Defining the Brain Phenotype of Children With Williams Syndrome

Launched by NATIONAL INSTITUTE OF MENTAL HEALTH (NIMH) · May 27, 2010

Keywords

ClinConnect Summary

This clinical trial is studying how the brains of children with Williams syndrome and similar genetic variations change as they grow up. Researchers want to learn more about the brain development of both healthy children and those diagnosed with Williams syndrome or 7q11.23 duplication syndrome. They are particularly interested in how genetic factors might influence these changes during childhood and adolescence using a type of imaging called magnetic resonance imaging (MRI).

To participate, children and teenagers between the ages of 5 and 17 may be eligible if they are either healthy or have been diagnosed with the mentioned genetic conditions. Participants will undergo a brief check-up and some tests to assess their memory and thinking skills. They will also have around 10 hours of MRI scanning spread over 4 to 5 days, during which they may be asked to complete specific tasks. The study aims to follow participants every two years until they reach 18 years old. This research is important as it could help us understand how these genetic conditions affect brain development over time.

Gender

ALL

Eligibility criteria

• * INCLUSION CRITERIA:
• For all participants, the following inclusion criteria will apply:
• • 1. Greater than 5 years old.
• • 2. Able to provide assent if below the age of 18, or consent if 18 years of age or older. Parents will provide consent for participants below the age of 18. For patients who do not have the capacity to provide informed consent, consent may be obtained from a guardian or the holder of the DPA.
• • Additionally, 7q11.23 CNV participants must have a typical, 7q11.23 CNV or other genetic abnormality in the Williams syndrome critical region of chromosome 7q11.23, and control participants must have normal intelligence.
• EXCLUSION CRITERIA:
• For all participants who will participate in MRI scanning, the following exclusion criteria will apply:
• • 1. Any chronic or acute medical condition severe enough to interfere with task performance or interpretation of MRI data.
• • 2. Any medication that might interfere with task performance or interpretation of MRI data.
• • 3. Any medical condition that increases risk for MRI (e.g. pacemaker, metallic foreign body in eye or other body part, dental braces).
• • 4. Pregnancy (a urine pregnancy test will be performed prior to all MRI procedures for all females of child-bearing potential.
• • 5. 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.