Defining the Brain Phenotype of Children With Williams Syndrome

Description

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.

Conditions

Williams Syndrome, Duplication

Study Overview

Study Details

Study overview

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.

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

Defining the Brain Phenotype of Children With Williams Syndrome

Condition
Williams Syndrome
Intervention / Treatment

-

Contacts and Locations

Bethesda

National Institutes of Health Clinical Center, Bethesda, Maryland, United States, 20892

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • 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.
  • 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.

Ages Eligible for Study

5 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

National Institute of Mental Health (NIMH),

Karen F Berman, M.D., PRINCIPAL_INVESTIGATOR, National Institute of Mental Health (NIMH)

Study Record Dates

N/A