Angelman Syndrome

Angelman Syndrome

Angelman syndrome is a complex genetic disorder that primarily affects the nervous system.

Characteristic features:

• Delayed development: becomes noticeable by the age of 6 to 12 months
• Intellectual disability
• Severe speech impairment
• Ataxia (Problems with movement and balance)
• Recurrent seizures (epilepsy)
• Microcephaly (a small head size)

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Children with this syndrome typically have a happy, excitable 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. These conditions tend to improve as they grow.

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Causes:

• Many of the characteristic features of syndrome result from the loss of function of a gene called UBE3A on chromosome 15
• In a small percentage of cases, Angelman syndrome results when a person inherits two copies of chromosome 15 from his or her father (paternal copies) instead of one copy from each parent.
• Rarely, This syndrome can also be caused by translocation, or by a mutation or other defect in the region of DNA that controls activation of the UBE3A
• In some cases of Angelman syndrome, the loss of a gene called OC2 on chromosome 15 is associated with light-colored hair and fair skin.

People with Angelman  need lifelong assistance in day-to-day living. Angelman People with Angelman Syndrome may benefit from Speech-Language Therapy, Occupational Therapy, and/ or Physiotherapy alongside other medical assistance.

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