Family centred care for children with Down

Syndrome

Dr Liz Marder
March 2017
 In this talk I will describe

• The Nottingham Down syndrome service

• How we forge a partnership with families
• UK Personal Child health record – Down syndrome chart
• Working with the DSA’s
• Info service
• Journal articles
• Service audit
• Parent satisfaction
 Nottingham Down
Syndrome Children’s Service
 Nottingham Down Syndrome
Children’s Service
Antenatal diagnosis Diagnosis made at birth
Down Syndrome

Information/counselling Initial Visit by Down Syndrome team ASAP

Pregnancy Pregnancy Home visit with HV at approx 2/52

terminated continued

Follow –up arrangements agreed

Following Nottingham Guidelines for
Management of Children with Down Syndrome

Follow up at Follow up Follow up Follow up

Nottingham Down syndrome community Hospital GP
Children’s Clinic paediatrics Paediatrics
 Nottingham Down Syndrome Children’s
Service
Initial Visit

• As soon as possible/appropriate
• Consultant Paediatrican +/-early support nurses +/-neonatal team
• NNU/Postnatal ward or home
• Information re: Down Syndrome and local services
• Welcome Pack- DSA leaflets, PCHR insert, invitations to clinic,
current research
• Parents Book
• Videos re: coming to terms
• Agree follow up plan
 Nottingham Down Syndrome Children’s
Service

• Children’s development centre

• First Wed morning each month
• Drop – in/Booked appointments
• Information office/library
• Children seen at 3,6, 12 months and then annually
Nottingham Down Syndrome Children’s Service
• Staff
• Community/neurodisability paediatricians
• Nurses
• Playteam
• Physio
• SALT
• Dentist available
• Early Education Team
• Links with
• Eye clinics
• CHAC (hearing)
• Paediatric specilaties
• Welfare Rights advice
 Paediatricians
• Initial diagnosis
• Information about the syndrome
• Health issue review following local guidelines
• Medical Examination
• Investigations
• Management of common health problems arising
• Referral for
• Specialist treatment
• Therapy
• Education
• Social care
• Welfare rights
• Parent support/counselling
• Support for benefits, housing, social care/information to other agencies
• Co-ordination of health care
• Support and counselling
• Advocacy
Speech and Language Therapy

• Referred at 9 months
• Earlier referral if there are eating and
drinking concerns.
• initial assessment
• assess the child’s skills
• parents given information about strategies to
promote language development,
• concepts behind using signs
• discussed the planned care pathway.
 .

Speech and Language Therapy

• 12 months 3 x monthly group sessions

• to see strategies to promote communication
development,
• see signs, being used.
• run on the same morning as the Down Clinic
• After group
• home based package of care no more than 3 months
after the last group session.
• If unable to access groups
• home based package of care offered earlier.
• signs and symbols group training sessions for parents.
• Nursery/school entrance
• school-based package of care will be offered
Speech and Language Therapy

• Use resources more effectively

• Research shows that the early introduction of
signs is beneficial.
• Starting earlier with strategies to promote
communication development will also be
beneficial.
• Support parents re: signs and symbols
• promote an approach, which is in accordance
with the Signs and Symbols Network Directory.
• Encourage parents to support each other’s
learning around developing their children’s
communication.
 Physiotherapy
• Referred at first visit
• See any babies at parental request
• First 6/12 early advice re: promoting physical
development
• Ongoing advice and review of motor progress
at parents request
• Specific review of children showing deviant or
particularly delayed development – may go onto
individual case load
• Review of foot posture and gait once walking
• Provision of walking aids, orthoses or specialist
footwear as appropriate
 Nursing staff
• Clinic support
• Measuring
• Blood taking
• Parent support
• Advice on specific issues e.g.
• Feeding
• Toileting
• Provision of infomration
• Support for DLA etc.
• Familiar face for other clinics
 Nursery nurses/play team

• Occupy patients and siblings!

