (see eTGcomplete).
Important additional points that apply to people with develop-
mental disability are:
Early intervention services should be available to people
with emerging or suspected psychotic symptoms.
People who develop schizophrenia and related psychoses
should be referred for multidisciplinary assessment by a
specialist mental health team.
People should be monitored regularly for other psychiatric
disorders (including depression and anxiety disorders) that
are commonly comorbid with schizophrenia.
A full range of services (including social, group and
physical activities) should be accessible through the
disability or health systems.
Support people should be actively engaged in partnership
with the treating team.
Acute psychotic episode
All people with developmental disability who experience
psychotic symptoms for the frst time should be referred urgently
to a specialist mental health service.
Choice of setting for acute treatment of a person with develop-
mental disability and psychosis depends on their:
symptom profle
assessment of risk of harm to self or others
degree of behavioural disturbance
level of insight
available mental health services
available community supports.
People with developmental disability who experience acute
psychotic symptoms may require hospitalisation (sometimes
involuntary) for their protection during initial treatment.
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Disability group homes or private residences should not be
expected to provide containment for a person with behavioural
disturbance due to acute psychosis.
Te inpatient setting has specifc challenges for a person with
developmental disability. Disability and health services should
work together to provide the supports the person needs during
their admission. Support people should fully brief mental health
staf about the persons needs (eg communication and disability
support, behavioural support).
Te person with developmental disability should be thoroughly
assessed to exclude an organic precipitant (including a medical
condition) for their psychosis.
Te evidence base for the efectiveness of drug treatment in
schizophrenia in people with developmental disability is limited.
However, drug recommendations for the general population
are appropriate for people with developmental disability (see
eTGcomplete). Some specifc factors that need to be considered
in this population are discussed below.
Due to sensitivity to adverse efects, the preferred therapy for
acute psychosis is second-generation antipsychotic drugs.
Te choice of drug is more complicated for a person with
developmental disability, and needs to consider:
their symptom profle
the drugs adverse efect profle
the preference of the person and their support people
previous response to drug treatment
comorbid medical conditions.
Other factors related to drug therapy for people with
developmental disability include to:
avoid depot medication when possible, because of this
populations increased risk of adverse efects (including
tardive dyskinesia)
perform baseline investigations, including those appropriate
to the particular drug.
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Additional short-term therapy with benzodiazepines may be
needed for agitation associated with acute psychosis.
Oral drugs are frst choice. However, parenteral drugs are needed
sometimes when oral administration is not feasible, and should
follow existing guidelines. Tis can be a difcult experience
for the person with intellectual disability, who may have less
understanding of what is happening. Clear explanation at a level
that matches their communication skills is desirable.
Maintenance therapy
Long-term health risks are associated with treatments for
psychosis. Tese should be actively managed by the primary
health care provider, in partnership with the specialist mental
health team. A metabolic/cardiovascular risk assessment should
be performed at least once a year. Tardive dyskinesia is more
common in people with developmental disability. Screening for
tardive dyskinesia should occur every 6to 12months.
Maintenance drug dosing is individualised to the minimum
dose needed to contain psychotic symptoms.
Referral back to specialist mental health services should be
considered for people with developmental disability when they:
have partial response to treatment
dont adhere to drug treatment
develop adverse efects to drug treatment
develop symptoms of another psychiatric disorder
cause concern about harm to self or others.
Apparent resistance to treatment should prompt:
reconsideration of diagnosis
examination of treatment adherence and adequacy
consideration of substance misuse or other factors that may
provoke symptoms.
A trial of clozapine should be considered in people who have
failed to respond adequately to at least two antipsychotic drugs.
Any decision to trial clozapine should take into account any
relevant medical comorbidities associated with developmental
disability (eg seizures, diabetes).
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Antonacci DJ, Attiah N. Diagnosis and treatment of mood disorders in adults with
developmental disabilities. Psychiatr Q 2008;79(3):171-92.
Beail N. Psychoanalytic psychotherapy with men with intellectual disabilities: A preliminary
outcome study. Br J Med Psychol 1998;71(1):1-11.
Beail N, Warden S, Morsley K, Newman D. Naturalistic evaluation of the effectiveness of
psychodynamic psychotherapy with adults with intellectual disabilities. J App Res Intellect
Dis 2005;18(3):245-51.
Brown M, Duff H, Karatzias T, Horsburgh D. A review of the literature relating to psychological
interventions and people with intellectual disabilities: issues for research, policy, education
and clinical practice. J Intellect Disabil 2011;15(1):31-45.
Deb S, Kwok H, Bertelli M, Salvador-Carulla L, Bradley E, Torr J, et al. International guide to
prescribing psychotropic medication for the management of problem behaviours in adults
with intellectual disabilities. World Psychiatry 2009;8(3):181-6.
Frighi V, Stephenson MT, Morovat A, Jolley IE, Trivella M, Dudley CA, et al. Safety of
antipsychotics in people with intellectual disability. Br J Psychiatry 2011;199(4):289-95.
Hassiotis A, Serfaty M, Azam K, Strydom A, Martin S, Parkes C, et al. Cognitive behaviour
therapy (CBT) for anxiety and depression in adults with mild intellectual disabilities (ID): a
pilot randomised controlled trial. Trials 2011;12:95.
Hassler F, Reis O. Pharmacotherapy of disruptive behavior in mentally retarded subjects: a
review of the current literature. Dev Disabil Res Rev 2010;16(3):265-72.
Heyvaert M, Maes B, Onghena P. A meta-analysis of intervention effects on challenging
behaviour among persons with intellectual disabilities. J Intellect Disabil Res 2010;
54(7):634-49.
Lew M, Matta C, Tripp-Tebo C, Watts D. Dialectical behavior therapy (DBT) for individuals
with intellectual disabilities: a program description. Ment Health Asp Dev Disabil 2006;
9(1):1-12.
Matson JL, Gonzalez ML, Smith KR, Terlonge C, Thorson RT, Dixon DR. Assessing side
effects of pharmacotherapy treatment of bipolar disorder: a 20-year review of the literature.
Res Dev Disabil 2006;27(5):467-500.
Sakdalan JA, Shaw J, Collier V. Staying in the here-and-now: a pilot study on the use
of dialectical behaviour therapy group skills training for forensic clients with intellectual
disability. J Intellect Disabil Res 2010;54(6):568-72.
Stoddart KP, Burke L, Temple V. Outcome evaluation of bereavement groups for adults with
intellectual disabilities. J Appl Res Intellect Dis 2002;15(1):28-35.
Tsiouris JA. Pharmacotherapy for aggressive behaviours in persons with intellectual
disabilities: treatment or mistreatment? J Intellect Disabil Res 2010;54(1):1-16.
United Nations Enable. Convention on the rights of persons with disabilities. New York, NY:
UN Secretariat for the Convention on the Rights of Persons with Disabilities; 2006.
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Epilepsy and seizures 210
Epilepsy and seizures
Epilepsy is much more frequent in people with intellectual
disability (18%to 35%) than in the general population (approx-
imately 1%)it is ofen more severe and more difcult to control.
Diagnosing and managing epilepsy in the presence of intel-
lectual disability is challenging. However the basic principles
are the same for all people, and are explained in eTGcomplete.
Tis chapter describes aspects that are specifc to people with an
intellectual disability.
For many people with intellectual disability and epilepsy, the
cause of their conditions is unknown. However, epilepsy is more
common in many syndromes, including Angelman, Down and
fragileX syndromes, and in tuberous sclerosis. Epilepsy is also
common in cerebral palsy.
DIAGNOSIS
Diagnosis of epilepsy is based on clinical information, and
relies signifcantly on description of the seizures. It is supported
by special investigations such as electroencephalography or
neuroimaging. Identifying the seizure type, and (where possible)
the specifc epilepsy syndrome, is important for choosing the
right drug for treatment.

People with intellectual disability
may have any seizure type, and many have more than one.
For classifcation of seizure types and epileptic syndromes, see
eTGcomplete.
Tere is a strong link between the severity of intellectual
disability and the frequency and intensity of seizures.
In people with intellectual disability, accurate diagnosis of
epilepsy may be particularly difcult for several reasons:
fragmented and unreliable information (due to communi-
cation problems) that hinders an accurate history
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problem behaviours that cloud the clinical picture
poorly tolerated investigative procedures
diminished capacity to consent and make informed choice
about investigation and treatment.
History taking
People with intellectual disability may have communication
difculties. When taking a history, it is important to gather
information from several sources, including people who know
the person well (eg parents, key support workers). See further
advice on taking a history.
Te history of a person with intellectual disability and suspected
epilepsy should include:
description of seizures, including frequency and duration
relevant environmental circumstances (eg a recent change
of home)these help diferentiate between seizures and
behavioural disorders
antecedents to seizures (eg infection, dehydration, consti-
pation, sleep deprivation)
patterns of the seizures
change in intensity and frequency over time.
Differential diagnosis
Sometimes it may not be clear if certain actions (eg episodic
behaviour disturbance, falls, prolonged staring, periodic
unresponsiveness) are actually due to epilepsy. Tey might be
due to other factors, including problem behaviours, psychiatric
disorders, muscle spasms, paroxysmal movement disorders,
syncope, sleep disorders and migraine. Problem behaviours are
ofen particularly difcult to exclude as a cause. Nonepileptic
attack disorder can occur in people with an intellectual disability,
as in the general population. People with nonepileptic seizures
and an intellectual disability have coexistent epilepsy more
frequently than the general population.
Sometimes the history may not clearly indicate whether the event
is behaviour- or seizure-related. A video of the suspected seizures
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is essential. Video-telemetry (combined electroencephalogram
[EEG] and video monitoring) may also be helpful.
Physical causes (eg cardiovascular disease) of the seizures need
to be excluded. Afer this, the person with intellectual disability
should be referred to a specialist for formal diagnosis of epilepsy.
If the persons seizures suddenly change, their general practi-
tioner should get a description of the seizures again. Tis is to
exclude new pathology.
Investigations
Te diagnosis of epilepsy is a clinical one, based mainly on
clinical descriptions and history. Additional investigations (eg
EEGs, neuroimaging) may help defne the syndrome.
Electroencephalogram
An EEG is a noninvasive procedure, but may be frightening to
some people with intellectual disability. However, most tolerate
an EEG and it is important to refer them for this procedure. It may
be difcult to perform an EEG in a person with cerebral palsy or
autism spectrum disorder. Desensitisation (eg repeated visits to
the EEG suite and a gradual introduction to the technician and
equipment) may help reduce any fear.
Neuroimaging
Structural neuroimaging (computerised tomography [CT]
and magnetic resonance imaging [MRI]) is important for
determining the cause (eg abnormality of cortical development)
and site of origin of the seizures. It is particularly relevant when
establishing potential candidates for neurosurgery. Te person
may need sedation or anaesthesia. CT can be used to identify
gross pathology if MRI is unavailable or contraindicated, or
when sedation is required.
Single photon emission computed tomography (SPECT) and
positron emission tomography (PET) are used mainly to localise
seizures in some surgical cases.
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Syndromal diagnosis
Syndromal diagnosis is central to epilepsy treatment. All
the epilepsy syndromes are found in people with intellectual
disability. However, certain severe syndromes (although rare)
are overrepresented, because they are ofen associated with
cognitive delay and are refractory. Specifc treatment is available
for two important syndromes (Lennox Gastaut and Dravet).
Tis means it is worth identifying possible patients and referring
them for specialist review. If a patient has any of the features
in Box 8, consider referral for assessment of Lennox Gastaut
syndrome.
Box 8. Indicators of Lennox Gastaut syndrome
Consider referral for assessment of Lennox Gastaut syndrome if a patient
has:
a rst seizure at age less than 7 years
an EEG with slow spike and wave
a history of West syndrome (infantile spasms)
seizures of the following types:
atonic
atypical absence
myoclonic
tonic
MANAGEMENT
Managing epilepsy in people with intellectual disability involves
general, nonpharmacological and pharmacological measures.
General and nonpharmacological measures
General measures for managing epilepsy in people with
intellectual disability include paying attention to lifestyle and
personal safety (see eTGcomplete).
Managing risk is important in this challenging population.
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All patients and carers should have:
a clear understanding of the risk of sudden unexpected death
in epilepsy (SUDEP)
a clear understanding of the risk of drowning (especially
from bathing unsupervised)
an emergency plan for seizures.
Nonpharmacological interventions include surgery and special-
ised diets. In people with intellectual disability, a Cochrane
review
*
found no evidence that psychological intervention (for
carers as well), yoga, acupuncture or relaxation therapy were
helpful.
Antiepileptic drug therapy
Antiepileptic drugs are the mainstay of treatment for people
with epilepsy, including those with an associated intellectual
disability. People with intellectual disability ofen have higher
seizure frequency and greater seizure-related pathology,
including SUDEP. Tis means a vigorous evidence-based
approach to treatment is essential.
In adults with intellectual disability there is strong evidence that
antiepileptic drugs signifcantly reduce the frequency of seizures
and increase freedom from seizures. Evidence for a signifcant
negative efect on behaviour is rare in studies that explored it.
Te principles of use of antiepileptic drugs are discussed in
eTGcomplete.
A routine clinical review should be scheduled every 3 months
for people using an antiepileptic drug.
*
Beavis J, Kerr M, Marson AG, Dojcinov I. Non-pharmacological interventions for epilepsy
in people with intellectual disabilities. Cochrane Database Syst Rev 2007;(4):CD005502.
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Indications
Drug therapy is generally recommended afer the second
epileptic seizure. Antiepileptic drugs should be considered afer
the frst seizure in the following situations that are ofen found
in people with intellectual disability. Tese include:
neurological defcit
EEG with unequivocal epileptic activity
risk of further seizure unacceptable to the person or their
family
brain imaging with structural abnormality.
Te decision to treat a person needs to be based on careful
analysis of:
the efect seizures are likely to have on their health and quality
of life
the probability of adverse efects from the antiepileptic drugs
informed patient choice.
Other factors to consider in deciding to treat epilepsy:
SUDEP is poorly understood, but is signifcantly frequent
in this population. Extreme diligence in controlling seizures
is warranted.
People with intellectual disability and epilepsy have
increased mortality. Tis is due to a concurrent increase in
comorbidities, and to epilepsy-related mortality (including
SUDEP, drowning and status epilepticus).
Structural cerebral lesions are associated with a greater risk
of recurrent seizures.
A small number of people have infrequent partial seizures with
little efect on their quality of life. For them, the adverse efects
of treatment may outweigh the potential benefts.
Any consideration that a person is less in need of treatment should
only be in the setting of a best interest meeting. Tis is a meeting
of professionals, carers and advocates. Points to consider when
assessing seizure risk are the incidence of SUDEP, injury and
hospitalisation. A decision not to treat seizures would be rare. Due
to its complexity, consultation with a specialist is recommended.
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Drug choice
Factors to consider when choosing an antiepileptic drug (see
also eTGcomplete) include:
efcacydiferent seizure types or epilepsy syndromes
require specifc drugs (some people have multiple or complex
types of seizures, making choice of drug difcult)
cost-efectivenesstreatment is usually long term, so cost
may be a concern
genderif a woman wants to give birth, the teratogenicity of
some antiepileptic drugs needs to be considered
adverse efects
drug interactionsmany people with intellectual disability
are taking more than one drug, so there is a greater chance
of interactions
ease of usefactors to consider are the drug formulation,
route of administration, frequency of administration and
need for monitoring plasma concentration

(the person with
intellectual disability may not tolerate blood tests).
A Cochrane review
*
looked at studies of the efcacy of anti-
epileptic drugs in people with intellectual disability. Outcome
indicators were seizures and adverse efects, as for the general
epilepsy population. Adverse efects were not assessed
consistently across these studies. In this population there are
no randomised controlled trials (RCTs) of signifcant new
antiepileptic drugs (eg lacosamide, levetiracetam, pregabalin,
tiagabine, zonisamide). Lack of RCT evidence does not preclude
using these drugs.
Specic syndromes
Specifc syndromes associated with intellectual disability (eg
Lennox Gastaut syndrome) need tailored treatment regimens.
Specialised assessment is recommended. See also eTGcomplete.
*
Beavis J, Kerr M, Marson AG, Dojcinov I. Pharmacological interventions for epilepsy in
people with intellectual disabilities. Cochrane Database Syst Rev 2007;(3):CD005399.
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Adverse effects
Adverse efects from antiepileptic drugs are common. A
Cochrane review
*
showed that people with intellectual disability
sufer the same range of adverse efects as the general population,
particularly for objective efects such as weight loss. However,
communicating subjective adverse efects may be difcult.
Clinicians should be aware that behaviour change may simply be
a response to headache, pain or other adverse efects of a drug.
Antiepileptic drugs should be monitored regularly or when
toxicity is suspected. Most antiepileptic drugs should be
monitored clinically rather than biochemically, with a careful
history and examination. However, phenytoin dosage should
be monitored by measuring its plasma concentration. It has
nonlinear pharmacokinetics and can reach toxic concentrations
with small increases in dose. Te plasma concentration of
phenobarbitone and carbamazepine should be monitored every
2 years in people who cant communicate adverse efects. For
additional advice, see eTGcomplete.
Adverse efects that might prompt dose reduction are problems
with muscle co-ordination (ataxia) or speech (dysarthria),
drowsiness, decline in cognition, and agitation and other
disturbed behaviours.
Some antiepileptic drugs have adverse efects that are particularly
relevant to people with intellectual disability. Phenytoin causes
gum hypertrophy in approximately 30% of people. People with
intellectual disability ofen have poor oral health, so this may be
missed. Vigabatrin and clonazepam may stimulate aggression.
Topiramate can cause severe weight loss. Tis is a concern when
a person is already underweight before starting this drug.
Assessment of vitamin D status should be considered for patients
on long-term antiepileptic drug therapy. Tis is especially so for
people taking enzyme-inducing drugs or with risk factors for
osteoporosis.
*
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Cognition
In some cases antiepileptic drugs can alter cognition in their
own right. Assessing this is complex in a person with intellectual
disability. An apparent cognitive efect of an antiepileptic drug is
more likely to be a result of:
the persons underlying condition
poor seizure control.
However, any antiepileptic drug in excessive doses can cause
confusion. Early studies of phenobarbitone in children showed
it caused cognitive slowing. Te cognitive efects of the newer
antiepileptic drugs in people with intellectual disability are less
clear. Tey cannot necessarily be extrapolated from studies
in people without cognitive impairment. In people without
intellectual disability, topiramate has been shown to have an
adverse efect on cognitive function. By contrast, lamotrigine (at
least in the short term) appeared to have few adverse efects and
might activate cognition. Te efect on cognition of other newer
antiepileptic drugs is uncertain.
For all antiepileptic drugs, a high index of suspicion that they
are afecting cognition is warranted. A decision to change drug
is complex, and the factors discussed in drug choice should be
considered frst. If the person has good seizure control, specialist
advice should be sought before any change of drug. Drug change
can lead to a return of the seizures.
Ceasing therapy
Most people with epilepsy report an improved quality of life
when their seizures are controlled by antiepileptic drugs. Many
prefer to keep taking these drugs indefnitely. Any trial of
withdrawing therapy should not begin until it is at least 2years
since their last seizure. For information, see eTGcomplete.
People with intellectual disability usually have some brain
pathology underlying their epilepsy. Withdrawing their
antiepileptic drugs is ofen less successful than in the rest of the
population. People with a structural cerebral lesion are less likely
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to remain seizure-free afer ceasing their antiepileptic drugs.
It is also harder to know if their seizures are being controlled,
because of difculty obtaining an accurate history.
STATUS EPILEPTICUS
Status epilepticus refers to continuous seizure activity, or to
repeated seizures without full recovery of consciousness between
attacks. Convulsive status epilepticus is a medical emergency.
For treatment, see eTGcomplete.
Working group of the International Association of the Scientic Study of Intellectual
Disability. Clinical guidelines for the management of epilepsy in adults with an intellectual
disability. Seizure 2001;10(6):401-9.
Beavis J, Kerr M, Marson AG, Dojcinov I. Non-pharmacological interventions for epilepsy
in people with intellectual disabilities. Cochrane Database Syst Rev 2007;(4):CD005502.
Bowley C, Kerr M. Epilepsy and intellectual disability. J Intellect Disabil Res 2000;44 (Pt
5):529-43.
Chapman M, Iddon P, Atkinson K, Brodie C, Mitchell D, Parvin G, et al. The misdiagnosis
of epilepsy in people with intellectual disabilities: a systematic review. Seizure 2011;
20(2):101-6.
Emerson E, Kiernan C, Alborz A, Reeves D, Mason H, Swarbrick R, et al. The prevalence
of challenging behaviors: a total population study. Res Dev Disabil 2001;22(1):77-93.
Kerr M, Scheepers M, Arvio M, Beavis J, Brandt C, Brown S, et al. Consensus guidelines
into the management of epilepsy in adults with an intellectual disability. J Intellect Disabil
Res 2009;53(8):687-94.
Kerr MP. Behavioral assessment in mentally retarded and developmentally disabled
patients with epilepsy. Epilepsy Behav 2002;3(6S1):14-7.
Morgan CL, Baxter H, Kerr MP. Prevalence of epilepsy and associated health service
utilization and mortality among patients with intellectual disability. Am J Ment Retard
2003;108(5):293-300.
National Institute for Clinical Excellence. The epilepsies: the diagnosis and management
of the epilepsies in adults and children in primary and secondary care [clinical guidance
137]. London: NICE; 2012.
Shorvon S. Risk factors for sudden unexpected death in epilepsy. Epilepsia 1997;38(11
Suppl):S20-2.
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Nutritional disorders 220
Nutritional disorders
Nutritional problems are common in people with developmental
disability. Obesity is more common in women with
developmental disability than in the general population. Being
underweight is more common in both men and women with
developmental disability. It is usually associated with dysphagia
and more severe physical limitations (eg spastic quadriparesis).
By contrast, overweight and obesity are usually seen in people
with greater mobility and functional independence. As in the
general population, these conditions have signifcant health
consequencesthey should not be accepted as inherent to the
persons disability. People with developmental disability may also
be at increased risk of specifc vitamin and mineral defciencies
(eg vitaminD, iron).
No one set of dietary guidelines applies to all people with
developmental disability, because they have varying nutritional
needs. Guidelines for the general population can be used as an
initial reference. People with developmental disability ofen
have altered energy needs, due to reduced mobility or low levels
of physical activity. Tis should be considered when advising on
dietary intake.
Nutritional problems in people with developmental disability can
be complex. Successful management needs a multidisciplinary
approach and close involvement of family members and other
support people. Te general practitioner (GP) has an important
role in co-ordinating medical assessment and management. Part
of this role may be to refer the person to other clinicians (eg
gastroenterologist, speech pathologist, dietitian) for advice.
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WEIGHT STATUS
A weight for height chart is useful for assessing the healthy
weight of adults aged 18to 64years
*
. People need to be able to
stand upright without shoes for accurate height measurement.
Other common measures for classifying weight are body mass
index (BMI) and waist circumference (see eTGcomplete).
When assessing nutritional status, additional information (eg
dietary intake, biochemistry, clinical assessment) needs to be
considered.
UNDERWEIGHT
Avoiding the consequences of being underweight is important
for all people. In people with developmental disability, these
adverse consequences may be exacerbated by additional factors
(eg physical disability, pre-existing chronic health conditions).
Overview
Te prevalence of being underweight is higher in people with
developmental disability than in the general population. Rates
vary, according to the population studied and the defnition of
being underweight that is used. Te World Health Organization
defnes being underweight as a BMI less than 18.5 kg/m
2
. A
population based study in the UK used a defnition of a BMI
less than 20 kg/m
2
. Tis study found that 18.6% of adults with
intellectual disability were underweight, signifcantly more than
in the general population.
Te prevalence is higher in people

with severe disability in institutional care. For example, one
study found that 63% of people with profound multiple dis-
ability who lived in an institution were underweight.
*
A weight for height chart is available in attachment 1 (Nutrition and swallowing risk
checklist) to the nutrition and swallowing policy of the New South Wales Department of
Family and Community Services Ageing, Disability and Home Care.

Bhaumik S, Watson JM, Thorp CF, Tyrer F, McGrother CW. Body mass index in adults
with intellectual disability: distribution, associations and service implications: a
population-based prevalence study. J Intellect Disabil Res 2008;52(Pt 4):287-98.

