Defining the Brain Phenotype of Children With Williams Syndrome

This study is currently recruiting participants. (see Contacts and Locations)
Verified January 2014 by National Institutes of Health Clinical Center (CC)
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: May 27, 2010
Last updated: October 21, 2014
Last verified: January 2014


- Little is known about how the brain changes during childhood and adolescence, how genes affect this process, or how the brains of people with Williams syndrome change during this period. Genetic features of Williams syndrome affect the brain s development, but the details of this process have not been studied over time. Researchers are interested in using magnetic resonance imaging to study how the brain changes in healthy children and children with Williams syndrome and related genetic disorders.


- To study developmental changes in the brains of healthy children and children who have been diagnosed with Williams syndrome or a related genetic disorder.


  • 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 or genetic characteristics that overlap with Williams syndrome.


  • 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.

Williams Syndrome

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Defining the Brain Phenotype of Children With Williams Syndrome

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 215
Study Start Date: April 2010
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Ages Eligible for Study:   5 Years to 55 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes

For all participants, the following inclusion criteria will apply:

  1. Age 5-55 years.
  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.

Additionally, WS participants must have a typical WS or other genetic abnormality in the WS critical region of chromosome 7q11.23, and control participants must have normal intelligence.


For all participants, 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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01132885

Contact: Jasmin Czarapata, Ph.D. (301) 435-7645
Contact: Karen F Berman, M.D. (301) 496-7603

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
Principal Investigator: Karen F Berman, M.D. National Institute of Mental Health (NIMH)
  More Information

Additional Information:
Publications: Identifier: NCT01132885     History of Changes
Other Study ID Numbers: 100112, 10-M-0112
Study First Received: May 27, 2010
Last Updated: October 21, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Williams Syndrome
Healthy Volunteer

Additional relevant MeSH terms:
Aortic Stenosis, Supravalvular
Aortic Valve Stenosis
Cardiovascular Diseases
Chromosome Disorders
Genetic Diseases, Inborn
Heart Diseases
Heart Valve Diseases
Nervous System Diseases
Williams Syndrome
Congenital Abnormalities
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Pathologic Processes processed this record on October 21, 2014