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Protocol Details

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

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

89-M-0006

Sponsoring Institute

National Institute of Mental Health (NIMH)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 3
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

None

Special Instructions

This is not a treatment protocol.

Keywords

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

Recruitment Keyword(s)

Congenital Adrenal Hyperplasia;
Twin

Condition(s)

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)

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Mental Health

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.

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Eligibility

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. 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).

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 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

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

-Dental braces.

-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.

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.

-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 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).


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Citations:

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.

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.

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Contacts:

Principal Investigator

Referral Contact

For more information:

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



Jonathan Blumenthal
National Institute of Mental Health (NIMH)
National Institutes of Health
Building 10
Room 4D18
10 Center Drive
Bethesda, Maryland 20892
(301) 435-4516
jonathan.blumenthal@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT00001246

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