Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. The physician Harry Angelman first delineated the syndrome in 1965, when he described several children in his practice as having "flat heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Seizures often begin between 2 and 3 years of age. Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause severe functional deficits. 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 with Angelman syndrome to reach their maximum developmental potential. Most individuals with Angelman syndrome will have severe developmental delays, speech limitations, and motor difficulties. However, individuals with Angelman syndrome can have normal life spans and generally do not show developmental regression as they age. Early diagnosis and tailored interventions and therapies help improve quality of life. The NINDS supports and conducts research on neurogenetic disorders such as Angelman syndrome, to develop techniques to diagnose, treat, prevent, and ultimately cure them. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&term=angelman+syndrome[majr]+AND+human[mh]+AND+english[la]&db=PubMed&orig_db=PubMed&filters=on&pmfilter_EDatLimit=5+Years 1 http://clinicaltrials.gov/ct2/results?term= /disorders/angelman/pubs_angelman.htm /disorders/angelman/xml_angelman.xml xml_angelman.xml V12 Angelman Syndrome Foundation

4255 Westbrook Drive

Suite 219 Aurora IL 60504 info@angelman.org http://www.angelman.org 630-978-4245 800-432-6435 630-978-7408 Works to advance awareness and treatment of Angelman Syndrome through education and information, research, and support. V100 The Arc of the United States

1010 Wayne Avenue

Suite 650 Silver Spring MD 20910 Info@thearc.org http://www.thearc.org 301-565-3842 800-433-5255 301-565-3843 or -5342 Works to protect and expand the opportunities available to persons with mental retardation and related developmental disabilities. V195 Prader-Willi Syndrome Association

8588 Potter Park Drive

Suite 500 Sarasota FL 34238 national@pwsausa.org http://www.pwsausa.org 941-312-0400 800-926-4797 941-312-0142 Serves as an international vehicle of communication about Prader-Willi syndrome (PWS), a genetically based developmental disability. Provides to parents and professionals a national and international network of information, support services, and research endeavors to meet the needs of affected children and adults and their families.