Angelman syndrome (AS) is a rare genetic disorder that affects approximately 1 in 15,000 live births*.
Symptoms include global developmental delay, impaired movement and balance, lack of speech, seizures, feeding and sleep difficulties. Early diagnosis is critical; however, AS is often misdiagnosed as cerebral palsy or autism.
People living with AS require life-long care and close medical supervision. Intensive educational and therapeutic programs significantly assist skill development and inclusion.
Despite the challenges, individuals with AS are renowned for their happy disposition and huge smiles. Their infectious laughter and emotions are expressed with every inch of their body, with hugs so sincere that they are rarely forgotten!
However, their happy, loving nature is often overshadowed by the overwhelming difficulties they, and their carers, face daily.
What causes it?
Angelman syndrome is caused by the lack of just one functional gene –UBE3A on chromosome 15. This gene is responsible for creating a protein (of the same name) that is expressed in the brain. There are five known mechanisms – a Chromosome Deletion, Mutation, Imprinting Centre Defect, Uniparental Disomy, Mosaic.
How is it diagnosed?
New, more widely available DNA microarray testing has made it easier to test for Angelman syndrome. If you suspect your loved one has AS, your doctor or paediatrician can arrange for the test. The array will detect a deletion on Chromosome 15, the most common cause for AS however approximately 30% of cases will require further testing to confirm or rule out Angelman syndrome.
There is no cure for AS, but the child can benefit from a range of treatments for some symptoms including:
- speech therapy
- behaviour modification
- communication therapy
- occupational therapy
- physical therapy
- special education
- social skills training
- anti-epileptic medication.
AS is not a degenerative disease. Children with AS can expect a normal lifespan.
Is there a cure?
Researchers are working hard to deliver therapeutics to improve and ultimately alleviate all symptoms of AS and there is a shared belief in the research community that this is possible. Research into AS has advanced rapidly in the last ten years and there are a number of gene therapy approaches and treatment options in development.