Genetic Factors Related to Stuttering

Genetic Linkage Analysis in Developmental Stuttering: Gene Mapping in Extended Kindreds and Candidate Gene Analyses

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 Overview

• Status: Completed
• Conditions: Stuttering

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.

• Study Type: Observational
• Enrollment: 500

Contacts and Locations

Study Locations

• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • National Institute on Deafness and Other Communication Disorders (NIDCD)

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

INCLUSION CRITERIA:

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.

Study Plan

How is the study designed?

Collaborators and Investigators

• Sponsor: National Institute on Deafness and Other Communication Disorders (NIDCD)

Publications and helpful links

General Publications

• Andrews G, Craig A, Feyer AM, Hoddinott S, Howie P, Neilson M. Stuttering: a review of research findings and theories circa 1982. J Speech Hear Disord. 1983 Aug;48(3):226-46. doi: 10.1044/jshd.4803.226.
• Ambrose NG, Yairi E, Cox N. Genetic aspects of early childhood stuttering. J Speech Hear Res. 1993 Aug;36(4):701-6. doi: 10.1044/jshr.3604.701.
• Andrews G, Howie PM, Dozsa M, Guitar BE. Stuttering: speech pattern characteristics under fluency-inducing conditions. J Speech Hear Res. 1982 Jun;25(2):208-16.

Study record dates

Study Major Dates

• Study Start: October 1, 1996
• Study Completion: February 1, 2005

Study Registration Dates

• First Submitted: November 3, 1999
• First Submitted That Met QC Criteria: November 3, 1999
• First Posted (Estimate): November 4, 1999

Study Record Updates

• Last Update Posted (Estimate): March 4, 2008
• Last Update Submitted That Met QC Criteria: March 3, 2008
• Last Verified: February 1, 2005

More Information

Terms related to this study

• Keywords: Genetics; Polymorphism; Dopamine; Serotonin; Receptors; Stuttering; Linkage Analysis; Family Studies; Enzymes; Dysfluency
• Additional Relevant MeSH Terms: Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Language Disorders; Communication Disorders; Speech Disorders; Stuttering
• Other Study ID Numbers: 970002; 97-DC-0002