Beange H, Gale L, Stewart L. Project renourish: a dietary intervention to improve
nutritional status in people with multiple disabilities. Aust NZ J Dev Disabil 1995;20(3):
165-74.
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Being underweight is the manifestation of short-term or long-
term undernutrition. If a person with developmental disability
is chronically underweight, this may be mistakenly ascribed to
their disability. While it is common for a person with severe
disability to be underweight, it is not necessarily normal,
and warrants assessment. Being underweight may be due to
dysphagia with reduced food intake. Also, psychiatric conditions
(eg depression) or behavioural disorders may cause reduced or
inconsistent appetite.
Investigate any person who is chronically underweight.
Failure to meet growth expectations (failure to thrive) may
occur in children with developmental disability. A child with a
provisional diagnosis of failure to thrive should be referred to a
paediatrician. Tey may need further investigation by specialist
services, particularly paediatric dysphagia assessment services.
Consequences
Being chronically underweight should not be ignored in any
person, because it has major implications for their health.
Consequences of being underweight may include:
compromised immunity, with increased susceptibility to
infections
reduced respiratory muscle function
decreased energy, so less participation in education, work
and social activities
impaired learning (in children)
reduced quality of life.
Dysphagia has additional consequences.
Assessment
A multidisciplinary approach is ofen needed to assess a person
with developmental disability suspected of being underweight.
Te frst step is to establish the persons weight and height, and
then calculate their BMI. Te height of some people cannot
be measured accurately, so their BMI cannot be calculated.
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However, a marked decrease in subcutaneous fat indicates the
person is signifcantly underweight. Serial weight measure-
ments can be an important tool when assessing underweight
and weight loss, as well as monitoring efcacy of therapy. Other
measures include waist circumference or skinfold thickness.
It is also important for the persons GP to:
look for the cause of underweight (eg dysphagia, malab-
sorption, depression, malignancy)
check for associated clinical problems or complications (eg
aspiration, dehydration, gastro-oesophageal refux disease,
constipation, anaemia, specifc micronutrient defciencies,
acute or chronic infection due to reduced immunity).
Te next step is referral to a:
dietitian, to assess the persons kilojoule intake and nutri-
tional status
speech pathologist (if the person is suspected to have
dysphagia) to:
assess their ability to swallow, eat and drink
advise whether additional investigations are needed
physiotherapist and an occupational therapist, to assess and
manage the persons seating (eg positioning, support), eating
techniques, equipment and need for assistance.
As part of the assessment, the concerns and priorities of many
people need to be consideredthe person with developmental
disability, family members, other support people and allied
health professionals.
Management
If no clinical reason for being underweight is found, it can
be assumed that the person with developmental disability is
malnourished. Malnutrition can be insidious in onset and long
term in nature. It may appear resistant to obvious remedies
such as ofering more food. Sometimes family members or
other support people feel that nothing can be done. However,
malnutrition is usually reversible with careful attention to what
and how the person eats and drinks.
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Strategies
As for assessment, management needs a multidisciplinary
approach. Te same health professionals may be involved, such
as a:
dietitian, to prepare a nutrition care plan for renourishment
that may include:
calorie supplementation (commercial products may be
used, but common foods [eg milk] are ofen the basis of
supplementation)
modifed food textures
vitamin and mineral supplements
speech pathologist, to provide advice to the person with
disability and the person helping them at mealtimes
(especially if the person with disability has dysphagia) on:
eating and drinking techniques and strategies
correct positioning
food and fuid textures
occupational therapist or seating specialist, for:
advice on functional skills in eating and drinking
advice on the type and level of assistance required
seating modifcation
advice about seating systems, to improve the persons
positioning and increase their safety and comfort during
mealtimes.
If the person has associated conditions or complications, it may
be necessary to consult a:
gastroenterologist (eg to treat gastro-oesophageal refux
disease, constipation)
respiratory physician (eg to treat respiratory infections).
People who are severely underweight and malnourished ofen
have compromised immunity. Many also have dysphagia and
aspiration. Combined with reduced mobility, this increases their
risk of infection. It is important to ensure their immunisations
are up to date, including infuenza and pneumococcal vaccines
if indicated (see Te Australian Immunisation Handbook).
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Te persons nutritional status should be monitored and re-
viewed regularly. Te management plan can be modifed as
needed. All stakeholders must be involved in the management
plan to ensure its success.
Enteral nutrition
If initial management is unsuccessful, and the poor nutritional
status of the person with developmental disability continues,
enteral tube feeding should be considered (see eTG complete).
Any decision to commence this should involve the person, their
family and other support people, and relevant specialists (eg
dietitian, speech pathologist, gastroenterologist). A decision-
making framework may be helpful so the clinical assessments,
options for management and views of all these people are
considered. Tis may be particularly useful when people have
conficting views (see Box 9).
OVERWEIGHT AND OBESITY
Overweight and obesity are generally more common in people
with developmental disability than in the general population.
Te prevalence cited in the literature varies widely, according to
the population studied. However, most studies agree that rates of
obesity (and overweight, to some extent) are signifcantly higher
in women with intellectual disability. Some studies also show
higher rates of obesity in men with intellectual disability.
Most studies show that the people with developmental disability
most at risk of overweight and obesity are:
women
people living in community settings (eg independently, with
families, in disability group homes)
people with less severe levels of disability
people with Down syndrome.
Insufcient physical activity is a major factor in overweight and
obesity. People with developmental disability have higher rates
of physical inactivity and lower cardiovascular ftness than the
general population.
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Overweight and obesity are not inevitable in people with
developmental disability. Tey are usually the result of excessive
consumption of energy dense foods and low levels of physical
activity. Terefore overweight and obesity are amenable to the
usual strategies for prevention or treatment. Tis is also true in
people who have a biological basis to their obesity (eg Prader-
Willi syndrome).
Te guidelines for preventing, assessing and managing over-
weight and obesity in adults and children with developmental
disability are the same as for others in the community. Some
modifcations are needed to cater for their cognitive and/or
physical impairments. If a persons accurate height cannot be
determined, other measures (eg waist circumference, skinfold
thickness) can be used. Te persons level of physical activity
(including incidental activity) needs to be estimated. Steps
should be taken to overcome any barriers to participation in
physical activity.
People with developmental disability are as susceptible to
the complications of overweight and obesity as others in the
population. For detailed discussion of overweight and obesity,
see eTGcomplete.
Managing healthy eating and weight in people
Te goals of the person with developmental disability must be
considered when promoting healthy eating and a healthy weight.
Several factors specifc to this population can be challenging.
Tese include:
inadequate knowledge of nutrition in some support people
who provide the persons food
unhealthy or restricted food choices being made by some
people with developmental disability who access food
independently
inconsistent intervention across diferent support settings
physical disability (this may restrict the persons level of
physical activity)
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commonly used drugs that induce weight gain (eg some
psychotropic drugs, antiepileptic drugs).
Attitudes of family and other support people
Most people with developmental disability rely on family
members or other support people for their access to food
or physical activitythese people may have inadequate
understanding of healthy nutrition and the persons nutritional
needs. For example, they may:
not see the persons overweight and obesity as a problem
use food to:
encourage appropriate behaviour
minimise unwanted behaviour
provide comfort
provide a diversion
allow the person unlimited access to food
not realise they need to limit portion sizes if the person has
low levels of physical activity.
Food choices
When the person with developmental disability lives in a
community setting, the food preferences and nutritional require-
ments of fellow residents may infuence the types of food given.
Some people with developmental disability are more physically
mobile and independent. Tey can access food independently
(inside and outside the home), but their food choices may not
always be healthy. If the person also has intellectual disability,
their cognitive limitations may make it more difcult to
implement educational and behavioural changes.
Inconsistent intervention
Te promotion of healthy eating and exercise for a person with
developmental disability may be difcult for their support
workers and family members. Ofen the intervention needs to
be applied consistently in many settings (eg disability group
home, family home, day program, respite care, social activities)
to be successful.
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When the person lives in a disability group home:
diferent shifs and high turnover of residential staf can lead
to inconsistent and sometimes ad hoc decisions about food
shopping and meals
if stafng levels are inadequate or inconsistent, this may
reduce the support available for the person to take part in
physical activity.
Helpful strategies
Te following strategies can promote weight management in a
person with developmental disability:
Include family members and key support people when
devising management plans.
Get advice from a dietitian on:
the persons diet
food shopping lists and meal plans for the entire
household.
Ensure a consistent eating plan is implemented in all
settings (eg disability group home, day program).
Where appropriate, consider referring the person for
behaviour support to help monitor and change eating
behaviours.
Encourage group-based physical activities, so everyone in
the household can participate.
Where possible, consider alternative drugs that are less
likely to cause weight gain.
VITAMIN AND MINERAL DEFICIENCIES
Folate, iron and micronutrient defciencies may occur in people
with undernutrition (eg from dysphagia). It is important to
test for these defciencies and correct them if necessary. People
with gastro-oesophageal refux disease with oesophagitis are
especially at risk of iron defciency due to blood loss. VitaminD
defciency is prevalent in people with developmental disability,
due to a combination of factors (eg limited sun exposure, use
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of some antiepileptic drugs that interfere with vitamin D me-
tabolism). People at risk of defciency should have their serum
25-hydroxy vitamin D concentration measured and be given
vitaminD supplements if indicated.
Vitamin and mineral defciencies and their treatment (including
information on vitamin D and calcium supplements) are dis-
cussed in eTGcomplete.
Beange H, Gale L, Stewart L. Project renourish: a dietary intervention to improve nutritional
status in people with multiple disabilities. Aust NZ J Dev Disabil 1995;20(3):165-74.
Bhaumik S, Watson JM, Thorp CF, Tyrer F, McGrother CW. Body mass index in adults
with intellectual disability: distribution, associations and service implications: a population-
based prevalence study. J Intellect Disabil Res 2008;52(Pt 4):287-98.
Emerson E. Underweight, obesity and exercise among adults with intellectual disabilities
in supported accommodation in Northern England. J Intellect Disabil Res 2005;49(Pt
2):134-43.
Hove O. Weight survey on adult persons with mental retardation living in the community.
Res Dev Disabil 2004;25(1):9-17.
National Health and Medical Research Council. Dietary guidelines for Australian adults.
Canberra: Commonwealth of Australia; 2003.
NSW Family and Community Services Ageing Disability and Home Care. Health care policy
and procedures: attachment 08. Physical activity chart [checklist]. Sydney: NSW ADHC;
2010.
NSW Family and Community Services Ageing Disability and Home Care. Nutrition resouces
[various]. Sydney: NSW ADHC.
Robertson J, Emerson E, Gregory N, Hatton C, Turner S, Kessissoglou S, et al. Lifestyle
related risk factors for poor health in residential settings for people with intellectual
disabilities. Res Dev Disabil 2000;21(6):469-86.
Temple VA, Walkley JW. Physical activity of adults with intellectual disability. J Intellect Dev
Disabil 2003;28(4):342-53.
Vanlint S, Nugent M, Durvasula S. Vitamin D and people with intellectual disability. Aust
Fam Physician 2008;37(5):348-51.
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Dysphagia 230
Dysphagia
Dysphagia (difculty swallowing) is common in people with
developmental disability. It has been estimated that its prevalence
in adults with multiple disabilities is as high as 76%. People
with severe physical disability secondary to cerebral palsy are
much more likely to have difculty swallowing and, possibly,
malnutrition. Infants diagnosed with, or at risk of, cerebral palsy
or intellectual disability (eg extremely low birthweight infants)
may be at risk of feeding difculties.
Dysphagia is a condition that afects:
several body functions and structures
activity and participation (eg eating and drinking; attendance
at work; preparation of meals; informal associations with
others; participation in ceremonies, religious events and
recreation and leisure).
*
In turn, the efect of dysphagia on the life of a person with
developmental disability is infuenced by environmental factors.
Tese include:
foods, products and technology
family, support people and service providers.
Te interaction of all these efects should be considered in
assessing and managing dysphagia in a person with develop-
mental disability.
Consequences of dysphagia can include:
death from choking
aspiration (inhaling food or fuid into the lungs) and its
complications (see below)
nutritional compromise (malnutrition and dehydration)
*
World Health Organization. International classication of functioning, disability and
health. Geneva: World Health Organization; 2001.
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Dysphagia 231
changes to usual patterns of oral intake
social isolation and a negative efect on psychosocial health
(eg depression, anxiety related to coughing or choking)
reduced quality of life.
Complications of aspiration related to dysphagia include
pneumonia, recurrent respiratory illness, wheezing and night-
time coughing. Some of these may be masked by, or mistaken
for, symptoms of asthma. Aspiration pneumonia is one of the
most common causes of death in people with developmental
disability. Eating and drinking without appropriate dietary and/
or positioning modifcations may be life-threatening (see advice
on minimising these risks).
Developmental disabilities may be considered stable conditions,
but some functional changes related to ageing must be
considered in the management of dysphagia. For example, the
swallowing skills of some people with developmental disability
deteriorate afer the age of 30 years. It is important to review
their swallowing ability and oral intake regularly.
PRESENTATION
A person with dysphagia and/or aspiration may present with
one or more of the following symptoms:
coughing or choking on food, fuid or saliva
drooling or poor saliva control
difculty chewing or swallowing food, fuids, drugs or saliva
(food or fuid falls out of the mouth)
taking a long time to eat
eating and drinking less (eg early satiety; food avoidance,
refusal or restricted range)
fatigue afer eating or drinking
disruption to normal sensations of hunger and satiety
being underweight or losing weight
lung involvement:
chronic wheezing
recurrent chest infections.
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Dysphagia 232
Many symptoms of dysphagia can be observed by the person
with dysphagia (or their support person) during mealtimes
or when administering drugs. However, the absence of some
symptoms does not mean there is no dysphagia. For example,
some people with reduced sensation, or a weak or inefective
cough refex, may not cough even if they aspirate food, fuid or
saliva. Silent aspiration (aspiration without triggering a cough
refex) is common in people with cerebral palsy. It might only
be detected by specifc investigations. If a persons physical
presentation suggests that dysphagia is present or suspected,
a full assessment by a speech pathologist and other relevant
professionals is indicated.
ASSESSMENT
A screening for dysphagia can be performed using a checklist
*
by
the persons general practitioner (GP), family member or other
support person. Following a positive screening, a comprehensive
multidisciplinary dysphagia assessment is indicated so informed
decisions can be made about interventions (see Box 9). Tis
may involve a number of professionals and may require clinical
and additional investigations. Gathering information from the
person with disability, family members and/or other support
people should be part of the assessment.
Dysphagia afects a persons health and quality of life. A person
with developmental disability and dysphagia may have difculty
communicating by speech and have complex communication
needs. It is important that they have a way to communicate.
Tey need to be included to the level of their understanding and
capacity in the dysphagia assessment and decisions that afect
their mealtimes.
A speech pathologist can be consulted to:
determine if a person vulnerable to poor communication
might beneft from:
*
A nutrition and swallowing risk checklist is available as attachment 1 to the nutrition
and swallowing policy of the New South Wales Department of Family and Community
Services Ageing, Disability and Home Care.
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Dysphagia 233
an augmentative or alternative communication (AAC)
system
other communication supports
update or redesign the persons existing form of AAC for use
during the assessment and throughout management.
Clinical assessment
Te role of a GP in working with the person with developmental
disability and dysphagia is to:
assess the persons clinical presentation
refer to other members of the multidisciplinary team.
Te GPs assessment should include an investigation of:
the primary clinical condition underlying the dysphagia
any associated conditions afecting the persons dysphagia (eg
respiratory compromise, gastro-oesophageal refux disease,
malnutrition, oral health problems)
current drug treatment (some drugs may afect the persons
ability to swallow)
family and social dynamics afecting the persons oral intake
factors associated with quality of life that are related to the
persons dysphagia or management.
Referral to a respiratory physician or gastroenterologist may
be needed for further assessment of the persons respiratory or
gastrointestinal status, respectively.
If the GP detects signs or symptoms of dysphagia, they can refer
the person to a speech pathologist for a full clinical assessment
of dysphagia and mealtimes. Within a multidisciplinary team,
the speech pathologist has several roles. Tese include to:
make clinical observations on the process of swallowing and
symptoms of dysphagia
advise the GP and other professionals on additional invest-
igations needed, so they can make appropriate referrals
advise on ongoing mealtime management and give reasons
for recommendations
advise on any therapeutic interventions to improve the
persons function in eating and drinking
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Dysphagia 234
advise if the person needs any communication supports or
AAC systems.
Te GP may also refer the person to a dietitian, to assess
nutritional status and any need for nutritional rehabilitation.
Cerebral palsy and other physical disabilities may afect a
persons ability to maintain an upright posture or appropriate
head positioning when swallowing (eg at mealtimes or other
times of oral intake). Poor posture, or inadequate seating or
head support while eating, may contribute to dysphagia and can
increase the risk of aspiration. People with physical disability
may need a customised seating system for:
optimal positioning during mealtimes
clinical assessment or additional investigation of dysphagia
and dietary intake.
Terefore it is important to consider the persons seating
and positioning, and make appropriate referrals (eg to an
occupational therapist and physiotherapist) if needed.
Investigations
Te person with dysphagia may require additional investigations
such as:
videofuoroscopy of the swallow (modifed barium swallow)
fbreoptic endoscopic examination of the gastro-oesophageal
tract.
Tese investigations can be used to:
identify the level, degree and type of dysphagia
determine the level and degree of aspiration and any factors
in the swallow that contribute to aspiration
assess the efect of positioning and other therapeutic strategies
that might help the swallow or reduce the risk or occurrence
of aspiration.
Other investigations may include radiology of the chest and tests
to assess nutritional status (eg iron studies, full blood count,
liver biochemistry, vitaminB
12
and folate concentrations, body
composition studies).
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Dysphagia 235
MANAGEMENT
Te GP should maintain an overall awareness of the persons
dysphagia in relation to other areas of their general health and
wellbeing.
Some interventions for dysphagia can reduce the risk of choking
or aspiration pneumonia and increase the efciency of oral
intake. Tey include:
modifying food or fuid consistencies according to the
persons difculty in swallowing
training support people to modify food and fuids
altering food quantities, meal timing or pacing of oral intake
teaching the person specifc swallowing techniques to protect
the airway.
Interventions to help the persons swallow include:
oromotor therapy designed to improve movement of the
mouth, lips, tongue and cheeks
specialised food utensils (eg cups, spoons, plates and bowls)
designed to increase independence or promote a more
efcient swallow
prompts to promote a safe swallow (eg cough, swallow again,
chin down)
training for support staf on techniques to help the person
eat.
Te person with dysphagia who is underweight or has difculty
maintaining adequate food intake may beneft from nutritional
rehabilitation and/or enteral tube feeding.
People with physical disability may need a customised seating
system to help them stay upright when eating or drinking.
Health problems related to the persons dysphagia (eg gastro-
oesophageal refux disease, efect of drugs, oral health) also need
to be managed. Drugs that might afect swallowing may need to
be reviewed (see next page).
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Dysphagia 236
Drugs and dysphagia
A number of drugs exacerbate dysphagia by:
reducing saliva fow (eg anticholinergic drugs)
causing nausea
afecting neuromotor control of the swallow (eg sedatives,
psychotropic and antiepileptic drugs).
Interactions between drugs can make dysphagia symptoms
worse and interfere with absorption of nutrients from food.
Dysphagia can also afect how a person takes drugs. If it
stops them from taking an oral drug in solid form, alternative
formulations must be considered (eg liquid, suppository, patch).
Saliva control
Poor saliva control or drooling can be a symptom of difculty
in swallowing, and has important social efects. It afects 10%
to 37% of people with cerebral palsy and a signifcant number
of people with other developmental disabilities. A range of
surgical, medical and behavioural interventions is used for saliva
management, with varying success. Interventions may include
referral for behaviour modifcation and biofeedback, oromotor
therapy, drug therapy and surgery.
Oral health
Poor oral health results in increased numbers of bacteria in the
oral area. Tis has been implicated as a signifcant factor in the
development of aspiration pneumonia in elderly people who
inhale food or fuids. Terefore, it is important that a person
with dysphagia and developmental disability maintains optimal
oral health through implementation of an oral health care plan.
Dental or gum infections must be treated promptly to reduce
the risk of the person developing respiratory illness related to
dysphagia and aspiration. See also the chapter on oral health.
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Dysphagia 237
Enteral nutrition
Enteral tube feeding should be considered if the person
with dysphagia cannot get adequate nourishment, despite a
reasonable trial of a nutrition care plan. A percutaneous tube
into the stomach should be considered if prolonged enteral
nutrition is likely (ie longer than 4 to 6 weeks). Gastrostomy
tube insertion may be combined with a fundoplication to reduce
gastro-oesophageal refux and aspiration. As a person who has
had both procedures may still aspirate their saliva, it is important
to maintain correct posture and positioning at mealtimes.
Decision-making framework
An ethical decision-making framework (Box 9) is helpful when
assessing and managing dysphagia in people with developmental
disability. Tis framework considers more than the body
structure and the function of swallowing. It guides physicians
in weighing up the facts about the persons dysphagia with the
potential harms and benefts of all treatment options.
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Dysphagia 238
Box 9. Decision-making framework for assessing and
managing a person with dysphagia*
Identication
What is the problem?
Who are the people involved? Consider the person, family members,
guardian, other support people, health professionals, advocate
Who can give consent?
Assessment
Include clinical assessments (eg speech pathologist, dietitian, respiratory
physician, gastroenterologist, occupational therapist) and investigations, as
required
Swallowing
Nutrition
Associated medical conditions
Complications
Seating
Communication
Quality of life of the individual, family, other support people
Assess the options for management
What are the options?
What are the benets and harms of each option?
What are the ethical and legal implications of each option?
Who and what does each option involve in practical terms?
Make a decision about management
Consider the values, beliefs and attitudes of all involved in the process
Take a collaborative approach and choose an option
Obtain consent
If people cant agree, look for a way to resolve this (eg conciliation,
independent assessment or [as a last resort] application to the Guardianship
Tribunal)
Implementation
Develop a plan to implement the chosen option
Implement the plan
Monitor, review and amend the plan as appropriate
* See attachment 2 (Decisions about nutrition) to the nutrition and swallowing policy
of the New South Wales Department of Family and Community Services Ageing,
Disability and Home Care.
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Dysphagia 239
Dysphagia [journal]. New York: Springer-Verlag.
Balandin S, Hemsley B, Hanley L, Sheppard JJ. Understanding mealtime changes for
adults with cerebral palsy and the implications for support services. J Intellect Dev Disabil
2009;34(3):197-206.
Feinberg M. The effects of medication on swallowing. In: Sonies BC, editor. Dysphagia: a
continuum of care. Gaithersburg, MD: Aspen Publishers; 1997. p.107-20.
Hemsley B, Balandin S. Disability, dysphagia, and complex communication needs: making
room for communication in ethical decisions about dysphagia. Adv Speech Lang Pathol
2003;5(2):125-9.
Kaatzke-McDonald M. Dysphagia, disability, and icebergs: a discussion. Adv Speech Lang
Pathol 2003;5(2):131-5.
Langmore SE, Terpenning MS, Schork A, Chen Y, Murray JT, Lopatin D, et al. Predictors of
aspiration pneumonia: how important is dysphagia? Dysphagia 1998;13(2):69-81.
Nunn JH. Drooling: review of the literature and proposals for management. J Oral Rehabil
2000;27(9):735-43.
Rosenthal S, Sheppard JJ, Lotze M. Dysphagia and the child with developmental
disabilities: medical, clinical and family interventions. San Diego (CA): Singular Publishing
Group; 1995.
Sonies BC. Dysphagia: a continuum of care. Gaithersburg, MD: Aspen; 1996.
Sullivan PB, Lambert B, Rose M, Ford-Adams M, Johnson A, Grifths P. Prevalence and
severity of feeding and nutritional problems in children with neurological impairment:
Oxford Feeding Study. Dev Med Child Neurol 2000;42(10):674-80.
Threats TT. Use of the ICF in dysphagia management. Semin Speech Lang 2007;28(4):323-
33.
Weir KA, McMahon S, Taylor S, Chang AB. Oropharyngeal aspiration and silent aspiration
in children. Chest 2011;140(3):589-97.
World Health Organization. International classication of functioning, disability and health.
Geneva: World Health Organization; 2001.
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Oral health 240
Oral health
Te efect of oral health on general health has been well
documented. Poor oral health increases the risk of aspiration
pneumonia and complicates the management of diabetes. Also,
oral health afects nutritional status.
Factors that increase the risk of dental disease in people with
developmental disability include:
inadequate plaque removal
reliance on support people for oral care (may be complicated
by challenging behaviour)
diet (may include frequent small meals and drinks that are
high in sugars and other carbohydrates)
poor oral clearance of foods (food debris lef around the
teeth)
drug-induced dry mouth (xerostomia)
increased incidence of gastro-oesophageal refux disease.
Patient fear can hinder optimal dental care. When examining
the mouth of a person with developmental disability, using their
toothbrush (instead of a spatula) may help. Some people are
sufciently traumatised by oral examinations that they need a
sedative or general anaesthetic for work to be performed.
ORAL CARE
Efective cleaning of teeth is important to minimise dental
caries and periodontal disease. Most people with developmental
disability need some help to clean their teeth. Toothbrushing is
a complex process that requires fne motor skills and planning.
If a toothbrush is used incorrectly, it can cause trauma to the
sof tissues of the mouth. It is natural to resist toothbrushing if it
has caused pain. People with developmental disability may show
challenging behaviours during toothbrushing.
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Oral health 241
Brushing another persons teeth can be a complex task. Support
people need to be taught how to brush peoples teeth efectively
without causing discomfort.
Most people with developmental disability need some help to
clean their teeth.
Interdental cleaning is ofen difcult for people with develop-
mental disability. Again, support people may be taught how to
help.
DENTAL CARIES
Saliva prevents tooth decay by washing away food debris and
remineralising teeth. People with developmental disability are
ofen taking drugs that may cause a dry mouth (eg tricyclic
antidepressant and anticholinergic drugs). Tis increases their
risk of dental decay.
Strategies to reduce the incidence of tooth decay include:
advising people with dry mouth to use high-dose fuoride
toothpaste
teaching people with developmental disability (and their
support people) to brush teeth with fuoride toothpaste twice
a day
discouraging frequent consumption of high-carbohydrate
snacks and sugary drinks
providing healthy snacks (eg cheese, nuts, raw vegetables)
providing alternative sweet foods (eg confectionery sweet-
ened with xylitol, in moderate quantities to avoid osmotic
diarrhoea)
promoting frequent drinking of water between (and with)
meals, and in place of sugary or acidic drinks
providing saliva substitutes for people with dry mouth
(replacing missing enzymes eg lactoperoxidase, lactoferrin
and lysozyme)
encouraging interdental cleaning (including using dental
foss) where possible.
For a detailed discussion of dental caries, see eTGcomplete.
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Oral health 242
DENTAL EROSION
Gastro-oesophageal refux disease (GORD) introduces stomach
acid into the mouth at regular intervals. Te acid erodes the
teeth, leaving them hypersensitive. Te degree and pattern of
tooth wear may be the frst indicators that a person sufers from
GORD. Te management of tooth wear is complex. In severe
cases, the teeth need restoration using an overlay technique
(expensive and complex). Early diagnosis of GORD is essential
to avoid this.
PERIODONTAL DISEASE
Failure to clean teeth efectively results in periodontal disease
(gum disease), which can lead to halitosis, dental caries and
tooth loss.
People with Down syndrome are more susceptible than the
general population to periodontal disease, due to a reduced
immunologic response caused by neutropenia. Torough
toothbrushing and interdental cleaning is essential.
Periodontal disease is discussed in detail in eTGcomplete.
DENTAL MALOCCLUSION
People with developmental disability have an increased
incidence of oromotor dysfunction, which in turn increases the
likelihood of dental malocclusion. Orthodontic treatment may
be appropriate. For the best result, this should commence when
secondary (adult) teeth are developing (ie between the ages of
6 to 12 years). During this time, children with developmental
disability should be examined regularly by an oral health
professional. If necessary, interceptive care to reduce the degree
of malocclusion can be provided. Conventional orthodontics
may not be possible for people with challenging behaviours.
RESOURCES
Resources on oral health for people with developmental
disability, their families, support people and professionals are
listed on the next page.
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Oral health 243
websites.
Dental Health Services Victoria
Resources for people with disabilities, health professionals and
carers to help people with disability to manage their oral health
British Society for Disability and Oral Health
Society for all interested in the oral health of people with
disability
International Association for Disability and Oral Health
(iADH)
Association working with the community, health professionals
and social or service organisations to improve the oral health
and quality of life of people with special needs
Holland TJ, OMullane DM. The organisation of dental care for groups of mentally handi-
capped persons. Community Dent Health 1990;7(3):285-93.
Kuo LC, Polson AM, Kang T. Associations between periodontal diseases and systemic
diseases: a review of the inter-relationships and interactions with diabetes, respiratory
diseases, cardiovascular diseases and osteoporosis. Public Health 2008;122(4):417-33.
Mustapha IZ, Debrey S, Oladubu M, Ugarte R. Markers of systemic bacterial exposure
in periodontal disease and cardiovascular disease risk: a systematic review and meta-
analysis. J Periodontol 2007;78(12):2289-302.
National Institute of Dental and Craniofacial Research. Developmental disabilities and oral
health [web page]. Bethesda, MD: NIDCR, National Institutes of Health (NIH); accessed
June 2012.
Nunn JH, editor. Disability and oral care. London: FDI World Dental Press; 2000.
Sullivan WF, Heng J, Cameron D, Lunsky Y, Cheetham T, Hennen B, et al. Consensus
guidelines for primary health care of adults with developmental disabilities. Can Fam
Physician 2006;52(11):1410-8.
Waldman BH, editor. Abstracts in developmental dentistry [web page]. Prospect, KY:
American Academy of Developmental Medicine and Dentistry; accessed June 2012.
Williams RC, Barnett AH, Claffey N, Davis M, Gadsby R, Kellett M, et al. The potential
impact of periodontal disease on general health: a consensus view. Curr Med Res Opin
2008;24(6):1635-43.
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Sexual expression 244
Sexual expression
People with developmental disability have the same range of
sexual desires and expression as the rest of the community.
However, they may have limited life experiences and limited
social opportunities to learn about sexuality. People with
developmental disability can be assisted to develop their sexual
expression to its full potential.
When a person with developmental disability becomes sexually
active, their parents or other support people may be anxious.
Tis anxiety about the risks and the vulnerability of the person
may not be warranted. Each case needs to be assessed on its
merits.
People with developmental disability and those supporting them
need:
appropriate and accessible information on sexuality
advice on how the person can incorporate this part of their
identity into their daily life.
General practitioners have a substantial role as educators. Te
appropriate approach varies with the needs of each person with
developmental disability. It is important to:
consider what treatment or counselling they would be given
if they did not have a disability
be aware of myths and stereotypes about the sexuality of
consider the underlying cause of any form of sexual ex-
pression that is problematic.
FACTORS AFFECTING SEXUAL EXPRESSION
Adolescence or early adulthood is the time when a persons
awareness and expression of their sexuality develops. See sexual
expression in an adolescent with developmental disability.
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INAPPROPRIATE SEXUAL BEHAVIOUR
Inappropriate sexual behaviour in a person with developmental
disability may be due to a lack of knowledge or experience. If
a person masturbates in public, it may be because they dont
understand the diference between public and private places.
Inappropriate sexual behaviour may also be related to the
persons disability. For example, if a person has repetitive and
obsessive behaviour, this may afect how they express their
sexuality. Inappropriate sexual behaviour may also be an
expression of:
a medical condition (eg the discomfort of a urinary tract
infection or chronic constipation)
boredom or a lack of meaningful activity.
When counselling a person with inappropriate sexual behaviour:
exclude any underlying medical and/or psychiatric causes
consider the underlying cause of their disability and its
associated problems
encourage ongoing education in all aspects of human rela-
tions and sexuality
consider whether they have sufcient meaningful activities
encourage them to seek opportunities to develop worthwhile
and meaningful relationships (including sexual relationships)
with others.
If appropriate, the person should be referred for behaviour
management and education.
MASTURBATION
Masturbation is a normal and natural experience for men and
women of all ages. Sometimes masturbation may not in itself be
a sexual act. It may simply be a form of sensory stimulation that
is readily accessible and usually pleasurable. Masturbation at the
appropriate time and place can be acceptable behaviour.
Acceptable behaviour when a person with developmental
disability wants to masturbate can be encouraged by:
redirecting them to their room when appropriate
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ensuring they have privacy
ensuring age-appropriate access to erotic materials (eg
magazines, posters, pictures)
providing appropriate education and opportunities to explore
this aspect of their sexual development
teaching socially acceptable rules of sexual behaviour (eg
masturbation is an activity that occurs in a private place
[such as a bedroom], any bodily fuids should be cleaned up
[logical consequences])
educating support people (if necessary) about socially
acceptable behaviour.
Parents and other support people may become concerned
when they think the person with developmental disability is
masturbating too ofen. Te reason for masturbating should be
sought if it is causing physical injury or signifcantly afecting
the persons daily life. Usually there is no medical cause. Ofen,
frequent masturbation is an expression of boredom and the
absence of other meaningful and enjoyable activities.
Te frequency of masturbation can be afected by changing
environmental factors. For example, support people may
fnd that redirecting the person to other activities is the most
appropriate strategy.
Anal masturbation
Some people derive sexual pleasure from anal masturbation,
and sometimes this is associated with faecal smearing. A person
who chooses to masturbate this way is likely to continue, despite
how others feel about it. Terefore it is important to teach them
to be responsible in this practice.
Responsible anal masturbation practices include:
not smearing faeces
practising good hygiene before and afer masturbation
ensuring foreign objects and sex toys used during
masturbation are unbreakable, have smooth surfaces and can
be retrieved
masturbating in private.
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HOMOSEXUALITY
Homosexuality does not appear to be more or less frequent
in people with developmental disability than in the rest of the
population. However, many older people with developmental
disability have spent long periods in institutions, usually in
same-sex units. Teir sexual experiences may have been limited
to same-sex activity through lack of opportunity, rather than as
a sexual preference.
People with developmental disability need opportunities to so-
cialise and experience a range of relationships so they can realise
their sexual preferences. Safe sex practices should be encouraged.
CONTRACEPTION
Providing contraception to a person with developmental dis-
ability removes the fear of an unwanted pregnancy. However, it
does not diminish their vulnerability to sexual abuse, exploitation
or sexually transmissible infections (STIs).
When considering contraception, the persons needs should be
assessed from the least restrictive point of view. Te decision
should not be based on what is easier for parents or other
support people. Te views of the person with developmental
disability should be explored, by talking with them if possible.
Teir ability to give informed consent to sexual contact or a
relationship also needs to be assessed.
Advice on contraception should always include:
the rights and responsibilities of being sexually active
protective behaviour strategies, such as teaching a person
about:
their body parts
how to sense their feelings
knowing when they dont feel safe, and how to talk about
it with someone they trust
safe sex practices (eg safe touching, using condoms to avoid
STIs)
the right to say no.
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Te practitioner may consider informing parents or other
support people about:
appropriate medical review (timing and type)
potential adverse efects of the chosen form of contraception.
See contraceptive choices for women.
Boys and men should be given explicit explanations about the
correct use of condoms. Teir understanding of this information
should be checked carefully. Tis is essential, so they have the
information they need to protect themselves and their partner.
PREVENTIVE HEALTH CARE
Preventive health screening for people with developmental
disability is the same as for the rest of the population (see
Table 9). It should never be assumed that a person with develop-
mental disability is not having sexual intercourse. Regardless
of the perceptions of family and other support people, they
need education about STIsthis should be appropriate to their
learning level.
RESOURCES
Te following websites have information on sexual health,
education and contraception.
websites.
Family Planning Queensland (disability services and
resources)
HealthInsite
Sexual Health and Family Planning Australia
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Cambridge P, Carnaby S, McCarthy M. Responding to masturbation in supporting sexuality
and challenging behaviour in services for people with learning disabilities a practice and
research overview. J Learn Disabil 2003;7(3):251-66.
Eastgate G. Sexual health for people with intellectual disability. Salud Publica Mex 2008;50
Suppl 2:s255-9.
Hamilton CA. Now Id like to sleep with Rachael: researching sexuality support in a service
agency group home. Disabil Soc 2009;24(3):303-15.
Healy E, McGuire BE, Evans DS, Carley SN. Sexuality and personal relationships for people
with an intellectual disability. Part I: service-user perspectives. J Intellect Disabil Res
2009;53(11):905-12.
Higgins D. Sexuality, human rights and safety for people with disabilities: the challenge of
intersecting identities 1. Sex Relation Ther 2010;25(3):245-57.
Hingsburger D, Tough S. Healthy sexuality: attitudes, systems, and policies. Res Pract
Persons Severe Disabl 2002;27(1):8-17.
Rissel CE, Richters J, Grulich AE, de Visser RO, Smith AM. Sex in Australia: selected
characteristics of regular sexual relationships. Aust N Z J Public Health 2003;27(2):124-
30.
Stinson J, Christian LA, Dotson LA. Overcoming barriers to the sexual expression of women
with developmental disabilities. Res Pract Persons Severe Disabl 2002;27(1):18-26.
Swango-Wilson A. Caregiver perceptions and implications for sex education for individuals
with intellectual and developmental disabilities. Sex Disabil 2008;26(3):167-74.
Taylor Gomez M. The S words: sexuality, sensuality, sexual expression and people with
intellectual disability. Sex Disabil 2012;30(2):237-45.
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Angelman syndrome 250
Angelman syndrome
Angelman syndrome is a severe neurodevelopmental disorder
associated with intellectual disability. It also features severe
speech impairment, gait ataxia and tremulousness of the limbs.
People with Angelman syndrome have distinctive behaviour
with an inappropriate happy afect, which includes frequent
laughing, smiling and excitability. Microcephaly and seizures
are common.
Te epidemiology of Angelman syndrome has only been studied
in relatively small populations. Te estimated prevalence varies
with the method used, and ranges from 1in52000 to 1in10000
births. In Western Australia, the estimated prevalence is approxi-
mately 1in21 000 births.
*
CAUSE
Angelman syndrome is caused by several genetic mechanisms
involving chromosome15. Tese include:
a deletion of the 15q11.2-q13 critical region (60%to 75%)
a mutation in the ubiquitin-protein ligase E3A (UBE3A) gene
(10%)
paternal uniparental disomy (2%to 5%)
an imprinting defect (2%to 5%).
Te risk of recurrence varies according to the type of mutation.
*
Leonard H, Petterson B, Bourke J, Glasson E, Morgan V, Bower C. Inaugural report
of the idEA database: intellectual disability in Western Australia. Perth, WA: Telethon
Institute for Child Health Research; 2004.
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DIAGNOSIS
Diagnosis of Angelman syndrome is challenging, and based
on the clinical characteristics in Table 17. It usually requires
evaluation by a clinician (eg developmental paediatrician,
clinical geneticist) who is familiar with the nuances of this
syndrome. Clinical diagnosis is difcult in the frst 2to 3years
of life. Conditions with a similar presentation include Rett
syndrome, Lennox Gastaut syndrome, autism spectrum disorder
and nonspecifc cerebral palsy.
In about 90% of cases, clinical diagnosis can be confrmed by
genetic testing.
CLINICAL CHARACTERISTICS
Te developmental history of people with Angelman syndrome
reveals:
normal antenatal and birth history
normal head circumference at birth
no major birth defects
developmental delay by 6to 12months of age that is ongoing,
but not accompanied by regression.
Investigations show:
normal metabolic, haematological and chemical laboratory
profles
normal brain structure.
Table 17 lists the characteristics of Angelman syndrome and
their chance of being present in afected people.
Children with Angelman syndrome can acquire some simple
skills associated with daily living, but not enough to live in-
dependently. By adulthood, about 80% are toilet-trained by day.
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Table 17. Clinical characteristics of Angelman
syndrome
*
Present in 100%
of cases
Present in at least
80% of cases
Present in 20% to
80% of cases
severe developmental
delay
speech impairment
(minimal or no use of
words)
movement or balance
disorder
distinctive behavioural
phenotype
frequent laughter
excitability
hand-apping
hyperactivity
microcephaly (absolute
or relative) by the age
of 2 years
seizures (onset usually
before the age of
3 years)
abnormal
electroencephalogram
(pattern characteristic
of this syndrome)
at occiput
occipital grooves
deep-set eyes
feeding problems/
hypotonia during infancy
prominent jaw
wide mouth, widely
spaced teeth
frequent drooling
protruding tongue
tongue thrusting
excessive chewing/
mouthing behaviours
strabismus
hypopigmented skin
fair to blond hair
hyperactive lower limb
deep tendon reexes
(often difcult to assess)
uplifted exed arm
position, especially when
walking
wide-based gait
increased sensitivity to
heat
sleep disturbances
(improve with age)
fascination with water
abnormal food-related
behaviours
obesity
scoliosis
constipation
* Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, et al.
Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med
Genet A 2006;140(5):413-8.
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MANAGEMENT
Managing a person with Angelman syndrome includes estab-
lishing the diagnosis, particularly because it gives parents:
an explanation for their childs disability
access to the benefts of a support association.
Conditions that need to be managed include:
seizures
gastrointestinal problems (eg gastro-oesophageal refux,
constipation)
orthopaedic problems (eg subluxed or pronated ankles)
hyperactive behaviour
sleep problems
obesity.
Arranging respite care is also important.
Children may beneft from physiotherapy and occupational and
speech therapy.
RESOURCES
websites.
Te Angelman Syndrome Association provides information and
support for parents, professionals and other interested people.
Angelman Syndrome Association
Telephone (02) 9520 5857
A multidisciplinary Angelman syndrome clinic is located in
Sydney, New South Wales.
Te Angelman Syndrome Clinic
Developmental Assessment Service
PO Box 90, Kogarah NSW 2217
Telephone (02) 8566 1222 or 1300 721 770
Email AngelmanClinic@sesiahs.health.nsw.gov.au
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Bonanni P, Gobbo A, Nappi S, Moret O, Nogarol A, Santin M, et al. Functioning and
disability in patients with Angelman syndrome: utility of the international classication of
functioning disability and health, children and youth adaptation framework. Disabil Rehabil
2009;31 Suppl 1:S121-7.
Clayton-Smith J, Pembrey ME. Angelman syndrome. J Med Genet 1992;29(6):412-5.
Leonard H, Petterson B, Bourke J, Glasson E, Morgan V, Bower C. Inaugural report of the
idEA database: intellectual disability in Western Australia. Perth, WA: Telethon Institute for
Child Health Research; 2004.
Petersen MB, Brondum-Nielsen K, Hansen LK, Wulff K. Clinical, cytogenetic, and molecular
diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county. Am J Med
Genet 1995;60(3):261-2.
Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, et al.
Angelman syndrome: Mutations inuence features in early childhood. Am J Med Genet A
2011;155A(1):81-90.
Thomson AK, Glasson EJ, Bittles AH. A long-term population-based clinical and morbidity
prole of Angelman syndrome in Western Australia: 1953-2003. Disabil Rehabil 2006;
28(5):299-305.
Van Buggenhout G, Fryns JP. Angelman syndrome (AS, MIM 105830). Eur J Hum Genet
2009;17(11):1367-73.
Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, et al.
Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A
2006;140(5):413-8.
Williams CA, Driscoll DJ, Dagli AI. Clinical and genetic aspects of Angelman syndrome.
Genet Med 2010;12(7):385-95.
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Autism spectrum disorder 255
Autism spectrum disorder
Autism spectrum disorder is a group of lifelong neurodevelop-
mental disabilities with onset before the age of 3 years (see
characteristics of the spectrum). Clinically the disorder has a
range of overlapping presentations. Te three most common
types are:
autistic disorder
Asperger disorder
atypical autism (pervasive developmental disorder not
otherwise specifed [PDDNOS]).
Other pervasive developmental disorders include Rett syndrome
and childhood disintegrative disorder.
Autism spectrum disorder is an abnormality of brain develop-
ment and function. It is likely to have multiple causes. Twin
studies strongly support genetic factors as a cause. A medical
condition (eg tuberous sclerosis) may be associated in 10%
to 37% of cases. Tere is no evidence to support theories that
autism is caused by environmental factors (eg immunisations)
or parenting style.
Autistic disorder has a prevalence of about 0.8 to 1 in 1000.
Te prevalence of Asperger disorder is likely to be higher, with
estimates as high as 3in 1000. Te prevalence of atypical autism
is not known, but is estimated to be 1in 1000. In Australia, on
average, 1in 160children aged 6to 12years old has an autism
spectrum disorder.
*
More children with autism spectrum
disorder are presenting for services. Tis may refect an increase
in incidence, but is more likely due to improved case-fnding.
*
Australian Advisory Board on Autism Spectrum Disorders. The prevalence of autism in
Australia: can it be established from existing data? Frenchs Forrest, NSW: Australian
Advisory Board on Autism Spectrum Disorders; 2007.
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Children with autism spectrum disorder do not grow out of
it, but their symptoms change and ofen improve with age. If
they develop epilepsy in adolescence, this can compromise
their progress. Outcome depends on IQ and the development
of language abilities and social skills. Te best outcomes are
seen in people with an IQ in the normal range who have spoken
language by the age of 5years.
CHARACTERISTICS
Autism spectrum disorder is associated with a core triad of:
impaired social interaction and development
impaired verbal and nonverbal communication
repetitive, stereotyped and restricted behaviour.
Asperger disorder difers from autistic disorder in that:
children with Asperger disorder do not have impaired early
communication and play
children with Asperger disorder do not have a language delay
Asperger disorder is not associated with intellectual disabil-
ity or defcits in nonsocial adaptive function.
General practitioners (GPs) can watch out for the following
characteristics that may indicate autism spectrum disorder. For
example, the child who:
does not babble, point or make meaningful gestures by the
age of 1year
does not speak single words by the age of 16months
does not combine two words by the age of 2years other than
by echolalia
does not respond to their name
loses language or social skills at any age.
Impaired social interaction
Impaired social interaction can present in a person with autism
spectrum disorder in a variety of ways, as described on the next
page.
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Typically, people with classic autism may:
be aloof and fail to develop friendships
be socially passive (while tolerating social approaches)
be awkward, avoidant or indiferent with eye contact (unless
eye contact has been taught)
have markedly impaired use of nonverbal behaviours to
regulate social interaction (eg gestures and facial expression)
lack spontaneity in seeking to share enjoyment with others.
People with high-functioning autism (ie with normal intelli-
gence) or Asperger disorder are likely to:
seek peoples company, but may have difculty engaging in
two-way social interactions
have stilted, one-sided or repetitive social interactions
be unable to understand social rules (eg make socially
embarrassing comments unintentionally)
have impaired understanding of the motivations, perspective
or feelings of others.
Te proposed DSM-V category for autism spectrum disorder
is a diagnosis closer to classic autism. If accepted, it may result
in poorer detection of children currently being diagnosed with
Asperger disorder.
Impaired communication and play
Te development and qualitative use of communication
may be impaired in a person with autism spectrum disorder.
Consequences include:
delay in (or lack of) speech development, without a compen-
satory form of communication (eg gesture, mime)
signifcant difculty initiating and sustaining a conversation
stereotyped or idiosyncratic use of language
lack of imitation of others.
Te play of a child with autism spectrum disorder lacks the
variety or make-believe that is appropriate to their developmental
level.
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Restricted, repetitive and stereotyped interests
and behaviours
Te interests and behaviours of a person with autism spectrum
disorder are ofen restricted, repetitive and stereotyped.
Examples are:
interests that are excessively narrow, intense or unusual
adherence to rigid routines
intolerance of change
stereotyped/repetitive motor mannerisms (eg hand-fapping)
persistent preoccupation with parts of objects.
AUTISTIC DISORDER, ASPERGER DISORDER
AND ATYPICAL AUTISM
Autistic disorder is the best-known disorder in the autism
spectrum, and is sometimes called classical, Kanner or
childhood autism. It is more common in males than females
(3:1). People with autistic disorder have the core triad of impaired
social interaction, impaired communication and repetitive,
stereotyped behaviour. 70% of people with autistic disorder
have intellectual disability. Te remaining 30%, with an IQ in the
normal range, are sometimes called high functioning. Despite
this, they ofen have major difculty functioning independently.
On intelligence testing their profle may be uneven, with
advanced visuomotor skills but delayed verbal performance.
Asperger disorder is also more common in males than females
(13:1), but it may be underdiagnosed in females. Diagnosis is
based on impaired social interaction and restricted, repetitive
and stereotyped interests and behaviours. Language is not
signifcantly delayed, but its social use is subtly impaired. Tis
is ofen disabling because it leads to teasing and social isolation.
People with Asperger disorder have normal or borderline
intellectual ability, as classifed by DSM-IV criteria.
*

