Angelman syndrome (AS) is a neurological disorder characterized by severe developmental delay, distinctive facial appearance and behavior, epilepsy and lack of speech.

What are the characteristics of Angelman Syndrome?

Individuals with AS are usually happy, affectionate, sociable and sometimes laugh with little provocation or at inappropriate times.

Other common behaviors of AS include:

• hand-flapping
• jerky body movement
• a stiff-legged gait
• little or no speech
• attention deficits
• hyperactivity
• feeding and sleeping problems (especially in infancy)
• delays in motor development

Many children with Angelman Syndrome have epilepsy and share common facial features, including deep set eyes, a wide mouth, a prominent chin and a thin upper lip. More than half have low levels of pigmentation in their skin, eyes and hair.

What causes Angelman Syndrome?

Angelman Syndrome is caused by an abnormal expression of a group of genes on chromosome 15, most commonly by deletion of a segment of that chromosome. A common hypothesis is that one of these genes controls an area of brain development associated with learning and movement; another is related to the neurotransmitter GABA; and another gene in the deleted area contributes to pigmentation. There are no known risk factors for the Angelman deletion.

How common is Angelman Syndrome?

It is estimated that 1 in 10,000 individuals has Angelman Syndrome.

Diagnosis is often based on:

• A history of delayed motor skills and general development
• Absent speech
• A history of epilepsy and a particular pattern in an abnormal EEG
• A happy disposition with frequent, sometimes inappropriate, laughter
• Unusual movements like hand flapping, stiff-legged gait and jerky limb movement
• A deletion or abnormality on chromosome 15
• A characteristic facial appearance

What is the treatment for Angelman Syndrome?

Although there is no cure for Angelman Syndrome, there are a variety of treatments that can help the condition. For seizures, anticonvulsant medicines are prescribed. Physiotherapy is used to encourage joint mobility. Speech therapy, occupational therapy, behavior modification and water and music therapy are also used to help manage the condition.

What is the prognosis for individuals with AS?

Individuals with AS usually have near normal life spans and good health. While AS children usually deal with issues such as hyperactivity, attention deficits in school and poor eating and sleeping patterns, many of these issues lessen with age. Usually adults with AS are not capable of living independently but many learn to perform basic household tasks and live successfully in adult group homes. Some can take jobs with direct supervision.

Those with AS will have severe developmental delays but with early diagnosis and quality intervention and therapy it is possible to improve their quality of life. There are several clinical studies underway to study the effects of vitamin supplements on the symptoms of Angelman Syndrome.

Is there a parent support network?

Yes, there is the Angelman Syndrome Foundation.