Hereditary Deficits in Auditory Processing Leading to Language Impairment

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00004570
Recruitment Status : Completed
First Posted : February 15, 2000
Last Update Posted : June 12, 2018
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute on Deafness and Other Communication Disorders (NIDCD) )

Brief Summary:

Some children with certain language disorders may not properly process the sounds they hear, resulting in language impairments. The purpose of this study is to determine if deficits in auditory temporal processing the way the brain analyzes the timing and patterns of sounds are an inherited trait.

Families with auditory temporal processing deficits are sought in order to identify the genes responsible for auditory temporal processing deficits. Children and adults with a diagnosis or history of language impairment in the family and their family members both affected and non-affected are eligible for this two-part study. In Part 1, participants undergo a series of language tests and listening tests to measure various characteristics of how they perceive sound. In Part 2, they are interviewed about language disorders, learning disabilities, and other medical problems of family members. This information is used to construct a pedigree (family tree diagram) showing the pattern of inheritance of family traits. Study subjects whose pedigree indicates that language disorders may be hereditary in their family will provide either a small blood sample (1 to 2 tablespoons) or a tissue specimen obtained from a cheek swab (rubbing the inside of the cheek with a small brush or cotton swabs). The sample will be used to isolate DNA for genetic analysis.

Condition or disease
Auditory Perceptual Disorder Language Delay Language Disorder

Detailed Description:


Recent research implicates auditory processing deficits in the etiology of language impairments, but no standard methodology has been employed to determine whether auditory processing deficits are heritable traits. We will investigate whether auditory processing skills and auditory processing disorders (APDs) are hereditary.

Study Population

We will study same-sex twins (healthy volunteers) and individuals who score in the top or bottom 10th percentile on auditory processing tests and their first-degree family members.

Design: A Two-Phase, Staged Study

Our approach uses the two classical methods of demonstrating heritability: comparison of monozygotic (MZ) to dizygotic (DZ) concordance rates in twins and measuring familial aggregation of a trait. While there are a variety of auditory processing tests in common use, there is no standard battery of tests for the diagnosis of APD.

Moreover, the normal variation in performance on many of these tests is not known. We will systematically evaluate tests of auditory processing for variation in the general population and for evidence of heritability.

Phase 1 Twin study

We will evaluate a variety of auditory processing tests in MZ and same-sex DZ twins. This initial phase of the study is designed to provide data so that the performance of MZ twin pairs can be compared to the performance of DZ twin pairs. Statistical modeling will be used to estimate the relative contributions of heredity and environment to auditory processing skills. In addition, we will examine variation in auditory processing skills in the general population of twins. This will allow us to identify auditory processing skills and tests that have the greatest heritable components, and to establish normative data for the tests we administer.

Phase 2 Family aggregation study

Based on the outcomes of Phase 1, auditory processing tests of skills with the highest heritable component will be selected for evaluation of probands. Those who score in the top and bottom 10th percentile will be eligible for participation as probands in this phase of the study. Variation of these skills in the general population, as determined by the twin data (Phase 1) or published norms, when they are available, will be used to determine the top and bottom 10th percentiles. This same test set will be administered to probands and at least two first-degree relatives allowing us to determine whether traits related to auditory processing occur within the family at a rate greater than chance.

Outcome Measures

Phase 1 outcome measures will be individual performance on tests of auditory processing skills and comparative performance of MZ and DZ co-twin pairs on these tests. Phase II outcome measures will be the performance on auditory processing measures of probands and their family members, and affectance rates observed in these families.<TAB>

Study Type : Observational
Actual Enrollment : 875 participants
Official Title: Identification of Hereditary Auditory Temporal Processing Deficits
Study Start Date : February 11, 2000

Information from the National Library of Medicine

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, Learn About Clinical Studies.

Ages Eligible for Study:   6 Years to 85 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

6-85 years of age

Native English speaker, with English as the first language

Phase 1 Same sex twins (MZ or DZ) and both willing and able to participate in test procedures.

Phase 2 Score in the top or bottom 10th percentile on tests of auditory processing or are a first-degree relative of someone who scores in the top or bottom 10th percentile and are willing and able to participate in the test procedures.


Hearing loss, defined as air conduction pure tone thresholds (250-8000 Hz) exceeding 20 dBHL; air-bone gaps, even in the presence of normal hearing sensitivity, exceeding 10 dBHL; and/or abnormal tympanometry.

History of chronic (fluid in middle ear for more than 4 months) or recurrent otitis media (more than 4 episodes of acute otitis media in one year)

History of ear surgery.

History or diagnosis of a central nervous system disorder, including but not limited to:

  • Intracranial tumors
  • Cerebrovascular disease
  • Degenerative CNS disorder
  • CNS trauma
  • Encephalitis
  • Meningitis
  • Auditory neuropathy
  • Attention deficit hyperactivity disorder (ADHD)
  • Attention deficit disorder (ADD)

Currently taking medications capable of altering CNS function (e.g. antidepressants, anxiolytics, or a psychostimulant drugs such as ritalin).

History of treatment with ototoxic medications that may affect ultrahigh frequency hearing (e.g. cisplatin, aminoglycoside antibiotics).

Unable to provide consent or assent

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00004570

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Institute on Deafness and Other Communication Disorders (NIDCD)
Principal Investigator: Carmen C Brewer, Ph.D. National Institute on Deafness and Other Communication Disorders (NIDCD)

Additional Information:
Responsible Party: National Institute on Deafness and Other Communication Disorders (NIDCD) Identifier: NCT00004570     History of Changes
Other Study ID Numbers: 000073
First Posted: February 15, 2000    Key Record Dates
Last Update Posted: June 12, 2018
Last Verified: September 7, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute on Deafness and Other Communication Disorders (NIDCD) ):
Temporal Processing
Language Impairment
Linkage Analysis
Language Delay
Auditory Temporal Processing Disorder
Speech Impediment

Additional relevant MeSH terms:
Auditory Perceptual Disorders
Language Disorders
Perceptual Disorders
Language Development Disorders
Pathologic Processes
Communication Disorders
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Auditory Diseases, Central
Retrocochlear Diseases
Ear Diseases
Otorhinolaryngologic Diseases
Brain Diseases
Central Nervous System Diseases
Cognition Disorders
Neurocognitive Disorders
Mental Disorders