*
Association; 2000.
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On psychological assessments they may have better verbal skills
than nonverbal skills. Other typical characteristics are:
clumsiness
concrete pedantic speech
lack of common sense
normal (or even precocious) speech development
intolerance of change
anxiety.
People with Asperger disorder ofen want friendships, but lack
the skills to make and maintain them.
Atypical autism is also known as pervasive developmental
disorder not otherwise specifed (PDDNOS). Tis diagnostic
grouping is used when core autistic behaviours are present
but the criteria for autistic disorder are not fully met. Reasons
for not meeting these criteria include late age of onset or
symptomatology that is atypical or subthreshold.
COMMON ASSOCIATED CONDITIONS
Certain conditions are common in association with autism
spectrum disorder. Te main neurological comorbidities
are epilepsy, fne and gross motor impairments and sleep
disturbances. Epilepsy is common in people with autism
spectrum disorder, and can develop at any age.
Many people with autism spectrum disorder also have unusual
sensory responses. Tese include:
sensitivity (or aversion) to certain sounds or tactile sensations
intolerance of certain foods
fascination with spinning objects or lights.
Emotional and behavioural problems are common in autism
spectrum disorder, afecting more than 50% of people.
Depression, anxiety disorders and schizophrenia and related
psychoses may emerge during adolescence and continue into
adulthood. See assessment and management of psychiatric
disorders.
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People with autistic disorder form afectionate attachments to
those they know well, and experience sadness and grief afer loss
or bereavement. Particularly in childhood, they may develop
behavioural problems (eg angry outbursts, self-injury, feeding
difculties or fads, sleep disorders, hyperactivity). Anxiety
may underlie many of these problemsit may be due to poor
communication skills, overstimulation or lack of predictability
in the persons environment.
DIAGNOSIS
Accurate diagnosis of autism spectrum disorder is important.
Parents ofen suspect that their child is diferent. Trough
assessment, they can understand their childs needs and strengths
better. Early diagnosis maximises learning opportunities.
Trough the Helping Children with Autism program, specifc
Medicare items may apply for specialist and multidisciplinary
assessment and therapy.
Diagnosis of autism spectrum disorder requires specialist team
skills.
Diagnosis in adulthood is more difcult. However, previously
undiagnosed adults without signifcant intellectual disability
ofen fnd a diagnostic assessment is helpful. It explains their life
experience and gives them access to support (eg a student with
Asperger disorder may beneft from educational help to study
efectively).
A discussion of the diagnostic process is available from Autism
Victoria.
MANAGEMENT
Autism spectrum disorder should be managed with a multimodal
program of targeted and structured educational and behavioural
interventions. If indicated, these may be supplemented with
pharmacotherapy. Management should include training in
educational, behavioural and social skills and communication.
Tis should be tailored to the persons intellectual ability,
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language ability, age and needs. Psychoeducational support for
parents and siblings, together with an individual management
program, produces a better outcome. No one approach to
intervention and treatment can be applied to all people with
autism spectrum disorder.
Early behavioural management
Training in behavioural management and skills by a
multidisciplinary team (eg psychologists, speech pathologists
and occupational therapists) produces better outcomes for
children with autism spectrum disorder. Behavioural approaches
may involve promoting competent behaviours and reducing
difcult or antisocial behaviours. Antecedents and consequences
of the target behaviours need to be identifed.
A range of behavioural techniques is appropriate for people with
autism spectrum disorder. It includes positive reinforcement,
verbal and nonverbal prompting and behavioural chaining
(ie setting small goal steps to slowly teach the child a new
behaviour). Evidence suggests Applied Behaviour Analysis
(ABA) improves cognitive skills in preschool children. However,
ABA programs are time-consuming and a fnancial burden
for families. Other approaches include the treatment and
education of autistic and related communication handicapped
children (TEACCH) program, sensory integration therapy and
augmentative communication.
Other interventions
Other educational and behavioural interventions that contribute
to better adjustment to autism spectrum disorder include:
augmenting communication by visual means (eg picture
communication books, diaries, rule books)
managing sensory-induced stress
improving coordination by sensory integration and motor
interventions, prescribed by an occupational therapist or
physiotherapist
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reducing anxiety (eg relaxation exercises, environmental
modifcation, martial arts)
modelling appropriate sequences of behaviour using Social
Stories or personalised picture and text stories of daily or
special events (eg Bill goes to school on the bus).
Parents of children with autism spectrum disorder (more so
than for any other disability) ofen have mental health problems,
resulting from the stress of caring for their child. Parent
education and skills training in managing autistic behaviours
improves outcomes for the family and child.
Drug therapy
Behavioural, educational and social approaches are the main
treatments for autism spectrum disorder. Using psychotropic
drugs to reduce the severity of some symptoms may be
considered if:
behavioural therapy and environmental modifcation have
failed
the benefts of drug therapy outweigh the harms.
Specialist psychiatric consultation is needed. For discussion of
pharmacological management in autism spectrum disorder, see
eTGcomplete.
Te GP has an important role in managing a person with autism
spectrum disorder. Tey can:
identify autism spectrum disorder as early as possible
initiate referral for assessment
improve the quality of the persons medical care (eg by
adapting their clinical approach, taking into account the
persons social, communicative and behavioural patterns).
Te GP can also help the persons family. Tey can:
support the family during, and afer, diagnosis (eg help them
to access information and services)
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address the needs of family members (eg parental grief, stress
or depression; efect on siblings)
reassure parents that the:
cause of their childs autism spectrum disorder is outside
their control, and they need not feel guilty
condition can be improved by specifc behaviour
interventions.
RESOURCES
Te following services can be helpful for people with autism
spectrum disorder and their families:
children up to the age of 6years: early intervention services
school-age children: school psychological services, special-
ist autism services, government disability services, and
relevant medical services (eg paediatric, psychiatric)
adults: autism-specifc serviceswhen the person also has
intellectual disability, they can access disability services.
Services for eligible children may be accessed through the
Helping Children with Autism program, Australian Govern-
ment Department of Health and Ageing.
Other services include respite care, home help, and social
skills and work preparation courses for adolescents and young
adults. Information is available from local government disability
services and local autism or Asperger disorder organisations.
Fact sheets
Fact sheets on many aspects of autism spectrum disorder are
available from the Autism Secondary Consultation and Training
Strategy (ACT-NOW), Monash University, Victoria.
State autism associations
State autism associations provide information and support for
parents, professionals and other interested people.
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websites.
Autism Asperger ACT
Telephone (02) 6176 0514
New South Wales
Autism Spectrum Australia (Aspect)
Telephone (02) 8977 8300
Northern Territory
Autism Northern Territory
Telephone (08) 8948 4424
Queensland
Autism Queensland
Telephone (07) 3273 0000
South Australia
Autism SA
Telephone (08) 8379 6976
Tasmania
Autism Tasmania
Victoria
Amaze
Western Australia
Autism Association of Western Australia
Telephone (08) 9489 8900
Association; 2000.
Australian Advisory Board on Autism Spectrum Disorders. The prevalence of autism in
Australia: can it be established from existing data? Frenchs Forrest, NSW: Australian
Advisory Board on Autism Spectrum Disorders; 2007.
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Autism spectrum conditions. In: Lindsay P, editor. Care of the adult with intellectual dis-
ability in primary care. London: Radcliffe; 2011. p.210-15.
Brereton AV, Tonge BJ. Pre-schoolers with autism: an education and skills training pro-
gramme for parents: a manual for parents. London: Jessica Kingsley; 2005.
Brereton AV, Tonge BJ. Pre-schoolers with autism: an education and skills training pro-
gramme for parents: manual for clinicians. London: Jessica Kingsley; 2005.
Campbell M, Schopler E, Cueva JE, Hallin A. Treatment of autistic disorder. J Am Acad
Child Adolesc Psychiatry 1996;35(2):134-43.
Carr J. Helping your handicapped child. 2nd ed. Harmondsworth (Middlesex): Penguin
Books; 1995.
Gillberg C. Clinical child neuropsychiatry. Cambridge: Cambridge University Press; 1995.
Maski KP, Jeste SS, Spence SJ. Common neurological co-morbidities in autism spectrum
disorders. Curr Opin Pediatr 2011;23(6):609-15.
Maurice C, Green G, Luce SC. Behavioral intervention for young children with autism: a
manual for parents and professionals. Austin, Tex.: Pro-Ed.; 1996.
McPartland JC, Reichow B, Volkmar FR. Sensitivity and specicity of proposed DSM-
5 diagnostic criteria for autism spectrum disorder. J Am Acad Child Adolesc Psychiatry
2012;51(4):368-83.
Prior M. Is there an increase in the prevalence of autism spectrum disorders? J Paediatr
Child Health 2003;39(2):81-2.
Schopler E. Parent survival manual: a guide to crisis resolution in autism and related
developmental disorders. New York: Plenum Press; 1995.
Tonge B, Brereton A, Kiomall M, Mackinnon A, King N, Rinehart N. Effects on parental mental
health of an education and skills training program for parents of young children with autism:
a randomized controlled trial. J Am Acad Child Adolesc Psychiatry 2006;45(5):561-9.
Tonge BJ. Autism: time for a national approach to early assessment and management.
Med J Aust 1996;165(5):244-5.
Volkmar FR, Klin A. Autism and pervasive developmental disorders. In: Gelder MG, Lopez-
Ibor JJ, Andreasen N, editors. New Oxford textbook of psychiatry. Oxford: Oxford University
Press; 2000. p.1723-34.
Werry JS, Aman MG, editors. Practitioners guide to psychoactive drugs for children and
adolescents. New York, NY: Plenum Medical Book Co; 1993.
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Cerebral palsy 266
Cerebral palsy
Cerebral palsy describes a group of developmental disorders
of movement and posture causing activity restriction or
disability, that are attributed to disturbances occurring in the
fetal or infant brain. Te motor impairment may be accom-
panied by a seizure disorder and by impairment of sensation,
cognition, communication and/or behaviour and by secondary
musculoskeletal problems.
*
It has a prevalence of 2.0to 2.5per
1000 live births. Most people with cerebral palsy live into
adulthood, and many live into old age.
As cerebral palsy is caused by a diference in development of, or
injury to, the developing brain, it is nonprogressive. However,
people with cerebral palsy experience changes in function
throughout their lives. Tese may result from:
changes in relative length of muscles and bones during
periods of rapid growth
contractures, joint subluxation, dislocation or deterioration
(arthritis)
the efects of medications
the efects of physical or mental ill health.
Te physical wear and tear on the musculoskeletal system, in
some cases compounded by chronic ill health, takes its toll. Tis
means that people with cerebral palsy may begin to experience
the efects of ageing as early as their late twenties or early thirties.
*
Rosenbaum P, Paneth N, Leviton A, Goldstein M, Bax M, Damiano D, et al. A report: the
denition and classication of cerebral palsy April 2006. Dev Med Child Neurol Suppl
2007;49(suppl. 109):8-14.
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Cerebral palsy 267
CAUSE
Te term cerebral palsy describes a movement disorder, but
gives no information about the cause of the motor impairment.
Cerebral palsy has diverse risk factors (eg low birthweight
and prematurity) and causes. It may result from events in the
prenatal, perinatal or postneonatal period. Whenever possible,
the cause should be established. In a considerable proportion of
cases it remains unknown.
Information about the cause of cerebral palsy is helpful for
families and a foundation for accurate genetic counselling.
A brain scan (by magnetic resonance imaging) should be
performed if the cause is not apparent. Investigations such as
urinary metabolic screening and chromosome analysis may
elucidate rare causes.
Prenatal events are responsible for approximately 75% of cases
of cerebral palsy. Known causes include congenital intrauterine
infection (eg rubella, cytomegalovirus, toxoplasmosis), vascular
events (eg middle cerebral artery occlusion) and malformations
(eg cortical dysplasias).
Perinatal asphyxia accounts for only 8% to 10% of cases of
cerebral palsy. It may be the result of antepartum haemorrhage
or other placental or cord problems. Neonatal problems (eg
severe hypoglycaemia, untreated jaundice) may also cause
cerebral palsy.
Postneonatal events account for about 10% of cases of cerebral
palsy. Known causes include:
accidental injury (eg hypoxic events [such as near-drowning
accidents], head trauma [such as from motor vehicle
accidents])
nonaccidental injury, resulting in head injury
severe brain infections (eg meningitis).
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Cerebral palsy 268
CLASSIFICATION
Cerebral palsy may be classifed according to the:
type of motor disorder (eg spasticity, dyskinesia, ataxia,
mixed)
distribution of the motor disorder (eg hemiplegia, diplegia,
quadriplegia)
severity of the efect of the motor disorder on function.
Spasticity is the most common type of motor disorder (about
70% of cases). Te increased muscle tone has a characteristic
clasp-knife quality. Clinical features include impaired control of
voluntary movement, and ofen there is underlying weakness.
Contractures may result.
Dyskinesia (dystonia or athetosis) usually afects the whole body
(including all four limbs), and generally results from damage
to the basal ganglia. It is characterised by variable muscle tone
and involuntary movements. Dystonia is the term for sustained
muscle contractions that frequently cause twisting or repetitive
movements or abnormal postures. Athetosis refers to slow
writhing movements involving the distal parts of the limbs.
Ataxia is a disorder of balance associated with damage to the
cerebellum. Unsteadiness, tremor and hypotonia may be present.
A mixture of more than one type of motor disorder is common,
particularly the combination of spasticity and dystonia.
Te severity of the motor disorder is best described by the Gross
Motor Function Classifcation System (GMFCS), a fve level
grading system based on functional abilities.
*
Tis system gives

an objective measure that facilitates communication between
health professionals, families and researchers.
*
Palisano R, Rosenbaum P, Walter S, Russell D, Wood E, Galuppi B. Development and
reliability of a system to classify gross motor function in children with cerebral palsy. Dev
Med Child Neurol 1997;39(4):21423.

