Description

Angelman syndrome is a genetic condition. It causes lack of speech, seizures, and severe learning problems. Natural history is paying attention to the lives, changes and health of people over a long period of time. We plan to follow this group of people with Angelman syndrome over 5 years.

For your first visit, we will ask the parent to:

• answer questions about your family, your family member's nutrition, and medical history
• give a DNA sample (blood and/or cells from your cheek)

For your first visit, we will ask the person with Angelman syndrome to:

• complete medical, cognitive, developmental, and diagnostic assessments
• complete EEG and /or MRI imaging
• give a DNA sample (blood and/or cells from your cheek)

We will work with families on the timing and scheduling of these tasks, to make sure you are comfortable with the expectations in any one session.

Learn more about our other Angelman syndrome programs here.

Participant Criteria

• Persons with Angelman syndrome
• from birth to 60 years old
• diagnosed with or without genetic proof

Compensation

Yearly evaluations, with reports, at no cost

Visit Requirements

6 visits, 1 now and 1 each year for 5 years

Contact Information

Terry Jo Bichell, RN, CNM, MPH,
(615) 322-8093
Terry.Jo.Bichell@vanderbilt.edu