Children: X & Y Chromosome Variations
Join a Research Study: Enrolling nationally from around the country
The purpose of this study is to understand brain development during childhood and brain changes with aging. We will look at brain changes and development in healthy adults and children. We will also look at brain changes and development in people with different developmental disorders, including sex chromosome variations.
Previous studies have shown that parts of the brain develop at different times. They have also shown that brain development can be different in people with various diseases. However, we do not fully understand normal brain development and aging. We do not know how it differs in people with certain illnesses that affect thinking and behavior. We are just starting to understand how genes can affect brain development. This study examines the relationship between genes, brain development, and behavior throughout life. Participants have a research testing visit at the start of the study, and again every 2 years. We will use tests including brain imaging with magnetic resonance imaging (MRI). We will also use physical and psychological examination and evaluation, and genetic testing. We may also ask you to have a skin biopsy, which is described in a separate consent form. We hope that a better understanding of brain development may lead to improved prevention and treatment of mental and behavioral disorders in the future.
This study includes people in good physical health, who are over 3 years old. People in this study may be without any known psychiatric/medical conditions, or may have known conditions such as Sex Chromosome Variation, Autism Spectrum Disorder, Obsessive Compulsive Disorder, and ADHD.
In this part of the study we are currently enrolling participants ages 5 to 25 with X/Y chromosome variations, such as Klinefelter (XXY), XYY, XXX, XXYY syndromes and others.
Parents and one full same-gender sibling (5-25 years old) are also eligible to participate. Parents of 4 year olds are welcome to contact us to learn about participation when their child turns 5.
Those with X/Y chromosome variations and siblings will have an initial 2-day outpatient visit and will be invited to return every two years. Procedures during the visits include physical and mental health examinations, a blood draw, an MRI scan of the brain, and cognitive tests of thinking, memory, and attention. We may also ask you to have a skin biopsy. Parents will be interviewed and complete questionnaires. After the visit, we will provide a report of the research test results.
The study is conducted at the NIH Clinical Center in Bethesda, Maryland (just outside Washington, D.C.) and accepts participants from anywhere in the world. Transportation is provided from within the USA. Transportation, lodging, and meal allowance are included for the participant, one participating sibling, and one or two parents. There is no cost to participate in this outpatient visit and compensation is provided. Children must have parental permission to participate.
To find out if you qualify, email NIMH or call 1-301-435-4516 [TTY: 1-866-411-1010].
- NIMH Protocol Number: 89-M-0006
- ClinicalTrials.gov Study Number: 00001246