Angelman syndrome

Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood.

 

Children with Angelman syndrome typically have a happy, excitable demeanour with frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping and need less sleep than usual.

With age, people with Angelman syndrome become less excitable, and sleeping problems tend to improve. However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives. Adults with Angelman syndrome have distinctive facial features that may be described as “coarse.” Other common features include unusually fair skin with light-coloured hair and abnormal side-to-side curvature of the spine (scoliosis). The life expectancy of people with this condition appears to be nearly normal.

Treatment

There’s no cure for Angelman syndrome. Research is focusing on targeting specific genes for treatment. Current treatment focuses on managing the medical and developmental issues.

A team of health care professionals will likely work with you to manage your child’s condition. Depending on your child’s signs and symptoms, treatment for Angelman syndrome may involve:

Anti-seizure medication to control seizures

Physical therapy to help with walking and movement problems

Communication therapy, which may include sign language and picture communication

Behaviour therapy to help overcome hyperactivity and a short attention span and to aid in the development

Occupational therapy to help teach living skills

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