• Model play and toys
• Toy library
• Advice re: available groups
 Information service
• Particularly relevant leaflets, books laid out Full library
loans service including
• Books
• Videos
• Leaflets
• Information prescriptions
• Information officers available to research on specific
issues
• Health
• Benefits
• Local resources
• Information service for professionals
• Links with DSMIG Information service
Other services available at clinic
• Dentist available alternate months
• Sees all children around 2 years
• General advice on tooth development and hygeine
• Advise on accessing local dental services
• Medical subspecialties – to be developed
• Immunology
• Respiratory/sleep
• Cardiology
• Welfare Rights advisor
• Bookable appointments
• Help with DLA claims
Services available at other times

• Childrens hearing assessment team

• Regular surveillance according to protocol
• Ophthalmology /orthoptics
• All children referred at 2
• Earlier referral for specific problems
• Medical specialties
• Neonatal team
• Neurology
• Orthopaedics
• Genetics
Guidelines for the
Management of
Children with
Down Syndrome
in Nottingham

Updated January
2015
Nottingham Down syndrome
Children’s service
Reviews at
Birth ( postnatal ward or baby unit)
2-4 weeks (home visit)
3months
6 months
1 year
then annually
Discussion with Family- Birth visit
Introduction
Both parents, baby present, private space
Congratulate them
Find out what they know
Be positive!
Cause and recurrence
Features of Down syndrome
Physical
Medical
Development
Health care provision
Education
Prognosis as an adult
Social support
Benefits
 3 month review
Medical History Discussion
• Feeding Chromosome results and
• Bowels recurrence risks
• Cardiac
Cardiology results
• Hearing and vision
Immunisation
• Infections – unusual or recurrent
Benefits
Examination Family adjustment
 General
 Eyes -cataracts, squint, Referrals
nystagmus and visual behaviour.  Physiotherapy
 Growth – Down syndrome chart  Speech Therapy if feeding
 Development concerns
Genetic counselling if parents wish
 6 month review
Medical History Discussion
• Feeding Parental concerns
• Bowels
Immunisation- advice re influenza
• Cardiac
vaccination
• Hearing and vision
Benefits if not already applied
• Infections – unusual or recurrent
Family adjustment
Examination
 General Referrals
 Eyes -cataracts, squint,  Physiotherapy
nystagmus and visual behaviour.  Speech Therapy for all
 Growth – Down syndrome chart Hearing screening
 Development Preschool education team
 1 Year review
Medical History Discussion
• Feeding/weaning
Parental concerns
• Bowels
Immunisation- advice re influenza
• Cardiac
vaccination
• Hearing and vision
Benefits if not already applied
• Infections – unusual or recurrent
• Sleep
Family adjustment
Immunisation
Examination Therapy
 General education
 Eyes -cataracts, squint,
nystagmus and visual behaviour Referrals/Investigations
• ENT
 Audiological assessment
• Neurology – cervical spine
 Thyroid function tests
 Growth – Down syndrome chart  Immune function ( at least 4 weeks after
 Development completion of primary immunisation course)
Sleep study - oximetry
 2 Year review
Medical History Discussion
• Feeding/weaning Prental concerns
• Bowels Immunisation- influenza
• Cardiac vaccination and pneumovax II
• Hearing and vision
Benefits if not already applied
• Infections – unusual or recurrent
Family adjustment
• Sleep
Therapy
Examination education
 General
 Eyes -cataracts, squint, Referrals/Investigations
nystagmus and visual behaviour ophthalmology
• ENT  Audiological assessment
• Neurology – cervical spine  Thyroid function tests
 Growth – Down syndrome chart  Immune function ( at least 4 weeks after
 Development completion of primary immunisation course)
Sleep study - oximetry
 3 Year/preschool review
Medical History Discussion
• Feeding/weaning Parental concerns
• Bowels Immunisation- influenza vaccination
• Cardiac and pneumovax II
• Hearing and vision Benefits if not already applied
• Infections – unusual or recurrent Family adjustment
• Sleep Immunisation
Therapy
Examination Education
 General
 Eyes -cataracts, squint, Referrals/Investigations
nystagmus and visual behaviour ophthalmology
• ENT Audiological assessment
• Neurology – cervical spine Thyroid function tests
 Growth – Down syndrome chart Hip xray if not walking
 Development Sleep study – oximetry
 School Age Reviews
• Annual reviews
• Usually done in local community paediatric clinic or in school
for those attending special schools
• Follow the Guidelines used in the Down syndrome service
• Advice to the local team for Down syndrome team as required
• Review in the Down syndrome clinic for more complex
problems e.g. suspected dual diagnosis with ASD or ADHD,
regression,
• Linked with any review processes arranged by education or
social care
 School aged review
Medical History Discussion
General health Parental concerns
Bowels Immunisation- influenza vaccination
Cardiac and pneumovax II
Hearing and vision Access to community activities
Infections – unusual or recurrent Educational progress
Sleep
Dental Referrals/Investigations
Puberty and menstruation • Optician/ophthalmology
• Audiology
Examination • Thyroid function
General • Low threshold for TTG, Blood count
ENT if clinically indicated
Neurology – cervical spine • Sleep study if clinically indicated
Signs of thyroid disorder
Growth – Down syndrome chart
Posture and gait
 Transition/School leaver reviews
• From 17 years , and complete by 19 years or school leaving
• Offer opportunity for young person to attend alone

