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Genetic Analysis of Attention Deficit Hyperactivity Disorder (ADHD)

This study has been completed.
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: April 20, 2017
Last verified: January 30, 2017

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):

Enrollment: 3481
Study Start Date: February 1, 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   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

This study will enroll families with the following characteristics:

  1. Families with children, seven through 17 years of age, diagnosed with ADHD (defined as the proband for the study).
  2. The probands siblings, either affected with ADHD (concordant) or unaffected (discordant), seven years of age and above, including adult siblings.
  3. The parents, both mothers and fathers, of enrolled probands.
  4. The study will enroll both male and female probands of any ethnic background and race. The prevalence of ADHD is higher in males than in females, so we would expect to have a higher number of male probands than female probands. Both male and female siblings and male and female parents of probands will be enrolled.
  5. Adults who are or may be unable to provide informed consent will be excluded.
  6. Probands with one parent affected with ADHD or with neither parent affected with ADHD are eligible. Probands from bilineal families, families with both parents affected with ADHD, will be excluded for statistical reasons.

Additional inclusion criteria for the study include:

1. Ability to read and understand spoken English, since the questionnaires, scales, and interviews that we have license to use in this study are in English.


Some conditions can confound the diagnosis of ADHD. Probands with the following conditions will be excluded from enrollment or will be withdrawn from the study if the condition is discovered subsequent to enrollment:

  • 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)

Probands with the following conditions may be included, but the conditions will be noted during statistical analysis:

  • 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

United States, California
University of California, Irvine Medical Center
Orange, California, United States, 92668
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
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 Human Genome Research Institute (NHGRI) Identifier: NCT00046059     History of Changes
Other Study ID Numbers: 000058
Study First Received: September 18, 2002
Last Updated: April 20, 2017

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
Pathologic Processes
Attention Deficit and Disruptive Behavior Disorders
Neurodevelopmental Disorders
Mental Disorders
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms processed this record on April 28, 2017