Genetic Linkage Studies of Stuttering
Summary
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). Stuttering is characterized by repetitions or prolongation of the first syllable, or silent prolongations, sometimes known as blocks.
Researcher intend on studying the genetic basis for stuttering. The goal of the study is to find the genes that help cause stuttering and determine regions of the human genetic make-up (genome) that are linked to stuttering.. To do this researchers will study the patterns of inheritance in families who have had members who stutter.
The study has two objectives. The first objective is to develop a large collection of DNA samples from individuals in stuttering families, that will include both members that stutter and who do not stutter.
The second objective of the study will be to find out the basic combination of genes (genotype) making up all of the participants DNA. Once this is completed researchers hope to map out and find areas or regions of DNA that are linked to stuttering.
Genetic linkage is the initial step in positional cloning, and the cloning of genes which predispose individuals to stuttering is a long term goal of this research study.
Description
The primary goal of this study is to ascertain regions of the human genome which show genetic linkage to stuttering. Genetic linkage will be determined by first obtaining genomic DNA from both affected and unaffected adults and children from families containing pairs of individuals who stutter as adults. Individuals who stutter from genetically isolated populations will also be sampled. Phenotype will be assigned by a speech-language pathologist, and DNA samples will be obtained from affected and unaffected family members by buccal swab or by 20 cc blood draw. These DNA's will then be genotyped using markers distributed across the human genome, and the genotypic information analyzed to determine which markers show linkage to stuttering. Genetic linkage is the initial step in the process of identification of specific genetic variants, which predispose individuals to stuttering is a long term goal of this research. No genetic information will be provided back to participants.
Study Design
N/A
Conditions
Stuttering
Location
National Institute on Deafness and Other Communication Disorders (NIDCD), 9000 R
Bethesda
Maryland
United States
20892
Status
Recruiting
Source
National Institutes of Health Clinical Center (CC)
Results (where available)
Links
- Source: http://clinicaltrials.gov/show/NCT00001604
- Information obtained from ClinicalTrials.gov on July 15, 2010
Medical and Biotech [MESH] Definitions
Stuttering
A disturbance in the normal fluency and time patterning of speech that is inappropriate for the individual's age. This disturbance is characterized by frequent repetitions or prolongations of sounds or syllables. Various other types of speech dysfluencies may also be involved including interjections, broken words, audible or silent blocking, circumlocutions, words produced with an excess of physical tension, and monosyllabic whole word repetitions. Stuttering may occur as a developmental condition in childhood or as an acquired disorder which may be associated with BRAIN INFARCTIONS and other BRAIN DISEASES. (From DSM-IV, 1994)
Clinical Trials
EXPRESS: Examining Pagoclone for Persistent Developmental Stuttering Study
The objective of the study is to determine the effects of pagoclone on the symptoms of Persistent Developmental Stuttering, using a flexible dosing titration regimen on persistent developm...
Genetic Factors Related to Stuttering
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 repeti...
Spacing Lidcombe Program Clinic Visits
The purpose of this study is to evaluate the efficiency of the Lidcombe Program for early stuttering by varying the time between clinic visits during the first stage of the program.
This is a research study of the investigational drug, Pagoclone, in the treatment of persistent developmental stuttering (PDS), which includes frequent repetitions or prolongations of soun...
A Study to Assess the Efficacy and Safety of Pagoclone for Adults With Stuttering
A multicenter, randomized, 3 arm, placebo-controlled clinical trial to assess the efficacy, safety and tolerability of pagoclone for adults with stuttering.
PubMed Articles
Identification of an autosomal recessive stuttering locus on chromosome 3q13.2-3q13.33.
Stuttering is a common speech disorder with substantial genetic contributions. To better understand the genetic factors involved in stuttering, we performed a genome-wide linkage study in a newly-asce...
Effect of continuous speech and non-speech signals on stuttering frequency in adults who stutter.
Abstract The inhibitory effects of continuously presented audio signals (/a/, /s/, 1,000 Hz pure-tone) on stuttering were examined. Eleven adults who stutter participated. Participants read four 300-s...
Characteristics of Disfluency Clusters Over Time in Preschool Children who Stutter.
PURPOSE: Disfluency clusters in preschool children were analyzed to determine whether they occurred at rates above chance, changed over time, and could differentiate children who would later persist i...
Neurogenic Stuttering: Its Reticular Modulation.
Emerging neurologic evidence has suggested that developmental and acquired stuttering may have a cerebral base. Investigations have revealed compensatory activation in the right cortical motor areas a...
Dual Diathesis-Stressor Model of Emotional and Linguistic Contributions to Developmental Stuttering.
This study assessed emotional and speech-language contributions to childhood stuttering. A dual diathesis-stressor framework guided this study, in which both linguistic requirements and skills, and em...