Medical History Discussion

As before plus Review of health to date.
Pubertal issues /periods Requirements for ongoing care
Sexual health DSA Adult health book
Preparation of medical report for GP, carers
and young person.
Examination Consent and autonomy
As before Further education and adult placements.

Investigations Referrals
Audiology Primary care team for annual review
Vision Adult intellectual disability team if mental
Thyroid function health concerns
Echocardiogram Adult specialists as required
Social care transition co-ordination
 Benefits of a Down Syndrome Specific Children’s
Service –for children and families
my own opinion!
• Parents feel reassured that there is a service tailored to their child
• Don’ t feel they have to justify their Child’s right to services
• Can receive care from staff who are knowledgeable about and
interested in Down syndrome
• We help parents to understand health problems associated with Down
syndrome and know what proactive care they need provided for their
child in the future
• Build strong relationships with staff as we are there from the
beginning
• Teach parents to navigate the health services that they are likely to
need in future
• Reduce the number of appointments needed at different times and
places
• Provide opportunities for them to meet with and learn form other
parents
 Benefits of a Down Syndrome Specific Children’s
Service –for professionals
my own opinion!
• Opportunity to work with and learn from some wonderful families
and children
• Become expert in a relatively small field
• Efficient to offer different services at the same time
• Good communication between services delivering care side by side
• Great opportunities for teaching
• Complete population to facilitate research
• Families become empowered to use health services effectively
 Wonderful to go to a
And the parents said …………………….. central place for expert
advice

A gateway to all the

help available Great to have
everything
Very pleased with under one
the service roof
I felt totally
supported
Saves having to make
multiple visits

Good to see everyone

Good to know someone Service is
necessary in one
is there for us even if we informative and
session and ensure
don’t use it often relaxed
they are not missed
by a dept .whose
knowledge and
support may help
improve theirquality
of their life
 Health care needs for pre-school
children with Down syndrome –
audit and evaluation of a regional
UK service

Louise Witham
Medical Student, Nottingham Medical School
August 2012
 AIM

To evaluate the service provided to children with

Down Syndrome in Nottingham, from both a clinical
audit and user satisfaction point of view.
 METHOD
QUESTIONNIARE
A questionnaire was created for parents/carers of children with Down
Syndrome. It covered the following areas:
• Delivery of diagnosis
• Initial visit from the Down Syndrome team
• The Down Syndrome clinic
• Healthcare outside the Down Syndrome clinic
• Information services

Target population: Distribution:

Parents/carers of children with Down Syndrome Questionnaires were handed out in clinic.
Under 11 years Respondents were also contacted by telephone
In Nottingham area to complete the questionnaire
 RESULTS
RESPONSE RATES

