Angelman Syndrome @UNC

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.

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. Due to a limited number of appointments, only clients with a molecularly confirmed diagnosis of Angelman syndrome can be scheduled the Angelman Syndrome Clinic team; if your family member has received all normal genetic testing for Angelman syndrome, the team recommends further evaluation by a pediatric geneticist to consider other genetic conditions that share overlapping features with Angelman syndrome. Please let us know you would like to schedule an appointment in the Angelman Syndrome Clinic at CIDD by:

1. Complete this secure online questionnaire: Click here to complete the online form
OR
2. Download the questionnaire at the following link (http://www.cidd.unc.edu/docs/Angelman/AngelmanSyndromeClinicQuestionnaire.pdf) and follow the instructions below.
• 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.)
• 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 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:


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/