Defining the Brain Phenotype of Children With Williams Syndrome

NCT01132885 | Recruiting

• 2 other identifiers: 10011210-M-0112
• Study Type: observational
• Target: 415
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Williams Syndrome; Duplication

Keywords

MRI; Developmental; Genetic abnormalities in chromosome 7q11.23.; Duplication; Brain; Natural History; Williams Syndrome; Children; Healthy Volunteer; HV

Outcome Measures

Primary Outcomes (1)

• fMRI Task Procedures

  fMRI Task Procedures

  Ongoing

Study Arms (5)

Adults with WS or genetic abnormalities

Adults with Williams syndrome or genetic abnormalities in chromosome 7q11.23

Children with WS or genetic abnormalities

children ages 5-17 with Williams Syndrome or genetic abnormalities in chromosome 7q11.23

Parents

Parents of children with 7q11.23 CNV will undergo blood draws

Unaffected Siblings

Siblings of children with 7q11.23 CNV

Unrelated children

Typically developing children ages ages 5-17

Eligibility Criteria

• Age: 5 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Children with classic WS deletions, those with smaller deletions, and those with duplications of the WS region on chromosome band 7q11.23.

You may qualify if:

• Greater than 5 years old.
• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Institute of Mental Health (NIMH): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (6)

• Adolphs R, Tranel D, Damasio H, Damasio AR. Fear and the human amygdala. J Neurosci. 1995 Sep;15(9):5879-91. doi: 10.1523/JNEUROSCI.15-09-05879.1995.

  PMID: 7666173 BACKGROUND

• Ashburner J. A fast diffeomorphic image registration algorithm. Neuroimage. 2007 Oct 15;38(1):95-113. doi: 10.1016/j.neuroimage.2007.07.007. Epub 2007 Jul 18.

  PMID: 17761438 BACKGROUND

• Atkinson J, Braddick O, Rose FE, Searcy YM, Wattam-Bell J, Bellugi U. Dorsal-stream motion processing deficits persist into adulthood in Williams syndrome. Neuropsychologia. 2006;44(5):828-33. doi: 10.1016/j.neuropsychologia.2005.08.002. Epub 2005 Sep 15.

  PMID: 16168445 BACKGROUND

• Kippenhan JS, Gregory MD, Nash T, Kohn P, Mervis CB, Eisenberg DP, Garvey MH, Roe K, Morris CA, Kolachana B, Pani AM, Sorcher L, Berman KF. Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome. J Neurodev Disord. 2023 Aug 26;15(1):29. doi: 10.1186/s11689-023-09493-x.

  PMID: 37633900 DERIVED

• Chen G, Nash TA, Cole KM, Kohn PD, Wei SM, Gregory MD, Eisenberg DP, Cox RW, Berman KF, Shane Kippenhan J. Beyond linearity in neuroimaging: Capturing nonlinear relationships with application to longitudinal studies. Neuroimage. 2021 Jun;233:117891. doi: 10.1016/j.neuroimage.2021.117891. Epub 2021 Mar 3.

  PMID: 33667672 DERIVED

• Gregory MD, Kolachana B, Yao Y, Nash T, Dickinson D, Eisenberg DP, Mervis CB, Berman KF. A method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome. BMC Med Genet. 2018 Apr 4;19(1):53. doi: 10.1186/s12881-018-0563-3.

  PMID: 29614955 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Williams Syndrome

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Aortic Stenosis, Supravalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases; Heart Diseases; Cardiovascular Diseases; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Karen F Berman, M.D.

  National Institute of Mental Health (NIMH)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Tiffany A Nash

CONTACT

(240) 205-0333; tiffany.nash@nih.gov

Karen F Berman, M.D.

CONTACT

(301) 496-7603; bermank@mail.nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 27, 2010
• First Posted: May 28, 2010
• Study Start: January 23, 2011
• Last Updated: May 5, 2026

Record last verified: 2026-03-20

Locations

US (1)