Descriptors and illustrations of the ve Gross Motor Function Classication System
(GMFCS) levels in children aged 6 to 12 years.
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Cerebral palsy 269
PRESENTATION
Cerebral palsy may present in childhood as:
delayed motor milestones
asymmetric movement patterns
abnormal muscle tone
management problems (eg severe feeding difculties,
abnormal behaviour [such as irritability]).
Cerebral palsy may be diagnosed at follow-up of infants at risk
(eg infants born extremely prematurely, or with a history of
neonatal encephalopathy).
Some people with cerebral palsy have a motor disorder alone,
but others have associated disabilities (cognitive and/or sensory
impairments) and complex chronic health problems.
Many infants who develop cerebral palsy have normal tone
during their frst few months. Te onset of spasticity may be
gradual. Similarly, athetoid movements may not appear until
the ages of 9months to 18months. Progressive neurodevelop-
mental disorders and spinal lesions may present in a similar
manner to cerebral palsy, and must be excluded.
A diagnosis of cerebral palsy must be discussed openly with the
childs parents.
MANAGEMENT
Te care of a person with cerebral palsy usually requires a
multidisciplinary team. No one health professional can address
all the persons needs. Te team includes:
health professionals (medical, nursing, allied health)
education professionals (teachers, psychologists)
disability professionals (case management, behaviour
expertise)
community services (social, skill building, recreational, art
and craf, exercise).
All contribute to optimising the health and independence of
people with cerebral palsy, and helping them participate in their
communities.
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Cerebral palsy 270
Children and adolescents
Te family general practitioner (GP) is essential in caring for the
child with cerebral palsy. Teir role includes:
accurate diagnosis of the cause of cerebral palsy (when
possible) and genetic counselling
monitoring general health
treatment of associated impairments and intercurrent
illnesses
referral to paediatricians (general and rehabilitation) to as-
sist with diagnosis, assessment, monitoring and management
referral to allied health professionals, teachers and com-
munity and disability services, and liaison and collaboration
with them.
Te GP also has an important role supporting parents and
siblings, and providing information and counselling when
needed. Tey are central in the transition to adult care.
Management of a child with cerebral palsy needs a multi-
disciplinary team approachtheir family are an essential part
of this. Goals for young children should be set jointly by parents
and health care providers. Older children and adolescents should
be actively involved to the level of their ability. It is important
to see the child as part of the family system, and identify
areas of concern and importance for parents and siblings. Te
childs home life and the support available there afect their
quality of life and long-term outcome. Parents may fnd it helpful
meeting other families in similar circumstances and attending
parent support groups.
Adults
People with cerebral palsy are at increased risk of associated:
cognitive and sensory impairments
medical problems (eg dental, dermatological, gastrointes-
tinal, genitourinary, mental health, musculoskeletal, neuro-
logical [including epilepsy], nutritional, respiratory.
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Cerebral palsy 271
Te GP is central to providing and coordinating health care for
adults with cerebral palsy. Proactive anticipatory health care is
essential for timely interventions. Te GPs role includes:
monitoring and managing general and acute health problems
ensuring access to disease prevention (including screening)
and health promotion (including healthy diet, weight and
exercise programs) (see Table 9)
ensuring access to medical specialists, allied health pro-
fessionals and community and disability professionals
being part of the multidisciplinary team helping the person
with cerebral palsy.
Some adults with cerebral palsy have intellectual disability
(varying levels), while others have no cognitive impairment.
Whether or not someone is able to speak is not an accurate
guide to their cognitive function. Te right of all people to be
actively involved in making decisions about their health (to
the extent they are able) is fundamental to good health care.
Te person with cerebral palsy (and their support people, if
appropriate) should take part in any discussion of treatment
goals, management options and priorities for intervention.
Te quality of life for adults with cerebral palsy is related to their
state of health and wellbeing, the support they receive, and their
home and social life. Terefore, managing their health includes:
establishing appropriate communication techniques
performing a full physical, psychological and social assess-
ment every year.
ASSOCIATED IMPAIRMENTS
People with cerebral palsy are likely to experience a range of
associated health problems. Early detection, referral to appro-
priate professionals and efective management are central to
good health care.
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Cerebral palsy 272
Communication
Communication difculties in cerebral palsy include receptive
and expressive language delays and dysarthria. Communication
can be further impaired by fatigue, sedation (eg from drugs
or alcohol), seizure activity, pain, illness and other medical
conditions. Difculty communicating may be a barrier to
accurately identifying, assessing and managing illness. Many
people with cerebral palsy use augmentative communication
devices. It is important that their doctor gives them the time and
opportunity to use these devices. Tis:
ensures the best possible communication between doctor
and patient
avoids the frustration and despair people can feel when they
are not heard or are misunderstood.
Speech pathologists can perform communication assessments,
advise on appropriate devices and give training in their use.
Hearing and vision
Hearing problems and visual disorders (particularly strabismus)
are common in people with cerebral palsy. Tese may remain
undetected, and can impair function, participation and enjoy-
ment of life. All children and adults need their hearing assessed
by an audiologist every 3to 5years. Vision should be assessed by
an ophthalmologist every 3to 5years.
Intellectual disability
Intellectual disability and specifc learning difculties are
commonly associated with cerebral palsy. Approximately 40%of
people with cerebral palsy function in, or below, the range of
mild intellectual disability. Te extent of the persons intellectual
disability does not necessarily correlate with the severity of their
physical disability. People with intellectual disability and those
with specifc learning difculties beneft from formal cognitive
assessment. Such testing identifes areas of cognitive strength
and weakness, and informs those providing support within
educational, vocational or occupational settings.
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Perceptual problems
Perceptual problems are frequent in people with cerebral
palsy. Motor planning difculties, eyehand coordination and
problems of spatial awareness and shape recognition can afect
their organisational abilities and living skills. Occupational
therapists and educational psychologists can provide assessment
and advice.
ASSOCIATED HEALTH PROBLEMS
Te main health problems associated with cerebral palsy are
discussed below.
Chronic lung disease
Some people with severe cerebral palsy develop chronic lung
disease, due to aspiration related to oromotor dysfunction
and/or severe gastro-oesophageal refux. Coughing or choking
during mealtimes, or wheeze during or afer meals, may indicate
aspiration. However, aspiration may be silent, and present as
recurrent pneumonia. Regular surveillance by the GP or medical
specialist is recommended. If eating or swallowing problems are
suspected, assessment by a speech pathologist is helpful. See
further discussion on dysphagia.
Dental health
People with cerebral palsy ofen have oromotor dysfunction,
including chewing and swallowing difculties. Malocclusions are
a common result of this abnormal muscle function. Many people
also have difculty cleaning their teeth efectively. Terefore,
people with cerebral palsy are particularly susceptible to dental
problems. Dental review every 6months is recommended. See
further advice on oral health.
Dermatological problems
Skin problems are frequent in people with cerebral palsy. Buttock
and perineal rashes are common, particularly in people who are
incontinent. Barrier creams may be helpful. Skin breakdown
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Cerebral palsy 274
may also occur in body creases and around gastrostomy sites.
Pressure areas over bony prominences may develop, particularly
in children and adults with poor nutrition. Pressure relieving
devices and/or protective dressings should be considered, with
early involvement of nurses with specifc expertise in continence
and wound management.
Epilepsy
Epilepsy occurs in up to 50% of children, and approximately 20%
of adults, with cerebral palsy. It is most common in people with
severe motor problems, and requires careful management. See
advice on epilepsy (including adverse efects and monitoring of
antiepileptic drugs).
Gastrointestinal disorders
People with cerebral palsy have a range of gastrointestinal
disorders.
Constipation
Children and adults with cerebral palsy ofen develop
constipation. Tis may be due to insufcient dietary fbre and
fuids and a lack of regular physical activity. See advice.
Gastro-oesophageal disease
Gastro-oesophageal refux, oesophagitis and associated pain,
oesophageal bleeding and anaemia are common in people of
all ages with severe cerebral palsy. Upper gastrointestinal tract
bleeding is a common cause of hospitalisation, particularly for
people with both spastic quadriplegia and intellectual disability.
Chronic refux oesophagitis is a signifcant cause of aspiration
pneumonia. Symptoms and signs include pain or distress afer
meals or when lying down, refusal to eat, unpleasant smelling
saliva, night-time waking or distress, anaemia and recurrent
chest infections. Management may include positioning the
person appropriately during (and afer) meals, medication and
antirefux surgery. See discussion of gastro-oesophageal refux
disease.
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Cerebral palsy 275
Nutrition
Nutritional problems, particularly obesity and undernutrition,
are common in people with cerebral palsy. Lack of regular
physical activity and poor dietary habits may cause obesity,
exacerbating arthritis and scoliosis and hindering independent
mobility. Difculty chewing and swallowing (resulting from
oropharyngeal incoordination), dental pain (resulting from
poor oral hygiene), gastro-oesophageal disease and dysphagia
may contribute to undernutrition. Education about a healthy
diet and weight and regular exercise is important for people who
are overweight. Assessment by a dietitian is ofen helpful. People
who are underweight should be assessed by a dietitian and
speech pathologist so the underlying causes can be managed.
Nasogastric or gastrostomy feeds should be considered if the
person with cerebral palsy has:
failure to thrive
excessively long mealtimes
aspiration.
For further advice, see nutritional disorders and dysphagia.
Saliva control
See saliva control.
Genitourinary problems
Urinary incontinence and retention are common in men and
women with cerebral palsy. Contributing factors include:
neurological dysfunction
urinary tract infection
infrequent voiding
difculty accessing the toilet independently
sensory defcits.
Achieving continence (even at a later age than the general
population) benefts the person concerned and those providing
personal care. For children and young people with ongoing
primary enuresis who are dry during the day, the usual treatment
should be considered (including enuresis alarms).
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Cerebral palsy 276
Undescended testes are a common but ofen unrecognised
problem, and boys and men should be examined for this. See
advice on assessing and treating genitourinary disorders.
Mental health
Disorders of mental health are common in people with cerebral
palsy, but can be easily overlooked and remain untreated. Tey
may cause suboptimal performance of academic tasks or self-
care, and undermine quality of life and optimal function and
independence. Adolescents and adults with cerebral palsy
commonly experience frustration, anger, anxiety, despair and/
or depression. Tese feelings may result from:
communication difculties
limited independence
changes in functional ability
social isolation and limited social opportunities
concerns about body image and sexuality.
Disorders of mental health in people who have difculty
communicating their experience may manifest as changes in
behaviour. Antiepileptic drugs and drug interactions may also
lead to behavioural change.
It is important to review the persons current life circumstances,
relationships, opportunities and supports. Referral to a
psychologist (for psychometric testing and/or managing
challenging behaviours) and/or a psychiatrist may be helpful.
Musculoskeletal effects
People with cerebral palsy need lifelong musculoskeletal
management by their physiotherapist, physician (paediatrician
or rehabilitation physician) and orthopaedic surgeon. Terapy,
splinting, medication, botulinum toxin, nerve blocks and various
surgical interventions help to maintain comfort and function
and/or facilitate personal care. Te aims of intervention (ie
therapy, orthotics and surgery) in children are to:
optimise and maintain function
prevent, control or treat dynamic tightness and/or
contractures.
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Cerebral palsy 277
In adults, the aims of management are to:
ensure regular and adequate exercise, to:
maintain range of movement, muscle strength and general
ftness
optimise and maintain function and independence
reduce muscle fatigue and pain.
Physiotherapists have a central role in the care of children with
cerebral palsy. Tey advise on:
positioning, handling and play, to minimise the efects of
development of movement skills
orthoses, footwear and mobility aids
appropriate exercise regimens.
Ongoing physiotherapy for adults is essential, to:
maintain optimal health, comfort and function
monitor for disorders of muscle function
advise on managing pain, contractures and joint dysfunction.
Efective collaboration between the GP, orthopaedic surgeon
and physiotherapist is essential.
Lower limbs
Hip subluxation and dislocation in children with cerebral palsy
must be detected early. Children who are unable to walk or who are
partially ambulant (GMFCS levels IIItoV) are at risk. Hip X-rays
should be performed at regular intervals, as per the Australian
standards of care. Children with evidence of hip subluxation or
dislocation should be referred for orthopaedic opinion.
Flexion contractures at the knee may require hamstring surgery.
Te most common orthopaedic problem in children with cere-
bral palsy is equinus deformity. In young children, toe walking
is best treated conservatively with orthoses and botulinum
toxin type A therapy. Older children beneft from surgery to
correct the deformity.
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Cerebral palsy 278
Some children require surgery at several levels (eg hip, knee
and ankle) to correct deformities and improve the efciency
of walking. Tis is called single event multilevel surgery. Gait
analysis is helpful in planning and evaluating orthopaedic
surgical procedures.
Subluxed or dislocated hips may be present in some adults. Tis
needs to be considered in:
anyone complaining of hip or knee pain
all people with severe cerebral palsy, particularly those
not who do not walk and/or have a reduced range of hip
movement.
Upper limbs
Shoulder subluxations and dislocations may occur in adults with
cerebral palsy, and require treatment. Pain or loss of function in
upper limbs may have a major efect on:
independence in personal care
mobility (for people who use a wheelchair)
communication (for people who use communication aids).
Referral for physiotherapy and occupational therapy is
recommended.
Surgical procedures (eg tenotomies, tendon transplants) are
performed to improve and maintain function of the upper
limbs. To ensure an optimal treatment plan, assessment should
be performed by a multidisciplinary team. Te team should
include an occupational therapist skilled in this area.
Scoliosis
Scoliosis may develop in young children, and ofen gets mark-
edly worse in adolescence. It may lead to increased respiratory
problems (from deformity of the thoracic cage), decreased
mobility and increased joint and muscle pain. Careful attention
to posture is required (including special seating aids) to optimise
comfort and function and minimise deterioration. People
with signifcant postural requirements need advice from an
occupational therapist who specialises in this area.
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Cerebral palsy 279
Surgery is ofen required to prevent further spinal curvature
and its consequences. Management may include spinal fusion,
which is most frequently performed in adolescence.
Spasticity
Management of spasticity can improve the function and
comfort of the person with cerebral palsy and facilitate their
personal care. It requires a team approach involving the person
concerned (and support people if appropriate), therapists and
a physician (paediatrician or rehabilitation physician). Te
expertise of orthopaedic surgeons and/or neurosurgeons may
also be needed.
Focal spasticity can be treated by injecting botulinum toxin
typeA or using nerve blocks.
Generalised spasticity may be treated with oral drugs (diazepam,
dantrolene, baclofen) to:
facilitate personal care (eg ease of dressing and bathing)
inhibit painful muscle spasms
improve function.
Diazepam is an efective antispasticity drug, but may have
adverse efects (particularly drowsiness) if given in doses
sufcient to reduce muscle tone.
Te most common drug used for spasticity is baclofen. It can
cause sedation, and does not cross the bloodbrain barrier well.
Intrathecal administration, using a pump implanted under the
skin, is more efective than oral therapy but is not common. Tis
route is suitable for a few patients with severe spasticity that is
afecting their comfort and quality of life. Intrathecal baclofen
is also occasionally used in people with dystonia, or to improve
function. Negative aspects of this treatment are the:
risk of adverse reactions
cost of the pump
need for frequent medical appointments for pump reflls
need for pump replacement afer about 7years.
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Cerebral palsy 280
Tese aspects should be considered by the person with cerebral
palsy, their family and the treating team before initiating
treatment. Te goals of treatment should be clear.
Another treatment option is selective dorsal rhizotomy, where
anterior spinal roots are sectioned to reduce spasticity. Tis
procedure is irreversible, and appropriate patient selection is
essential for its success.
HEALTH CONCERNS RELATED TO AGEING
People with cerebral palsy have disorders of movement that
put unusual stress on muscles and joints. Over time, this
increased physical wear and tear is associated with muscle
fatigue, weakness, strains and sprains, and joint deterioration and
arthritis. In turn, this can lead to premature decline in physical
function, that may begin in the persons twenties and thirties.
Te associated pain, fatigue and weakness afect independence
and wellbeing.
As people with cerebral palsy get older they are at increased risk
of developing other health conditions related to their motor
function and posture. Tese include:
back pain (particularly in people with scoliosis)
lower respiratory tract infections (particularly in people with
aspiration)
refux oesophagitis (particularly in people with kypho-
scoliosis)
conditions associated with poor peripheral circulation (eg
chilblains, leg ulcers).
People who use a wheelchair need expert attention to their
seating and posture control. Tis is essential for their comfort
and upper limb function, and minimises further deterioration
of their posture.
Continence problems may arise as people age. Treatable causes
(eg constipation, urinary tract infection, irritable bladder)
must be addressed. Decreasing mobility and increasing difculty
accessing the toilet may also contribute to continence problems.
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Cerebral palsy 281
Many aspects of ageing can, and should, be treated. Most are not
inevitable consequences of cerebral palsy.
Practitioners should encourage adults with cerebral palsy to:
have an annual health assessment
maintain a program of physical activity
see a physiotherapist regularly, to monitor motor function
and get advice on physical exercise and mobility aids
see an occupational therapist for advice on postural support,
seating and upper limb function
take part in community programs for physical activity, social
activities and intellectual stimulation
use available home supports and personal care assistance
consider options for spasticity management when needed.
RESOURCES
Cerebral palsy associations provide information and support for
websites.
National body
Cerebral Palsy Australia
New South Wales
Cerebral Palsy Alliance
Queensland
Cerebral Palsy League
South Australia
Novita Childrens Services
scosa (Spastic Centres of South Australia Inc)
Tasmania
Cerebral Palsy Tasmania
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Victoria
Scope
Yooralla
Western Australia
Te Centre for Cerebral Palsy
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Blair E, Stanley FJ. Intrapartum asphyxia: a rare cause of cerebral palsy. J Pediatr 1988;
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Cox D, Weze C, Lewis C. Cerebral palsy and ageing: a systematic review. London: Scope;
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Dobson F, Boyd RN, Parrott J, Nattrass GR, Graham HK. Hip surveillance in children with
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Farhat G, Yamout B, Mikati MA, Demirjian S, Sawaya R, El-Hajj Fuleihan G. Effect of
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disability: the example of gastro-oesophageal reux. Med J Aust 2001;175(2):109-11.
Wynter M, Gibson N, Kentish M, Love SC, Thomason P, Graham HK. Consensus statement
on hip surveillance for children with cerebral palsy: Australian standards of care 2008:
Australasian Academy of Cerebral Palsy and Developmental Medicine (Aus ACPDM); 2008.
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Down syndrome
Australians with Down syndrome are living longer than ever
before. In the 1950s their life expectancy was less than 20years
of age, but it is now 60years. Vigilance in health care is essential
to optimise their physical, mental and social health. Some adults
with Down syndrome need a high degree of support. Others can
live relatively independently, with informal support from family
and friends. Most need a level of support from informal sources
and external agencies.
Trisomy 21 is the most common identifable genetic cause of
intellectual disability. Te additional chromosome21 afects the
development and function of every body system.
Down syndrome occurs in approximately 1 in 800 live births.
Te genetic imbalance is more common as maternal age
increases, reaching 1 in 40 live births in women older than
45years. However, as most babies are born to younger women,
most babies with Down syndrome are born to women younger
than 35years.
People with Down syndrome usually have characteristic facial
features. Tese include almond-shaped eyes, a round-shaped
face and relatively small nose, ears and mouth. Assumptions
are ofen made about their personalities, abilities and potential
on the basis of their physical appearance. However, they are as
diferent from each other as any group in the community. Teir
physical features and personality refect their individuality and
family as well as their Down syndrome.
Many people with Down syndrome are capable of employment
(with varying levels of support), but opportunities to work
may be limited. Adults for whom employment is not suitable
or available require opportunities to participate in social,
recreational, learning and leisure activities. Lack of employment
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Down syndrome 284
or other meaningful activity has negative consequences for the
persons social engagement and mental and physical health.
Teir loneliness, frustration and boredom may be expressed
through their behaviours.
CAUSE
Approximately 95% of people with Down syndrome have
trisomy 21 (ie an extra copy of chromosome 21) in every cell
in their body. Te remaining 5% have either mosaicism or
translocation. In the mosaic form, only some cells have an extra
copy of chromosome21. In translocation, genetic material from
chromosome21 is attached to a diferent chromosome (usually
chromosome14).
In at least 95% of people with trisomy21, the extra chromosome
is from the mother. Te risk of recurrence is no higher than that
associated with maternal age. If either parent has a balanced
translocation of chromosome21 material, the risk of recurrence
is much higher. Terefore, parental karyotype is important for
genetic counselling.
HEALTH CARE
People with Down syndrome tend to have multiple health and
social problems. No one health professional can address all their
needs. A multidisciplinary team (including a general practitioner
[GP], practice nurse and allied health professionals) is required
to monitor health status, address current problems and plan for
future needs.
People with Down syndrome ofen have difculty identifying
and describing their symptoms. Terefore, health surveillance
and care must be proactive. Close collaboration is needed
between the person with Down syndrome, multidisciplinary
team and family or other support people involved in the persons
daily life (where appropriate). Te persons home circumstances
and available support afects their health care. Changes in their
life circumstances also have profound efects on their physical
and mental health.
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Down syndrome 285
General health concerns for people with developmental
disability are discussed in the chapters on children, adolescents,
adults and elderly people.
See discussion of specifc health concerns for people with Down
syndrome. Also see health care for people with Down syndrome
at diferent ages.
People with Down syndrome tend to have lower blood pressures
and lower rates of atherosclerosis than the general population.
Multiple medical problems may lead to people with Down
syndrome using multiple medications, increasing their risk of
adverse efects and interactions. See advice.
Communication and behaviour
Many people with Down syndrome can communicate verbally
without assistance. Others have signifcant difculty with
receptive communication (understanding), consistent with their
cognitive ability. Tis difculty may be compounded by hearing
and/or visual impairment. Expressive communication (being
understood) may also be afected by difculty with articulation,
as a result of anatomical diferences in the oropharynx. Early
hearing impairment may undermine language development and
speech quality. People who have difculty expressing themselves
may communicate their distress or physical or mental illness by
changes in behaviour.
It is essential to include the person with Down syndrome in the
conversation at a consultation, both verbally and nonverbally.
Teir GP can apply simple strategies that greatly improve
communication.
Health promotion
Health promotion is an important aspect of health care for
people with Down syndrome, with particular attention to:
exercise
healthy diet and weight
oral health
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Down syndrome 286
immunisation
screening tests (see Table 9 for recommendations).
For advice, see the chapters on preventive health care, nutrition
and oral health.
SPECIFIC HEALTH CONCERNS
Down syndrome afects the development of every body system.
As a result, people with Down syndrome have an increased risk
for certain health conditions. Tese are discussed below.
Congenital cardiac abnormalities
50% of children with Down syndrome have endocardial cushion
defects. Mitral valve dysfunction can develop at any age,
including during adulthood, and afects 50% of adults. Regular
cardiac examination and/or echocardiography is required.
For advice on whether it is appropriate to give antibiotics
as prophylaxis before surgical and dental procedures, see
eTGcomplete.
Gastrointestinal problems
Congenital anomalies of the gastrointestinal tract are common
in people with Down syndrome, and include oesophageal,
duodenal and anal atresias. Hirschsprung disease is also more
common than in the general population. Tese anomalies and
dysfunction of the gastrointestinal tract may contribute to
chewing/swallowing difculties, gastro-oesophageal refux and
constipation. Poor diet and lack of exercise may contribute to
constipation.
Coeliac disease is more common in people with Down syndrome,
and may cause weight loss and other gastrointestinal symptoms
(eg pain, fatulence).
For advice on managing gastrointestinal problems, see eTG
complete. When treating constipation, a continence nurse may
be helpful.
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Down syndrome 287
Musculoskeletal problems
Joint laxity and hypotonia predispose people with Down syn-
drome to osteoarthritis.
Osteoporosis is more common in adults with Down syndrome,
and increases their risk of pathological fractures. Contributing
factors include:
hypogonadism
use of long-term progestins (in women)
low levels of physical activity.
In people with Down syndrome, bone mineral density should
be measured:
in early adulthood
at menopause in women
at approximately40years of age in hypogonadal men.
Atlantoaxial instability
About 15% of people with Down syndrome have ligamentous
laxity of the atlantoaxial joint on X-ray. However, only 2% of
this group develop symptoms of spinal cord compression. Te
value of routine radiography is controversial, as there is poor
correlation between radiographic fndings and clinical signs and
symptoms.
*
GPs should be alert to possible spinal cord compression in all
children and adults with Down syndrome. Indications include:
neck pain/stifness/torticollis
weakness, tingling or numbness in the legs or arms
a change in gait or a change in function of a leg or an arm
hyperrefexia, upgoing plantar refex
changes in bladder and bowel function.
If cord compression is untreated, permanent paralysis may
result. If it is detected, urgent referral for magnetic resonance
imaging (MRI) and neurosurgical consultation is required.
*
Cohen WI. Current dilemmas in Down syndrome clinical care: celiac disease,
thyroid disorders, and atlanto-axial instability. Am J Med Genet C Semin Med Genet
2006;142C(3):141-8.
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Down syndrome 288
Clinicians should take particular care with procedures that
put unusual stress on the neck of a child or adult with Down
syndrome (universal precautions). Such procedures include
intubation and neck manipulation.
People known to have increased atlantoaxial intervals (more
than 5mm on X-ray), but who do not have symptoms, should
be examined annually by their GP. Arguably they could be
encouraged to avoid high-risk activities likely to put pressure on
the cervical spine (eg contact or high-speed sports, gymnastic
exercises involving extreme neck fexion or extension). People
with atlantoaxial intervals of more than 7mm should be referred
to a neurosurgeon.
Hearing and vision
Compared with the general population, people with Down
syndrome have an increased risk of hearing and vision
impairments developing throughout life. Sensory impairments
undermine their ability to function independently and engage
and participate with others. For recommended monitoring of
hearing and vision in children and adolescents, see Table 18.
Vision and hearing in adults should be:
reviewed annually
tested every 2to 3years or if deterioration is suspected.
Respiratory problems
People with Down syndrome are prone to upper respiratory
tract infections, due to relative underdevelopment of their mid-
face and impaired immunity. Serous otitis media is common in
children aged 1to 5years, and can persist for many years.
Obstructive sleep apnoea is common in people with Down
syndrome of all ages. Contributing factors include low muscle
tone, being overweight, adenotonsillar hypertrophy and
anatomical abnormalities of the oropharynx and tongue. Te
possibility of sleep apnoea should be investigated if the person
has excessive tiredness, snoring, brief cessation of breathing
during sleep or elevated blood pressure.
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Down syndrome 289
Immune system
Te genetic changes in Down syndrome impair the immune
system. People with Down syndrome have an increased risk of
infection (particularly respiratory and skin infections) and some
immune disorders (eg thyroid dysfunction, coeliac disease,
type1 diabetes).
Leukaemia is more common in children and young adults
with Down syndrome. It is rare in older adults, but is still more
common than in the general population.
Transient myelodysplasia and macrocytosis are more common.
Thyroid function
Impaired thyroid function may be present at birth or acquired
at any time. Tyroid function should be tested every year and
whenever there are signs of the thyroid being underactive or
overactive.
Diabetes
Diabetes (type 1 and type 2) is more common in people with
Down syndrome than in the general population. A fasting
plasma glucose concentration should be measured every year.
Epilepsy
Epilepsy is more common in people with Down syndrome than
in the general population. It has peaks of onset in infants and
in young adults. Seizures that occur for the frst time in late
adulthood may relate to the development of Alzheimer disease.
See further discussion of epilepsy.
Fertility
Menarche occurs at the usual time in teenage girls with Down
syndrome and most young women ovulate, although their
fertility is reduced. Most women can manage their menstruation,
independently or with some assistance. Pain and other
premenstrual symptoms may cause an increase in challenging
behaviour.
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Down syndrome 290
Pregnant women with Down syndrome have a higher risk of
premature delivery and of delivering infants with low birth
weight. Other medical problems (eg cardiac abnormalities,
epilepsy) further complicate pregnancy. Women with Down
syndrome should be referred to specialist obstetric services
when they become pregnant.
Boys with Down syndrome undergo puberty at a similar age
to the general population. More than 25% have undescended
testes. Men with Down syndrome are usually infertile, but in a
few cases they have fathered children.
Mental health
People with Down syndrome have a high risk of:
depression and anxiety disorders in adolescence/early
adulthood
Alzheimer disease in later adulthood/old age.
Obsessive compulsive and phobic disorders are also more
common than in the general population. See management of
psychiatric disorders.
Functional decline
Te increasing longevity of people with Down syndrome means
more are experiencing conditions of ageing (eg menopausal
symptoms, arthritis, osteoporosis, sensory loss, dementia). Te
GP has an important role in monitoring their health, to detect
any change in behaviour or function that may indicate:
physical disease
sensory deterioration
an adverse efect of a drug
a psychological or psychiatric disorder.
Loss of skills in an adult with Down syndrome has many causes
that should be excluded before considering dementia.
When an adult with Down syndrome loses skills or abilities,
it should not be assumed their functional decline relates to
dementia. Dementia is rare before the age of 40 years, and
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Down syndrome 291
uncommon before 45 years. Whatever the persons age, all
treatable and reversible causes of skill loss must be considered
(see Table 10).
Te average age of diagnosis of Alzheimer disease in people with
Down syndrome is 50years. See further discussion.
HEALTH CARE AT DIFFERENT AGES
Health care for people with Down syndrome at diferent ages is
discussed in the following text.
Children
Recommended health monitoring for a child with Down
syndrome is listed in Table 18.
Adolescents
Adolescents with Down syndrome have the same health and
social concerns as all adolescents with developmental disability
(see detailed discussion and Table 7). Of particular concern are:
sexuality education (including information about pubertal
changes, sexual expression, safer sexual activity, contra-
ception and fertility)
folliculitis/acne (needs treatment, because it may afect self-
esteem and the way others interact)
mental health disorders (especially an increased risk of
anxiety and depression, see management)
transition from paediatric to adult services.
Girls need education and support to manage their menstruation.
Both girls and boys are vulnerable to sexual exploitation/abuse,
and need education about:
appropriate behaviours (their own, and those of others)
how to keep themselves safe
how to get help if needed.
Adolescents who are not able to advocate for themselves need
adequate protection and supervision, to ensure their safety from
sexual exploitation.
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Down syndrome 292
Table 18. Recommended health monitoring for
children with Down syndrome
Health concern Comment
families link to services and supports, Down syndrome
associations
feeding difculties as
result of hypotonia and
congenital anomalies
link to Down syndrome associations,
breastfeeding associations, dietitians
congenital anomalies perform detailed paediatric examination and
assessment at birth
include specialist cardiac (including
echocardiography), gastrointestinal and
ophthalmological review
respiratory infections
and sleep apnoea
be aware of increased rate/risk of respiratory
infections (including serous otitis media) and
sleep apnoea
hearing perform auditory brainstem evoked response
testing at 0 to 6 months
perform audiology
annually from ages of 1 to 5 years
every 2 years from ages of 5 to 18 years
any time concern about hearing loss raised by
parents, carers or screening
vision perform ophthalmological examination
at 0 to 6 months
annually from ages of 1 to 5 years
every 2 years from ages of 5 to 18 years
any time concern about vision raised by
parents, carers or screening
thyroid check thyroid function
at birth
annually throughout childhood
if suggestive symptoms or signs noted
gonads examine boys for undescended testes
dental/oral health ensure dental review every 3 to 6 months after
primary (baby) teeth appear
consider need for infective endocarditis
prophylaxis for dental treatment (see
eTG complete)
continued next page
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Down syndrome 293
Table 18. Recommended health monitoring for
children with Down syndrome (cont.)
Health concern Comment
gastrointestinal system monitor diet and weight
consider gastro-oesophageal reux disease,
Helicobacter pylori infection, coeliac disease,
constipation
atlantoaxial instability monitor for symptoms and signs of cord
compression
musculoskeletal system consider increased risk of joint subluxation/
dislocation (especially hip) as a result of
hypotonia
haematological/
immunological disorders
be alert to increased risk of infections, leukaemia
Adults
Adults with Down syndrome have the same health care needs
as all adults with developmental disability, including preventive
health. Tey are at high risk of some health conditions. Table 9
is a checklist for health care in adults with developmental
disability, with specifc references to Down syndrome. An annual
health assessment is an important part of proactive health care.
RESOURCES
Down syndrome associations provide information and support
for parents, professionals and other interested people.
websites.
ACT Down Syndrome Association
Telephone (02) 6290 0656
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Down syndrome 294
New South Wales
Down Syndrome NSW
Telephone (02) 9841 4444
Northern Territory
Down Syndrome Association of the Northern Territory
Telephone (08) 8985 6222
Email admin@downsyndroment.com.au
Queensland
Down Syndrome Association of Queensland Inc
Telephone (07) 3356 6655
South Australia
Down Syndrome Society of South Australia Inc
Telephone (08) 8369 1122
Tasmania
Down Syndrome Tasmania
Victoria
Down Syndrome Victoria
Western Australia
Down Syndrome WA
Dental advice for people with disabilities [webpage]. Melbourne: Dental Health Services
Victoria; accessed May 2012.
Understanding intellectual disability and health [website].
Cohen WI. Current dilemmas in Down syndrome clinical care: celiac disease, thyroid
disorders, and atlanto-axial instability. Am J Med Genet C Semin Med Genet 2006;
142C(3):141-8.
Evenhuis H, Henderson CM, Beange H, Lennox N, Chicone B. Healthy aging in adults
with intellectual disabilities: Physical health issues. J Appl Res Intellect Dis 2001;14(3):
175-94.
Torr J, Strydom A, Patti P, Jokinen N. Aging in Down syndrome: morbidity and mortality. J
Policy Pract Intellect Disabil 2010;7(1):70-81.
Tracy J. Australians with Down syndrome: health matters. Aust Fam Physician 2011;
40(4):202-8.
Zachor DA. Down syndrome and celiac disease: a review. Down Syndr Q 2000;5(4):1-5.
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Fetal alcohol syndrome 295
Fetal alcohol syndrome
Fetal alcohol spectrum disorder (FASD) is the umbrella term for
a range of clinically signifcant fetal efects of alcohol. It is not
a clinical diagnosis. Fetal alcohol syndrome (FAS) is the most
easily recognised FASD, due to its characteristic facial features.
Other FASD diagnoses include:
partial fetal alcohol syndrome
alcohol-related neurodevelopmental disorders
alcohol-related birth defects.
Other terms that may be used include fetal alcohol efects (FAE)
and static encephalopathy (alcohol exposed).
Te prevalence of FAS at birth varies between countries, and
between ethnic groups within countries. Data from Western
Australia in 2005 showed an overall prevalence of 0.5in 1000
*
,
but it was 100 times higher in Aboriginal children.
Overseas
estimates and recent research indicate that these fgures are
probably an underestimate.
CAUSE
Prenatal alcohol exposure increases the risk to the fetus
throughout pregnancy. Tere is no safe time for a pregnant
woman to consume alcohol. However, not all children exposed
to alcohol in utero are afected, or are afected to the same extent.
FAS occurs when the child is exposed to alcohol during the frst
8weeks of embryogenesis.
*
Bower C, Rudy E, Callaghan A, Quick J, Cosgrove P, Nassar N. Report of the birth
defects registry of Western Australia 19802008. Subiaco, WA: King Edward Memorial
Hospital; 2009.

