What is Angelman syndrome?
Angelman syndrome is genetic condition that, in most cases, is caused by a faulty or absent gene – UBE3A – and occurs at the point of conception. People with Angleman syndrome have a near-average life expectancy, but the associated learning disabilities make it likely that people with the condition will require care for the duration of their lives.
Angelman syndrome is not usually identified until between the ages of six months and six years when symptoms begin to present. Diagnosis is confirmed by genetic testing of a blood sample, and is important as it will identify exactly which genetic change caused the condition, and whether relatives should also consider getting tested.
While there is currently no cure for Angelman syndrome, some genetic research has shown promising results that may lead to an ability to restore the UBE3A gene. In the meantime however, with appropriate care, people with Angelman syndrome can be supported to achieve the best possible outcomes, in the most effective way possible.
Signs of Angelman syndrome
Symptoms can vary, and can affect people to differing degrees. However, all people with Angelman syndrome will have: –
- A severe developmental delay
- Speech impairment, with non-verbal communications skills higher than verbal
- Issues with movement or balance
- ‘Behavioural uniqueness’, such as frequent laughter, hand-flapping, excitability, restlessness and a reduced attention span.
Most people with Angelman syndrome will also have microcephaly (delayed/disproportionate head circumference growth), and will experience seizures and sleep problems. They often also demonstrate a particular interest in water.
Support for people with Angelman syndrome
Physical therapy can help people with Angelman syndrome develop their walking ability, which anti-seizure medication can help reduce incidence of seizures.
- Hft supports adults with learning disabilities including those with Angelman syndrome to live the best life possible. Contact your local service to discuss support options.
- If you’re a family carer for someone with Angelman syndrome, Hft’s Family Carer Support Service can help with guidance and advice on support options.
- Assert provides more information and guidance for people with Angelman syndrome, and their families.
- NHS Choices provides a range of information and links to further useful resources.