Genetic Linkage Studies of Stuttering
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Purpose
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.
| Condition |
|---|
|
Stuttering |
| Study Type: | Observational |
| Official Title: | Genetic Studies of Stuttering |
| Estimated Enrollment: | 4000 |
| Study Start Date: | January 1997 |
A 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 from 20 cc. of blood. These DNA samples will then be genotyped using markers distributed across the human genome, and the genotypic information analyzed to determine which markers show linkage to stuttering. The secondary goal of this study is to identify specific genetic variants which predispose individuals to stuttering. No genetic information will be provided back to participants.
Eligibility| Ages Eligible for Study: | 6 Years and older |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
- INCLUSION CRITERIA:
- Individuals age 8 and older.
- Individuals age 6-8 with a family history of persistent stuttering
- Have stuttering that persists for a period of 6 months or more or are a family member of that person
EXCLUSION CRITERIA:
- Stuttering only as a young child (not beyond the age of 5)
- Cannot provide informed consent or have a parent/guardian to provide consent
- Developed stuttering following trauma to the central nervous system.
- Chronic medical conditions that prevent informed consent or clear evaluation of stuttering, including stroke, dementia, and degenerative neurological disease.
Contacts and Locations| Contact: Dennis T Drayna, Ph.D. | (301) 402-4930 | drayna@mail.nih.gov |
| 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 prpl@mail.cc.nih.gov | |
| Principal Investigator: | Dennis T Drayna, Ph.D. | National Institute on Deafness and Other Communication Disorders (NIDCD) |
More Information
Additional Information:
Publications:
| ClinicalTrials.gov Identifier: | NCT00001604 History of Changes |
| Other Study ID Numbers: | 970057, 97-DC-0057 |
| Study First Received: | November 3, 1999 |
| Last Updated: | December 22, 2012 |
| Health Authority: | United States: Federal Government |
Keywords provided by National Institutes of Health Clinical Center (CC):
|
DNA Samples Buccal Swab Genotyping |
Statistical Analysis Computers Stuttering |
Additional relevant MeSH terms:
|
Stuttering Speech Disorders Language Disorders Communication Disorders |
Neurobehavioral Manifestations Neurologic Manifestations Nervous System Diseases Signs and Symptoms |
ClinicalTrials.gov processed this record on May 21, 2013