Bower C, Silva D, Henderson TR, Ryan A, Rudy E. Ascertainment of birth defects:
the effect on completeness of adding a new source of data. J Paediatr Child Health
2000;36(6):5746.
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Te mothers alcohol consumption may be:
chronic heavy daily
frequent heavy intermittent (at least 5drinks per occasion at
least once a week [ie binge drinking]).
Exposure to alcohol later in pregnancy may afect prenatal and
postnatal growth and cause neurodevelopmental disorders. Low
levels of prenatal alcohol exposure appear to be low risk. However,
a safe threshold of prenatal alcohol consumption has not been
established. Research indicates the risk increases with 3 to 4
standard drinks per occasion, consumed once or twice a week.
Te risk of FAS is increased by factors related to:
genetics
low socioeconomic status (eg environmental pollutants, poor
nutrition, smoking, psychological stress, physical abuse).
FAS is more common in some minority racial groups, but
there is no evidence this is due to biological factorsdrinking
patterns, quantity of alcohol consumed and factors relating to
low socioeconomic status are thought to contribute. An older
maternal age (30 years and over) has also been associated
with increased risk of FAS in the child. However, this may be
confounded by drinking alcohol for longer, rather than being an
efect of age per se.
DIAGNOSIS
Tree key features are present in FAS:
growth retardation:
height and/or weight are lower than normal (at or below
the 10th percentile)
characteristic facial features:
smooth ridge between the nose and upper lip
thin upper lip
short distance between the inner and outer corners of the
eyes, giving the eyes a wide-spaced appearance
central nervous system anomalies or dysfunction:
structural (eg head smaller than normal, structural
changes on brain scans)
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neurologic (eg poor coordination, poor muscle control)
functional (eg signifcant developmental delay or low
IQ; problems with executive functions, motor function,
attention, social skills).
If a person has abnormalities in each of these key features, most
other syndromes can be excluded.
Diagnostic features can change with age. Facial features are easiest
to distinguish during infancy and early preschool years, but a
characteristic dysmorphic pattern continues into adolescence.
FAS causes difculties in many areas of executive functioning
and social skills, and these may be present in early childhood.
Problems in central nervous system function ofen lead to
maladaptive behaviour and psychiatric disorders.
Prenatal alcohol exposure can have a negative efect on the
central nervous system without producing the characteristic
facial features of FAS. Tis is classifed as alcohol-related
neurodevelopmental disorder (ARND).
*
ARND includes a
range of disabilities, such as:
problems in behaviour, emotion, self-regulation and mood
poor motor, adaptive and executive functioning.
MANAGEMENT
One aspect of managing FAS is its prevention, and the other is
caring for the person who has it. Once a mother has a child with
FASD, it is likely that subsequent ofspring will be afected unless
the mother abstains from alcohol.
Prevention
Preventing FASD requires:
early identifcation of women who drink during pregnancy:
a helpful questionnaire is the WHO Alcohol Use Disorders
Identifcation Test (AUDIT)
GPs can use the short AUDIT-C (3 questions) initially,
then complete the full AUDIT (10questions) if required
*
A consensus statement [217KB] on recognising alcohol-related neurodevelopmental
disorder (ARND) in primary health care of children has been released by the Interagency
Coordinating Committee on Fetal Alcohol Spectrum Disorders.
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the T-ACE questionnaire can be used to identify alcohol
dependence
intervention to help pregnant women to stop drinking alcohol
or, when this is not possible, to help them to drink less
intervention to prevent further alcohol-exposed pregnancies
(eg reduce harmful alcohol consumption by nonpregnant
women of childbearing age, promote efective use of
contraception by women who continue to drink heavily)
referral to appropriate alcohol services (to modify maternal
drinking behaviour) and supportive social services.
Te National Health and Medical Research Council Australian
guidelines state For women who are pregnant or planning a
pregnancy, not drinking is the safest option.
Caring for people with fetal alcohol spectrum
disorder
Early diagnosis of FASD is important, enabling early intervention
and prevention of secondary disabilities.
When a child is suspected of having a FASD, their management
involves:
confrming the diagnosis with a paediatrician
monitoring:
growth and development
hearing (sensorineural and conductive)
behaviour and mental health
referring for early intervention for identifed problems,
preferably to services with expertise in FASD (there is
limited scientifc evidence for specifc interventions, but
some evidence supports training in social skills and attention
processes)
preventing secondary disabilities (eg unemployment,
inappropriate sexual behaviour, criminal activity, disrupted
schooling)
supporting the childs family (eg promoting a stable home
environment, advising parents on strategies to promote child
and family functioning and manage problem behaviours).
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RESOURCES
Te following websites have information on preventing, diag-
nosing and managing FASD.
websites.
Fetal Alcohol Spectrum Disorder Model of Care
Western Australia Department of Health
National Organisation for Fetal Alcohol Syndrome and
Related Disorders (NOFASARD)
Telethon Institute for Child Health Research
Perth, Western Australia
Astley SJ, Clarren SK. Diagnosing the full spectrum of fetal alcohol-exposed individuals:
introducing the 4-digit diagnostic code. Alcohol Alcohol 2000;35(4):400-10.
Bower C, Rudy E, Callaghan A, Quick J, Cosgrove P, Nassar N. Report of the birth defects
registry of Western Australia 1980-2008. Subiaco, WA: King Edward Memorial Hospital;
2009.
Bower C, Silva D, Henderson TR, Ryan A, Rudy E. Ascertainment of birth defects: the effect
on completeness of adding a new source of data. J Paediatr Child Health 2000;36(6):
574-6.
Chang G. Alcohol-screening instruments for pregnant women. Alcohol Res Health 2001;
25(3):204-9.
Chudley AE, Conry J, Cook JL, Loock C, Rosales T, LeBlanc N. Fetal alcohol spectrum
disorder: Canadian guidelines for diagnosis. CMAJ 2005;172(5 Suppl):S1-S21.
Floyd RL, Sobell M, Velasquez MM, Ingersoll K, Nettleman M, Sobell L, et al. Preventing
alcohol-exposed pregnancies: a randomized controlled trial. Am J Prev Med 2007;32(1):
1-10.
Interagency Coordinating Committee on Fetal Alcohol Spectrum Disorders (ICCFASD).
Consensus statement on recognizing alcohol-related neurodevelopmental disorder in
primary health care of children. Rockville, MD: ICCFASD; 2011. [217KB]
May PA, Gossage JP, Kalberg WO, Robinson LK, Buckley D, Manning M, et al. Prevalence
and epidemiologic characteristics of FASD from various research methods with an
emphasis on recent in-school studies. Dev Disabil Res Rev 2009;15(3):176-92.
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National Health and Medical Research Council. Australian guidelines to reduce health risks
from drinking alcohol. Canberra: NHMRC; 2009.
OLeary CM, Bower C. Guidelines for pregnancy: Whats an acceptable risk, and how is the
evidence (nally) shaping up? Drug Alcohol Rev 2011;31(2):170-83.
Streissguth AP, Bookstein FL, Barr HM, Sampson PD, OMalley K, Young JK. Risk factors
for adverse life outcomes in fetal alcohol syndrome and fetal alcohol effects. J Dev Behav
Pediatr 2004;25(4):228-38.
Western Australian Department of Health. Fetal alcohol spectrum disorder model of care.
Perth: Health Networks Branch, Department of Health; 2010.
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Fragile X syndrome 301
Fragile X syndrome
Fragile X syndrome is the most common known inherited cause
of developmental disability. It has a range of presentations, and
has developmental, physical, behavioural and emotional efects.
Although caused by a mutation on the X chromosome, it has
signifcant clinical efects in males and females.
CAUSE
Fragile X syndrome results from a mutation at the fragile X
mental retardation 1 (FMR1) gene on the long arm of the
X chromosome. When cultured in a folate-free medium, the
afected site has a gap on karyotyping and looks pinched or
fragile.
Te FMR1 gene makes a protein, FMR1 protein (FMRP).
FMRPs function is important for normal neurological develop-
ment. Most people have a normal trinucleotide (cytosine-
guanine-guanine [CGG]) repeat sequence of 6 to 45, with an
average of 30repeats. Te mutation is an expansion in the size
of this repeating sequence. Expansion only occurs when the
FMR1 gene is passed to a female fetus. When there are more
than 200 nucleotide repeats (known as a full mutation), the
FMR1 gene methylates and switches of production of FMRP.
People with a smaller expansion of 50to200 nucleotide repeats
are said to have a premutation.
Fragile X syndrome occurs in approximately 1in3600 people in
the general population. Te premutation is more commonit
occurs in approximately 1in130 to 1in250 females and 1in250
to 1in800 males.
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Pattern of inheritance
Both males and females can pass the premutation or full
mutation for fragile X syndrome on to their children.
A woman with fragile X syndrome full mutation has a 50%
chance of passing this on to her son or daughter.
A woman with fragile X syndrome premutation also has a
50% chance of passing the gene on to her son or daughter.
Te risk of the gene expanding to a full mutation is 50%
overall, and increases with the number of repeats.
A man with fragile X syndrome premutation passes it on
to his daughters without it changing in size. His sons only
receive his Ychromosome, so cant inherit the gene.
A person identifed to have fragile X syndrome has inherited it
from their mother. Te mother carries either a premutation or
a full mutation. Many people from the extended family across
generations are likely to carry the gene and may be afected.
However, in at least 30% of new cases of fragile X syndrome
there is no known family history.
PRESENTATION
Typical features of fragile X syndrome vary in severity, and may
not always be present (see the guidelines for testing).
Full mutation of the fragile X gene
Te full mutation of the fragile X gene has developmental,
physical, behavioural and emotional efects on a person.
Females may appear less afected than males, because one of
their Xchromosomes is normal.
Developmental effects
Children with fragile X syndrome ofen appear normal, and at
an early age their developmental delay may only be mild. Tis
means diagnosis is ofen delayed.
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Fragile X syndrome can result in:
intellectual disability (IQ less than70):
afecting most males and 30% to 50% of females
ranging from mild to severe, with most people in the mild
to moderate range
global developmental delay, including:
speech, language and communication difculties
poor fne and gross motor coordination
specifc learning difculties.
Behavioural and emotional characteristics
Te physical and developmental signs of fragile X syndrome
may be subtle or overlooked. As a result, the behavioural
and emotional phenotype of fragile X syndrome is ofen the
presenting feature. Tis includes:
anxiety and associated disorders (prominent; includes
panic disorder, social anxiety disorder, generalised anxiety
disorder)
attention defcit hyperactivity disorder (ADHD)
autism spectrum disorder (30% of people):
includes social avoidance and anxiety (see above), poor
eye contact/gaze aversion, resistance to change, stereotypic
behaviours, distinctive hand mannerisms (hand- and
wrist-biting, hand-fapping), preoccupation with objects,
echolalia, sensory defensiveness (aversion to touch, loud
noises, bright lights and strong smells)
mood disorders (eg tendency to outbursts of anger and
aggression, especially in postpubertal males).
Physical characteristics
Up to 80% of males and some females with fragile X syndrome
have large or prominent ears, a long face and/or macro-
orchidism. In addition to a long face, afected people may have
a high broad forehead, high arched palate and protruding lower
jaw (mandibular prognathism). Te facial features may be less
prominent in women, particularly those without intellectual
disability.
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Medical conditions
Up to 20% of people with fragile X syndrome have epilepsy
(usually tonic-clonic or complex partial seizures).
An elastin disorder associated with fragile X syndrome is
thought to explain:
vision problems (strabismus, errors of refraction)
recurrent ear infections
heart problems (mitral valve prolapse, aortic root dilation)
orthopaedic problems (particularly fat feet [pes planus],
hyperextensible joints, sunken chest [pectus excavatum],
scoliosis, congenital hip dislocation).
Premutation of the fragile X gene (fragile X
syndrome carriers)
People who carry the premutation for fragile X syndrome
generally have a normal IQ. However, some display characteristics
of the full mutation in a milder version, including physical
features (eg large ears) and hand-fapping. Other presenting
problems include learning difculties, ADHD, autism spectrum
disorder, executive function defcits and anxiety and mood
disorders. Te practitioner should enquire about these features.
Approximately 20% of females carrying the premutation for
fragile X syndrome have been shown to have fragile X premature
ovarian insufciency (FXPOI). Tis is much higher than the
incidence in the general population (1% of females). It may be
signifcant for females who want to have children. In addition
to receiving genetic counselling, they may need counselling on
other topics, such as whether to:
start their families at a younger age
use in vitro fertilisation technologies.
Fragile X tremor ataxia syndrome (FXTAS) is a degenerative
neurological disorder described in older people with the
premutation. It has been shown in approximately 40% of ageing
male carriers and 8% to 16% of female carriers older than
50 years. Suspicions may be raised when any person over the
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age of 50 years presents with tremor, ataxia, cognitive decline
and deterioration similar to Parkinsons disease. Appropriate
management is to:
ask if they have a family history of fragile X syndrome or
developmental delay
refer them for neurological opinion, regardless of their family
history.
Magnetic resonance imaging may confrm typical brain lesions
in the middle cerebellar peduncles and adjacent white matter.
Pharmacological management can help.
TESTING
Testing for fragile X syndrome using DNA studies is sensitive
and specifc. It also reliably detects carriers of the premutation.
Te request should specify DNA studies for fragile X syn-
drome. General practitioners (GPs) can refer the person with
suspected fragile X syndrome directly or via a specialist for
testing.
DNA studies are necessary to conrm a diagnosis of fragile X
syndrome.
Occasionally, people with other syndromes or disabilities
(eg Down syndrome, cerebral palsy, Pierre Robin syndrome,
Prader-Willi syndrome) have concomitant fragile X syndrome.
If there is reason to suspect this, the person should be tested for
fragile X.
Chromosome analysis by karyotyping has largely been
superseded by comparative genomic hybridisation (CGH)
array (genome-wide microarray). CGH array detects almost
all known genetic causes of developmental delay, with the
exception of fragile X syndrome. Requests for both genome-
wide microarray and DNA studies for fragile X syndrome are
needed when investigating developmental delay.
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Who should be tested for fragile X syndrome?
International guidelines suggest any person with signifcant
developmental delay should be tested for fragile X syndrome.
*

