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

  • participants needed
  • sponsor
    National Institute of Mental Health (NIMH)
Updated on 17 September 2023
psychiatric disorder
functional magnetic resonance imaging
obsessive-compulsive disorder
pervasive developmental disorder
developmental disabilities
attention deficit disorder
asperger syndrome
tourette's syndrome
tourette syndrome
Accepts healthy volunteers


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.


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 the path 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 genetically-defined (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.

Condition Attention Deficit Hyperactivity Disorder, Schizophrenia, Attention Deficit Disorder With Hyperactivity
Clinical Study IdentifierNCT00001246
SponsorNational Institute of Mental Health (NIMH)
Last Modified on17 September 2023


Yes No Not Sure

Inclusion Criteria

Subjects consenting to participation in the study
Over 3 years of age with no upper limit for age at time of enrollment
Participants will meet protocol criteria for adult healthy volunteers
Male and female subjects over 3 years of age with no upper limit for age (with the exception of the Down syndrome group see below). Currently meet criteria for at least one of the following
DSM-IV (or other approved) criteria for one of the following clinical diagnoses: Multi-Dimensionally Impaired, Obsessive Compulsive Disorder, Childhood Onset Schizophrenia, Turner Syndrome, Autism Spectrum Disorder, Asperger Syndrome, High Functioning Autism, Pervasive Development Disorder
Sex chromosome aneuploidy as determined by karyotype (including XXX, XXXX, XXXXX, XXY, XXYY, XXXY, XXXXY, XYY)
ICD-10 criteria for Congenital Adrenal Hyperplasia, Cushings Syndrome, Kallmann Syndrome, normosmic hypogonadotropic hypogonadism, Androgen Insensitivity Syndrome
Down s Syndrome
Newly enrolled adults and minors once they become adults over age 18 who cannot give
consent due to limited capacity may have a surrogate, i.e., a legally
responsible representative (LAR), sign the consent. LARs include DPA holders
court-appointed legal guardians, or parents or siblings over 18 years of age
We will consult with the Human Subjects Protection Unit as necessary
Conners Teacher Hyperactivity rating greater than 2 SD above age- and sex-specific means
Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) defined
ADHD. The DSM-IV diagnosis of ADHD will be based on the Parent Diagnostic Interview for
Confirmed chromosomal diagnosis of Down syndrome
Children and Adolescents
Having a minimum IQ of 70
Age at entry into the study is 30 years or under. This upper age limit at study entry
is being implemented for the Down syndrome group for several reasons. First, much of
the research using magnetic resonance imaging with this population is focused on
(older) adult populations and in particular the transition to early onset Alzheimer s
disease. Because most (if not all) individuals with Down syndrome demonstrate some
brain pathology consistent with Alzheimer s disease by age 30 (e.g., plaques and
tangles; Mann & Esiri, 1989), we would like to enroll participants who are 30 years of
age and under. Second, studying children and young adults with Down syndrome fills a
significant gap in the literature, as there are very few structural magnetic resonance
imaging studies of children and young adults with Down syndrome reported in the
literature to date, and the majority of these studies are characterized by small
samples of convenience (i.e., clinic populations). Thus, there is still a need to
describe the developmental course of this disorder from early childhood to young
adulthood. Such developmental research may help shed light on the causes of
intellectual disability in Down syndrome and also identify individuals with the
syndrome who are most at risk for experiencing the cognitive decline that is reported
in the literature for some individuals after the age of 30 (Oliver et al., 1998)
Meeting DSM-IV criteria for one of the pervasive developmental disorders (i.e
autistic disorder, Asperger disorder, or pervasive developmental disorder-not
otherwise specified)

Exclusion Criteria

NIMH staff and their immediate family are excluded from participation
Presence or history of medical conditions known to affect cerebral anatomy
Dental braces
Dental braces
A full-scale IQ of less than 80
Birth before 34 weeks of gestation
Presence of severe psychiatric disorder (as diagnosed prior to subject study
enrollment) in the subject, sibling, or other first-degree relative. For these
purposes, exclusionary severe psychiatric disorder include schizophrenia and bipolar
affective disorder
Contraindications for MRI scanning according to the NMR Center MRI Safety Screening
Questionnaire and guidelines
For females who have reached menarche: Pregnancy or inability or unwillingness to
undergo pregnancy testing
Contraindications for MRI scanning according to the NMR Center MRI Safety Screening
Questionnaire and guidelines
For females who have reached menarche: Pregnancy or inability or unwillingness to
undergo pregnancy testing
Evidence of another medical condition or traumatic event known to affect cerebral
A known genetic disorder (other than the condition under investigation) that would be
expected to significantly impact findings from cognitive testing and/or neuroimaging
Other axis I psychiatric disorder requiring treatment with medication at study entry
(with the exception of oppositional-defiant disorder)
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