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Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia.

ABSTRACT: In this article, the authors address the hypothesis that the severe and persistent speech disorder reported in persons with galactosemia meets contemporary diagnostic criteria for childhood apraxia of speech (CAS). A positive finding for CAS in this rare metabolic disorder has the potential to impact treatment of persons with galactosemia and inform explanatory perspectives on CAS in neurological, neurodevelopmental, and idiopathic contexts.Thirty-three youth with galactosemia and significant prior or persistent speech sound disorder were assessed in their homes in 17 states. Participants completed a protocol yielding information on their cognitive, structural, sensorimotor, language, speech, prosody, and voice status and function.Eight of the 33 participants (24%) met contemporary diagnostic criteria for CAS. Two participants, 1 of whom was among the 8 with CAS, met criteria for ataxic or hyperkinetic dysarthria. Groupwise findings for the remaining 24 participants are consistent with a classification category termed Motor Speech Disorder-Not Otherwise Specified (Shriberg, Fourakis et al., 2010a).The authors estimate the prevalence of CAS in galactosemia at 18 per hundred-180 times the estimated risk for idiopathic CAS. Findings support the need to study risk factors for the high occurrence of motor speech disorders in galactosemia despite early compliant dietary management.

SUBMITTER: Shriberg LD

PROVIDER: S-EPMC3070858 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature

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Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia.

Shriberg Lawrence D LD Potter Nancy L NL Strand Edythe A EA

Journal of speech, language, and hearing research : JSLHR 20101021 2

<h4>Purpose</h4>In this article, the authors address the hypothesis that the severe and persistent speech disorder reported in persons with galactosemia meets contemporary diagnostic criteria for childhood apraxia of speech (CAS). A positive finding for CAS in this rare metabolic disorder has the potential to impact treatment of persons with galactosemia and inform explanatory perspectives on CAS in neurological, neurodevelopmental, and idiopathic contexts.<h4>Method</h4>Thirty-three youth with ...[more]

PMID: 20966389

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Project description:PurposeThe purpose of this study was to investigate the association between perceived single-word speech severity and intelligibility in children with childhood apraxia of speech (CAS), with and without comorbid language impairment (LI), and to investigate the contribution of different CAS signs to perceived single-word speech severity and single-word intelligibility.MethodThirty children with CAS, 18 with comorbid LI, completed the Goldman-Fristoe Test of Articulation-Second Edition (GFTA-2). Trained judges coded children's responses for signs of CAS and percent phonemes correct. Nine listeners, blind to diagnoses, rated speech severity using a visual analog scale. Intelligibility was assessed by comparing listeners' orthographic transcriptions of children's responses to target responses.ResultsMeasures of speech severity (GFTA-2 standard score, number of unique CAS signs, total CAS signs, and mean severity rating) were significantly correlated with measures of intelligibility (GFTA-2 raw score, percent phonemes correct, and mean intelligibility score). Speech severity and intelligibility did not differ significantly between children with and without LI. Only consonant errors contributed significant variability to speech severity. Consonant errors and stress errors contributed significant variability to intelligibility.ConclusionsFindings suggest that visual analog scale ratings are a valid and convenient measure of single-word speech severity and that GFTA-2 raw score is an equally convenient measure of single-word intelligibility. The result that consonant errors were by far the major contributor to single-word speech severity and intelligibility in children with CAS, with stress errors also making a small contribution to intelligibility, suggests that consonant accuracy and appropriate lexical stress should be prime therapeutic targets for these children in the context of treatment addressing motor planning/programming, self-monitoring, and self-correcting.Supplemental materialhttps://doi.org/10.23641/asha.19119350.

Project description:Childhood apraxia of speech (CAS) is a rare, severe, persistent pediatric motor speech disorder with associated deficits in sensorimotor, cognitive, language, learning and affective processes. Among other neurogenetic origins, CAS is the disorder segregating with a mutation in FOXP2 in a widely studied, multigenerational London family. We report the first whole-exome sequencing (WES) findings from a cohort of 10 unrelated participants, ages 3 to 19 years, with well-characterized CAS.As part of a larger study of children and youth with motor speech sound disorders, 32 participants were classified as positive for CAS on the basis of a behavioral classification marker using auditory-perceptual and acoustic methods that quantify the competence, precision and stability of a speaker's speech, prosody and voice. WES of 10 randomly selected participants was completed using the Illumina Genome Analyzer IIx Sequencing System. Image analysis, base calling, demultiplexing, read mapping, and variant calling were performed using Illumina software. Software developed in-house was used for variant annotation, prioritization and interpretation to identify those variants likely to be deleterious to neurodevelopmental substrates of speech-language development.Among potentially deleterious variants, clinically reportable findings of interest occurred on a total of five chromosomes (Chr3, Chr6, Chr7, Chr9 and Chr17), which included six genes either strongly associated with CAS (FOXP1 and CNTNAP2) or associated with disorders with phenotypes overlapping CAS (ATP13A4, CNTNAP1, KIAA0319 and SETX). A total of 8 (80%) of the 10 participants had clinically reportable variants in one or two of the six genes, with variants in ATP13A4, KIAA0319 and CNTNAP2 being the most prevalent.Similar to the results reported in emerging WES studies of other complex neurodevelopmental disorders, our findings from this first WES study of CAS are interpreted as support for heterogeneous genetic origins of this pediatric motor speech disorder with multiple genes, pathways and complex interactions. We also submit that our findings illustrate the potential use of WES for both gene identification and case-by-case clinical diagnostics in pediatric motor speech disorders.

Dataset Information

Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia.

Publications

Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia.

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