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

Study Description

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Brief Summary:

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.

Condition or disease
XXY (Klinefelter); Sex Chromosome Variation; Sex Chromosome Aneuploidy; XXXY; XXXXXY; XYY (Jacob); XXYY; X (XO, Turner); XXX (Trisomy X, Triple X); XXXX (Tetrasomy X); XXXXX (Pentasomy X)

Detailed Description:

Driven by the 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, we are acquiring brain images in healthy and neuropsychiatrically impaired subjects. To explore gene, brain, behavior relationships in health and illness we are also acquiring DNA along with clinical, behavioral, and cognitive data in singleton and twin populations. Controls and clinical populations are screened and characterized in behavioral, cognitive, and physical domains. Longitudinal brain MRI scans are acquired and analyzed using state-of-the-art image analysis techniques. Data from the project has resulted in seminal papers on Attention-Deficit/Hyperactivity Disorder, Childhood-Onset Schizophrenia, and normal pediatric brain development. The data from the normative project is unique in its longitudinal nature and sample size.

Study Design

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Study Type :	Observational
Estimated Enrollment :	6000 participants
Observational Model:	Cohort
Time Perspective:	Cross-Sectional
Official Title:	Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers
Study Start Date :	January 10, 1989

Groups and Cohorts

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Outcome Measures

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Primary Outcome Measures :

1. Volumetric MRI Data

Secondary Outcome Measures :

1. Cognitive Data

Eligibility Criteria

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Ages Eligible for Study:	3 Years and older (Child, Adult, Senior)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	Yes

Criteria

• Description of study populations:

Participants include typically developing subjects, subjects with a variety of neuropsychiatric conditions, and those with anomalous sex chromosome numbers or endocrine conditions.

The accrual ceiling is 6,000.

INCLUSION CRITERIA FOR HEALTHY CONTROLS:

Subjects consenting to participation in the study

Over 3 years of age with no upper limit for age at time of enrollment.

INCLUSION CRITERIA FOR MRI SCANNER CALIBRATION PROJECT:

Participants will meet protocol criteria for adult healthy volunteers

ADDITIONAL INCLUSION AND EXCLUSION CRITERIA FOR RETROSPECTIVE NEUROPSYCHOLOGICAL DATA COLLECTION:

INCLUSION CRITERIA:

At least 18 years of age

Previous qualifications as a healthy participant

At least 3 high quality structural MRI scans between the ages of 7 and 30 years.

Sufficient physical measures to ascertain growth during adolescence

INCLUSION CRITERIA FOR PATIENT POPULATIONS:

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

ADHD

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.

ADDITIONAL INCLUSION CRITERIA FOR ADHD PARTICIPANTS:

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 Children and Adolescents.

Conners Teacher Hyperactivity rating greater than 2 SD above age- and sex-specific means.

ADDITIONAL INCLUSION CRITERIA FOR DOWN SYNDROME PARTICIPANTS:

Confirmed chromosomal diagnosis of Down syndrome.

Age at entry into the study is 30 years or under.

ADDITIONAL INCLUSION CRITERIA FOR PARTICIPANTS WITH AUTISM SPECTRUM DISORDERS:

Meeting DSM-IV criteria for one of the pervasive developmental disorders (i.e., autistic disorder, Asperger disorder, or pervasive developmental disorder-not otherwise specified).

Having a minimum IQ of 70.

EXCLUSION CRITERIA:

NIMH staff and their immediate family are excluded from participation.

EXCLUSION CRITERIA FOR HEALTHY CONTROLS:

Presence of any psychiatric disorder in the subject, sibling, or other first-degree relative.

Current or past use of psychiatric medication.

Special service needs in school.

Presence or history of medical conditions known to affect cerebral anatomy.

Dental braces.

Metal in the body or other contraindications for MRI scanning.

For females who have reached menarche: Pregnancy or inability or unwillingness to undergo pregnancy testing.

