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

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.

[1]  L. Shriberg,et al.  Reliability studies in broad and narrow phonetic transcription , 1991 .

[2]  Ralph L. Rosnow,et al.  Essentials of Behavioral Research: Methods and Data Analysis , 1984 .

[3]  L. Elsas,et al.  A molecular approach to galactosemia , 2005, European Journal of Pediatrics.

[4]  Jordan R. Green,et al.  A nonword repetition task for speakers with misarticulations: the Syllable Repetition Task (SRT). , 2009, Journal of speech, language, and hearing research : JSLHR.

[5]  L. Shriberg,et al.  Developmental apraxia of speech: III. A subtype marked by inappropriate stress. , 1997, Journal of speech, language, and hearing research : JSLHR.

[6]  Wendy Roberts,et al.  Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. , 2006, American journal of human genetics.

[7]  J. Botkin.  Research for Newborn Screening: Developing a National Framework , 2005, Pediatrics.

[8]  A. Monaco,et al.  A forkhead-domain gene is mutated in a severe speech and language disorder , 2001, Nature.

[9]  T. Campbell,et al.  Nonword repetition and child language impairment. , 1998, Journal of speech, language, and hearing research : JSLHR.

[10]  S. Waisbren,et al.  Speech and language deficits in early-treated children with galactosemia. , 1983, The Journal of pediatrics.

[11]  L. Shriberg,et al.  Clinical research with the prosody-voice screening profile , 2001 .

[12]  G. Donnell,et al.  Long-term prognosis in galactosaemia: Results of a survey of 350 cases , 1990, Journal of Inherited Metabolic Disease.

[13]  Rohe N. Eshbaugh.  Illinois Test of Psycholinguistic Abilities. , 1971 .

[14]  S. Packman,et al.  Curious neurologic sequelae in galactosemia. , 1984, Pediatrics.

[15]  L D Shriberg,et al.  Developmental apraxia of speech: I. Descriptive and theoretical perspectives. , 1997, Journal of speech, language, and hearing research : JSLHR.

[16]  NEUROPSYCHOLOGICAL AND LINGUISTIC FOLLOW-UP STUDIES OF CHILDREN WITH GALACTOSEMIA FROM AN UNSCREENED POPULATION. 858 , 1996, Pediatric Research.

[17]  Roger L. Brown,et al.  A diagnostic marker for childhood apraxia of speech: the lexical stress ratio , 2003, Clinical linguistics & phonetics.

[18]  Rani H. Singh,et al.  Long-term speech and language developmental issues among children with Duarte galactosemia , 2009, Genetics in Medicine.

[19]  L. Shriberg,et al.  Perceptual and acoustic reliability estimates for the Speech Disorders Classification System (SDCS) , 2010, Clinical linguistics & phonetics.

[20]  Florence Clark,et al.  THE ILLINOIS TEST OF PSYCHOLINGUISTIC ABILITIES , 1982 .

[21]  T. Guyette,et al.  A Critical Review of Developmental Apraxia of Speech , 1981 .

[22]  L. Shriberg.  Childhood Speech Sound Disorders : From Postbehaviorism to the Postgenomic Era LAWRENCE , 2009 .

[23]  Jordan R. Green,et al.  A diagnostic marker for childhood apraxia of speech: the coefficient of variation ratio , 2003, Clinical linguistics & phonetics.

[24]  G. Donnell,et al.  Verbal dyspraxia in treated galactosemia. , 1991, Pediatrics.

[25]  J. Duffy,et al.  Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2. , 2006, Journal of speech, language, and hearing research : JSLHR.

[26]  C. R. Mehta,et al.  StatXact : a statistical package for exact non-parametric inference, Cytel Software Corporation, Cambridge, MA, USA , 1990 .

[27]  L. Shriberg.  A neurodevelopmental framework for research in childhood apraxia of speech , 2010 .

[28]  L. Elsas,et al.  Verbal Dyspraxia and Galactosemia , 2003, Pediatric Research.

[29]  L. Shriberg,et al.  Developmental phonological disorders. I: A clinical profile. , 1994, Journal of speech and hearing research.

[30]  D. Lee.  Psychological aspects of galactosaemia. , 2008, Journal of mental deficiency research.

[31]  E. Strand,et al.  Treatment of childhood apraxia of speech: clinical decision making in the use of nonspeech oral motor exercises. , 2008, Seminars in speech and language.