Te Human Genetics Society Of Australasia recommend fragile
X testing for people with:
intelligence problems (ranging from learning disabilities to
severe intellectual disability)
social and emotional problems (eg aggression, shyness)
autism spectrum disorder
ADHD
developmental delay
speech and language problems
clinical indications suggesting fragile X premature ovarian
insufciency (FXPOI)
clinical indications suggesting fragile X tremor ataxia syn-
drome (FXTAS)
family history of a fragile X premutation or full mutation.
Specifc Medicare items may apply for fragile X testing.
Antenatal screening for fragile X is being performed more
frequently. Pregnant women and women planning to become
pregnant can be ofered testing if they have cause for concern.
Tis may be followed by referral for genetic counselling, if
needed.
Detecting fragile X syndrome allows families to make informed
decisions about family planning.
If a person tests positive for the fragile X mutation or premutation,
other family members may be afected. Teir family should be
referred for genetic counselling. Tis is important, to allow
families to make informed decisions about family planning. If
the afected person is male, genetic testing focuses on his mother
and her relatives. Nonafected brothers may carry premutations.
It is more common for the premutation to have been inherited
from the maternal grandfather than the maternal grandmother.
*
Sherman S, Pletcher BA, Driscoll DA. Fragile X syndrome: diagnostic and carrier testing.
Genet Med 2005;7(8):5847.
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Following up family members for testing is known as cascade
testing. Tis needs to be done assiduously, and the family GP
can ensure it happens.
MANAGEMENT
Managing a person with fragile X syndrome involves supporting
the family, coordinating appropriate interventions, and being
alert to conditions that are associated with this syndrome.
Family support and information
See advice on informing parents of their childs disability
(whatever the age of their child). An important part of the
clinicians role is to ofer hope and a positive outlook. All people
have a valuable place in society. People with fragile X syndrome
have many strengths that need to be recognised. Families
cope better when given sufcient information and support. In
addition to genetic counselling, they may need grief and anger
counselling.
Te demands and stresses on the family of a person with fragile X
syndrome can be great, especially if the person has problem
behaviours. Families should be treated with an understanding
of the difculties they may face. Tey should also be respected
for their ability to manage what may be an extremely difcult
situation.
Te family may need help from a community or social worker:
for personal support
to access fnancial assistance (eg applying for pensions and
disability allowances).
Information on fragile X syndrome may be obtained from
genetic counsellors and developmental paediatricians. A range
of medical and educational resources for parents and pro-
fessionals is available.
Intervention
Specifc treatment and intervention strategies (eg educational,
behavioural, pharmacological, medical) are available for people
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with fragile X syndrome. Applying these strategies involves
multiple professionals and parents and other support people.
Early intervention is essential for an optimal outcome for
children with fragile X syndrome. Although most males and
some females require lifelong supervision, many people achieve
functional life skills.
Te GP can ensure that people with fragile X syndrome
are referred for appropriate assessment, intervention and
management. It is essential to refer these people to practitioners
familiar with managing fragile X syndrome. Efective
management may include speech and language therapy, special
education, occupational therapy and clinical and educational
psychology. Referral to a developmental paediatrician and/or a
psychiatric unit may also be appropriate.
See general advice on managing a child with developmental
disability (including services for the child and family).
Conditions associated with fragile X syndrome
A range of conditions is associated with fragile X syndrome,
including:
anxiety and hyperarousal
sensory defensiveness
attention problems
autism spectrum disorder
aggression and mood disorders
epilepsy and seizure disorders
connective tissue disorders.
Regular review is recommended to detect and manage them.
Medical practitioners can coordinate pharmacological and
behavioural management.
With appropriate use of medications, the child with fragile X
syndrome can remain within their community. Tere are no
controlled studies on using psychotropic drugs in the fragile X
syndrome population. However, these drugs are widely used,
and some less rigorous studies support their use.
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Anxiety and hyperarousal
Anxiety and hyperarousal are major features of fragile X
syndrome. People with fragile X syndrome ofen satisfy the
DSM-IV criteria for diagnosis of anxiety and associated disorders
(eg generalised anxiety, panic and social phobia disorders).
Treatment for the behavioural components of hyperarousal
includes a sensory diet, visual cues to transitions or change, and
appropriate distractors. Most people respond well to:
selective serotonin reuptake inhibitors
serotonin and noradrenaline reuptake inhibitors
second-generation antipsychotic drugs
clonidine
carbamazepine and sodium valproate (for their efect on
mood).
For further information on these drugs, see eTGcomplete.
Sensory defensiveness
Sensory defensiveness is an overly sensitive response to touch,
smell, sound, sight and taste. Tis leads to hyperarousal. Sensory
defensiveness in a person with fragile X syndrome needs
behavioural management. Otherwise, it may interfere with their
ability to take part in learning or social situations. Occupational
therapists can develop a sensory diet (eg appropriate stimulatory
or calming activities) for the person, to modify their responses
to sensory overload. Te aim of therapy is for the person to have
strategies for responding to the changes and challenges of daily
living.
Attention problems
Te clinician should formally assess the person with fragile X
syndrome for attention disorders (with or without hyperactivity),
as these are common. Behavioural management includes a
sensory diet. It works best in conjunction with drug therapy.
Treatment with dexamphetamine or methylphenidate (see eTG
complete) can be of great beneft, and results in improvement in
60%to 80% of people.
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Aggression or agitation
Aggression or agitation in people with fragile X syndrome tends
to be more common afer the onset of puberty, and requires
behavioural intervention (see the chapter on assessing and
managing challenging behaviour. Pharmacological intervention
is also useful. Aggressive behaviour is almost always associated
with underlying anxiety and hyperarousal, and usually follows a
triggering event.
Epilepsy and seizure disorders
Epilepsy and seizure disorders are commonly associated with
fragile X syndrome. For diagnosis and treatment, see the chapter
on epilepsy and eTG complete. Carbamazepine or sodium
valproate are ofen used in fragileX syndrome, perhaps because
of their additional efect on behaviour.
Mood disorders
Mood disorders occur in people with fragile X syndrome,
especially afer the onset of puberty. Depression may develop as
the person gains insight into their condition, or independently
of this. For advice on treatment, see mood disorders and
eTGcomplete.
SCHOOLING
Education is one of a childs most important needs. Good
educational outcomes can be achieved for children with fragile X
syndrome. Ideally the child attends a mainstream school and
interacts with their peers, while following their own (modifed)
syllabus. Regular meetings between educators, parents and
all others involved in the childs care are necessary, to defne
appropriate goals and monitor progress.
Te academic difculties of people with fragile X syndrome are
due to:
poor short-term memory
difculty with auditory processing
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difculty with abstract concepts
poor attention span
difculty with initiation.
At the same time, these people have many strengths (see below).
Tese can be used to optimise their learning and the acquisition
of life skills.
MAXIMISING STRENGTHS
People with fragile X syndrome generally exhibit many strengths,
such as:
a marvellous sense of humour
a socially engaging nature
strong imitation skills
excellent visual skills and visual memory
intense interests.
People with fragile X syndrome are strong visual learners who do
well with pictures and logos. In particular, they learn well using
interactive multimedia computer programs. Teir imitation
skills and good long-term memory are put to advantage in
drama. Tey perform best with concrete relevant tasks (eg
shopping, cooking).
In general, people with fragile X syndrome thrive in an
environment that:
is highly structured and follows routines
prepares them for any changes in routine or environment
has written and visual schedules for the days activities
has minimal auditory and visual distractions
uses maximum visual input (eg pictures, drama)
uses calculators and computers (with interactive multimedia)
as teaching tools.
RESOURCES
Fragile X organisations provide information and support for
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websites.
Fragile X Alliance Inc
Telephone (03) 9528 1910
Te Fragile X Association of Australia
National Fragile X Foundation (USA)
Another source of information is Genetics in family medicine:
the Australian handbook for general practitioners. [Canberra]:
Biotechnology Australia; 2007 (see section on fragile X syn-
drome and other causes of developmental delay).
Braden M. Fragile - handle with care. Revised ed. Colorado Springs: Spectra Publishing
Co. Inc; 2000.
Chonchaiya W, Schneider A, Hagerman RJ. Fragile X: a family of disorders. Adv Pediatr
2009;56:165-86.
Genetics Education in Medicine (GEM) Consortium. Fragile X syndrome and other causes
of developmental delay. In: Genetics in family medicine: the Australian handbook for
general practitioners. [Canberra]: Biotechnology Australia; 2007.
Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, et al.
Advances in the treatment of fragile X syndrome. Pediatrics 2009;123(1):378-90.
Hagerman RJ, Hagerman PJ, editors. Fragile X syndrome: Diagnosis, treatment and
research. 3rd ed. Baltimore (MD): John Hopkins University Press; 2002.
Hersh JH, Saul RA. Health supervision for children with fragile X syndrome. Pediatrics
2011;127(5):994-1006.
Human Genetics Society of Australasia. Best practice fragile X testing and analysis guide-
lines for Australasian laboratories. Sydney: HGSA; 2012. [250 KB]
Metcalfe S, Cohen J. Fragile X syndrome: clinical and molecular aspects. Version 2. [CD
ROM]. [Parkville]: University of Melbourne and Murdoch Childrens Research Institute;
2009.
Nunn KP, Dey C, editors. The clinicians guide to psychotropic prescribing children and
adolescents. Newcastle, NSW: Child & Adolescent Mental Health Statewide Network
CAMHSNET; 2003.
Sherman S, Pletcher BA, Driscoll DA. Fragile X syndrome: diagnostic and carrier testing.
Genet Med 2005;7(8):584-7.
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Sherman SL. Premature ovarian failure in the fragile X syndrome. Am J Med Genet 2000;
97(3):189-94.
Tranfaglia MR. A medication guide for fragile X syndrome. 4th ed. Newburyport (MA):
FRAXA Research Foundation; 2009.
Wang LW, Berry-Kravis E, Hagerman RJ. Fragile X: leading the way for targeted treatments
in autism. Neurother 2010;7(3):264-74.
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Neurobromatosis type 1 314
Neurobromatosis type 1
Neurofbromatosis type 1 (NF1) is a tumour predisposition
syndrome with an estimated frequency of about 1 in 3000.
Inheritance is autosomal dominant. NF1 is classifed as a
neurocutaneous disorder. However, it has many clinical
manifestations that can afect most organs of the body, including
the skin, eyes and bony skeleton. Most symptoms of NF1
arise from local pressure exerted by nonmalignant tumours
(neurofbromas), particularly in the central and peripheral
nervous systems.
Common clinical features include:
multiple caf au lait spots (nearly all patients)
axillary and inguinal freckling (80% of patients)
multiple cutaneous and subcutaneous neurofbromas (more
than 95% of patients by adulthood)
superfcial and internal plexiform neurofbromas (50% of
patients)
benign iris hamartomas (Lisch nodules; nearly all patients
older than 20years).
Learning disabilities are common (up to 50% of patients), and
range from subtle to severe. Children with neurofbromatosis are
at increased risk of attention defcit disordersabout40% have
attention defcit hyperactivity disorder (ADHD). See further
discussion of the clinical features of NF1.
Neurofbromatosis type2 (NF2) is also a tumour predisposition
disorder with autosomal dominant inheritance, but its genetic
basis is diferent from NF1. It is characterised by bilateral
vestibular schwannomas (acoustic neuromas) and other tumours
of the central and peripheral nervous systems (including
schwannomas and meningiomas). It is much rarer than NF1
(frequency about 1in 30000), and is not described further.
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CAUSE
NF1 arises from autosomal dominant mutations within the
NF1 gene. Tese mutations may be inherited from an afected
parent (about 50% of patients) or due to a new dominant
(sporadic) mutation (about 50% of patients). Te NF1 gene
encodes neurofbromin, an important regulator of cell growth
and diferentiation through the rasMAPK pathway.
DIAGNOSIS
Diagnosis of NF1 is based on clinical fndings, using criteria
established by the National Institutes of Health. Te main dis-
ease manifestations of NF1 (ie caf au lait spots, axillary
freckling, neurofbromas, Lisch nodules) occur in most patients.
Tey are invaluable for making or excluding the diagnosis. In
people older than 5years, if all the main disease manifestations
are absent on screening, a diagnosis of NF1 can be excluded
with more than95% certainty. Te level of certainty is higher for
adults. Tis clinical screening protocol is important for:
excluding or establishing the diagnosis in parents of afected
children
enabling genetic counselling on the risk of NF1 recurring in
a family.
Sometimes patients have features of NF1 in only one part of the
body. Tis is segmental neurofbromatosis. It is probably due to
mosaicism for an NF1gene mutation in a subset of cells or tissues.
Molecular genetic testing is rarely necessary for diagnosing NF1,
since the clinical criteria are sensitive and specifc. Identifying
the NF1gene mutation afer the clinical diagnosis can be useful
for prenatal testing.
CHARACTERISTICS
Te most common features of NF1 are changes in skin pigment
(ie caf au lait spots, axillary and inguinal freckling). Tese ofen
bring the patient to medical attention and diagnosis. Once the
diagnosis is made, patients need regular review to monitor for
possible disease complications.
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NF1 is a multisystem disorder and has many complications.
Te more common complications (eg plexiform neurofbromas,
learning disability, optic gliomas, scoliosis) occur in 15%to 50%
of patients. Te more rare complications usually afect fewer
than5% of patients with NF1, but cumulatively cause signifcant
morbidity. NF1 ranges widely in severity. About 40%of people
with NF1 will have medical problems related to the disorder at
some time during their life.
Tumours
Benign neurofbromas may afect almost any organ in the body.
Adults with NF1 usually have numerous benign cutaneous
neurofbromas and Lisch nodules.
Superfcial or internal plexiform neurofbromas are congenital.
Tey occur in about 50% of patients, but usually only half of
them are obvious on clinical examination. Superfcial plexiform
neurofbromas may cause disfgurement. Tose that may
become cosmetically disfguring are usually evident by the
age of 2 years. Parents can be reassured that their child is at
low risk of disfgurement if no such lesions are evident by this
age. Internal tumours can compromise function by exerting
pressure on internal nerves or organs. Plexiform neurofbromas
(but not cutaneous neurofbromas) may undergo malignant
transformation in adults. Tis may be heralded by rapid growth,
pain or a focal neurological defcit.
Te main ocular complications of NF1 are optic gliomas, which
occur in 15% of patients and are symptomatic in 5% to 7%.
Tey may cause decreased visual acuity and/or hypothalamic
dysfunction and precocious puberty. Increased height velocity
may be an early sign of precocious puberty. Te risk of optic
pathway tumours is highest in children younger than 6years.
Other associated conditions
Skeletal manifestations of NF1 include:
congenital pseudoarthrosis (which is usually evident once
the child is weight-bearing)
scoliosis (which may be associated with vertebral dysplasia).
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Te frequency of elevated blood pressure increases with
age in people with NF1. In most cases no specifc cause is
found. A minority of patients have renal artery stenosis or
phaeochromocytoma associated with NF1these conditions
need to be excluded. Structural cardiac complications of NF1
are rare, and include pulmonary valvular stenosis.
Other medical concerns in people with NF1 include
vasculopathy, intracranial tumours and malignant peripheral
nerve sheath tumours (MPNST). Tey increase in frequency
with age. MPNST are rare in the general population, but afect
5.9% to 15% of people with NF1. Te onset of malignancy is
highest between the ages of 20and 35years.
Many adults with NF1 experience pain, particularly back pain
and headaches. Pain should be investigated to:
look for an underlying cause
exclude pressure efects from a tumour or malignant
transformation.
Patients ofen beneft from referral to a pain management team,
since nerve pain does not ofen respond to standard analgesia.
Anxiety and depression are more common in patients with NF1,
and need to be actively managed as for the general population
(see eTGcomplete).
MANAGEMENT
Te mainstays of care for patients with NF1 are anticipatory
guidance and early detection and symptomatic treatment of
disease complications. Tis is achieved through regular medical
review, at least once a year for children younger than 18years,
and every second year for adults. Review should be more
frequent if the patient has active medical complications.
Patients with NF1 receive optimal care if they see the same
clinician regularly, and if that clinician has expertise in disease
surveillance for NF1. In Australia, children with NF1 are usually
managed in a clinic at a childrens hospital by a neurologist
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or geneticist, in conjunction with a general paediatrician. For
adults, their general practitioner (GP) is ofen the primary
coordinating clinician. Te GP should refer them to a relevant
specialist if new problems arise.
Genetic counselling
When a diagnosis of NF1 is made, a family history of NF1
should be sought. All available frst-degree relatives should
be screened (by skin and slit lamp examination) to determine
whether the case is familial or sporadic. Afected families should
be seen by a genetics counsellor or a clinical geneticist, to discuss
recurrence risk and options for prenatal diagnosis. Most women
with NF1 have normal pregnancies. Te number and size of
their cutaneous neurofbromas may increase during pregnancy.
When one parent has NF1, each pregnancy has a 50% risk of an
afected child. Te disorder does not run true within the family,
and a mildly afected parent can have a severely afected child. It
is not possible to predict the severity of a persons disease.
Regular medical review
Each regular medical review of a person with NF1 should
include:
a medical history, with a focus on symptoms associated with
NF1 (eg pain, visual complaints, progressive neurological
defcits, seizures, headaches)
physical examination (especially cutaneous, skeletal and
neurological systems):
manifestations of NF1 diagnostic criteria
other medical complications associated with NF1 (eg
elevated blood pressure, scoliosis, focal neurological
defcits, visual loss or feld defects, short stature, signs of
precocious puberty)
ophthalmological evaluation (including slit lamp examin-
ation of the irises):
at least once a year for all children with NF1, up to the age
of 12years
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detailed developmental assessment (if the patient is a child):
yearly review should include a developmental history and
review of school progress
if any areas of concern are identifed, a formal educational
assessment is indicated
other investigations, as dictated by the fndings on history
and clinical examination:
routine screening with magnetic resonance imaging
(MRI) or audiology is not indicated
new or worsening pain should be investigated by imaging
(MRI+/positron emission tomography [PET] scan).
Natural history of neurobromatosis type 1
Input from specialist clinicians familiar with NF1 is helpful
when interpreting neuroimages (eg MRIs) from patients. Tis is
especially so when considering the need for medical or surgical
intervention. For example, even when optic nerve tumours are
detected in patients with NF1, 50% of patients do not develop
symptoms. Furthermore, symptomatic optic nerve lesions are
usually stable for many years, or only progress slowly. Some
lesions may even regress spontaneously.
Discussion of the risk of disease complications with a patient
or parent of a child with NF1 can be helpful. It ofen relieves
unwarranted anxiety, and gives the patient or parent some
perspective on the disorder. As part of this discussion, the risk
of complications at diferent ages is important. For example, a
child aged 10 years is unlikely to develop signifcant cosmetic
disfgurement from a plexiform neurofbroma, or visual loss
from an optic glioma. However, their spine must be closely
watched during puberty for evidence of scoliosis, and cutaneous
neurofbromas are likely to appear during adolescence.
RESOURCES
Te following organisations provide information on neuro-
fbromatosis.
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websites.
NF Australia
Childrens Tumor Foundation (USA)
Creange A, Zeller J, Rostaing-Rigattieri S, Brugieres P, Degos JD, Revuz J, et al. Neurological
complications of neurobromatosis type 1 in adulthood. Brain 1999;122 (Pt 3):473-81.
DeBella K, Szudek J, Friedman JM. Use of the National Institutes of Health criteria for
diagnosis of neurobromatosis 1 in children. Pediatrics 2000;105(3 Pt 1):608-14.
Duong TA, Sbidian E, Valeyrie-Allanore L, Vialette C, Ferkal S, Hadj-Rabia S, et al. Mortality
associated with neurobromatosis 1: a cohort study of 1895 patients in 1980-2006 in
France. Orphanet J Rare Dis 2011;6:18.
Ferner RE, Gutmann DH. International consensus statement on malignant peripheral nerve
sheath tumors in neurobromatosis. Cancer Res 2002;62(5):1573-7.
Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, et al. Guidelines for
the diagnosis and management of individuals with neurobromatosis 1. J Med Genet
2007;44(2):81-8.
Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, et al. The diagnostic
evaluation and multidisciplinary management of neurobromatosis 1 and neuro-
bromatosis 2. JAMA 1997;278(1):51-7.
Huson SM. Neurobromatosis 1: A clinical and genetic overview. In: Huson SM, Hughes
RAC, editors. The neurobromatoses: A pathogenetic and clinical overview. London:
Chapman and Hall Medical; 1994. p.160-203.
Hyman SL, Shores EA, North KN. Learning disabilities in children with neurobromatosis
type 1: subtypes, cognitive prole, and attention-decit-hyperactivity disorder. Dev Med
Child Neurol 2006;48(12):973-7.
Hyman SL, Shores A, North KN. The nature and frequency of cognitive decits in children
with neurobromatosis type 1. Neurology 2005;65(7):1037-44.
Mautner VF, Asuagbor FA, Dombi E, Funsterer C, Kluwe L, Wenzel R, et al. Assessment
of benign tumor burden by whole-body MRI in patients with neurobromatosis 1. Neuro
Oncol 2008;10(4):593-8.
Miettinen M, Fetsch JF, Sobin LH, Lasota J. Gastrointestinal stromal tumors in patients with
neurobromatosis 1: a clinicopathologic and molecular genetic study of 45 cases. Am J
Surg Pathol 2006;30(1):90-6.
North K. Cognitive function and academic performance. In: Friedman JM, Riccardi
VM, editors. Neurobromatosis: phenotype, natural history, and pathogenesis. 3rd ed.
Baltimore: Johns Hopkins University Press; 1999. p.162-89.
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Noonan syndrome 321
Noonan syndrome
Noonan syndrome varies in expression, and its phenotype
changes with age. A child or adult with Noonan syndrome may
have:
short stature
congenital heart disease (mainly valvular pulmonary stenosis)
mild intellectual disability
characteristic facial features and a broad or webbed neck.
Te epidemiology of Noonan syndrome remains poorly defned.
It has been estimated that Noonan syndrome with intellectual
disability accounts for fewer than 1in 10000 births (1in33000
births in Western Australia).
*
As Noonan syndrome is not always
associated with intellectual disability, its true incidence may be
much higher.
CAUSE
Noonan syndrome is genetically heterogeneous. Mutations in the
PTPN11, SOS1, RAF1, KRAS, NRAS and BRAF genes have been
found in approximately 75% of cases. PTPN11gene mutations are
most common. Tese genes encode functionally related proteins
that are implicated in a common signal transduction pathway.
Genetic testing for Noonan syndrome involves sequencing the
most common causal genes. It is normally performed in a tiered
order, starting with the PTPN11gene.
Although the pattern of transmission of Noonan syndrome
in families suggests inheritance is autosomal dominant, a
signifcant proportion of cases is sporadic.
*
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Noonan syndrome 322
DIAGNOSIS
Noonan syndrome is usually diagnosed by a clinical geneticist
or experienced paediatrician, based on clinical fndings (see
below). Several other developmental disorders are clinically
(and genetically) related. Tese include LEOPARD syndrome,
neurofbromatosis-Noonan syndrome and cardiofaciocutaneous
syndrome. Te phenotype of Noonan syndrome has some overlap
with neurofbromatosis, as caf au lait spots are common. Also,
some people with neurofbromatosis have facial and cardiac
features similar to people with Noonan syndrome.
Other disorders that share features with Noonan syndrome and
may be confused with it are Costello, Aarskog, Turner and fetal
alcohol syndromes.
If a pathogenic mutation in the PTPN11 gene is detected, this
is useful to confrm the diagnosis, particularly in atypical cases.
CHARACTERISTICS
People with Noonan syndrome have a range of physical features
and medical, cognitive and behavioural problems.
Facial features
People with Noonan syndrome have characteristic facial features,
especially their eyes and neck. Tese include:
widely spaced eyes (hypertelorism)
drooping upper eyelids (ptosis)
downslanting eyes (downslanting palpebral fssures)
a low hairline at the nape of the neck
excess skin behind the nape of the neck at birth (excess nuchal
skin)
neck webbing, more obvious in older children.
As a child gets older, their face may develop a triangular contour.
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Noonan syndrome 323
Other common features in people with Noonan syndrome
include:
visual defects, such as strabismus and refractive errors
low-set and posteriorly rotated ears
a high arched palate
a fattened nasal bridge
an unusually small jaw (micrognathia)
wispy hair in infants, more curly or woolly hair in older
children.
Growth
About 80% of people with Noonan syndrome have short stature.
Teir growth before puberty tends to follow the 3rd percentile,
but they may have some catch-up growth during adolescence.
In both sexes puberty may be normal or delayed. Over half the
males with Noonan syndrome have at least one undescended
testis. Tey may also have inadequate secondary sexual
development, associated with defcient spermatogenesis. Most
females are fertile.
Medical conditions
Many medical conditions may be associated with Noonan
syndrome.
More than 80% of people with Noonan syndrome have an
abnormality of the cardiovascular system. Ofen they have an
unusual and distinctive electrocardiographic pattern. Te most
common heart defect (about 50%) is pulmonary valvular sten-
osis. Other heart lesions include hypertrophic cardiomyopathy,
atrial septal defect, asymmetrical septal hypertrophy, ventricular
septal defect and persistent ductus arteriosus.
Some conditions in people with Noonan syndrome afect their
body structure. Chest deformities (eg pectus carinatum, pectus
excavatum) occur in 90%. Cubitus valgus and hand anomalies
are common. Scoliosis and talipes equinovarus also occur.
Hypotonia is common.
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Noonan syndrome 324
Other conditions associated with Noonan syndrome are:
abnormal bleeding and bruising (approximately one-third of
people have one or more coagulation defects)
unexplained hepatosplenomegaly (in about 25% of people)
abnormalities of the lymphatic vessels, sometimes leading to
general or peripheral lymphoedema.
Seizures, vision and hearing impairments and dental problems
can also occur.
Cognitive and behavioural problems
About one-third of people with Noonan syndrome have mild
intellectual disability. Teir average IQ is approximately 10points
below that of unafected family members. Learning disability
appears to be associated with specifc visual-constructional
problems. Language delay may be secondary to articulation
problems, mild hearing loss or perceptual motor disabilities.
Behavioural and psychiatric problems may also occur.
MANAGEMENT
A person with Noonan syndrome should be referred to a clinical
geneticist to confrm the diagnosis and provide:
information about its natural course
counselling on mode of inheritance and risk of recurrence.
At the time of diagnosis, the person should:
have routine kidney ultrasound
be referred for management of cryptorchidism (if present).
Management of Noonan syndrome also involves:
specialist care and long-term monitoring of any congenital
heart disease
monitoring growth and endocrine (eg thyroid) status, and
intervening if indicated
screening for clotting abnormalities
assessing and monitoring hearing and vision (including
audiological and ophthalmological examinations)
treating epilepsy (if present)
assessing specifc learning defcits, and possibly intervening.
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Noonan syndrome 325
Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, et al.
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with
Noonan syndrome and ve patients with cardio-facio-cutaneous syndrome. Eur J Hum
Genet 2003;11(2):201-6.
Noonan JA. Noonan syndrome. An update and review for the primary pediatrician. Clin
Pediatr (Phila) 1994;33(9):548-55.
Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, et al. Noonan syndrome:
clinical features, diagnosis, and management guidelines. Pediatrics 2010;126(4):746-
59.
Sharland M, Burch M, McKenna WM, Paton MA. A clinical study of Noonan syndrome.
Arch Dis Child 1992;67(2):178-83.
Tartaglia M, Gelb BD, Zenker M. Noonan syndrome and clinically related disorders. Best
Pract Res Clin Endocrinol Metab 2011;25(1):161-79.
Wood A, Massarano A, Super M, Harrington R. Behavioural aspects and psychiatric
ndings in Noonans syndrome. Arch Dis Child 1995;72(2):153-5.
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Prader-Willi syndrome 326
Prader-Willi syndrome
Prader-Willi syndrome is a complex genetic condition. It is
characterised by:
an altered pattern of growth and development
a specifc behavioural phenotype that includes hyperphagia.
Te preoccupation with food, and accompanying compulsion
to eat, can cause extreme obesity and premature death. Lifelong
interventions by a multidisciplinary team (including a dietitian)
are essential. Although people with this syndrome have been
reported to live into their eighth decade, it still causes signi-
fcantly increased morbidity and mortality. Most adults live with
family or in accommodation with formal support networks.
Te condition is mostly sporadic, afects males and females,
and is not associated with any ethnic or socioeconomic group.
Estimates of its incidence range from 1in15000 to 1in25000
live births. Probably many cases are undiagnosed.
CAUSE
Prader-Willi syndrome is associated with a lack of expression of
paternally inherited genes on chromosome15q11q13.
Te main genetic mechanisms that have been identifed are
deletions (70%), maternal uniparental disomy (20% to 30%),
translocations, inversions and duplications (5%) and imprinting
centre mutations.
PATHOLOGY
Little is known about the neurological pathology in Prader-
Willi syndrome that leads to congenital hypotonia, growth and
metabolic disorders, developmental disability and hyperphagia.
Neurotransmitters and receptors are probably impaired, causing
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multisystem disorders with variable expression. Te hypo-
thalamus is involved. Having fewer specifc oxytocin neurones
(putative satiety cells) in the hypothalamic paraventricular
nucleus may impair the satiety response, and result in
hyperphagia.
PRESENTATION
Prader-Willi syndrome usually presents in:
infancy, with severe central neonatal hypotonia
early childhood, with developmental delay, hyperphagia and
obesity.
Most children with Prader-Willi syndrome are diagnosed in
their frst year of life. Te core criteria that raise suspicion at
birth result from central generalised hypotonia, and are:
extreme central foppiness
weak cry or inactivity
poor sucking ability.
In older children and adults (who dont have a reliable neonatal
or early history), suspicion may be raised when they have:
hyperphagia
a learning disability or intellectual disability, with impairments
in social cognition, fexibility, abstract ideas and concepts of
time and number
abnormal growth (short stature, small hands and feet,
hypotonia, narrow forehead).
Hypogonadism is common, and puberty is ofen delayed.
DIAGNOSIS
Prader-Willi syndrome is diagnosed by a blood test using a
specifc methylation analysis of DNA. Tis test distinguishes
between the maternal (methylated) and paternal (nonmethylated)
Prader-Willi syndrome region of chromosome15.
Further genetic investigations are required to determine the
genetic mechanism.
In Australia, analysis by comparative genomic hybridisation
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(CGH) array (commonly known as microarray or molecular
karyotype) is recommended. Tis test detects deletions,
translocations with a small deletion, and maternal isodisomy. It
replaces fuorescent in situ hybridisation (FISH). If CGH array
is negative, maternal heterodisomy can be detected by DNA
polymorphism analysis (polymerase chain reaction [PCR]) of
the patient and their parents. Deletions and maternal disomy
are sporadic, with no risk of recurrence.
If all these tests are negative, referral to a geneticist is required, to
test for an imprinting centre mutation and other rare anomalies.
Prenatal diagnosis is possible. Risk of recurrence is low, except
when Prader-Willi syndrome is caused by an imprinting
anomaly.
MANAGING ASSOCIATED HEALTH PROBLEMS
Despite interventions, people with Prader-Willi syndrome have
considerable morbidity and premature mortality. Teir health
problems are related to hypotonia, altered metabolism, obesity,
psychiatric disorders, sleep disorders, scoliosis and other factors.
Regular follow-up and screening for these associated health
problems is essential.
Premature death is commonly associated with cardiorespiratory
complications of obesity. Sudden death is not uncommon. It
may be related to undiagnosed coronary artery disease or other
acute diseases (eg peritonitis secondary to a ruptured appendix).
Tese diseases may not be recognised, because people with
Prader-Willi syndrome have a high pain threshold.
Parents take time to adjust to the diagnosis of a long-term
disability in their infant or child. While doing this, they also
need to develop a healthy approach to eating for the whole
family. It is ofen challenging to maintain weight in an infant
with feeding difculties. However, this is an important time for
families to adjust their eating habits. Te onset of hyperphagia
can be subtle and may be preceded by obesity, refecting an
underlying metabolic disorder.
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Failure to thrive
Infants who are slow at sucking and do not wake up hungry for
feeds are at risk of failure to thrive. A Haberman teat may be help-
ful. A speech pathologist can advise on improving oral function.
A dietitian can monitor calories to avoid undernutrition.
Some infants need nasogastric feeding for several weeks or
months. Tey should be closely monitored, to avoid over-
nutrition and excessive weight gain.
Short stature
Prader-Willi syndrome is characterised by impaired linear
growth. Impaired linear growth, abnormal body composition
and hypothalamic dysfunction suggest growth hormone
defciency.
Growth hormone is available in Australia through the Pharm-
aceutical Benefts Scheme (see application and guidelines) for all
children with Prader-Willi syndrome, until the age of 18years.
Te purpose of therapy is to improve body composition
and short stature. An endocrinologist needs to apply to the
Terapeutic Goods Administration, and growth measurements
are required every 3months. Formal sleep studies are required
before commencing therapy and afer 6 weeks, to exclude any
obstructive sleep difculties.
Studies of the efect of growth hormone on quality of life,
development and physical strength are limited.
Respiratory problems
Hypotonia in the upper airways and chest wall increases the
risk of respiratory disease in young children and adults with
Prader-Willi syndrome. Minor upper respiratory infections in
young children may cause a croup-like illness with upper airway
obstruction. Tonsillectomy and adenoidectomy may be required
because of the relative narrowing of their upper airway.
People with Prader-Willi syndrome recover slowly from lower
respiratory tract infections. Recurrent respiratory infections are
common in adults.
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Sleep disorders
Sleep disorders in people with Prader-Willi syndrome include
excessive daytime sleeping, and are probably due to hypo-
thalamic dysfunction. Abnormal responses to hypoxia and
hypercapnia have been reported. Both can be exacerbated by
obesity, and increase the risk of obstructive sleep apnoea and
sleep-related alveolar hypoventilation.
A detailed history, with a sleep diary, helps in the diagnosis.
Formal sleep studies are recommended.
Hypogonadism
Most boys with Prader-Willi syndrome have altered
spermatogenesis, and male fertility has never been reported.
Tere are a few reports of women with this syndrome bearing
children.
Ochidopexy is recommended by the age of 2 years for boys
with undescended testes. Testosterone can be used to increase
penile size.
Afer investigation for delayed puberty in girls and boys, hor-
mone replacement therapy is recommended (see eTGcomplete).
Obesity
People with Prader-Willi syndrome are at extreme risk of obesity,
due to their:
preoccupation with food/hyperphagia
low energy expenditure
reduced activity.
Obesity increases the risk of diabetes, coronary artery disease,
cor pulmonale, sleep apnoea and premature death. Preventing
obesity is paramount for the persons physical, psychological and
social wellbeing. A person with Prader-Willi syndrome needs
support and intervention throughout their life.
All people with Prader-Willi syndrome have a preoccupation
with food with a reduced appetite controlthis is a disturbance
in satiety, and is likened to a constant state of feeling starved.
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People with Prader-Willi syndrome have low energy expenditure,
and require considerably fewer kilojoules than the general
population. Tis is because they have a signifcantly higher
proportion of body fat relative to lean body mass. Te efect is
more pronounced in boys than girls. It may result from androgen
defciency in early infancy, caused by hypogonadotrophic
hypogonadism.
Hypotonia, with reduced muscle bulk and strength, persists into
adult life. It contributes to the poor posture and reduced stamina
for physical activity of people with Prader-Willi syndrome.
Preventing and managing obesity
Preventing and managing obesity requires:
restricting access to food
a low kilojoule diet
modifed eating behaviours
regular physical activity.
Modifying excessive eating
Healthy eating patterns and a low kilojoule diet must be
established in the preschool years, before preoccupation with
food begins. Parents ofen need support in this. For people of all
ages with Prader-Willi syndrome, it is important to explain their
eating disorder and diet program to extended family, support
people, teachers, employers and others who have contact with
them. Written personalised information can be provided when
appropriate.
Total involvement of family and other support people is
essential to ensure a person with Prader-Willi syndrome has
restricted access to food. Parents may need support to convince
extended family and community members that it is important
this approach is applied consistently. Specifc measures include
an inaccessible pantry, and supervised snacks and meals at
school and elsewhere. Children and young adults with Prader-
Willi syndrome ofen speak about the difculty of resisting
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available food. Tey comment that they can resist food if they
are supervised.
Te onset of hyperphagia can be subtle. Currently there is no
specifc drug to counteract it. Selective serotonin reuptake
inhibitors are used in obsessive compulsive disorders, and may
be helpful.
Te height and weight of children and adolescents with Prader-
Willi syndrome should be measured regularly. Results should
be plotted on growth charts to detect early weight gain. Ideally
weight should be maintained at less than the 90th percentile.
Adults should be weighed regularly (every 1 to 3 months) and
maintain their body mass index at less than25. Tey should be
weighed more ofen if they are rapidly gaining weight or are
foraging for food.
Dietary guidelines
Close involvement with a dietitian and a psychologist or social
worker helps maintain nutritional guidelines and strategies
throughout the persons life. Dietary guidelines are essential for
all settings (eg child care, kindergarten, school, work, home).
Tis is particularly important in settings where there is a high
turnover of support staf.
All people with Prader-Willi syndrome need a dietitian to help plan
their nutritional guidelines and review them regularly.
Te diet should contain a variety of healthy foods including
bread and cereals (including whole grain), vegetables, fruit,
minimum-fat milk (or alternatives for adults) and moderate
amounts of lean meat or alternatives. It is helpful to:
avoid foods and drinks high in fat and/or sugar
provide water to quench thirst
substitute fruit for fruit juice
give a list of fat-free foods (eg celery, cucumber, carrot, pickled
gherkin) to people in the persons life (eg friends, educators)
establish regular times for meals and snacks.
Generic weight loss organisations and strategies have helped
some young adults.
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Physical activity
Physical activity needs to be incorporated into the daily life of
people with Prader-Willi syndrome. Participation in organised
training and physical activities (eg attending a gymnasium,
organised sport) is recommended.
Other health problems
People with Prader-Willi syndrome are at a higher risk of other
health problems. Tese include:
late presentation of illness, due to an increased pain threshold,
altered temperature control or a reduced ability to vomit
cellulitis secondary to skin picking
scoliosis
hip dysplasia
reduced cortisol response with acute illness
strabismus
dental anomalies, including hypoplastic enamel
choking with binge eating.
BIOPSYCHOSOCIAL CONCERNS
People with Prader-Willi syndrome have signifcant social
handicaps, as a result of:
cognitive difculties
specifc behavioural and personality traits
hyperphagia
interventions that limit their autonomy.
Diferences in cognitive profles and psychiatric morbidities
between genetic subtypes (deletion and maternal disomy) have
been reported.
Cognitive disabilities
Specifc learning and language disorders may occur with a normal
intellect in people with Prader-Willi syndrome. However, most
people have an IQ in the range of mild intellectual disability,
the average being between 60 and 65. Ofen these people have
greater difculties in adaptive behaviour than expected.
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Disabilities have been described in the areas of:
speech (resulting from hypotonia and cognitive impairments)
short-term memory and sequential processing
language processing
self-refection and conceptualisation (causing reduced
capacity to self-monitor).
Several strategies may help minimise the efect of cognitive
disability in children with Prader-Willi syndrome. Tese include
early referral to a speech pathologist for assessment, advice and
(if appropriate) therapy and ongoing surveillance. Some toddlers
and preschool children with expressive language delays beneft
from Makaton sign language. Before starting school, the child
may be referred for a detailed cognitive assessment to identify
their learning profle and specifc learning disabilities.
Behavioural phenotype
People with Prader-Willi syndrome are at increased risk of
a cluster of behavioural traits. Tese may be related to specifc
cognitive impairments. Te phenotype includes a preoccupation
with food and other obsessive traits, mood lability, impulsiveness,
temper tantrums, inactivity, repetitive speech patterns, skin
picking and relative weakness in social skills and adaptive
behaviour. Some children have the triad of behaviours that
are consistent with autism spectrum disorder. Behavioural
difculties ofen increase with age.
During school years, special education and psychological
assistance are ofen required for difculties in adaptive behaviour.
Adolescence and early adulthood is ofen a time of emotional
lability, defance, socialisation difculties and depression.
Early referral to a psychologist for cognitive and clinical
assessment is recommended, with appropriate ongoing advice,
support and interventions. Long-term follow-up benefts the
patient and their family.
It is important that young people with Prader-Willi syndrome
have an opportunity to meet, to express themselves and discuss
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their frustrations and difculties. Referral to a behavioural
psychologist for behavioural intervention may be required.
Psychiatric and physical illness should be excluded when serious
problems arise or their behaviour deteriorates suddenly.
Psychiatric disorders
Adults with Prader-Willi syndrome have an increased risk of
psychiatric disorders. A relationship between family stress and
behavioural symptomatology has been noted. A high risk for
obsessive compulsive disorders and an increased vulnerability
to schizophrenia and other psychoses has also been noted.
See advice on managing psychiatric disorders.
RESOURCES
Specifc clinics for Prader-Willi syndrome and support
associations (a source of information for professionals as well as
families) are listed below.
websites.
Clinics
Multidisciplinary Prader-Willi syndrome clinics are located
in Brisbane, Melbourne and Sydney. For young people and
adults not attending a specifc Prader-Willi syndrome clinic, a
6-monthly visit to their general practitioner is recommended to
monitor weight and general health.
Brisbane
Mater Hospital (child clinic)
Raymond Terrace
South Brisbane, QLD 4101
Telephone (07) 3163 2500
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Princess Alexandra Hospital
Ipswich Road
Woolloongabba, QLD 4102
Telephone (07) 3176 1080
Melbourne
Royal Childrens Hospital
Flemington Road
Parkville, VIC 3052
Telephone (03) 9345 5898
Sydney
Royal Prince Alfred Hospital
Missenden Road
Camperdown, NSW 2050
Telephone (02) 9515 4230
Sydney Childrens Hospital
High Street
Randwick, NSW 2031
Telephone (02) 9382 8189
Support associations
Prader-Willi associations provide information and support
for parents, professionals and other interested people.
Prader-Willi Syndrome Association of Australia
Telephone (02) 4946 9001
(Website has contact information for the fve incorporated
State Associations in Australia [New South Wales, Queensland,
South Australia, Victoria and Western Australia].)
Prader-Willi Syndrome Association UK
de Lind van Wijngaarden RF, Otten BJ, Festen DA, Joosten KF, de Jong FH, Sweep FC, et
al. High prevalence of central adrenal insufciency in patients with Prader-Willi syndrome.
J Clin Endocrinol Metab 2008;93(5):1649-54.
Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M. Recommendations
for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab
2008;93(11):4183-97.
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James TN, Brown RI. Prader-Willi syndrome. London: Chapman & Hall; 1992.
Lionti T, Reid SM, Rowell MM. Prader-Willi syndrome in Victoria: Mortality and causes of
death. J Paediatr Child Health 2012;48(6):506-11.
McCandless SE. Clinical report-health supervision for children with Prader-Willi syndrome.
Pediatrics 2011;127(1):195-204.
Waters J. A handbook for parents and carers of adults with Prader-Willi syndrome. 2nd rev.
ed. Derby: Prader-Willi Syndrome Association (UK); 2009.
Waters J, Gellatly M. Babies and children with Prader-Willi Syndrome: a handbook for
parents and carers. Rev. ed. Derby: Prader-Willi Syndrome Association (UK); 2001.
Waters J, Mitchell K. Teenagers with Prader-Willi syndrome: a handbook for parents and
carers. Derby: Prader-Willi Syndrome Association (UK); 2005.
Whittington J, Holland A. Neurobehavioral phenotype in Prader-Willi syndrome. Am J Med
Genet C Semin Med Genet 2010;154C(4):438-47.
Whittington J, Holland T. Prader Willi Syndrome: development and manifestations.
Cambridge: Cambridge University Press; 2004.
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Rett syndrome 338
Rett syndrome
Rett syndrome is a neurodevelopmental disorder seen almost
exclusively in females. Severe intellectual and physical handicap
are dominant features, although assessing IQ by traditional
methods is difcult.
Rett syndrome is diagnosed in approximately 1 in 10 000 girls
by the age of 12 years. In Australia this is equivalent to about
15 girls for each birth year.
*
Life expectancy in Rett syndrome
has not been well studied. However, an Australian study found
that 65% of afected females survive to the age of 32years.
CAUSE
Rett syndrome is a genetic disorder. Most cases are caused by
mutations in the MECP2 gene. About 99% of these cases are
single occurrences in a family, caused by a de novo mutation
in the child. Rarely, the mother carries the mutation, but has
been protected from its efects by skewed X inactivation. Eight
common mutations account for about two-thirds of cases with
MECP2mutations. Specifc mutations are associated with both
milder and more severe presentations of the syndrome.
CLINICAL AND GENETIC DIAGNOSIS
Clinical diagnosis of Rett syndrome is challenging, because some
features necessary for diagnosis may only become apparent with
time. Despite clear criteria, children with Rett syndrome have
been misdiagnosed as having Angelman syndrome, Prader-
*
Fehr S, Bebbington A, Nassar N, Downs J, Ronen GM, de Klerk N, et al. Trends in the
diagnosis of Rett syndrome in Australia. Pediatr Res 2011;70(3):313-9.

