Estimates of the Prevalence of Speech and Motor Speech Disorders in Youth With 22q11.2 Deletion Syndrome.

Adriane L. Baylis,Lawrence D. Shriberg

doi:10.1044/2018_ajslp-18-0037

Abstract

PurposeSpeech sound disorders and velopharyngeal dysfunction are frequent features of 22q11.2 deletion syndrome (22q). We report the first estimate of the prevalence of motor speech disorders (MSDs) in youth with 22q.MethodSeventeen children and adolescents with 22q completed an assessment protocol that included a conversational speech sample. Data reduction included phonetic transcription, perceptual speech ratings, prosody-voice coding, and acoustic analyses. Data analyses included 3 motor speech measures and a cross-classification analytic. Prevalence estimates of speech and MSDs in youth with 22q were compared with estimates in speakers with other complex neurodevelopmental disorders: Down syndrome, fragile X syndrome, and galactosemia.ResultsResults indicated that 58.8% of the participants with 22q met criteria for speech delay, and 82.4% of the participants met criteria for MSDs, including 29.4% with speech motor delay, 29.4% with childhood dysarthria, 11.8% with childhood apraxia of speech, and 11.8% with concurrent childhood dysarthria and childhood apraxia of speech. MSDs were not significantly associated with velopharyngeal dysfunction.ConclusionsIn summary, 82.4% of the participants with 22q met criteria for 1 of 4 MSDs, predominantly speech motor delay and childhood dysarthria. Cross-validation of the present findings would support viewing MSDs as a core phenotypic feature of 22q.

Highlights

Research in speakers with 22q has focused on speech disorders and VPD, a few studies have reported motor speech disorders (MSDs) in speakers with 22q, including childhood dysarthria and childhood apraxia of speech (CAS; e.g., Carneol et al, 1999; D’Antonio et al, 2001; Golding-Kushner et al, 1985; Kummer et al, 2007; Mills, Gosling, & Sell, 2006; Persson et al, 2003; Rakonjac et al, 2016; Solot et al, 2000)
At the power levels available for the present sample sizes, there were no statistically significant differences in the prevalences of each of the four types of MSDs in participants with 22q compared with prevalence estimates in participants with Down syndrome (DS), fragile X syndrome (FXS), and GAL assessed with the same measures
The present findings are viewed as initial estimates of the prevalence of MSDs in youth with 22q

Summary

Introduction

Prosodic abnormalities have been described (Gorlin & Baylis, 2009), and language delay is commonly reported (Glaser et al, 2002; Niklasson, Rasmussen, Óskarsdóttir, & Gillberg, 2001; Swillen et al, 1997) These segmental, suprasegmental, and language deficits have been associated with reduced speech intelligibility that is more severe and persistent in some children than observed in some speakers with Down syndrome (DS), cleft palate, and other phenotypic overlaps (Baylis, Munson, & Moller, 2008; D’Antonio et al, 2001; Persson, Lohmander, Jönsson, Óskarsdóttir, & Söderpalm, 2003; Rakonjac et al, 2016; Scherer, D’Antonio, & Kalbfleisch, 1999). Characteristics of dysarthria and presence and severity of VPD were not addressed

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