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Genetic Factors Related to Stuttering

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: February 2005

Stuttering is an abnormality in speech that affects the rhythm of speech. People who stutter know what they wish to say, but at the time are unable to say it because of involuntary repetition, unnecessary lengthening (prolongation), or early stopping (cessation). This study is designed to increase understanding of the genetic factors that may relate to stuttering.

Deoxyribonucleic acid (DNA) is a protein found in the nucleus of all cells. It is responsible for carrying the genetic information of the organism. DNA provides the directions for making all of the substances in the human body. DNA can be linked together in small segments called genes. Genes can contain information about anything related to an organism.

In order for researchers to determine what genes are directly related to stuttering they must conduct several types of studies.

Linkage studies, are studies of families that have a lot of members who stutter from several generations. The linkage studies will be completed using adult individuals who are diagnosed as persons who stutter and persons who have never stuttered, from one or more families with large numbers of family members who have stuttered over several generations.

Candidate gene studies, look closely at genes suspected to be related to stuttering in patients who may or may not have a significant family history of stuttering.

By conducting these studies, researchers hope to learn more about genes related to stuttering and ultimately find out what causes stuttering.


Study Type: Observational
Official Title: Genetic Linkage Analysis in Developmental Stuttering: Gene Mapping in Extended Kindreds and Candidate Gene Analyses

Resource links provided by NLM:

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

Estimated Enrollment: 500
Study Start Date: October 1996
Estimated Study Completion Date: February 2005
Detailed Description:
Genetic studies in developmental stuttering are important for their potential in ultimately determining pathophysiological basis of this disorder. This study will combine two approaches to examine genetic aspects of stuttering, linkage in families, and candidate gene analysis. Linkage studies will be completed using adult individuals who are diagnosed as persons who stutter and those who can be judged as never having stuttered from one or more families with large numbers of affected individuals within several generations. Candidate gene analyses will also be carried out in adults who stutter to determine if the frequency of polymorphisms for certain neurotransmitter receptors and enzymes differ from control populations. In addition, given the heterogeneity of the population of adults who stutter, other phenotypic probes such as motor skills, language skills, neuropsychological abilities and psychological responses to stuttering will also be assessed in order to identify subgroups in which the phenotype expression of the gene may differ.

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


Subjects must be over the age of 5 and under the age of 90.

Subjects must be in general good health, without evidence of chronic medical illness.

Onset of stuttering in affected individuals must have occurred in childhood (between 3 and 10 years of age), unrelated to psychological or neurological trauma.

Subjects will not be tested for the presence of HIV antibodies. Persons with positive HIV antibodies will not be excluded, unless they are taking medication which may change their performance on tasks used for phenotypic assignment.

Subjects will be screened for history of psychiatric illness, such as depression, anxiety or obsessive-compulsive disorders according to DSM-IV criteria. A history of these disorders will not disqualify any subject from participation, but will be noted as a variable in phenotypic assignment.

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Please refer to this study by its identifier: NCT00001602

United States, Maryland
National Institute on Deafness and Other Communication Disorders (NIDCD)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Institute on Deafness and Other Communication Disorders (NIDCD)
  More Information

Publications: Identifier: NCT00001602     History of Changes
Other Study ID Numbers: 970002
Study First Received: November 3, 1999
Last Updated: March 3, 2008

Keywords provided by National Institutes of Health Clinical Center (CC):
Family Studies
Linkage Analysis

Additional relevant MeSH terms:
Speech Disorders
Language Disorders
Communication Disorders
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms processed this record on April 25, 2017