Freilinger M, Bebbington A, Lanator I, de Klerk N, Dunkler D, Seidl R, et al. Survival
with Rett syndrome: comparing Retts original sample with data from the Australian Rett
Syndrome Database. Dev Med Child Neurol 2010;52(10):962-5.
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Rett syndrome 339
Willi syndrome, autism spectrum disorder, cerebral palsy and
other (more rare) neurodegenerative disorders.
Doctors in Australia have only known about Rett syndrome
since 1983. Terefore, it is likely that some adults with Rett
syndrome remain undiagnosed or misdiagnosed. Tis adds to
the complexity of estimating life expectancy.
Consensus criteria to help clinicians diagnose Rett syndrome
were frst formulated in 1988, but have been revised since. Te
most recent revision
*
refers to typical (or classic) and atypical
Rett syndrome. For any type of Rett syndrome to be diagnosed,
a period of regression is necessary. Te two categories of
diagnostic criteria are main and supportive. For typical Rett
syndrome, all four main criteria need to be present. For atypical
Rett syndrome, only two of the main criteria are required, as
long as at least fve of the eleven supportive criteria are present.
Atypical presentations can be either milder or more severe than
typical Rett syndrome.
See diagnostic criteria (including exclusion criteria) listed in
Characteristics below.
If genetic testing reveals a pathogenic MECP2 mutation, this
is helpful. It gives independent confrmation of a challenging
clinical diagnosis. Failure to fnd a mutation does not exclude
the diagnosis, as about 20% of cases have no apparent defect
within the gene.
CHARACTERISTICS
A child with typical Rett syndrome has the following
characteristics.
First, the child (almost invariably a girl) has had a period of
regression followed by recovery or stabilisation.
She has also experienced each of the main criteria, which are:
partial or complete loss of purposeful hand skills
*
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N,
et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol
2010;68(6):944-50.
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Rett syndrome 340
partial or complete loss of acquired spoken language
gait abnormalities (either an impaired gait [dyspraxia] or
inability to walk)
stereotypic hand movements (eg hand wringing/squeezing,
clapping/tapping, mouthing, washing/rubbing automatisms).
A diagnosis of Rett syndrome is excluded if there has been:
brain injury secondary to trauma (perinatal or postnatal),
neurometabolic disease or severe infection causing
neurological problems
grossly abnormal psychomotor development in the frst 6
months of life.
Supportive criteria are characteristics that are not essential for a
diagnosis of typical Rett syndrome, but are ofen present. Tese
are:
breathing disturbances when awake
bruxism when awake
impaired sleep pattern
peripheral vasomotor disturbances
scoliosis/kyphosis
growth retardation
small cold hands and feet
inappropriate laughing/screaming spells
diminished response to pain
intense eye communication (eye pointing).
Additional features
Rett syndrome is associated with several comorbidities, and
some have been included in the supportive criteria above.
Epilepsy afects approximately 80% of patients, with a median
age of onset of 4years. Seizures generally become less frequent
in late adolescence and adulthood, but in some people they
remain difcult to control.
Gastrointestinal problems (eg constipation, gastro-oesophageal
refux) are common, as are growth problems.
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Rett syndrome 341
Rett syndrome is associated with dysfunction of the autonomic
nervous system, which may manifest as abnormal breathing (eg
hyperventilation or apnoeic episodes). Sleep problems are also
common.
Scoliosis is one of the most signifcant orthopaedic compli-
cations. About 75% of girls with Rett syndrome have scoliosis by
the age of 13years (median age of onset is 9years). Osteopenia
and fractures are also common.
MANAGEMENT
Parents and family generally value establishing a defnitive
diagnosis of Rett syndrome, because it:
provides insight into the cause of the childs clinical features
facilitates access to support services.
Management includes:
antiepileptic drugs, if the person has seizures (see diagnosis
of epilepsy)
nutrition support (sometimes a gastrostomy)
physiotherapy (to help maintain ambulation and prevent
osteopenia)
occupational therapy (to help maintain function and prevent
deformities).
Te child may also beneft from:
referral to an orthopaedic specialist:
ofen required, particularly for monitoring and managing
scoliosis (see guidelines
*
)
scoliosis ofen improved by surgery
active management of constipation (most girls and women
need this)
music therapy and hydrotherapy (girls generally respond
well)
communication aids (simple and more sophisticated).
*
Downs J, Bergman A, Carter P, Anderson A, Palmer GM, Roye D, et al. Guidelines for
management of scoliosis in Rett syndrome patients based on expert consensus and
clinical evidence. Spine (Phila Pa 1976) 2009;34(17):E607-17.
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Rett syndrome 342
RESOURCES
websites.
With the help of clinicians and families in Australia who have
children with Rett syndrome, the Australian Rett syndrome
study (AussieRett) aims to improve understanding of this
syndrome, improve the clinical care of people with it, and help
fnd its cause and cure.
Australian Rett syndrome study
Telephone (08) 9489 7790
Te Rett Syndrome Association of Australia provides support
and resources to families.
Rett Syndrome Association of Australia
GPO Box 3497
Melbourne VIC 3001
Email rettaust@bigpond.com.au
Amir RE, Zoghbi HY. Rett syndrome: methyl-CpG-binding protein 2 mutations and
phenotype-genotype correlations. Am J Med Genet 2000;97(2):147-52.
Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, et al. Investigating
genotype-phenotype relationships in Rett syndrome using an international data set.
Neurology 2008;70(11):868-75.
Colvin L, Fyfe S, Leonard S, Schiavello T, Ellaway C, de Klerk N, et al. Describing the
phenotype in Rett syndrome using a population database. Arch Dis Child 2003;88(1):38-
43.
Downs J, Bebbington A, Woodhead H, Jacoby P, Jian L, Jefferson A, et al. Early determinants
of fractures in Rett syndrome. Pediatrics 2008;121(3):540-6.
Downs J, Bergman A, Carter P, Anderson A, Palmer GM, Roye D, et al. Guidelines for
management of scoliosis in Rett syndrome patients based on expert consensus and
clinical evidence. Spine (Phila Pa 1976) 2009;34(17):E607-17.
Fehr S, Bebbington A, Nassar N, Downs J, Ronen GM, de Klerk N, et al. Trends in the
diagnosis of Rett syndrome in Australia. Pediatr Res 2011;70(3):313-9.
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Rett syndrome 343
Freilinger M, Bebbington A, Lanator I, de Klerk N, Dunkler D, Seidl R, et al. Survival
with Rett syndrome: comparing Retts original sample with data from the Australian Rett
Syndrome Database. Dev Med Child Neurol 2010;52(10):962-5.
Habgberg B. Clinical criteria, stages and natural history. In: Hagberg B, Anvret M, Wahlstrom
J, editors. Rett syndrome: clinical and biological aspects. London: Mac Keith Press; 1993.
p.4-20.
Hagberg B. Clinical criteria, stages and natural history. In: Hagberg B, Wahlstrom J, editors.
Rett syndrome: clinical and biological aspects. London: Mac Keith Press; 1993.
Hagberg B, Hanefeld F, Percy A, Skjeldal O. An update on clinically applicable diagnostic
criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel
Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11
September 2001. Eur J Paediatr Neurol 2002;6(5):293-7.
Jefferson AL, Woodhead HJ, Fyfe S, Briody J, Bebbington A, Strauss BJ, et al. Bone
mineral content and density in Rett syndrome and their contributing factors. Pediatr Res
2011;69(4):293-8.
Jian L, Nagarajan L, de Klerk N, Ravine D, Christodoulou J, Leonard H. Seizures
in Rett syndrome: an overview from a one-year calendar study. Eur J Paediatr Neurol
2007;11(5):310-7.
Laurvick CL, de Klerk N, Bower C, Christodoulou J, Ravine D, Ellaway C, et al. Rett syndrome
in Australia: a review of the epidemiology. J Pediatr 2006;148(3):347-52.
Leonard H, Bower C, English D. The prevalence and incidence of Rett syndrome in
Australia. Eur Child Adolesc Psychiatry 1997;6(Suppl 1):8-10.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, et al. Rett
syndrome: revised diagnostic criteria and nomenclature. Ann Neurol 2010;68(6):944-50.
Oddy WH, Webb KG, Baikie G, Thompson SM, Reilly S, Fyfe SD, et al. Feeding
experiences and growth status in a Rett syndrome population. J Pediatr Gastroenterol Nutr
2007;45(5):582-90.
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Tuberous sclerosis 344
Tuberous sclerosis
Clinically, tuberous sclerosis has three classical features
intellectual disability, epilepsy and a butterfy-shaped facial
rash of angiofbromas (also known as adenoma sebaceum). It
is a genetic disease that afects many body systems. Tuber-like
growths occur in the brain and other major organs (including
heart and kidneys). Te spectrum and severity of its efects
varies widely, and some people with this condition have no
obvious signs.
Te prevalence of tuberous sclerosis is not clear. In Caucasian
populations it is estimated to occur in 1in 25000 children.
CAUSE
Most cases of tuberous sclerosis arise from mutations in the
TSC1 or TSC2 genes. Te TSC1gene is at chromosome 9q34 and
encodes the protein hamartin. Te TSC2gene is at chromosome
16p13.3 and encodes the protein tuberin. Other genetic and
environmental factors infuence clinical severity.
Inheritance of tuberous sclerosis is autosomal dominant.
Sporadic new mutations (more commonly in the TSC2 gene)
are responsible for up to two-thirds of cases. In general, patients
with TSC2 mutations have more severe symptoms.
DIAGNOSIS
Standardised diagnostic criteria for tuberous sclerosis are shown
in Table 19. A neurologist, paediatrician or clinical geneticist
usually assesses the patient. Diagnosis is clinical, and is based on
imaging (brain, cardiac and renal) and specialised assessments
(ophthalmological, dental and skeletal). Genetic testing is
positive in 75% to 85% of cases that meet the clinical criteria.
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It is recommended, because it helps give families accurate
genetic counselling and access to prenatal or preimplantation
genetic diagnosis.
Table 19. Diagnosis of tuberous sclerosis
*
Diagnosis of tuberous sclerosis
denite: 2 major features, or 1 major feature plus 2 minor features
probable: 1 major feature plus 1 minor feature
possible: 1 major feature, or 2 or more minor features
Major features
facial angiobromas or forehead
plaque
nontraumatic ungual or periungual
bromas
hypomelanotic patches, three or
more
shagreen patch (connective tissue
naevus)
multiple retinal nodular hamartomas
cortical tuber
subependymal nodule
subependymal giant cell astrocytoma
cardiac rhabdomyoma, single or
multiple
lymphangiomyomatosis
renal angiomyolipoma
Minor features
multiple randomly distributed pits in
dental enamel
hamartomatous rectal polyps
bone cysts
cerebral white matter radial migration
lines
gingival bromas
nonrenal hamartomas
retinal achromic patch
confetti skin lesions
multiple kidney cysts
* Source: Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus
conference: revised clinical diagnostic criteria. J Child Neurol 1998;13(12):624-8.
When cerebral cortical dysplasia and white matter migration lines occur together,
they count as one feature, not two.
When lymphangiomyomatosis and renal angiomyolipomas are both present, this
is not sufcient for a diagnosis of tuberous sclerosis. Other features of tuberous
sclerosis must be present to complete the diagnosis.
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CHARACTERISTICS
Te classical features of tuberous sclerosis are:
epilepsy
skin lesions.
About half the people with tuberous sclerosis have associated
intellectual disability. Te severity of intellectual disability is
related to the severity of epilepsy.
Seizures occur in 70% to 80% of people with tuberous sclerosis,
and range from subtle to severe. Te most common types are
infantile spasms (jackknife or salaam seizures), complex partial
seizures and myoclonic seizures. Infantile spasms may be the
frst sign of this condition. Seizures can be difcult to control.
On occasion, seizure control has been obtained by surgical
excision of a single tuber.
Skin lesions
Tuberous sclerosis causes several types of skin lesions, including:
angiofbromas
hypomelanotic patches
shagreen patches (French: chagringrained skin)
subungual or periungual fbromas.
Angiofbromas are rarely obvious before the age of 2 years,
and frst appear as small erythematous lesions. Tey ofen
proliferate during puberty and can be confused with acne.
Typically, angiofbromas are found on the face. Forehead fbrous
plaques that also occur in tuberous sclerosis are clinically
indistinguishable.
Patches of depigmented skin (also known as ash leaf or
Fitzpatrick patches) are a common sign, and occur in 60% of
people with tuberous sclerosis. Tese white patches are the
frst skin abnormality to appear, and can usually be detected in
infancy and early childhood. A Woods light is ofen needed to
identify them, especially in people with fair skin.
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Shagreen patches are thickened and raised yellowish areas of
skin on the lower back. Tey occur in approximately half the
people with tuberous sclerosis.
Subungual or periungual fbromas occur under and around the
fngernails and are associated with grooves in the nail. Tey
become more prevalent with age, and occasionally are the only
signs of tuberous sclerosis.
Other characteristics
Te presence of cortical tubers (in terms of number and location)
is usually related to the severity of epilepsy and intellectual
disability in a person with tuberous sclerosis. Rarely, a cortical
tuber may become malignant.
Subependymal nodules are markers for tuberous sclerosis, but
do not usually cause complications.
Cystic kidney disease in tuberous sclerosis can be
indistinguishable from autosomal dominant polycystic kidney
disease, and usually presents in infancy. Renal angiomyolipomas
tend to present afer puberty.
Rhabdomyomas of the heart are ofen identifed antenatally. Tey
rarely cause any symptoms, but suggest that tuberous sclerosis is
highly probable and that further investigations are needed afer
birth. Tese benign muscle tumours (ie rhabdomyomas) may
also occur in the eyes, bones, lungs and liver. Teir prevalence
ranges from 47% to 60%. Surgery is only recommended for life-
threatening situations.
Te most common ocular abnormalities are retinal hamartomas,
found in 40% to 50% of patients.
Sleeping problems are common in children.
Behavioural difculties are common, and include hyperactivity
(59% of cases), aggressive behaviour (13%) and autism spectrum
disorder (50%).
Dental abnormalities (eg multiple enamel pits) may occur, and
sometimes assist diagnosis.
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MANAGEMENT
It is recommended that people with tuberous sclerosis are
seen periodically by a clinician with experience in managing
this condition. Te clinician can ofer management advice,
surveillance suggestions and treatment options.
Management of tuberous sclerosis also involves:
genetic counselling for the family (if the TCS1 and TCS2 gene
mutations that cause tuberous sclerosis are found, prenatal
diagnosis for future children becomes an option)
epilepsy management, which is particularly important as
developmental progress may be severely restricted by poorly
controlled seizures (occasionally, focal seizures arising from
hamartomas in the central nervous system can be improved
by neurosurgery)
brain scans (magnetic resonance imaging or computerised
tomography) if the person develops:
signs and symptoms of raised intracranial pressure
new focal neurological signs or symptoms
regular assessment of cognitive development and behaviour,
to identify and treat emerging difculties
skin lesion treatment (laser therapy, dermabrasion and
cautery)
behaviour management (as required)
dental care (regular)
kidney ultrasound scans (every 5years).
Cardiac outfow obstruction or arrhythmias may occur in
association with rhabdomyomas (particularly in infancy), and
may need treatment.
Sirolimus, an immunosuppressant drug, has been approved
by the Terapeutic Goods Administration for the medical
treatment of subependymal giant cell astrocytomas. Tis ofers
an alternative to surgery. Other studies have shown that drugs
like sirolimus may have a role in treating renal angiomyolipomas
and lymphangiomyomatosis.
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RESOURCES
websites.
Te Australasian Tuberous Sclerosis Society provides
information and support for parents, professionals and other
interested people.
Australasian Tuberous Sclerosis Society
Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med 2006;
355(13):1345-56.
Hunt A. Tuberous sclerosis: a survey of 97 cases. I: Seizures, pertussis immunisation and
handicap. Dev Med Child Neurol 1983;25(3):346-9.
Kandt RS. Tuberous sclerosis: the next step. J Child Neurol 1993;8(2):107-10.
Morrison PJ. Tuberous sclerosis: epidemiology, genetics and progress towards treatment.
Neuroepidemiology 2009;33(4):342-3.
OCallaghan FJ. Tuberous sclerosis. BMJ 1999;318(7190):1019-20.
OCallaghan FJ, Martyn CN, Renowden S, Noakes M, Presdee D, Osborne JP. Sub-
ependymal nodules, giant cell astrocytomas and the tuberous sclerosis complex: a
population-based study. Arch Dis Child 2008;93(9):751-4.
Osborne JP, Merrield J, OCallaghan FJ. Tuberous sclerosis whats new? Arch Dis Child
2008;93(9):728-31.
Petrova LD. Tuberous sclerosis and epilepsy. Am J Electroneurodiagnostic Technol 2011;
51(1):5-15.
Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference:
revised clinical diagnostic criteria. J Child Neurol 1998;13(12):624-8.
Schwartz RA, Fernandez G, Kotulska K, Jozwiak S. Tuberous sclerosis complex: advances
in diagnosis, genetics, and management. J Am Acad Dermatol 2007;57(2):189-202.
Webb DW, Clarke A, Fryer A, Osborne JP. The cutaneous features of tuberous sclerosis: a
population study. Br J Dermatol 1996;135(1):1-5.
Webb DW, Osborne JP. Tuberous sclerosis. Arch Dis Child 1995;72(6):471-4.
Yates JR, Maclean C, Higgins JN, Humphrey A, le Marechal K, Clifford M, et al. The
Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for
diagnosis and management. Arch Dis Child 2011;96(11):1020-5.
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Williams syndrome 350
Williams syndrome
People with Williams syndrome have characteristic facial
features and medical problems (eg cardiovascular disease).
Intellectual disability (which varies in severity) may be masked
by an unusually friendly outgoing personality.
Te epidemiology of Williams syndrome is not well studied. A
Norwegian study estimated a birth prevalence of 1in7500.
*
In
Western Australia, the estimated birth prevalence is 1in16000
births.
CAUSE
Williams syndrome is caused by a hemizygous microdeletion
of 26to 28 genes (the Williams-Beuren syndrome chromosome
region) on the long arm of chromosome7. One of these genes
is the elastin gene (ELN). It is deleted in approximately 95% of
people with Williams syndrome, and so is used for molecular
diagnosis.
An elastin defect may account for the abnormalities in connective
tissue in the aorta and larynx of people with Williams syndrome.
Te basis for their cognitive and behavioural problems has not
been fully explained.
DIAGNOSIS
Typically, infants with Williams syndrome have a characteristic
facial appearance, supravalvular aortic stenosis and intellectual
disability.
*
Stromme P, Bjornstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J
Child Neurol 2002;17(4):269-71.

