Angelman Syndrome

Angelman Syndrome

This is a genetic condition which manifest as developmental delay and disturbed speech, balance and intellectual abilities. The first ever sign of Angelman syndrome is the developmental delay which usually occur between 6 to 12 months of age.


Signs and symptoms of this disorder includes;

  • Delay in the development, baby not achieving developmental milestone even at 6 to 12 months of age.
  • Intellectual disability.
  • Distorted speech.
  • Difficulty in sleeping or asleep for long time.
  • Frequently smiling or laughing.
  • Small head size, and flat back.
  • Thrusting of tongue.
  • Unusual behaviors.

Variety of causes are there for this condition like mutation in some genes causing a gene defect or missing a crucial gene. UBE3A gene comes from maternal side as a single copy. Missing UBE3A gene can lead to the development of Angelman syndrome.


Associated complication of this condition are;

  • Difficulty in feeding.
  • Quick sudden movement/ hyperactivity.
  • Disturbance in sleeping pattern.
  • Scoliosis; which is the abnormal curvature of spine.
  • Obesity in children.
  • Complete history and general physical examination.
  • DNA methylation test, checking paternal DNA patterns.
  • chromosomal microarray (CMA), detecting any missing chromosome.
  • UBE3A gene sequencing test, to detect maternal gene mutation

Treatment strategies include;

  • Medication for seizures.
  • Behavioral therapy.
  • Physical therapy.
  • Communication therapy.
Scroll to Top
Scroll to Top