Today is International Angelman Syndrome Day. It is a day to bring awareness to this disorder.
Angelman Syndrome is a genetic disorder that affects the nervous system, characteristics that include developmental delays, intellectual disability, and speech impairments. Angelman syndrome generally go unnoticed until the age of 1 year. Children typically have a happy demeanor and have a fascination with water
Written by: Patricia Inacio. Ph.d
Published by: Angelman Syndrome News
Epileptic seizures contribute more than previously thought to autism symptoms in patients with Angelman syndrome, according to researchers.
The study, “Effect of epilepsy on autism symptoms in Angelman syndrome,” was published in the journal Molecular Autism. Autism and epilepsy often co-occur in patients with Angelman syndrome, but the extent to which the association between autism symptoms and epilepsy is due to shared aetiology or to the direct effects of seizures was unclear. Click here to the rest of the story.
Angelman Syndrome is a genetic disorder that affects the nervous system.
- developmental delay
- intellectual disability
- short attention span
- happy demeanor
- tongue thrusting
- feeding problems during infancy
- sensitivity to heat
- frequent drooling
- attraction to water
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.
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.
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 may include the following:
- blood test
- parental DNA pattern
- missing chromosome testing
- gene mutation
Treatment for Angel Syndrome may include:
- anti-seizure medication
- physical therapy
- communication therapy
- behavior therapy
Boston Children’s Hospital
Genetics Home Reference
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.