The Carolina Institute for Developmental Disabilities at UNC
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Our Clinic: Services

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 therapist, occupational therapist, genetic counselor, and social worker. 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/or 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.

How to Make an Appointment

Thank you for your interest in the Comprehensive Angelman Syndrome Clinic at the Carolina Institute for Developmental Disabilities (CIDD) at UNC-Chapel Hill. Please let us know you would like to schedule an appointment in the Angelman Syndrome Clinic at CIDD by:
  1. Completing this questionnaire. (Click Here to Download Questionnaire)
  2. Prioritizing your needs on the questionnaire. (We have provided a place for you to rank your needs on page 1 of the attached packet. We work to provide a comprehensive team for all families at the clinic, but given the schedules of the providers, this is not always possible. We will work to accommodate the top 3 needs for each family.)
  3. Providing a copy of your child’s genetic testing result, confirming the diagnosis of Angelman syndrome.
Once you have completed the above, please send the paperwork back to the Angelman Syndrome Clinic by US mail or fax. After the paperwork has been received, you will be contacted for more information and to schedule an appointment.

Fax: 919-966-2230 (Attention: Margaret DeRamus, CIDD Angelman Syndrome Clinic)
Mailing address: CIDD Angelman syndrome Clinic
  Attn: Margaret DeRamus
University of North Carolina at Chapel Hill
Campus Box #7255
Chapel Hill, NC 27599-7255

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

Other Angelman Syndrome Resources

National Library of Medicine Genetics Home Reference

NCBI Genes and Disease

American Epilepsy Society (AES)
342 North Main Street
West Hartford CT 06117-2507
Phone: 860-586-7505
Fax: 860-586-7550

Epilepsy Foundation
8301 Professional Place
Landover MD 20785-7223
Phone: 800-332-1000 (toll-free)
Fax: 301-577-2684

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
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

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