Angelman Syndrome

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

AngelmanSyndrome

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)

Click here to know few facts about seizures.

Children with Angelman 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.

Searching to read about other syndromes? Please click here.

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, Angelman 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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HAPPY LEARNING!

Kaveri_Halambi
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