ANGELMAN SYNDROME
Angelman syndrome is a rare, complex genetic disorder primarily affecting the nervous system. Common characteristics are developmental delays, intellectual disability, severe speech impairment, problems with movement and balance (ataxia), sleep disorder, high incidence of musculoskeletal problems (eg. scoliosis), gastroenterology complications, and seizures - often accompanied by a very happy, excitable demeanor.
Everyone living with Angelman syndrome is an individual who is much more than just their medical diagnoses. They should be respected and supported to live their best life.
“While persons with Angelman syndrome have a wide range of abilities and different areas of interest, they all share the capacity for making our world a better place.”
What is Angelman
syndrome (AS)?
In the 1960s, English paediatrician, Dr Harry Angelman, recognised a common set of unusual characteristics in 3 children. He published a medical paper in 1965 documenting his observations.
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AS is a rare condition that occurs in approximately 1:15,000
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It affects the 15th chromosome resulting in a severe reduction of expression of the gene UBE3A in the brain. Ubiquitin Protein Ligase E3A is a Protein Coding gene.
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AS is not a degenerative condition. With a healthy and well managed lifestyle, individuals with AS have a normal life expectancy but will require life-long 24/7 care.
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AS affects males and females of all racial/ethnic groups, equally.
What causes Angelman syndrome?
It was only in the early 1990s that genetic testing was developed for what is now known as Angelman syndrome.
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Angelman syndrome is a neuro-genetic disorder that affects the nervous system causing physical and intellectual impairments.
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AS is caused by a severe reduction of expression of a single gene UBE3a in the brain.
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UBE3A is a ubiquitin ligase whose function and targets relevant to AS are still unknown.
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There are 4 ways that Angelman syndrome can occur. These are called genotypes. Each genotype has a different mechanism that results in AS, all involving chromosome 15. Deletion of a segment of the maternal chromosome 15 (del+); a mutation in the maternal copy of the UBE3A gene; paternal uniparental disomy (UPD); and imprinting centre defects (ICD).
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In about 80% of cases clinical diagnosis can be confirmed by laboratory testing.
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Most cases are sporadic but some genetic mechanisms have implications for other family members.
Resources & Studies
on AS
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2020: Clinical aspects of a large group of adults with Angelman syndrome - This is the most comprehensive survey of health issues in adults with AS, including physical examination and in person interviews with caregivers, reported in literature to date.
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Facts About Angelman Syndrome - (ASF)
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Management of Angelman Syndrome A Clinical Guideline - DYSCERNE
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Low glycemic index treatment for seizures in Angelman syndrome -Ronald L Thibert 1, Heidi H Pfeifer, Anna M Larson, Annabel R Raby, Ashley A Reynolds, Amy K Morgan, Elizabeth A Thiele
The following links explain the clinical, genetic make-up and causes of Angelman syndrome in greater detail:
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Clinical and genetic aspects of Angelman syndrome - Charles A Williams, Daniel J Driscoll, Aditi I Dagli
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Angelman syndrome: a review of the clinical and genetic aspects -
Key Recommendations
for Management
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Diagnosis/Genetic counselling and testing. Specific gene sequencing tests are now available.
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Access to a support association
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Management plan for epilepsy – any type of seizure can occur. Recognition and management can be challenging
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Management of hyperactive behaviour and disruptive sleep patterns if needed
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Physiotherapy, occupational therapy and speech therapy
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Respite and support for family
What does Angelman syndrome look like?
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What does Angelman Syndrome look like?:
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Behaviours commonly seen in people with Angelman Syndrome: Short film by AngelmanUK
General Characteristics & Common Traits in AS
It is important for professionals to note that each person who has Angelman syndrome is an individual. Just like other children, every person with AS has their own unique appearance and personality and vary greatly in their abilities, talents, weaknesses, and achievements. Because of these differences, the treatments, therapies and management plans will also vary from case to case.
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The disorder is characterized by global developmental delays, severe speech impairment and a movement/balance disorder.
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Many have a seizure disorder, which at times can be difficult to treat.
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Most children with AS appear to need very little sleep when young.
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They are usually very sociable and display a very happy demeanour.
Serious Additional Complications of AS
Some additional conditions are fairly common in individuals with AS, but if not well managed, they can cause pain, stress and disruptions to family life, and some even become life threatening if not treated appropriately. See Community-Sourced Reporting of Mortalities in Angelman Syndrome (1979–2022)
When these 10 conditions are present and become aggravated, they must be carefully monitored and managed. They include, epilepsy, sleep disorder, gastro‐intestinal symptoms (GI), Cyclic vomiting syndrome (CVS), anxiety and aggressive behaviours, orthopedic conditions including scoliosis, vision - strabismus and Cortical visual impairment (CVI), PICA, Anaesthetics - aspiration and respiratory distress, body temperature control/regulation. Read more below.
Looking Ahead
There are many individuals around the world living with AS and who attend mainstream schools, build life-long friendships, communicate, learn literacy & numeracy through AAC methods, enjoy puzzles, Duplo, photography and blogging (with support), love dining out, and regularly go to movies, music concerts, and live theatre.
Many are sporty and enjoy activities like trampolining, running, tramping, cycling, horse riding, sailing, fishing, swimming, skiing, ice skating, and roller skating. Those more physically affected by AS may participate in running events with mobility supports, eg. ride adapted bikes or as a buggy passenger, or support their favourite sports teams from the sidelines.
As they get older, most eventually leave home and move into their own homes with their friends or compatible peers, and 24/7 support. Everyone has a role in their community and can contribute in their own way, sharing their joy and enthusiasm for life. See Inclusion and person-centred planning.
