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Key Characteristics of Angelman Syndrome:

Published in Genetic Disorder 2 mins read

What is Angelman Syndrome?

Angelman syndrome (AS) is a rare neuro-genetic disorder affecting the nervous system. It's characterized by developmental delays, intellectual disability, speech impairment, and movement and balance issues (ataxia). Occurring in approximately one out of 15,000 live births, or about 500,000 people worldwide, AS is caused by a change in the UBE3A gene on chromosome 15. This genetic change prevents the gene from functioning correctly, leading to the characteristic symptoms. While not typically hereditary, the condition can be caused by different genetic mechanisms.

  • Developmental Delays: Children with AS show significant delays in reaching developmental milestones.
  • Intellectual Disability: Intellectual functioning is significantly impaired.
  • Severe Speech Impairment: Many individuals with AS have limited or no verbal communication abilities.
  • Movement and Balance Problems (Ataxia): Difficulty with coordination, balance, and gait are common.
  • Other potential symptoms: Seizures, sleep disturbances, a happy demeanor, and unusual hand movements can also be present.

Causes of Angelman Syndrome:

Angelman syndrome isn't usually inherited from parents. Instead, it typically results from one of several genetic mechanisms impacting the UBE3A gene:

  • Deletion of a section of chromosome 15: This is the most common cause.
  • Uniparental disomy: Inheritance of two copies of chromosome 15 from one parent instead of one from each parent.
  • Imprinting defects: Problems with the gene's epigenetic "imprint" which controls its expression.
  • Mutations in the UBE3A gene: Direct changes within the gene itself.

Resources and Support:

Several organizations offer support and resources for individuals with AS and their families:

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