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Genetic Aspects of Neurologic and Psychiatric Disorders

This study has been completed.
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: November 3, 1999
Last updated: March 3, 2008
Last verified: March 2004

The purpose of this study is to improve the understanding of the genetic causes of specific neurologic and psychiatric disorders. The study will focus on conditions of mental retardation, childhood onset schizophrenia, attention deficit hyperactivity disorder (ADHD), atypical psychosis of childhood, and bipolar affective disorder.

The study addresses the belief that there may be several genes contributing to the illness. Researchers intend to use several molecular genetic techniques in order to identify the areas of chromosomes containing genes responsible for the development of these disorders.

Patients will be selected to participate in this study based on an early age of onset of their condition as well as the severity of the illness and the frequency of the illness among family members. Researchers will collect DNA samples from patients as well as affected and unaffected family members of each patient. The DNA samples collected will be analyzed for a variety of genetic abnormalities including; triplet repeat expansions, chromosome rearrangements, and polymorphisms.

Attention Deficit Disorder With Hyperactivity Bipolar Disorder Mental Disorder Diagnosed in Childhood Mental Retardation Schizophrenia

Study Type: Observational
Official Title: Genetic Aspects of Neurologic and Psychiatric Disorders

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 1227
Study Start Date: April 1996
Estimated Study Completion Date: March 2004
Detailed Description:
We propose to use DNA probes to study patients having specific neurologic and psychiatric disorders, especially focusing on patients with early onset or extreme phenotypes such as childhood onset schizophrenia (COS), mental retardation (MR), attention deficit hyperactivity disorder (ADHD), atypical psychosis of childhood, (multi-dimensional impairment MDI), and bipolar affective disorder (BPAD). This study addresses the hypothesis that genetic risk factors contribute to these diverse phenotypes. Several complementary molecular genetic techniques are employed to identify chromosomal regions containing genes contributing to specific neurologic and psychiatric disorders. Patients will be selected for this study on the basis of the age of onset and severity of neurologic or psychiatric symptoms, familial genetic loading and family structure. Individuals participating in this protocol will be clinically evaluated through other NIMH or NIH clinical protocols, particularly through those of the Child Psychiatry Branch (reference protocol numbers 85-M-0115, 84-M-0050, 97-M-0126). Those subjects meeting inclusion criteria may undergo a screening that may include physical, neurologic or psychiatric examinations. As appropriate, this initial screen may be followed by more formal, structured instruments such as the Schedule for Affective Disorders (SADS), the revised Weschler Adult Intelligence Scale (WAIS-R), the Conner's revised parent and teacher ratings, and the Diagnostic Interview for Children and Adolescents (DICA- version IV) to confirm the clinical diagnosis at the discretion of the treating physician. Venipuncture and/or buccal swabs will be performed in order to obtain samples for DNA extraction or to establish a lymphoblast cell line to be used in genetic tests. Samples will also be collected from family members and controls for these studies.

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No


Individuals with selected psychiatric and neurologic disorders, including childhood onset schizophrenia, atypical psychosis, mental retardation, bipolar affective disorder, and ADHD.

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Please refer to this study by its identifier: NCT00001544

United States, Maryland
National Institute of Mental Health (NIMH)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Institute of Mental Health (NIMH)
  More Information

Publications: Identifier: NCT00001544     History of Changes
Other Study ID Numbers: 960060
Study First Received: November 3, 1999
Last Updated: March 3, 2008

Keywords provided by National Institutes of Health Clinical Center (CC):
DNA Probes
Trinucleotide Repeats
Family Studies
Lymphoblast Cell Lines
Bipolar Affective Disorders
Mental Retardation
Neuropsychiatric Disorders

Additional relevant MeSH terms:
Schizophrenia Spectrum and Other Psychotic Disorders
Bipolar Disorder
Attention Deficit Disorder with Hyperactivity
Mental Disorders
Psychotic Disorders
Problem Behavior
Intellectual Disability
Neurodevelopmental Disorders
Pathologic Processes
Bipolar and Related Disorders
Attention Deficit and Disruptive Behavior Disorders
Behavioral Symptoms
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms processed this record on September 21, 2017