Last updated on August 2020

Brain Imaging of Childhood Onset Psychiatric Disorders Endocrine Disorders and Healthy Volunteers


Brief description of study

Magnetic Resonance Imaging (MRI) unlike X-rays and CT-scans does not use radiation to create a picture. MRI use as the name implies, magnetism to create pictures with excellent anatomical resolution. Functional MRIs are diagnostic tests that allow doctors to not only view anatomy, but physiology and function. It is for these reasons that MRIs are excellent methods for studying the brain.

In this study, researchers will use MRI to assess brain anatomy and function in X and Y chromosome variation, healthy volunteers, and patients with a variety of childhood onset psychiatric disorders. The disorders include attention deficit disorder, autism, congenital adrenal hyperplasia, childhood-onset schizophrenia, dyslexia, obsessive compulsive disorder, Sydenham's chorea, and Tourette's syndrome.

Results of the MRIs showing the anatomy of the brain and brain function will be compared across age, sex (gender), and diagnostic groups. Correlations between brain and behavioral measures will be examined for normal and clinical populations.

Detailed Study Description

Objective: Our work is driven by the core hypotheses that many of the most severe neuropsychiatric disorders of childhood onset are associated with deviations from thepath of normal brain development, the neuroanatomical substrates of which can be detected by magnetic resonance imaging. Consequently, the long-term goals of the protocol are to: (1) map neuroanatomic and neurophysiological trajectories of brain development in health and illness; and (2) discern influences on those trajectories from demographic (e.g. age and sex), cognitive/behavioral (e.g. IQ), and clinical (e.g. presence/absence of a known neurogenetic disorders) factors. Data from the project have resulted in seminal papers on Attention-Deficit/Hyperactivity Disorder, Childhood-Onset Schizophrenia, and typical pediatric brain development. The biological bases of male / female differences are explored via studies of subjects with anomalous sex chromosome numbers (e.g. XO, XXX, XYY, XXYY, XXXXY).

Study population: Our studies include data from typically developing youth, and individuals with a range of psychiatric presentations from behaviorally-defined (e.g. Childhood-Onset Schizophrenia, Autism Spectrum Disorder) as well as geneticallydefined (e.g. Sex Chromosome Aneuploidy) groups. Participants span a wide age range (from 3 years of age upwards).

Design: The study design is to have participants come to the NIH for brain imaging, psychological/psychiatric testing, and genetic characterization. Assessment visits each take approximately 2 days to complete. Participants are invited to return for longitudinal assessments (at approximately 2-year intervals).

Outcome Measures: Primary outcome measure used to date have derived from T1-weighted structural neuroimaging data which enable us to characterize how a range of anatomical brain phenotypes vary as a function of age, sex, behavioral/cognitive traits, diagnostic status and genotype. Analyses also consider how these factors relate to other outcomes of interest including; gene expression levels, functional metrics from in vivo neuroimaging, and questionnaire/interview-based assessment of clinical features.

Clinical Study Identifier: NCT00001246

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Recruitment Status: Open


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