Protocol Details
Defining the Brain Phenotype of Children with 7q11.23 Copy Number Variation, Including Williams Syndrome and 7q11.23 Duplication Syndrome
This study is currently recruiting participants.
Summary
Number |
10-M-0112 |
Sponsoring Institute |
National Institute of Mental Health (NIMH) |
Recruitment Detail |
Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 5 Years
Max Age: N/A |
Referral Letter Required |
No |
Population Exclusion(s) |
None |
Keywords |
MRI;
Developmental;
Genetic abnormalities in chromosome 7q11.23.;
Duplication;
Brain;
Natural History |
Recruitment Keyword(s) |
Williams Syndrome;
Children;
Healthy Volunteer;
HV;
Duplication |
Condition(s) |
Williams Syndrome;
Duplication |
Investigational Drug(s) |
None |
Investigational Device(s) |
None |
Intervention(s) |
None |
Supporting Site |
National Institute of Mental Health |
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.
Eligibility
INCLUSION CRITERIA:
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 Williams syndrome critical region of chromosome 7q11.23, and control participants must have normal intelligence.
EXCLUSION CRITERIA:
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.
Citations:
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.
Contacts:
Clinical Trials Number:
NCT01132885