Audit Questionnaire
55 audits and 32 questionnaires were completed.
60 children met criteria for 132 children met criteria
inclusion for inclusion
Sample of 50 was created
5 children had moved out Response rate was 64%
of the area (clinic and phone)

55 children were audited 32 questionnaires were

completed
 Results
Demographics
Age Age
25
20
15
Percentage

10
5
0
0-1 1-2 2-3 3-4 4-5 5-6 6-7 7-8 8-9 9-10 10-
11
Age range White British

Ethnicity White and Black Caribbean

Ethnicity Black African
Pakistani
Other Asian Background
Other Mixed Background
 RESULTS
QUESTIONNAIRE- INITIAL VISIT FROM THE DOWN
SYNDROME TEAM

The initial visit is a major part of the Nottingham service.

Parents are offered a visit in the neonatal period, as soon as their child is diagnosed.

Overall, did you find the initial visit

Aims: from the Down Syndrome team
-meet and congratulate family useful?
-introduce family to the service.

Information is provided about:

-the cause of Down Syndrome Yes
-associated medical problems No
-their child’s development and I don't know
prognosis No response
-education
-benefits/social services.
 Results
Questionnaire- The Down Syndrome Clinic
Currently, the clinic is held on a DROP IN basis. Appointments are not booked in advance and
families wait in line to see clinicians.
90.6% of parents/carers said that they prefer this system to a booked appointment system.

31.3% of parents/carers
said they had to wait a long
time in clinic to see the
right person.

Solution: Longer clinic? Solution: Hold clinic Solution: Hold clinic

25.0% of parents agree more often? in the evening?
34.4% of parents agree 0.0% of parents agree
 Results
Questionnaire- The Down Syndrome Clinic

The staff have got to know me and my child well 90.6%

The staff are always welcoming and friendly 100.0%

The clinic is hygienic and clean 100.0%

When decisions are made, my views are taken into account 100.0%

I like being able to see specialists in one place 90.6%

I find talking to other parents in the waiting room helpful and 90.6%
enjoyable
 Results
Questionnaire- Healthcare received outside of Down
Syndrome clinic

34.4% of parents/carers said

they found it hard to manage
appointments outside of the
Down Syndrome clinic.

18.7% felt they had to travel far

to see specialists a long way
away from each other.

Solution: Integration of more

specialities into the
regular clinic?
Immunologist/ cardiologist/ sleep specialist
 Results
Questionnaire- Information services

Families are routinely given:
• DSA leaflet
• Clinic information
• Department for Education/ Department
of Health: Down Syndrome book and
developmental manual
• Free access to the information library at
the Down Syndrome clinic
Parents/ carers said they wanted more
information about:
Support groups (46.9%)
Books and journals (46.9%)
Their child’s education (56.3%)
Their child’s long term future (53.1%)
Benefits and support (50.0%)

Solution: Promote awareness of library and online resources?

IMPROVEMENTS SUGGESTED
FOR THE SERVICE
1. Improve efficiency of review clinics to ensure all areas of healthcare are performing well:
• Use review clinic proformas
• Improve documentation of review clinics
• Consider increasing number of staff

2. Integrate other specialties into the clinic, to improve communication and reduce number
of appointments which families need to attend:
• Cardiologists
• Audiologists
• Sleep specialists
• Immunologist (already being trialled)

3. Improve waiting time at clinic:

• Hold clinic more often
• Extend clinic opening hours
SO – we have a whole programme of proactive
health care surveillance , management of
health problems, and health promotion

How do we ensure Children get it?

