Genetic Analysis of Attention Deficit Hyperactivity Disorder (ADHD)

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2015 by National Institutes of Health Clinical Center (CC)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ) Identifier:
First received: September 18, 2002
Last updated: November 4, 2015
Last verified: August 2015

Attention Deficit Hyperactivity Disorder (ADHD) is the most common behavioral disorder in childhood, affecting 3-5% of children between the ages of 7 and 17. Family studies suggest that there is a genetic component to ADHD. Scientists believe that it is a complex disorder in which two or more genes may be involved.

Potentially eligible families will be asked to give written consent to participate and will be asked to complete questionnaires for each member in the family. In addition, an interview will be administered to the parent of minors enrolled in the study to determine their eligibility for being in the study. This screening tool is computerized and will take approximately 45 minutes to administer per child.

Once screenings are completed, a blood collection kit will be sent to the family to take to their local medical care provider, have blood samples drawn and sent to NIH. There is no cost to the family to participate. We would like to enroll entire families, with both parents and all children.

Attention Deficit Disorder With Hyperactivity

Study Type: Observational
Official Title: Genetic Analysis of Attention Deficit Hyperactivity Disorder (ADHD)

Resource links provided by NLM:

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

Estimated Enrollment: 3900
Study Start Date: February 2000
Detailed Description:

Attention Deficit Hyperactivity Disorder (ADHD) is a prevalent neuropsychiatric disorder affecting 5% of children worldwide. A study of the hypothesis that Attention Deficit

Hyperactivity Disorder (ADHD) is a genetically influenced brain disorder has been undertaken using a two armed approach: 1) Isolated population analysis from a large, extended pedigree study done in Colombia, South America in a population isolate called the Paisa have been studied for the last 7 years; and a recently added second isolated in USA from Amish population at Lancaster, Co Pennsylvania; with different background and environmental influences, and 2) a U.S. based study of nuclear families with at least one affected child and at least one sibling (either affected or unaffected), and their parents. Following careful phenotyping, DNA from blood samples from these two genetically different groups will be analyzed through a genomewide scan for linkage and positional candidate approach to search for genes associated with ADHD. In addition comparison of genetic-environment interactions will be done on these two different populations. Genetic influence are to modulate biological aspects in cognition and behavioral manifestations. The prefrontal cortex and its connections is known to play a very important role in the processing of emotions and impulsivity. It is considered the primary biological component of a brain circuit that would explain the main clinical characteristics present in ADHD phenotype. Measurement of brain metabolites in this region may be very useful in phenotyping ADHD. Thus, after identification of specific genotype implicated in ADHD risk in the Colombian population, in a subset of already recruited individuals, phenotyping will include proton magnetic resonance spectroscopy (H MRS) to detect biochemical phenotypes which may be correlated with genetic markers for ADHD. Additional analysis for potential genetic-environment interactions will be done to compare isolated populations in different environments. Identification of a biological marker to be used to support and confirm clinical diagnosis is highly desirable.


Ages Eligible for Study:   7 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

For both the U.S. and the Columbian Studies, we plan to obtain blood samples from subjects meeting the following criteria:

Children, ages 7-17, affected with ADHD with siblings who are either affected or unaffected, and their parents. (in the Columbian Study, we will also gather information and blood samples from extended families).

Adult participants 18 years or older selected for MRS from the Paisa population will be included if they:

  1. share the haplotype that is in linkage disequilibrium at chromosome 11 p
  2. do not have devices such as pace makers, cochlear implants, metal clips in the brain, etc that would preclude them from undergoing magnetic resonance technology
  3. are not pregnant (pregnancy test will be administered) or breastfeeding
  4. do not have a mental condition such as claustrophobia which would make magnetic resonance technology unacceptable to them.

    In both arms of the study, both male and female probands will be accepted of any ethnic background as long as they meet the criteria listed above. While there is a preponderance of males with ADHD, all clinics see both male and female research participants. Also, in most cases the family unit will involve the mother as well as the father for testing. Hispanic families will be specially enrolled in the Colombian arm.

    For the H MRS study, no one is excluded based on race, gender, or socioeconomic status.

    However, participants must meet the inclusion criteria described.


    Exclude the following (if the condition could cause false positive ADHD):

    • Prematurity
    • Neurological conditions
    • Cardiac surgery
    • Prenatal drug exposure
    • Hydrocephaly
    • Mental Retardation (IQ< 80)
    • Known genetic syndromes
    • Known CNS disorders
    • Known lead toxicity
    • Tourette Disorder
    • Obsessive-Compulsive Disorder
    • Major Depression on both proband and affected sibling
    • Pervasive Developmental Disorder
    • Age under 7 years old
    • Autism
    • Other Psychoses
    • Post Traumatic Stress Disorder
    • Language Disorder (if known)
    • Severe Sensory Impairment (visual and hearing)

    No bilineal families for statistical reasons are to be included, i.e. families in which both father and mother are known to be affected with ADHD. In order to involve either parent, there must be affected siblings.

    Include, but note:

    • Oppositional Defiant Disorder
    • Conduct Disorder
    • Tic Disorder
    • Obsessive/Compulsive Symptoms
    • Anxiety/Phobias
    • Learning Disabilities
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00046059

Contact: Maximilian Muenke, M.D. (301) 402-8167

United States, California
University of California, Irvine Medical Center Recruiting
Orange, California, United States, 92668
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 Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Principal Investigator: Maximilian Muenke, M.D. National Human Genome Research Institute (NHGRI)
  More Information

Additional Information:
Responsible Party: National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ) Identifier: NCT00046059     History of Changes
Other Study ID Numbers: 000058, 00-HG-0058
Study First Received: September 18, 2002
Last Updated: November 4, 2015
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Gene Identification
Attention Deficit Hyperactivity Disorder

Additional relevant MeSH terms:
Attention Deficit Disorder with Hyperactivity
Attention Deficit and Disruptive Behavior Disorders
Mental Disorders
Mental Disorders Diagnosed in Childhood
Nervous System Diseases
Neurologic Manifestations
Signs and Symptoms processed this record on November 27, 2015