Patient case (clinical description): A 15-year-old boy with mild intellectual disability is brought to the office by his parents for a routine physical examination.  The boy is going to a school for students with learning disabilities.  The patient was adopted, and his immunizations are up to date.  Review of the patient's medical records is notable for cytogenetic studies that showed a small gap near the tip of the long arm of the X chromosome, which is consistent with fragile X syndrome, an X-linked disorder. The defect is an unstable expansion of trinucleotide repeats (CGG) in the fragile X mental retardation 1 (FMR1) gene, located on the long arm of the X chromosome. He is not using any medications and vital signs are within normal levels. His blood chemistry analysis as bellow:
Blood Chemistry Value      Normal Range     Patient Value
Glucose                    90-120 mg/dl     95 mg/dl
BUN (Blood Urea Nitrogen)  7-24 mg/dl       10 mg/dl
Creatinine                 0.7-1.4 mg/dl    0.8 mg/dl
Calcium                    8.5-10.5 mg/dl   9 mg/dl
Sodium                     134-143 mEq/L    135 mEq/L
Potassium                  3.5-4.5 mEq/L    3.7 mEq/L
Chloride                   95-108 mEq/L     98 mEq/L
CO2                        20-30 mEq/L      25 mEq/L
Blood pH                   7.38-7.42        7. 39

Patient's own account: My husband and I brought our 15-year-old son to the clinic for his routine exam. My son is going to school for special needs students. We adopted him a few years ago. His vaccinations are up to date. He already passed some chromosome testing and they found that he has a fragile X syndrome. The doctor told us that it comes from repeats in the fragile X chromosome. My son is not using any medication and his blood pressure temperature and breathing were normal during the exam. He also did a blood test. The results came back and showed that his blood sugar urea creatinine calcium sodium potassium chloride CO2 and blood pH were all within the normal range.

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

Eligibility criteria:
-  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

        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.

        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).
No condition on gender to be admitted to the trial.
Accepts Healthy Volunteers
Subject must be at least 3 Years old.


Eligibility (NLI label): Contradiction