Special Insert for
Personal Child Health Record
 • PCHR or Red Book given to all newborns in UK
PCHR Insert for babies born with Down syndrome

• March 2009 DSMIG wrote and launched first edition of the

Special insert for babies born with Down syndrome
• Parents of new babies with Down syndrome need information
• Health professionals caring for babies with Down syndrome need
advice
• DSMIG developed guidelines and information resources, and needed to
disseminate
• Over 2500 inserts sent out year 1 to under 5’s
• Estimate reached 70% o children
• 957 questionairres returned to evaluate
• Changes made following feedback
• 2nd edition 2000, 3rd edition 2011 , updated in 2015
• Still selling well – sales figures would allow almost 3 for each UK
baby !
 • PCHR or Red Book given to all newborns in UK
PCHR Insert for babies born with Down syndrome

• March 2009 DSMIG wrote and launched first edition of the

Special insert for babies born with Down syndrome
• Parents of new babies with Down syndrome need information
• Health professionals caring for babies with Down syndrome need
advice
• DSMIG developed guidelines and information resources, and needed to
disseminate
• Over 2500 inserts sent out year 1 to under 5’s
• Estimate reached 70% o children
• 957 questionairres returned to evaluate
• Changes made following feedback
• 2nd edition 2000, 3rd edition 2011 , updated in 2015
• Still selling well – sales figures would allow almost 3 for each UK
baby !
PCHR Insert for babies born with Down syndrome

It all looks
very
I think it reads very informative,
well, and has a good concise and
supportive tone good

This is really helpful.

I wish it had been
available when G was
born
 Down syndrome. Suggested schedule of essential health checks adapted from PCHR insert for babies with Down syndrome
Birth – 6 weeks Special checks under 2 Preschool checks School age
years

Thyroid Routine TSH capillary From age 1 year thyroid function should be discussed annually using results of either
dry- blood spot test Annual fingerpick TSH test OR
2 yearly venous thyroid blood tests, including thyroid antibodies

Vision Congenital cataract Age 18-24 months: Age 4 years: Formal Repeat vision test every 2 years,
check. Formal ophthalmic ophthalmic or more frequently if recommended
examination including examination including by optometrist/ ophthalmologist
refraction refraction, near and
distant vision

Visual behaviour to be monitored at every review particularly in first year

Hearing Universal newborn Full audiological review Annual audiological 2 yearly audiological review
hearing screen by 10 months - hearing review as before
test, otoscopy and
tympanometry

Growth Length, weight and head circumference should be Height and weight should be checked and plotted on Down
checked frequently and plotted on Down Syndrome Syndrome growth charts at least annually while growing.
growth charts (BMI plotted if concern regarding obesity)

Cardiac Cardiac status and Maintain low threshold for reappraisal of cardiac Heart auscultation for acquired
action plan established status at any time heart disease, as part of routine
by 6 weeks (see text) health checks from adolescence
onwards

Sleep Related Enquire at every review. Low threshold for sleep studies (see text)
Breathing
Disorders

Haematology FBC to check for TMD If TMD, vigilance until age 5

(see text)
 The Down Syndrome Medical
Interest Group (UK and Ireland)
is a group of health professionals
whose aim is to ensure equitable
provision of medical care for all people
with Down syndrome in the UK and
Republic of Ireland.
Down syndrome support organisations

Close collaboration with

• Down’s syndrome association England Wales and Northern Ireland
• Down’s syndrome Scotland
• Down syndrome Ireland
• Down’s Heart group

Collaborative work includes

• Health series – Joint badged between DSA and DSMIG
• Medical advice to the association information teams
• Speakers at each others meetings and workshops
• Contributing medical articles to journals
• Voice of person with Down syndrome/parent in research proposals
• Contribution to guidelines development
DSA Health series
A series of leaflets produced by the Down
syndrome association for parents,carers and
healthcare professionals
www.dsa-uk.com

Jointly produced with DSMIG Others include

Gastrointestinal problems Ageing
Sleep Alzheimer’s
Diabetes bereavement
Eye problems
depression
Neck instability
Oral health care
Thyroid disorder
epileptic spasms Continuing pregnancy with
Sexual health diagnosis of Down syndrome
Down syndrome and childhood deafness
(with NDCS)
Respiratory Issues
Ensure that no-one
suffers
unnecessarily from
treatable symptoms,
or fails to reach
their potential
because of
treatable medical
problems.