Angelman Syndrome

Our bodies are made up of trillions of cells.

In each cell, there are tiny structures called “Chromosomes”.

Most of us receive 23 chromosomes from our mother, known as the maternal copy, and 23 chromosomes from our father, known as the paternal copy (46 in total).

In one part of chromosome 15 there is a gene called Ubiquitin Protein Ligase E3A (UBE3A). UBE3A helps our brain to develop.

Typically, the paternal copy of UBE3A is silent and the maternal copy of UBE3A is active.

When someone is diagnosed with Angelman Syndrome, it means there’s an issue with the maternal copy of UBE3A. This happens randomly and does not mean it was inherited by the mother.

There are 4 types of Angelman Syndrome:

1. Deletion positive: This means the person’s maternal copy of UBE3A is not there.  

2. Mutation: This means the person’s maternal copy of UBE3A has been changed.

3. Imprinting Center Defect: This means the person’s maternal copy of UBE3A is silent.

4. Paternal Uniparental Disomy (UPD): This means the person has 2 paternal copies of UBE3A, and no maternal copy.

Angelman Syndrome involves a wide range of symptoms and severities which means that every person will present differently.

Signs in children usually appear at 6-12 months of age.

Symptoms in children and adults can include:

• Frequent smiling and laughter

• Appearing happy all the time

• Physical features

  • Small head

  • Wide mouth

  • Light coloured hair, skin, and eyes

  • Spaced out teeth

• Delayed development

  • Not crawling or babbling

  • Difficulty sucking or feeding

• Having an Intellectual Disability

• Limited speaking or not speaking

• Seizures or epilepsy 

• Hand-flapping movements

• Short attention span

• Being very active

• Difficulty sleeping

• Fascination with water

• Making jerky movements

• Difficulty with walking and balancing

• Gastrointestinal issues, such as constipation

• Scoliosis (a curved spine)

• Sensitivity to heat

• Problems with weight

• Problems with eyesight

Angelman Syndrome happens randomly and there is no research to explain why someone is born with a problem with UBE3A.

Angelman Syndrome can be diagnosed before birth with prenatal tests.

After birth, Angelman Syndrome can be confirmed with a blood test.

While there is no cure for Angelman Syndrome, diagnosis and specifically tailored treatment are important for improving quality of life.

Services available to help with Angelman Syndrome include:

Physiotherapist: A Physiotherapist can help improve posture, balance, and movement.

Psychology: A Psychologist can help to develop emotion regulation skills.

Positive Behaviour Support: A Behaviour Support Practitioner can help to understand behaviours of concern, provide strategies, and build skills.

Occupational Therapy: An Occupational Therapist can support independence and participation in daily life.

Speech Pathology: A Speech Pathologist will focus on developing communication skills.

1. Angelman Syndrome occurs at random, and it is not a condition that can be passed down from parent to child.

2. Angelman Syndrome shares some of the same symptoms as Autism Spectrum Disorder.  

Angelman Syndrome Australia

https://angelmansyndrome.org/angelman-syndrome/

Angelman Syndrome Foundation

https://www.angelman.org/what-is-as/

https://www.angelman.org/what-is-as/genetics-of-angelman-syndrome/  

Better Health

https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/angelman-syndrome

Cleveland Clinic

https://my.clevelandclinic.org/health/diseases/17978-angelman-syndrome

Health Direct

https://www.healthdirect.gov.au/angelman-syndrome

Mayo Clinic

https://www.mayoclinic.org/diseases-conditions/angelman-syndrome/symptoms-causes/syc-20355621

Medline Plus

https://medlineplus.gov/genetics/condition/angelman-syndrome/#causes

National Institute of Neurological Disorders and Strokes

https://www.ninds.nih.gov/health-information/disorders/angelman-syndrome

National Library of Medicine

https://www.ncbi.nlm.nih.gov/books/NBK1144/

Raising Children

https://raisingchildren.net.au/guides/a-z-health-reference/angelman-syndrome

Victorian Clinical Genetics Services

https://www.vcgs.org.au/tests/angelman-syndrome/