ANGELMAN SYNDROME

A SEMINAR PRESENTATION

BY

PAEDIATRICS UNIT
PHYSIOTHERAPY DEPARTMENT
FEDERAL MEDICAL CENTRE, OWERRI

16TH MARCH, 2022

Introduction

Angelman Syndrome is a genetic

condition that affects the nervous system
and causes severe physical and learning
disabilities (NHS, 2019).
It is usually caused by problems with a
gene located on chromosome 15 called
the ubiquitin protein ligase E3A
(UBE3A) Gene (MFMER,1998).

Normally, only the maternal copy of the

UBE3A gene is active in the brain. Most
cases of Angelman Syndrome occur
when part of the maternal copy is
missing or damaged.
In a few cases, Angelman Syndrome is
caused when two paternal copies of the
gene are inherited, instead of one copy
from each parent.

Angelman Syndrome affects 1 in 12,000

to 20,000 people, Males and females are
affected with equal frequency (Williams
et al, 2010). It is named after British
pediatrician Harry Angelman, who first
described the syndrome in 1965
(Wikipedia, 2022).
People with Angelman Syndrome tend
to live close to a normal life span but the
disorder canot be cured (MFMER,
1998).

Angelman Syndrome may be inherited

from a parent. A family history of the
disease may increase a baby’s risk of
developing Angelman Syndrome
(MFMER, 1998).
Angelman Syndrome shares symptoms
and characteristics with other disorders
including autism, cerebral palsy, and
Prader-Willi’s syndrome.

Due to the common characteristics,

misdiagnosis occurs often (ASF, 2022).
Signs and Symptoms
 Developmental delays including no
crawling or babbling at 6 to 12 months
 Intellectual disability
 No speech or minimal speech
 Difficulty walking, moving or
balancing well
 Frequent smiling and laughter
 Happy excitable personality
 Sucking or feeding difficulty
 Trouble going to sleep and staying
asleep
 Seizures usually beginning between 2
and 3 years of age
 Stiff or jerky movements
 Small head size with flatness in the back
of the head
 Tongue thrusting
 Hair, skin and eyes that are light in
colour
 Unusual behaviours such as hand
flapping and arms uplifted while walking
 Curved spine scoliosis
(MFMER, 1998)
Diagnosis
In order to confirm a suspected
diagnosis, genetic testing must be
completed via blood tests such as DNA
methylation (Margolis et al, 2015).

These tests may review

 Parental DNA pattern: This test
screens for three of the four known
genetic abnormalities that causes
Angelman Syndrome
 Missing chromosome – A
chromosomal microarray (CMA) can
show if portions of chromosomes are
missing

 Gene mutation – if results from a

DNA methylation test are normal, the
doctor may order a UBE3A gene
sequencing test to look for a maternal
mutation.
Treatment

 Current treatment focuses on

managing the medical and
developmental problems

 A multidisciplinary team of health

care professionals are involved in the
management of this condition
Depending on the child’s signs and
symptoms, treatment for Angelman
Syndrome may involve:

 Anti-seizure medication to control

seizures
 Communication and speech therapy
 Behaviour therapy to help overcome
hyperactivity and short attention span
 Medications and sleep training to
manage sleep issues. (MFMER, 2018).
 Occupational therapy – play, a key
role in treating fine motor skills and self
management skills to perform activities
of daily living

PHYSIOTHERAPY
 Encourage mobility to prevent
contractures and to improve bone
density. Stationary bicycles have shown
to be effective. (Physiopedia, 2018).
 Monitor for scoliosis – Good
management of posture can help prevent
or alleviate scoliosis. A thoracolumbar
jacket may be beneficial.
 Treatment to target motor skills and
balance training – A case study suggests
using a protocol in which the patient is
sitting or standing on different supports
and having to perform upper extremity
functional tasks.
 Improve co-ordination during
walking and grasping objects
(Physiopedia, 2023).
REFERENCES
Margolis, S.S., Sell G.L Zbinden M.A, Bird L.M;
Angelman Syndrome. Neurotherapeutics 2015 July
1: 12(3): 641-50.
Mayo, Foundation for Medical Education and
Research (MFMER 1998-2022).
Williams C.A., Drisco D.J, Dayli A.I; Clinical and
genetic aspects of Angelman Syndrome. Genetics in
medicine; 2010. July: 12 (7) 385.
www. angelman syndromefoundation.org
www.nhs.uk/conditions/ angelman syndrome(2019).
www.physiopedia.com/ Angelman Syndrome
www.wikipedia.org/ Angelman Syndrome