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Protocol Details

Defining the Brain Phenotype of Children with Williams Syndrome

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Institute of Mental Health (NIMH)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 5
Max Age: 70

Referral Letter Required


Population Exclusion(s)


Special Instructions

Currently Not Provided


Williams Syndrome;

Recruitment Keyword(s)

Williams Syndrome;
Healthy Volunteer;


Williams Syndrome

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Institute of Mental Health


- 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.

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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.

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.

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.

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Adolphs R, Tranel D, Damasio H, Damasio AR. Fear and the human amygdala. J Neurosci. 1995 Sep;15(9):5879-91.

Ashburner J. A fast diffeomorphic image registration algorithm. Neuroimage. 2007 Oct 15;38(1):95-113. Epub 2007 Jul 18.

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. Epub 2005 Sep 15.

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Principal Investigator

Referral Contact

For more information:

Karen F. Berman, M.D.
National Institute of Mental Health (NIMH)
BG 10 RM 3C109
(301) 496-7603

Tiffany A. Nash
National Institute of Mental Health (NIMH)
National Institutes of Health
Building 10
Room 3C209
10 Center Drive
Bethesda, Maryland 20892
(301) 443-8490

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Clinical Trials Number:


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