Phenome risk classification enables phenotypic imputation and gene discovery in developmental stuttering

Douglas M. Shaw; Hannah P. Polikowsky; Dillon G. Pruett; Hung-Hsin Chen; Lauren E. Petty; Kathryn Z. Viljoen; Janet M. Beilby; Robin M. Jones; Shelly Jo Kraft; Jennifer E. Below

doi:10.1016/j.ajhg.2021.11.004

Phenome risk classification enables phenotypic imputation and gene discovery in developmental stuttering

The American Journal of Human Genetics ◽

10.1016/j.ajhg.2021.11.004 ◽

2021 ◽

Vol 108 (12) ◽

pp. 2271-2283

Author(s):

Douglas M. Shaw ◽

Hannah P. Polikowsky ◽

Dillon G. Pruett ◽

Hung-Hsin Chen ◽

Lauren E. Petty ◽

...

Keyword(s):

Gene Discovery ◽

Risk Classification ◽

Developmental Stuttering

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An Introductory Examination of Speech Disfluencies in Spanish–English Bilingual Children Who Do and Do Not Stutter During Narratives

Perspectives of the ASHA Special Interest Groups ◽

10.1044/2019_persp-19-00040 ◽

2020 ◽

Vol 5 (1) ◽

pp. 131-141

Author(s):

Cristina Rincon ◽

Kia Noelle Johnson ◽

Courtney Byrd

Keyword(s):

Diagnostic Criteria ◽

Preliminary Data ◽

Diagnostic Information ◽

English Speakers ◽

Bilingual Children ◽

English Bilingual ◽

Developmental Stuttering ◽

Mean Length Of Utterance

Purpose The purpose of this study is to examine the frequency and type of speech disfluencies (stuttering-like and nonstuttering-like) in bilingual Spanish–English (SE) children who stutter (CWS) to SE children who do not stutter (CWNS) during narrative samples elicited in Spanish and English to provide further diagnostic information for this population and preliminary data toward an expansion of this study. Method Participants included six bilingual SE children (three CWS, three CWNS) ranging in age from 5 years to 7;5 (years;months) and recruited from the surrounding Houston, Texas area. Participants provided a narrative sample in English and Spanish. The frequency of speech disfluencies was tabulated, and mean length of utterance was measured for each sample. Results Results indicate that both talker groups exceed the diagnostic criteria typically used for developmental stuttering. Regardless of the language being spoken, CWS participants had a frequency of stuttering-like speech disfluencies that met or exceeded the diagnostic criteria for developmental stuttering that is based on monolingual English speakers. The CWNS participants varied in meeting the criteria depending on the language being spoken, with one of the three CWNS exceeding the criteria in both languages and one exceeding the criteria for percentage of stuttering-like speech disfluencies in one language. Conclusion Findings from this study contribute to the development of more appropriate diagnostic criteria for bilingual SE-speaking children to aid in the reduction of misdiagnoses of stuttering in this population.

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Disfluency Characteristics Observed in Young Children With Autism Spectrum Disorders: A Preliminary Report

Perspectives on Fluency and Fluency Disorders ◽

10.1044/ffd20.2.42 ◽

2010 ◽

Vol 20 (2) ◽

pp. 42-50 ◽

Cited By ~ 11

Author(s):

Laura W. Plexico ◽

Julie E. Cleary ◽

Ashlynn McAlpine ◽

Allison M. Plumb

Keyword(s):

Autism Spectrum Disorders ◽

Young Children ◽

Children With Autism ◽

Descriptive Study ◽

Autism Spectrum ◽

Typically Developing ◽

Children With Asd ◽

Young Children With Autism ◽

Spectrum Disorders ◽

Developmental Stuttering

This descriptive study evaluates the speech disfluencies of 8 verbal children between 3 and 5 years of age with autism spectrum disorders (ASD). Speech samples were collected for each child during standardized interactions. Percentage and types of disfluencies observed during speech samples are discussed. Although they did not have a clinical diagnosis of stuttering, all of the young children with ASD in this study produced disfluencies. In addition to stuttering-like disfluencies and other typical disfluencies, the children with ASD also produced atypical disfluencies, which usually are not observed in children with typically developing speech or developmental stuttering. (Yairi & Ambrose, 2005).

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