Angelman Syndrome

ANGLEMAN SYNDROME

Angelman Syndrome is a genetic disorder that affects the nervous system.
Symptoms
  • developmental delay
  • intellectual disability
  • epilepsy
  • microcephaly
  • short attention span
  • happy demeanor
  • hyperactivity
  • hand-flapping
Associated Behaviors
  • tongue thrusting
  • feeding problems during infancy
  • sensitivity to heat
  • frequent drooling
  • attraction to water
Prevalence

Angelman Syndrome  is  a rare disorder and affects 1 in 12,000 to 20,000 a year. Equally to less than 200,000 case a year. Affects all ethnicities and sexes equally.

History

English pediatrician, Dr. Harry Angleman first described Angelman syndrome when he observed 3 children who had similar features including unusual happiness, developmental delays and similar facial disorders. He originally called it the “Happy Puppet Syndrome” based in a 17th century Italian painting by Gian Francesco Coroto.

Causes

In most cases, a gene located on chromosome 15 is generally missing or damaged, in some cases, the individual may have 2 copies of the paternal chromosome 15.

Diagnosis

Diagnosis may include the following:

  • blood test
  • parental DNA pattern
  • missing chromosome testing
  • gene mutation
Treatment

Treatment for Angel Syndrome may include:

  • anti-seizure medication
  • physical therapy
  • communication therapy
  • behavior therapy
Medical Sites

Boston Children’s Hospital

Genetics Home Reference

Mayo Clinic

Medicine Net

Wikipedia

Organizations

Angelman Syndrome Foundation– The mission is to advance the awareness and treatment of Angelman Syndrome through education, information and research.

Foundation for Angelman Syndrome Therapeutics– FAST is an all volunteer organization of families and professionals dedicated to finding a cure for Angelman Syndrome and related disorders.

 

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