Angelman syndrome

Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. Infants appear typical at birth but often have feeding problems and exhibit developmental delays by 6 to 12 months. Seizures often begin between 2 and 3 years of age. Speech impairment is pronounced. Individuals often display hyperactivity, small head size, sleep disorders, and movement and balance disorders. Angelman syndrome results from absence of a functional copy of the UBE3A gene inherited from the mother. There is no specific therapy for Angelman syndrome. Medical therapy for seizures is usually necessary. Physical and occupational therapies, communication therapy, and behavioral therapies are important in allowing individuals to reach their maximum developmental potential.

News items related to the topic: Angelman syndrome

Circadian clock—Angelman syndrome link established
Monitoring participants’ biological clocks may be the quickest way to determine the effectiveness of experimental drugs currently under development to treat Angelman syndrome (AS), a debilitating genetic disorder that occurs in more than 1 in every 15,000 live births.

Autism and Angelman syndrome targeted in 2016 Discovery Grants
The Michael C. Walther II Discovery Grant and two Nicholas Hobbs Discovery Grants have been awarded for 2016-17, announced Elisabeth Dykens, Ph.D., Vanderbilt Kennedy Center (VKC) director and Annette Schaffer Eskind Chair.

People related to the topic: Angelman syndrome

Roger Colbran, Ph.D.
Professor of Molecular Physiology and Biophysics

Elisabeth Dykens, Ph.D.
Professor of Psychology, Psychiatry & Behavioral Sciences, and Pediatrics; Co-Director, Vanderbilt Kennedy Center for Excellence in Developmental Disabilities

Kevin Haas, Ph.D., M.D.
Assistant Professor of Neurology

Sarika Peters, Ph.D.
Assistant Professor of Pediatrics and Psychiatry & Behavioral Sciences

Back to the topic index