Article  |   April 2011
Prevalence and Phenotype of Childhood Apraxia of Speech in Youth With Galactosemia
Author Affiliations & Notes
  • Lawrence D. Shriberg
    Waisman Center, Madison, WI
    Waisman Center, Madison, WI
  • Nancy L. Potter
    Washington State University Spokane
    Washington State University Spokane
  • Edythe A. Strand
    Mayo Clinic, Rochester, MN
    Mayo Clinic, Rochester, MN
  • Correspondence to Lawrence D. Shriberg: shriberg@waisman.wisc.edu
  • Editor: Anne Smith
    Editor: Anne Smith×
  • Associate Editor: Fiona Gibbon
    Associate Editor: Fiona Gibbon×
Article Information
Speech, Voice & Prosodic Disorders / Special Populations / Genetic & Congenital Disorders / Speech, Voice & Prosody / Speech
Article   |   April 2011
Prevalence and Phenotype of Childhood Apraxia of Speech in Youth With Galactosemia
Journal of Speech, Language, and Hearing Research, April 2011, Vol. 54, 487-519. doi:10.1044/1092-4388(2010/10-0068)
History: Received March 8, 2010 , Revised June 18, 2010 , Accepted September 20, 2010
Journal of Speech, Language, and Hearing Research, April 2011, Vol. 54, 487-519. doi:10.1044/1092-4388(2010/10-0068)
History: Received March 8, 2010; Revised June 18, 2010; Accepted September 20, 2010
Web of Science® Times Cited: 12

Purpose: 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.

Method: 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.

Results: 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).

Conclusion: 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.

Acknowledgments
This research was supported by National Institute on Deafness and Other Communication Disorders Grant DC000496 and by a core grant to the Waisman Center from the National Institute of Child Health and Development (Grant HD03352). We thank the following colleagues and associations for their contributions to this study: Roger Brown, Marios Fourakis, Sheryl Hall, Jessica Hersh-Bollering, Heather Karlsson, Joan Kwiatkowski, Heather Lohmeier, Jane McSweeny, Lola Rickey, Rebecca Rutkowski, Alison Scheer-Cohen, Sue Siemsen, Ruth Stoeckel, Christie Tilkens, David Wilson, Parents of Galactosemic Children, Galactosemic Families of Minnesota, graduate students from Washington State University and Eastern Washington University, and the children and parents who participated in this study.
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