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Overview of Clinical Services


Angelman Syndrome is a genetic disorder characterized by developmental delay, speech impairment, severe intellectual disability, microcephaly, seizures, movement disorder and a happy demeanor with frequent laughter. Other symptoms may include feeding and swallowing problems, sleep disturbance, hyperactivity, frequent drooling, mouthing behaviors, strabismus, hypopigmentation, scoliosis and constipation. Angelman syndrome is caused by a disruption of the expression or function of the UBE3A gene located on the maternal chromosome 15 (q11q13). Most individuals with Angelman syndrome (68%) have a deletion at 15q11q13. Approximately 7% have uniparental disomy (UPD), 3% have an imprinting center defect and 11% have mutations in the UBE3A gene. A small minority of individuals with a presumptive clinical diagnosis of Angelman syndrome have no identifiable genetic cause.

The UNC Comprehensive Angelman Syndrome Clinic brings together multiple subspecialists into one setting to address the complex medical and psycho-educational needs of individuals with Angelman syndrome. Depending on the specific concerns, patients and their families have access to a clinical geneticist, neurologist, psychiatrist, psychologist, speech language pathologist, physical/occupational therapist, genetic counselor, social worker and nutritionist. All team members have expertise in service provision for individuals with developmental disabilities, including those with significant cognitive, language and physical limitations.

During the clinic visit, the patient and their family members and care providers will meet with each subspecialist to discuss relevant concerns. Following the consultations, the team will provide the family with a summary of their impressions and management recommendations. With family consent, the team will communicate directly with primary care physicians and other allied health professional in the patient’s medical home to provide direct consultation. Additional referrals to other subspecialists within the UNC Hospital system are also possible. Follow-up visits in the clinic will be determined based on each individual’s needs.

Contact Information:


To make an appointment with the UNC Comprehensive Angelman Syndrome Clinic, please complete the CIDD contact form.

Clinic Location and Directions:


The Angelman Syndrome Clinic is located in the main building for the Carolina Institute for Developmental Disabilities:

Angelman Syndrome Clinic
101 Renee Lynne Court
Carrboro, NC 27510

Phone: (919) 966-5171
Fax: (919) 966-2230

Clinic Partially Funded by the Angelman Syndrome Foundation
Angelman Syndrome Foundation
4255 Westbrook Drive, Suite 219
Aurora, IL 60504
Phone: (630) 978-4245
Fax: (630) 978-7408
http://www.angelman.org/

Other Angelman Syndrome Resources


National Library of Medicine Genetics Home Reference
http://ghr.nlm.nih.gov/condition/angelman-syndrome

NCBI Genes and Disease
http://www.ncbi.nlm.nih.gov/books/NBK22221/

American Epilepsy Society (AES)
342 North Main Street
West Hartford CT 06117-2507
Phone: 860-586-7505
Fax: 860-586-7550
Email: info@aesnet.org
http://www.aesnet.org

Epilepsy Foundation
8301 Professional Place
Landover MD 20785-7223
Phone: 800-332-1000 (toll-free)
Fax: 301-577-2684
Email: info@efa.org


Angelman, Rett and Prader-Willi Syndromes Consortium Registry
University of Alabama at Birmingham
1530 3rd Avenue South
CIRC 320
Birmingham AL 35294-0021
Phone: 800-822-2472 ext 7 (toll-free)
Fax: 205-975-6330
Email: jlane@uab.edu
http://rarediseasesnetwork.epi.usf.edu/arpwsc/takeaction/registrymenu.htm

ClinicalTrials.gov
http://clinicaltrials.gov/ct2/home
Search for "angelman syndrome" to view a list of current/pending federally or privately funded clinical trials involving patients with Angelman syndrome.

Family Support Network of North Carolina
http://fsnnc.org/



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