RecruitingNCT01132885

Defining the Brain Phenotype of Children With Williams Syndrome

Defining the Brain Phenotype of Children With 7q11.23 Copy Number Variation, Including Williams Syndrome and 7q11.23 Duplication Syndrome


Sponsor

National Institute of Mental Health (NIMH)

Enrollment

415 participants

Start Date

Jan 23, 2011

Study Type

OBSERVATIONAL

Conditions

Summary

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.


Eligibility

Min Age: 5 Years

Plain Language Summary

Simplified for easier understanding

This NIH study examines the brain in children and adults with Williams Syndrome — a rare genetic condition caused by a deletion on chromosome 7 that affects development, personality, and cognition. Using MRI scans and other tests, researchers aim to map the brain differences associated with this syndrome and nearby chromosomal conditions to better understand how genes shape brain development. You may be eligible if: - You are 5 years of age or older - You have Williams Syndrome or another genetic condition in the 7q11.23 region of chromosome 7 - Parents can give consent for minors; adults may need a guardian if they lack capacity - Typically developing children and adults may participate as comparison controls You may NOT be eligible if: - You have a medical condition severe enough to prevent MRI participation or interfere with test performance - You take medication that would affect brain imaging results - You have a metal implant that is unsafe for MRI (pacemaker, braces, etc.) - You are pregnant - You are an NIMH employee or immediate family member of one Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

Interested in this trial?

Get notified about updates and connect with the research team.


Locations(1)

National Institutes of Health Clinical Center

Bethesda, Maryland, United States

View Full Details on ClinicalTrials.gov

For the most up-to-date information, visit the official listing.

Visit

NCT01132885


Related Trials