Defining the Brain Phenotype of Children With Williams Syndrome

Recruiting now

Conditions studied: Williams Syndrome, Duplication

In brief

Background: \- Little is known about how the brain changes during childhood and adolescence, how genes affect this process, or how the brains of people with 7q11.23 genetic variation change during this period. Researchers are interested in using magnetic resonance imaging to study how the brain changes in healthy children and children with 7q11.23 genetic variation, including Williams syndrome and 7q11.23 duplication syndrome. Objectives: \- To study developmental changes in the brains of healthy children and children who have been diagnosed with Williams syndrome,7q11.23 duplication syndrome, or other 7q11.23 genetic variation. Eligibility: * Healthy children and adolescents between 5 and 17 years of age. * Children and adolescents between 5 and 17 years of age who have been diagnosed with Williams syndrome, 7q11.23 duplication syndrome, or have other 7q11.23 genetic variation. Design: * Participants will have a brief physical examination and tests of memory, attention, concentration, and thinking. Parents will be asked about their child s personality, behavior characteristics, and social interaction and communication skills. * Both participants and their parents may be asked to complete additional questionnaires or take various tests as required for the study. * Participants will have approximately 10 hours of magnetic resonance imaging (MRI) scanning, usually over 4 to 5 days, within a one month period. Some of these tests will require the participants to do specific tasks while inside the MRI scanner. * Participants will be asked to return to the National Institutes of Health clinical center to repeat these procedures every 2 years thereafter until age 18.

Key facts

Study ID

NCT01132885

Run by

National Institute of Mental Health (NIMH)

People needed

415

Starts

2011-01-23

Last updated by the study team

2026-08-04

Who can join

Age: 5 and older. Sex: any. Healthy volunteers: accepted.

You may not qualify if…

• For all participants who will participate in MRI scanning, the following exclusion criteria will apply:
• Any chronic or acute medical condition severe enough to interfere with task performance or interpretation of MRI data.
• Any medication that might interfere with task performance or interpretation of MRI data.
• Any medical condition that increases risk for MRI (e.g. pacemaker, metallic foreign body in eye or other body part, dental braces).
• Pregnancy (a urine pregnancy test will be performed prior to all MRI procedures for all females of child-bearing potential.
• NIMH employees and staff and their immediate family members will be excluded from the study per NIMH policy.
• For parents who will undergo blood draws only, they will not be able to participate if they have a condition
• that would make collecting blood unsafe.

Where it is running

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (enrolling)

Full record on ClinicalTrials.gov

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