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.
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Services and Programs
- Family Outreach Center
Disability-specific programs associated with the Vanderbilt Kennedy Center and other organizations at Vanderbilt provide a broad range of treatment, research, technical assistance, education, and outreach services. - Research Family Partners
Research Family Partners is a program that helps families connect with Vanderbilt Kennedy Center research studies in which they may be interested in taking part. - Tennessee Kindred Stories of Disability
Families, friends and service providers share their stories about people living with disability in Tennessee.
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Printable Resources and Materials
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Links and Resources
- Angelman Syndrome Foundation (ASF)
ASF's Mission is to advance the awareness and treatment of Angelman Syndrome through education and information, research, and support for individuals with Angelman Syndrome, their families and other concerned parties. - Best Buddies (Vanderbilt Chapter)
Vanderbilt University's Best Buddies chapter. - Foundation for Angelman Syndrome Therapeutics (FAST)
Organization of families and professionals dedicated to finding a cure for Angelman Syndrome and related disorders through the funding of an aggressive research agenda, education, and advocacy. The Foundation is committed to assisting individuals living with Angelman Syndrome to realize their full potential and quality of life. - Management of Angelman Syndrome
A clinical guideline by the Angelman Syndrome Guideline Group, hosted by Dyscerne.
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StudyFinder - Participate in a study related to Angelman syndrome
Vanderbilt Kennedy Center researchers need subjects to complete the studies listed below.
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- Angelman Syndrome and Rett Syndrome as Models of Autism Spectrum Disorders
Sarika Peters, Ph.D., Assistant Professor of Pediatrics, Vanderbilt Kennedy Center Member, presents at the monthly developmental disabilities grand rounds series for clinicians, researchers, trainees, and students on November 17, 2010. - Video: Phenotypic Characterization in Angelman Syndrome Using Advanced Imaging Techniques
Seminar highlights the results of recent work in Angelman Syndrome using advanced neuroimaging techniques to examine how brainbased
changes relate to the clinical/ cognitive/behavioral profiles (e.g., language, cognition, social relatedness, repetitive behaviors) in individuals with AS. The implications for clinical management are presented.
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In the News
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