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Presentation in infancy can include:
failure to thrive
vomiting and colic
constipation
recurrent ear infections
sleep dysregulation.
At the time of initial diagnosis, a series of specialised evaluations
is recommended. Tese include:
complex physical and neurological examinations
cardiology, urinary system and ophthalmic evaluation
genetics consultation
growth parameter plots (using Williams syndrome growth
charts)
serum calcium concentration
thyroid function.
Molecular karyotype tests and fuorescent in situ hybridisation
identify a submicroscopic deletion on chromosome7 (at 7q11.23
ie the elastin gene) in approximately 95% of cases.
CHARACTERISTICS
Children and adults with Williams syndrome have a range
of physical features and medical, cognitive, behavioural and
neurological problems.
Facial features
Common facial features in people with Williams syndrome
include:
pufness around the eyes (periorbital fullness)
a star-shaped pattern in their irises (stellate irides)
incomplete development of cheeks or cheekbones, so they
dont reach adult size (malar hypoplasia)
an upturned nose and fattened nose bridge and a full lower
lip, ofen with an open mouth appearance
sagging cheeks in infancy and childhood, with cheeks be-
coming thin in adolescence or early adulthood
strabismus.
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Characteristic dental anomalies may also occur (eg small or
unusually shaped primary teeth).
Growth
Williams syndrome may be associated with intrauterine growth
retardation. Children and adults may be short, and ofen have
microcephaly. Girls may have early menarche.
Medical concerns
Williams syndrome has many associated medical conditions.
Tese include:
cardiac abnormalities (about 75% of cases; supravalvular
aortic stenosis and peripheral pulmonary artery stenosis are
most commonly reported)
elevated blood pressure (frequent in adults)
myocardial ischaemia (associated with stenosis of the lef
coronary artery)
strokes and chronic hemiparesis (rare; associated with
stenosis of the cerebral arteries).
Other medical conditions that may occur in people with
Williams syndrome are:
kidney abnormalities (approximately 20% of cases; eg bladder
diverticulae, renal hypoplasia and duplicated kidneys) and
urinary tract infections
gastrointestinal problems (eg gastro-oesophageal refux,
chronic constipation, diverticulosis)
endocrine abnormalities (eg calcium abnormalities [infantile
hypercalcaemia may present as constipation], impaired
glucose tolerance, early puberty)
ear, nose and throat anomalies (eg hoarse voice, hyperacusis
[increased sensitivity to noise], hearing loss)
eye problems (eg strabismus, altered visual acuity)
inguinal hernia (common in children)
orthopaedic problems (eg joint laxity, contractures, scoliosis).
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Cognitive, behavioural and neurological problems
Cognitive defcits in people with Williams syndrome range from
mild to moderate intellectual disability. Perceptual and motor
functions are reduced more than verbal skills and memory.
Infants with Williams syndrome may be irritable and feed
poorly. Older children tend to be friendly and talkative, and
may be socially uninhibited. Teir intellectual ability may be
overestimated because of their apparently good verbal skills.
Emotional and behavioural disturbances (including generalised
anxiety and attention defcit problems) are common in children.
Tey may improve in adolescence and adulthood.
Parents report a high prevalence of sleep difculties. Tese
include bedtime resistance, sleep anxiety, night waking and
daytime sleepiness. Hypotonia is frequent in younger years, but
progresses to hypertonia.
MANAGEMENT
Management of a person with Williams syndrome involves:
screening for congenital heart disease (and if identifed,
subsequent management)
regular checks for elevated blood pressure in adults (and if
identifed, antihypertensive treatment)
urinary system evaluation (including ultrasound screening of
the renal system)
surveillance for endocrine abnormalities (and if identifed,
subsequent management)
ophthalmological review
regular dental care
physiotherapy for children with musculoskeletal and
neurological problems.
Feeding, gastrointestinal and urinary problems may also need to
be managed. Behavioural difculties may require psychological
intervention.
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RESOURCES
Te following organisations provide information about Williams
syndrome and support for parents, professionals and other
interested people.
Users should be aware that websites are not vetted for the quality
of their information. Some may be sponsored by the pharma-
ceutical industry or other commercial organisations. Terapeutic
Guidelines Limited accepts no responsibility for the currency or
accuracy of the information found at these or linked websites.
Williams Syndrome Association of South Australia
Williams Syndrome Family Support Group (Victoria)
Williams Syndrome Association (USA)
Williams Syndrome Foundation (UK)
I am a doctor. What should I know? [Doctors resources for Williams syndrome. Website].
Troy, Michigan: Williams Syndrome Association. Accessed July 2012.
Annaz D, Hill CM, Ashworth A, Holley S, Karmiloff-Smith A. Characterisation of sleep
problems in children with Williams syndrome. Res Dev Disabil 2011;32(1):164-9.
Ashkenas J. Williams syndrome starts making sense. Am J Hum Genet 1996;59(4):
756-61.
Burn J. Williams syndrome. J Med Genet 1986;23(5):389-95.
Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, et al. Hemizygosity at the
elastin locus in a developmental disorder, Williams syndrome. Nat Genet 1993;5(1):11-6.
Gosch A, Pankau R. Personality characteristics and behaviour problems in individuals of
different ages with Williams syndrome. Dev Med Child Neurol 1997;39(8):527-33.
Lopez-Rangel E, Maurice M, McGillivray B, Friedman JM. Williams syndrome in adults. Am
J Med Genet 1992;44(6):720-9.
Martens MA, Wilson SJ, Reutens DC. Research Review: Williams syndrome: a critical
review of the cognitive, behavioral, and neuroanatomical phenotype. J Child Psychol
Psychiatry 2008;49(6):576-608.
Morris CA, Leonard CO, Dilts C, Demsey SA. Adults with Williams syndrome. Am J Med
Genet Suppl 1990;6:102-7.
Pober BR. Williams-Beuren syndrome. N Engl J Med 2010;362(3):239-52.
Stromme P, Bjornstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child
Neurol 2002;17(4):269-71.
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Disability resources 355
Disability resources
People with disability need opportunities and choices in all areas
of life, including education, employment, housing and social
and leisure activities. A range of community support services
(both generic and specifc for disability) is available. Services
vary between states and regions.
Listed below is information for practitioners, people with
developmental disability, their parents and other support
people. Users should be aware that websites are not vetted for the
websites.
Resources for specifc syndromes and disorders are listed at the
end of the relevant chapters.
COMMONWEALTH
Carers Australia
Works with the carers associations in each of the states and
territories to deliver programs and services for carers and
advocate on their behalf.
Centrelink
Access point for payments and services for people with dis-
ability and their families (eg Assistance for Isolated Children
Scheme; Carer Allowance, Payment and Supplement; Child
Disability Assistance Payment; Disability Support Pension;
Mobility Allowance; Pensioner Education Supplement; Youth
Disability Supplement). Assistance fnding a job available
through Disability Employment Services.
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Commonwealth Respite and Carelink Centres
Information centres for older people, people with disabilities
and those who provide care and services. Free and confdential
information on community aged care, disability and other
support services available locally or interstate.
National Council on Intellectual Disability (NCID)
Advocacy and consultative services for people with intellectual
disability and their families.
Telephone (02) 6296 4400
STATES AND TERRITORIES
Access City Hotline
Referral service for solving or easing access problems in the ACT.
Contact point for people requiring information and referrals to
other services.
Telephone (02) 6257 3077
Citizens Advice Bureau ACT
Information, referral and support to all ACT residents by
educating them about their options, rights and responsibilities.
Telephone (02) 6248 7988
Disability ACT
Services for people with disability in the ACT and their families,
carers and friends.
Telephone (02) 6207 1086 or TTY (02) 6205 0888
New South Wales
Centre for Disability Studies (CDS)
Academic centre with an international focus. Clinical, educa-
tional and research activities aimed at improving health services
for adults with disability. Supports generic medical practitioners
caring for the developmental disability population. Can be
contacted for advice or referral.
Telephone (02) 9036 3600
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Disability & Aged Information Service (DAISI)
Free and confdential service giving information on services
and supports for people with disability, aged people and their
families, carers and advocates. Based on far north coast of NSW.
Family and Community Services Ageing, Disability and
Home Care
Services and support to people with a disability, and their
families and carers in NSW.
Telephone (02) 8270 2000
TTY (02) 8270 2167
Information on Disability & Education Awareness Services
(IDEAS)
Information about, and referrals for, services and resources.
TTY (02) 6947 3377
NSW Council for Intellectual Disability (NSW CID)
Represents the interests of people with intellectual disability.
Information about, and referrals for, services and resources.
Health fact sheets available in standard and easy English.
Telephone (02) 9211 1611
Northern Territory
Aged and Disability Services
Information about disability services in the Northern Territory.
Carpentaria Disability Services (CDS)
Inclusive opportunities for people with disability in employment,
training, accommodation and leisure.
Telephone (08) 8945 4977
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Queensland
Department of Communities, Child Safety and Disability
Services (Disability Services)
Help for people with a disability and their families to access
the support and services they need as they move through the
diferent stages of their life.
TTY 1800 010 222
People with Disability
Information about disability services in Queensland.
Telephone 13 74 68
Queensland Centre for Intellectual and Developmental
Disability (QCIDD)
Academic centre that supports people with intellectual disability
via research, teaching and clinical activities.
Telephone (07) 3163 2412
South Australia
Centre for Disability Health, South Australia
Tree clinics in Adelaide developed for clients of Disability SA.
Disability Information and Resource Centre (DIRC)
Information about services, advocacy and support groups.
Telephone (08) 8236 0555
Community Support (Disability)
Information about disability services in South Australia.
Tasmania
Disability and Community Services
Information about disability services in Tasmania.
Advocacy Tasmania Inc.
Advocacy services for people with disabilities.
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Association for Children with Disability (Tas) Inc.
Information, advocacy, and support for Tasmanian families of
children with disability.
Telephone (03) 6231 2466
Shaid (Specialist health care for adults with intellectual
disability) clinic
Calvary Hospital (Hobart). Tertiary-level comprehensive
medical care for adults (18years of age and over) with intellectual
disability.
Telephone (03) 6278 5359
Email r.wallace@calvarytas.com.au
Victoria
(CDDHV)
Academic centre. Clinical, educational and research activities
aimed at improving health outcomes for people with devel-
opmental disability. Supports generic medical practitioners
caring for the developmental disability population. Can be
contacted for advice or referral.
Telephone (03) 9902 4467
Department of Human Services
Financial assistance, accommodation options, community
involvement and other supports and services for people with a
disability, their families and carers.
DiVine
Online community for and by people with a disability.
Victorian Dual Disability Service
Statewide mental health service for people with an intellectual
disability.
Telephone (03) 9288 2950
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Western Australia
People with Disabilities Western Australia (PWdWA)
Peak disability consumer organisation representing the rights,
needs and equity of all Western Australians with physical,
intellectual, psychiatric or sensory disability via individual and
systemic advocacy.
Telephone (08) 9485 8900 or 1800 193 331
Disability Services Commission
Information about disability services in Western Australia.
Telephone (08) 9426 9200 or 1800 998 214
TTY (08) 9426 9315
LOCAL GOVERNMENT
Local councils provide a range of services including home help,
respite care, disabled persons parking permits and recreation.
For information, contact health and aged services at your local
council.
OTHER RESOURCES
Disability aids, products and equipment
Community Equipment Scheme (Tasmania)
Equipment to assist people with a temporary or permanent
disability to live independently and safely in the community.
Continence Aids Payment Scheme (Commonwealth)
Funding to help people with permanent and severe incontinence
pay for continence products.
Individual Support Packages (Victoria)
Funds available to a person to meet their disability-related
support needs.
Technical Aid to the Disabled (TAD) Australia
Not-for-proft voluntary cooperative providing personalised
equipment and advice to people with disability and their carers.
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Genetics information
Te Association of Genetic Support of Australasia Inc
(AGSA)
Support and information for individuals and families afected by
a genetic condition/rare disease.
Centre for Genetics Education
Genetics information for afected people, their family members
and the professionals who work with them.
Genetic Metabolic Disorders Service (GMDS)
New South Wales multidisciplinary consultative diagnostic ser-
vice and clinical care for children and adolescents with inborn
errors of metabolism.
Telephone (02) 9845 3452
Genetics clinics (Te Childrens Hospital at Westmead)
Diagnosis, assessment and genetic counselling of children with
single or multiple congenital anomalies, dysmorphic features,
syndromes, chromosomal disorders, disorders of special senses
or of organ systems, serious developmental delay or unexplained
abnormalities of growth. Adult and prenatal genetics clinics also
held here (same contact details).
Telephone (02) 9845 3273 (initial visit)
Telephone (02) 9845 3205 (subsequent visits)
Genetics in family medicine: the Australian handbook for
general practitioners
Educational resource on genetic medicine for Australian gen-
eral practitioners. Includes patient and family fact sheets to
download.
Genetic Support Council WA (GSCWA)
Peak body for genetic support groups in Western Australia.
Metabolic Dietary Disorders Association
Not-for-proft family support group to help members and
their families manage the complex problems associated with
metabolic dietary disorders.
Telephone (03) 9723 0600 or 1800 288 460
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Online Mendelian Inheritance in Man (OMIM)
Comprehensive website with a focus on genetic conditions.
Victorian Clinical Genetics Services
Diagnosis, risk assessment, management and counselling for
people with genetic conditions in Victoria and Tasmania.
Telephone (03) 8341 6201
Associations
Australian Association of Developmental Disability
Medicine (AADDM)
Network of doctors with an interest in improving the health
status of people with intellectual and developmental disability.
Australasian Society for Intellectual Disability (ASID)
Promotes research and understanding of intellectual disability
and high standards of practice in this feld.
International Association for the Scientifc Study of
Intellectual Disabilities (IASSID)
International and interdisciplinary scientifc nongovernment
organisation, ofcially related to the World Health Organ-
ization. Promotes worldwide research and exchange of infor-
mation on intellectual disability.
National Disability Services
Australian peak body for nongovernment disability services.
Professional Association of Nurses in Developmental
Disability Australia (PANDDA)
National networking and support for nurses working with
people who have developmental disabilities.
Rare diseases
Orphanet
Information about rare diseases.
Ofce of Rare Diseases Research
Website links to a broad range of information about rare diseases,
including defnitions, causes, treatments and publications.
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Te National Organization for Rare Disorders
A federation of voluntary health organisations in the US,
dedicated to helping people with rare orphan diseases and
assisting the organisations that serve them.
Transport
Road transport schemes may provide subsidised transport,
including reduced taxi fares for people with disability. Tese
schemes difer from state to state.
New South Wales
Taxi Transport Subsidy Scheme
Provides subsidised travel by taxi at half fare for NSW residents
who are unable to use public transport because of a qualifying
severe and permanent disability.
Disability Hire Vehicles (Sydney)
Provides adapted vans to carry people with wheelchairs, and
cars with radial hand controls, lef foot accelerators and other
adaptions.
Telephone (02) 4577 2225
Victoria
Multi Purpose Taxi Program
Provides subsidised travel by taxi at half fare for Victorians with
a severe and permanent disability.
TTY 133 677
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Index
Index
A
AAC see augmentative and
alternative communication
ABA see applied behaviour analysis
Aberrant Behaviour Checklist 159
abuse 44
of adolescent 85
adolescents with
developmental disability 7994
challenging behaviour 90
Down syndrome 291
health and social concerns 816
checklist (table) 81
leaving
home 93
school 92
psychosocial changes 87
pubertal disorders (table) 84
role of general practitioner 79
adults with developmental
disability
health care 95111
disorders
cardiovascular 117
endocrine 107
epilepsy 21019
gastrointestinal 102
genitourinary 105
musculoskeletal 110
psychiatric 175209
respiratory 101
skin 110
vision and hearing 100
genetic review 96
advance health directives 46
advocacy
doctors role 1014
family and other support people 11
government departments 12
public hospital system 12
case example 13
investigations 35
aged care see older people with
Ages and Stages Questionnaire 58
aggression 170
agitation 173
aided communication systems 23
alcohol-related
neurodevelopmental disorder 297
Alcohol Use Disorders
Identication Test 297
alternative therapies 7
Alzheimer disease 120
androgen deciency 142
cause 250
characteristics (table) 252
diagnosis 251
management 253
resources 253
antiepileptic drugs 214219
adverse effects 217
aggression 172
bipolar disorder 203
oral contraceptive pill 133, 134
antipsychotic drugs see also
psychotropic drugs
outward 171, 173
self-directed 170
schizophrenia and related
psychoses 207
anxiety and associated disorders
assessment 179
management 194
applied behaviour analysis 159
anxiety 196
autism spectrum disorder 261
ARND see alcohol-related
neurodevelopmental disorder
ASD see autism spectrum disorder
Asperger disorder 258
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bipolar disorder (cont.)
management
acute mania 202
bipolar depression 204
maintenance therapy 204
mixed episodes and rapid
cycling bipolar disorder 204
Brigance Developmental
Screening Tool 58
C
cardiovascular disease 117
CBT see cognitive
behavioural therapy
cerebral palsy 26682
ageing 280
associated
health problems 27380
musculoskeletal effects 276
impairments 271
resources 281
CGH array see comparative
genomic hybridisation array
adolescent 90
assessment and
management 148164
causes 149
data sheet for monitoring (table) 159
history taking (table) 155
safety 153
child 77
drug therapy 16574
aggression 170
agitation 173
behavioural emergencies 168
drug treatment plan 167
questions before prescribing (box) 166
self-injury 169
stereotyped behaviour 170
CHAP see Comprehensive
Health Assessment Program
children with developmental
disability
assessment 5769
ASQ see Ages and
Stages Questionnaire
assessment, developmental
delay and disability 5769
assessment approach 62
history information (table) 64
causes (table) 60
manifestation 60
delayed development (table) 62
normal development (table) 61
referrals (table) 67
atlantoaxial instability 287
AUDIT see Alcohol Use
Disorders Identication Test
augmentative and alternative
communication 22
autism, atypical 258
Asperger disorder 258
atypical autism 258
autistic disorder 258
characteristics 256
diagnosis 260
management 260
prevalence 255
resources 263
autistic disorder 258
B
Bayley Scales of Infant
Development 65
behaviour, challenging see
behavioural assessment interview
form 155
behavioural emergencies 168
behavioural therapy 189
benzodiazepines
anxiety and associated disorders 197
bereavement 123
beta blockers
aggression 172
bipolar disorder
assessment 183
observable features of hypomania
and mania (table) 184
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constipation 104
older people 118
consultation (general practice) 2937
case example 36
communication 17
history taking 31
information needed (box) 33
investigations 35
legal concerns 3849
medications 35
physical examination 34
reception and booking 29
consumer support groups 74
additional information 355363
Contextual Assessment
Inventory 159
contraception 247
female 133
antiepileptic drugs 133, 134
emergency 136
hormonal 133
sterilisation 135
male 248
cryptorchidism 143
D
DC-LD 175
decision-making
for adults 39
for children 38
delayed puberty
boys 142
girls 131
delirium 119
delusions 184
dementia 120
dental problems 2403
depot medroxyprogesterone
acetate
contraception 134
menstrual suppression 139
depression
assessment 180
observable features (table) 182
management 198
older people 123
children with developmental
disability (cont.)
assessment (cont.)
approach 62
history information (table) 64
causes (table) 60
manifestation 60
delayed development (table) 62
normal development (table) 61
referrals (table) 67
health problems 76
Down syndrome, monitoring
(table) 292-3
management 708
interventions (table) 72
support services 72
clomipramine
agitation 173
clozapine
psychosis therapy 208
COCP see oral contraceptive pill
cognition
antiepileptic drugs 218
assessment tools 65
cognitive behavioural therapy 189
communication 1528
at a consultation 17
augmentative and alternative 22
complex needs 227
facilitated 24
optimal 20
resources 27
skills of people with
comparative genomic hybridisation
array 66
complex communication needs 22
Comprehensive Health
Assessment Program 34
congenital heart disease
child 77
Down syndrome 286
Noonan syndrome 323
consent to medical treatment
adult 41
child 38
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education see school
elderly people see older people with
electroconvulsive therapy 201
emergencies, behavioural 168
emergency contraception 136
endometrial ablation 140
enduring guardianship and
power of attorney 46
enteral nutrition
dysphagia 237
underweight 225
epilepsy 21019
contraception 133, 134
diagnosis 210
Lennox Gastaut syndrome
indicators (box) 213
management 213
antiepileptic drug therapy 214
adverse effects 217
status epilepticus 219
sudden unexpected death in 214, 215
equipment, special 74
erectile dysfunction 144
ethical decision-making
framework for dysphagia (box) 238
etonogestrel implant 135
exercise 145
older people 114
F
facilitated communication 24
family support services 72
family systems therapy 190
FASD see fetal alcohol
spectrum disorder
FAS see fetal alcohol syndrome
fetal alcohol spectrum disorder 295
fetal alcohol syndrome 295300
cause 295
diagnosis 296
management 297
resources 299
nancial support 73
fragile X premature ovarian
insufciency 304
development
normal (table) 61
delayed (table) 62
Developmental Behaviour
Checklist 159
health care 6
assessment 5769
causes 58
denition 1
population characteristics 3
resources 35563
diabetes 109
Down syndrome, monitoring
(table) 98
dialectical behaviour therapy 189
dignity of risk 5
disability
developmental see developmental
disability
intellectual (denition) 2
discrimination 45
DM-ID 175
DMPA see depot
medroxyprogesterone acetate
DNA studies
fragile X syndrome 305
Down syndrome 28394
cardiovascular disease 117
functional decline 290
dementia 120
differential diagnosis (table) 121
health care and concerns 28491
monitoring child (table) 292
resources 293
Dravet syndrome 213
DSM-IV-TR 175
duty of care 45
dysphagia 2309
assessment 232
management 235
decision-making framework (box) 238
presentation 231
E
early intervention 75
ECT see electroconvulsive therapy
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genetic testing
adult review 96
child 66
genitourinary disorders 105
cerebral palsy 275
genome-wide microarray 66
gestures 22
GMFCS see Gross Motor Function
Classication System
GORD see gastro-oesophageal
reux disease
GP see general practitioner
Grifths Mental Development
Scales 65
Gross Motor Function
Classication System 268
growth hormone 329
guardian for adult 43
gum disease 242
gynaecological disorders 137
H
hallucinations 185
health care 6
adolescent 8186
adult 9599
child 76
checklist, Down syndrome
(table) 292
key principles 4
men 1427
older people 11525
oral 2403
preventive 1457
older people 114
women 136
women 13041
health record, personal 34
hearing
adult 100
older people 116
child 76
Down syndrome 288
Helicobacter pylori 104
hernia, inguinal 106
management 307
presentation
full mutation 302
premutation 304
resources 312
strengths of people with syndrome 311
testing 305
fragile X tremor ataxia syndrome 304
frailty 113
functional decline 120
cerebral palsy 280
Down syndrome 290
differential diagnosis (table) 121
FXPOI see fragile X
premature ovarian insufciency
FXTAS see fragile X
tremor ataxia syndrome
G
gastro-oesophageal reux
disease 103
dental erosion 242
gastrointestinal disorders 102
cerebral palsy 274
Down syndrome 286
generalised anxiety disorder 179
general practitioner
advocacy 1014
consultation 2937
case example 36
communication 17
history taking 31
information needed (box) 33
investigations 35
legal concerns 3849
medications 35
reception and booking 29
role in health care 6
adolescent 79
adult 96
cerebral palsy 270
child 77
dysphagia 233
older people 112
sex education 244
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lithium
aggression 172
agitation 173
lng IUS see intrauterine contraceptive
device (levonorgestrel-releasing)
lower urinary tract symptoms (men)
106
M
Makaton see signs, word
mania, acute
management 202
masturbation 245
medication 35
review 146
older people 115
medroxyprogesterone acetate,
depot see depot
medroxyprogesterone acetate
men with developmental
disability
health care 1427
androgen deciency 142
cryptorchidism 143
delayed puberty 142
erectile dysfunction 144
inguinal hernia 106
testicular surveillance 143
menopause 141
menstrual
disorders 137
education 131
suppression 138
mental health see psychiatric
disorders
microarray, genome-wide 66
mineral deciency 228
Mini-Mental State Examination 120
mixed episodes 183
MMSE see Mini-Mental
State Examination
mood disorders
assessment 180
management 198
homosexuality 247
hysterectomy 140
I
ICD-10 175
ICF see International Classication of
Functioning, Disability and Health
immunisation 146
implant, etonogestrel 135
incontinence, urinary
adult 105
older people 118
informing parents of childs
disability 506
childs age at diagnosis
birth 53
later in life 55
general principles 50
inguinal hernia 106
denition 2
International Classication of
Functioning, Disability and Health 3
intrauterine contraceptive device
(levonorgestrel-releasing) 135
IUCD see intrauterine contraceptive
device (levonorgestrel-releasing)
L
least restrictive alternative 5
legal concerns 3849
abuse 44
advance health directives 46
decision-making for
adults with impaired capacity 39
children 38
discrimination 45
duty of care 45
enduring guardianships and
powers of attorney 46
resources (contact information) 4749
sexual offending behaviour 46
Lennox Gastaut syndrome
indicators (box) 213
life expectancy
Down syndrome 283
intellectual disability 4
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oral contraceptive pill 134
antiepileptic drugs 133, 134
oral health 2403
cerebral palsy 273
dental
caries 241
erosion 242
malocclusion 242
dysphagia 236
periodontal disease 242
resources 243
tooth cleaning 240
osteoarthritis
older people 124
osteomalacia 108
osteoporosis 107
Down syndrome 287
older people 124
progestins (long-term) 139
overweight see obesity
P
panic disorder 179
Papanicolaou (Pap) smear 136
parents
approach during childs
assessment 63
informing of childs disability 507
legal concerns 38
support groups 74
additional information 35563
Parents Evaluation of
Developmental Status 578
Parkinsons disease 119
PDDNOS see pervasive developmental
disorder not otherwise specied
PEDS see Parents Evaluation of
Developmental Status
periodontal disease 242
pervasive developmental
disorder not otherwise specied 259
phobic disorders 180
biopsychosocial concerns 333
musculoskeletal disorders 110
cerebral palsy 276
Down syndrome 287
older people 124
N
neurobromatosis type 1 31420
cause 315
characteristics 315
diagnosis 315
management 317
resources 320
NF1 see neurobromatosis type 1
Noonan syndrome 3215
cause 321
characteristics 322
diagnosis 322
management 324
normalisation 4
nutritional disorders 2209
celebral palsy 275
deciencies, vitamin and mineral 228
overweight or obesity 225
underweight 221
enteral nutrition 225, 237
weight assessment 221
O
obesity 225
obsessive compulsive disorder 180
older people with
cerebral palsy 280
clinical assessment 112
Down syndrome 290
health concerns 11525
common conditions (box) 115
mental health 11923
skin and temperature
homeostasis 1245
swallowing ability 118
living
at home 125
in aged care facilities 127
preventive health 114
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psychiatric disorders (cont.)
older people 119
risk factors (table) 176
psychological therapies see therapy,
psychological
psychosis see schizophrenia and
related psychoses
psychotherapy see also therapy,
psychological
psychodynamic 190
supportive 190
psychotropic drugs
investigations before starting
treatment 191
key points (box) 192
precautions in prescribing 193
withdrawing treatment 194
puberty 84
associated disorders (table) 84
delayed
boys 142
girls 131
R
reception and booking
procedures 29
resources, disability 35563
Commonwealth 355
local government 360
other
associations 362
disability aids and equipment 360
genetics information 361
legal 47
rare diseases 362
transport 363
states and territories
Australian Capital Territory 356
New South Wales 356
Northern Territory 357
Queensland 358
South Australia 358
Tasmania 358
Victoria 359
Western Australia 360
Prader-Willi syndrome (cont.)
health problems 32833
growth hormone 329
obesity 330
resources 335
pregnancy 140
Down syndrome 290
preventive health care 1457
exercise 145
immunisation 146
medication review 146
nutrition 147
older people 114
smoking 147
women 136
progestins
contraception 1336
psychiatric disorders
adolescent 85
assessment 17586
anxiety and associated
disorders 179
collateral information (box) 178
diagnostic criteria 175
history taking (box) 179
investigations (box) 177
mood disorders 180
depression features (table) 182
hypomania and mania
features
(table) 184
psychoses 184
management 187209
anxiety and associated
disorders 194
key points 187
mood disorders
depression 198
psychological interventions 188
psychotropic drug use 191
key points (box) 192
psychoses 206
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respiratory disorders
adult 101
cerebral palsy 273
Down syndrome 288
Rett syndrome 33843
cause 338
characteristics 339
diagnosis 338
management 341
resources 342
S
saliva control 236
psychoses
assessment 184
management 206
acute psychotic episode 206
maintenance therapy 208
school
adolescent 91
choice of 76
leaving 92
seizures see epilepsy
selective serotonin reuptake
inhibitors
aggression 171
agitation 173
anxiety and associated disorders 197
depression 200
self-injury 169
sexual behaviour
inappropriate 245
offending 46
sexual expression 2449
adolescent 88
contraception 247
homosexuality 247
inappropriate behaviour 245
masturbation 245
resources 248
signs, word 23
skin
cerebral palsy 273
neurobromatosis 315
older people 1245
tuberous sclerosis 346
smoking 147
social role valorisation 4
SSRIs see selective serotonin
reuptake inhibitors
Stanford Binet Intelligence Scales 65
status epilepticus 219
stereotyped behaviour 170
sterilisation (female) 135
substitute decision-maker 39
sudden unexpected death
in epilepsy 214, 215
SUDEP see sudden unexpected
death in epilepsy
support
contact information 35563
equipment 74
nancial 73
groups 74
support person (denition) 2
T
T-ACE see Alcohol Use Disorders
Identication Test
tardive dyskinesia
(psychosis therapy) 208
TEACCH program 261
teenagers see adolescents with
testes
surveillance 143
undescended 143
therapy, psychological 188
anxiety 195
depression 199
thought disorder 185
thyroid disorders 109
Down syndrome, monitoring in
(table) 98
hypothyroidism in older people 123
tooth care 2403
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tuberous sclerosis 3449
cause 344
characteristics 346
diagnosis (table) 345
management 348
resources 349
U
unaided communication
systems 22
underweight 221
enteral nutrition 225, 237
undescended testes 143
urinary
incontinence 105
older people 118
tract
infection 105
lower, symptoms in males 106
V
valorisation, social role 4
Vineland Adaptive Behaviour
Scale 120
vision
adult 100
older people 116
child 76
Down syndrome 288
vitamin deciency 228
W
Wechsler Intelligence Scales 65
weight
assessment 221
over- 225
under- 221
cause 350
characteristics 351
diagnosis 350
management 353
resources 354
women with developmental
disability
health care 13041
contraception 133
women with developmental
disability (cont.)
health care (cont.)
gynaecological disorders 137
menopause 141
menstrual
disorders 137
education 131
suppression 138
pregnancy 140
Down syndrome 290
puberty, time of onset 131
word signs see signs, word
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Management Guidelines: Developmental Disability,
version 3, 2012
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Te term intellectual disability is recommended by the World

Information on the Parents Evaluation of Developmental Status (PEDS) screening test

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Te prevalence is higher in people

Tis system gives

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