[32]  G. Mcclure,et al.  European Journal of Pediatrics , 1990, Archives of disease in childhood.

[33]  O. Skjeldal,et al.  Neuropsychological and linguistic follow‐up studies of children with galactosaemia from an unscreened population , 1996 .

[34]  H. Miller,et al.  Delayed Speech and Developmental Aphasia , 1955, British medical journal.

[35]  R. Giugliani,et al.  Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants , 1995, Journal of Inherited Metabolic Disease.

[36]  Jessica Brian,et al.  Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2 , 2006, American journal of medical genetics. Part A.

[37]  Lyle Jenkins,et al.  The genetics of language , 1979 .

[38]  S. Packman,et al.  Neurologic complications in galactosemia. , 1992, Pediatric neurology.

[39]  Lawrence D. Shriberg,et al.  Extensions to the Speech Disorders Classification System (SDCS) , 2010, Clinical linguistics & phonetics.

[40]  G. Marcus,et al.  The eloquent ape: genes, brains and the evolution of language , 2006, Nature Reviews Genetics.

[41]  Catherine M Stein,et al.  The genetic bases of speech sound disorders: evidence from spoken and written language. , 2006, Journal of speech, language, and hearing research : JSLHR.

[42]  L. Shriberg,et al.  Competing interests: None declared , 2008 .

[43]  F. Darley,et al.  Developmental apraxia of speech in children with defective articulation. , 1974, Journal of speech and hearing research.

[44]  Lawrence D. Shriberg,et al.  Speech Sound Disorder Influenced by a Locus in 15q14 Region , 2006, Behavior genetics.

[45]  J. Jan,et al.  Unusual Late Neurological Sequelae in Galactosaemia , 1973, Developmental medicine and child neurology.

[46]  E. Strand,et al.  Clinical management of motor speech disorders in children , 1999 .

[47]  C. Ludlow,et al.  Manual of Nerve Conduction Velocity and Clinical Neurophysiology, 3rd Ed. , 1994, Neurology.

[48]  L. Shriberg.  Four new speech and prosody-voice measures for genetics research and other studies in developmental phonological disorders. , 1993, Journal of speech and hearing research.

[49]  Lawrence D. Shriberg,et al.  THE PROSODY-VOICE SCREENING PROFILE (PVSP): PSYCHOMETRIC DATA AND REFERENCE INFORMATION FOR CHILDREN Phonology Project Technical Report No. 1 , 1997 .

[50]  D. Gilbert,et al.  An updated review of the long-term neurological effects of galactosemia. , 2005, Pediatric neurology.

[51]  L. Shriberg,et al.  Breakpoint localization using array‐CGH in three siblings with an unbalanced 4q;16q translocation and childhood apraxia of speech (CAS) , 2008, American journal of medical genetics. Part A.

[52]  Diane M. Austin,et al.  The speech disorders classification system (SDCS): extensions and lifespan reference data. , 1997, Journal of speech, language, and hearing research : JSLHR.

[53]  H. Catts,et al.  Speech Production/Phonological Deficits in Reading-Disordered Children , 1986, Journal of learning disabilities.

[54]  D. Lambert,et al.  Outcomes of siblings with classical galactosemia. , 2009, The Journal of pediatrics.

[55]  N. Sykes,et al.  Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. , 2005, American journal of human genetics.

[56]  M. Ball,et al.  Clinical Phonetics , 2008, The SAGE Encyclopedia of Human Communication Sciences and Disorders.

[57]  J. Brodehl,et al.  Long-term outcome in 134 patients with galactosaemia , 2005, European Journal of Pediatrics.

[58]  Raymond D. Kent,et al.  Acoustic patterns of apraxia of speech. , 1983, Journal of speech and hearing research.

[59]  L. Shriberg,et al.  Developmental apraxia of speech: II. Toward a diagnostic marker. , 1997, Journal of speech, language, and hearing research : JSLHR.

[60]  Katharine H. Odell,et al.  Prosody-voice characteristics of children and adults with apraxia of speech , 2001 .

[61]  L. Shriberg,et al.  A subtype of speech delay associated with developmental psychosocial involvement. , 2005, Journal of speech, language, and hearing research : JSLHR.

[62]  L. Elsas,et al.  Outcomes analysis of verbal dyspraxia in classic galactosemia , 2000, Genetics in Medicine.