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Subtyping Children With Speech Sound Disorders by Endophenotypes.

Barbara A Lewis¹, Allison A Avrich, Lisa A Freebairn

¹Department of Psychological Sciences, Case Western Reserve University, Cleveland, Ohio.

Topics in Language Disorders

|July 31, 2012

Summary

Phonological memory, phonological awareness, and vocabulary are key endophenotypes for understanding speech sound disorders. These skills help differentiate subtypes and identify comorbid language and reading impairments.

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Area of Science:

Childhood speech-language pathology
Developmental psychology
Genetics of communication disorders

Background:

Speech sound disorders (SSD) are common in early childhood.
Identifying underlying skills (endophenotypes) can aid genetic research and clinical classification.
Previous research suggests links between specific cognitive skills and SSD subtypes.

Purpose of the Study:

To investigate associations between five endophenotypes and clinical criteria for SSD.
To examine how oral motor skills, phonological memory, phonological awareness, vocabulary, and speeded naming relate to SSD severity, subtypes, and comorbidities.
To determine the utility of these endophenotypes in classifying SSD.

Main Methods:

Children (ages 4-7) with SSD and their siblings were assessed.
Five endophenotypes were measured: oral motor skills, phonological memory, phonological awareness, vocabulary, and speeded naming.
SSD severity was quantified using Percent Consonants Correct-Revised (PCC-R) z-scores; analyses of variance compared endophenotypes across clinical subtypes.

Main Results:

Phonological memory was significantly associated with all three clinical classifications of SSD (severity, subtypes, comorbidities).
Phonological awareness differentiated SSD subtypes and comorbid language/reading disorders, but showed a weaker association with SSD severity.
Vocabulary was linked to SSD severity (mild vs. moderate) and comorbid language and reading disorders.

Conclusions:

Phonological memory, phonological awareness, and vocabulary are crucial endophenotypes for understanding SSD.
These endophenotypes effectively differentiate clinical subtypes of SSD and validate current classifications.
Findings support the use of these skills in research and clinical practice for SSD.