What is Angelman Syndrome?

Angelman Syndrome (AS) is a neurological-genetic disorder characterised by global development delays & severe speech impairment.  A few individuals with AS develop functional speech, but most communicate through a mixture of gestures, eye contact, adaptive sign language & augmentative communication. 

Individuals with AS have developmental delays & intellectual impairment. 

AS also causes movement and balance disorders.  Whilst some AS children achieve independent walking by the age of three, there are others who will never achieve this goal.  The movement disorder can be mild (only affecting walking and some fine motor skills) or severe (preventing self help skills like feeding, walking & dressing).

Most individuals with AS have a seizure disorder, which can be difficult to treat.

Other challenges can also include feeding disorders in infancy, failure to thrive & sleeping difficulties.

What Causes it?

Angelman Syndrome (AS) is caused by a severe reduction of expression of the gene UBE3A in the brain.  The UBE3A gene is located on chromosome 15. Both copies of the UBE3A gene are active in most of the body's tissues. In the brain, however, only the copy inherited from a person's mother (the maternal copy) is normally active.

In Mollys case, as with the majority of cases of AS, there is a deletion in her maternal copy of Chromosome 15. Other ways in which this can occur are;

  • mutation of the UBE3A gene that prevents its expression (7% of cases);
  • uniparental disomy where there are two copies of paternal chromosome 15 (7% of cases)
  • clinical - in these individuals all testing is normal, but they still meet the diagnostic criteria (11%), it's likely that there may be a mutation in the pathway 'downstream' from UBE3A, or in the mechanisms that underlie maternal expression (Note there are several other syndromes that present like AS that can be tested for)

Although the prevalence of AS is not precisely known there are some estimates which suggest somewhere between 1 in 10-20,000 births.

The severity of Angelman Syndrome is a spectrum. Incidences can present with huge variations in the diagnostic criteria; from a few, to all of the listed features.

Is there a cure?

Current Award winning research suggests a cure for Angelman Syndrome (AS) is a real possibility.  Since the cause of AS has already been identified, the basic knowledge to start the search for a viable treatment is already known.  

Current knowledge & recent cutting edge research present significant hope for finding a cure that was only imagined a few years ago.  

For the latest news on current research be sure to join the Foundation for Angelman Syndrome Therapeutics (at no cost) by visiting the website.

Therapies such as Physical, Occupational & Speech Language Pathology assist individuals in reaching their full potential. See Mollys Marathon for details of what we are doing right now - or email us!

 

"The pessimist complains about the wind; the optimist expects it to change; the realist adjusts the sails" - Jim Rohn

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