ADDITIONAL EXCLUSION CRITERIA FOR RETROSPECTIVE NEUROPSYCHOLOGICAL DATA COLLECTION:

Presence of any psychiatric disorder in the subject.

Current or past use of psychiatric medication.

Presence or history of medical conditions known to affect cerebral anatomy.

EXCLUSION CRITERIA FOR ALL PATIENT POPULATIONS:

Dental braces.

Metal in the body or other contraindications for MRI scanning.

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 anatomy.

A known genetic disorder (other than the condition under investigation) that would be expected to significantly impact findings from cognitive testing and/or neuroimaging.

ADDITIONAL EXCLUSION CRITERIA FOR ADHD PARTICIPANTS:

A full-scale IQ of less than 80.

Birth before 34 weeks of gestation.

Other axis I psychiatric disorder requiring treatment with medication at study entry (with the exception of oppositional-defiant disorder).

Contacts and Locations

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Contacts

Contact: Jonathan Blumenthal	(301) 435-4516	jonathan.blumenthal@nih.gov

Locations

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike	Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 prpl@cc.nih.gov

Sponsors and Collaborators

National Institute of Mental Health (NIMH)

Investigators

Principal Investigator:	Armin Raznahan, M.D.	National Institute of Mental Health (NIMH)

More Information

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Additional Information:

NIH Clinical Center Detailed Web Page 

Publications:

Raznahan A, Shaw PW, Lerch JP, Clasen LS, Greenstein D, Berman R, Pipitone J, Chakravarty MM, Giedd JN. Longitudinal four-dimensional mapping of subcortical anatomy in human development. Proc Natl Acad Sci U S A. 2014 Jan 28;111(4):1592-7. doi: 10.1073/pnas.1316911111. Epub 2014 Jan 13.

Raznahan A, Probst F, Palmert MR, Giedd JN, Lerch JP. High resolution whole brain imaging of anatomical variation in XO, XX, and XY mice. Neuroimage. 2013 Dec;83:962-8. doi: 10.1016/j.neuroimage.2013.07.052. Epub 2013 Jul 25.

Goddings AL, Mills KL, Clasen LS, Giedd JN, Viner RM, Blakemore SJ. The influence of puberty on subcortical brain development. Neuroimage. 2014 Mar;88:242-51. doi: 10.1016/j.neuroimage.2013.09.073. Epub 2013 Oct 11.

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

Lenroot RK, Blumenthal JD, Wallace GL, Clasen LS, Lee NR, Giedd JN. A case-control study of brain structure and behavioral characteristics in 47,XXX syndrome. Genes Brain Behav. 2014 Nov;13(8):841-9. doi: 10.1111/gbb.12180. Epub 2014 Oct 27.

Responsible Party:	National Institute of Mental Health (NIMH)
ClinicalTrials.gov Identifier:	NCT00001246 History of Changes
Other Study ID Numbers:	890006; 89-M-0006
First Posted:	November 4, 1999
Last Update Posted:	April 2, 2018
Last Verified:	December 3, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Mental Health (NIMH) ):

Klinefelter Syndrome; Cognitive; Genetics; Development; Jacob Syndrome; Trisomy X; Healthy Volunteer; XXY; XXXY; XXXXY	XYY; XXYY; XO; XXXX; XXX; XXXXX; Triple X; Congenital Adrenal Hyperplasia; Twin

Additional relevant MeSH terms:

Klinefelter Syndrome; Mental Disorders; Problem Behavior; Aneuploidy; Trisomy; Endocrine System Diseases; Tetrasomy; Behavioral Symptoms; Chromosome Aberrations; Pathologic Processes	Chromosome Duplication; Sex Chromosome Disorders of Sex Development; Disorders of Sex Development; Urogenital Abnormalities; Sex Chromosome Disorders; Chromosome Disorders; Congenital Abnormalities; Genetic Diseases, Inborn; Gonadal Disorders; Hypogonadism