Angelman Syndrome

Angelman Syndrome

Angelman Syndrome (pronounced: an-gel-man sin-drome) 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 a 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.

Etymology

The syndrome is named after the British pediatrician, Dr. Harry Angelman, who first described it in 1965. He initially referred to the condition as 'happy puppet syndrome' due to the characteristic happy demeanor and puppet-like movements of the patients. However, this term is now considered pejorative and is no longer in use.

Causes

Angelman Syndrome is caused by the loss of function of a gene on chromosome 15 known as UBE3A. Everyone has two copies of this gene, one from each parent. Usually, both copies of this gene are active in many of the body's tissues. In certain areas of the brain, however, only the copy inherited from the mother (the maternal copy) is active. This parent-specific gene activation is caused by a phenomenon known as genomic imprinting. If the maternal copy of the UBE3A gene is lost or mutated, the brain is left with no working copies of the gene, leading to the characteristic features of Angelman Syndrome.

Symptoms

Symptoms of Angelman Syndrome include developmental delay, lack of speech, seizures, and walking and balance disorders. Affected individuals usually have a happy demeanor, characterized by frequent laughing, smiling, and excitability. Other common features include a small head size (microcephaly), abnormal EEG, sleep disorders, and movement and balance disorders, often in association with unusually flexible joints.

Treatment

There is currently no cure for Angelman Syndrome. Treatment focuses on managing the medical and developmental issues. A multidisciplinary approach that may involve neurologists, physical therapists, occupational therapists, speech therapists, and other professionals is often necessary.

See Also

• Genetic disorder
• Chromosome 15
• Genomic imprinting
• Neurology
• Physical therapy
• Occupational therapy
• Speech therapy

External links

• Medical encyclopedia article on Angelman Syndrome
• Wikipedia's article - Angelman Syndrome

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