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Angelman Syndrome 

What is Angelman
syndrome (AS)? 

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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.

 

  • AS is a rare condition that occurs in approximately 1:15,000                                                                  

  • It affects the 15th chromosome resulting in a severe reduction of expression of the gene UBE3A in the brain. UBE3A (Ubiquitin Protein Ligase E3A) is a Protein Coding gene.

  • 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 care.

  • 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. 

 

  • Angelman syndrome is a neuro-genetic disorder that affects the nervous system causing physical and intellectual impairments. 

  • AS is caused by a severe reduction of expression of a single gene UBE3a in the brain.

 

  • UBE3A is a ubiquitin ligase whose function and targets relevant to AS are still unknown. AS occurs through 4 different genetic mechanisms, all involving chromosome 15.

 

  • In about 80% of cases clinical diagnosis can be confirmed by laboratory testing. Most cases are sporadic but some genetic mechanisms have implications for other family members. 

Key Recommendations
for Management

  • Diagnosis/Genetic counselling and testing. Specific gene sequencing tests are now available.

  • Access to a support association

  • Management plan for epilepsy – any type of seizure can occur. Recognition and management can be challenging

  • Management of hyperactive behaviour and disruptive sleep patterns if needed

  • Physiotherapy, occupational therapy and speech therapy

  • Respite and support for family

What does Angelman syndrome look like?​

  • What does Angelman Syndrome look like?:

      Short film by FAST (AU)

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Characteristics and Common Traits in AS

The disorder is characterized by global developmental delays, severe speech impairment and a movement/balance disorder. Many have a seizure disorder, which at times can be difficult to treat. Most children with AS seem to need very little sleep when young, and are usually very sociable and display a very happy demeanour.

Related Conditions and Complications of AS

When the following conditions are present, they need to be carefully monitored and managed. Some of these conditions can cause pain, stress and disruptions to family life and can even become life threatening if not treated appropriately. 

Despite the complex characteristics of this syndrome, there are many people who have Angelman syndrome who also enjoy a full life provided they have the right supports in place. There are many people with AS, who:

...attend mainstream schools, are communicating and learning literacy & numeracy using AAC methods, enjoy taking their own photos and writing blogs (using technology), love eating out at restaurants, and regularly go out to the movies and attend live theatre productions.

 

There are many sporty individuals with AS who love to be active. They may enjoy jumping on trampolines, riding bicycles, horse riding, swimming, snorkeling, snow skiing, ice skating, and even roller skating! And while some are able to participate actively in sports, those who are more physically affected by AS can get involved in other ways. Many  participate in running events while being pushed in a buggy, or ride an adapted wheelchair bike, or support their team from the bench. Just like everyone else, people with AS have a wide range of abilities, talents and different areas of interest. They should all be respected as individuals and supported appropriately so that they can experience life to the fullest. 

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Characteristics of
Angelman syndrome