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Defining the Brain Phenotype of Children With Williams Syndrome

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01132885
Recruitment Status : Recruiting
First Posted : May 28, 2010
Last Update Posted : November 22, 2019
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Mental Health (NIMH) )

Brief Summary:


- 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.

Condition or disease
Williams Syndrome

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Study Type : Observational
Estimated Enrollment : 415 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Defining the Brain Phenotype of Children With Williams Syndrome
Actual Study Start Date : January 23, 2011

Resource links provided by the National Library of Medicine

Children with classic WS deletions
Children with smaller deletions

Primary Outcome Measures :
  1. fMRI Task Procedures [ Time Frame: Ongoing ]
    fMRI Task Procedures

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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Ages Eligible for Study:   5 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
High-functioning children with classic WS deletions, those with smaller deletions, and those with duplications of the WS region on chromosome band 7q11.23.

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 WS critical region of chromosome 7q11.23, and control participants must have normal intelligence.


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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01132885

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

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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 Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
National Institute of Mental Health (NIMH)
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Principal Investigator: Karen F Berman, M.D. National Institute of Mental Health (NIMH)
Additional Information:
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: National Institute of Mental Health (NIMH) Identifier: NCT01132885    
Other Study ID Numbers: 100112
First Posted: May 28, 2010    Key Record Dates
Last Update Posted: November 22, 2019
Last Verified: November 19, 2019
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Mental Health (NIMH) ):
Genetic abnormalities in chromosome 7q11.23.
Williams Syndrome
Healthy Volunteer
Additional relevant MeSH terms:
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Williams Syndrome
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Aortic Stenosis, Supravalvular
Aortic Valve Stenosis
Heart Valve Diseases
Heart Diseases
Cardiovascular Diseases
Chromosome Disorders
Congenital Abnormalities
Genetic Diseases, Inborn