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

Journal of Speech, Language, and Hearing Research

Volumn 54, Issue 2, 2011, Pages 487-519

  Shriberg, Lawrence D ^a   Potter, Nancy L ^b   Strand, Edythe A ^c  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

^b WASHINGTON STATE UNIVERSITY   (United States)

^c MAYO CLINIC   (United States)

Author keywords

Apraxia; Dyspraxia; Genetics; Motor speech disorder; Speech sound disorder

Indexed keywords

ADOLESCENT; ADULT; APRAXIA; ARTICLE; CHILD; COGNITION; DIET THERAPY; GALACTOSEMIA; GENETICS; GENOTYPE; HUMAN; PHENOTYPE; PHONETICS; PRESCHOOL CHILD; PREVALENCE; RECESSIVE GENE; RISK FACTOR; SPEECH ANALYSIS; SPEECH DISORDER;

ADOLESCENT; ADULT; APRAXIAS; CHILD; CHILD, PRESCHOOL; COGNITION; GALACTOSEMIAS; GENES, RECESSIVE; GENOTYPE; HUMANS; PHENOTYPE; PHONETICS; PREVALENCE; RISK FACTORS; SPEECH DISORDERS; SPEECH PRODUCTION MEASUREMENT; YOUNG ADULT;

EID: 79955598857     PISSN: 10924388     EISSN: None     Source Type: Journal    
DOI: 10.1044/1092-4388(2010/10-0068)     Document Type: Article

References (81)

1. American National Standards Institute. (1989). Specification for audiometers (ANSI 3.6-1989). New York: Author.
2. American Speech-Language-Hearing Association.(ASHA). (2007). Childhood apraxia of speech [Technical report]. Retrieved from www.asha.org/policy.
3. Botkin, J. R. (2005). Research for newborn screening: Developing a national framework. Pediatrics, 116, 862-871. Carrow-Woolfolk, E. (1995). OWLS: Oral and Written Language Scales. Circle Pines, MN: AGS.
4. Carrow-Woolfolk, E. (1995). OWLS: Oral and Written Language Scales. Circle Pines, MN: AGS.
5. Caruso, A. J., & Strand, E. A. (1999). Clinical management of motor speech disorders in children. New York, NY: Thieme Medical Publishers.
6. Catts, H. (1986). Speech production/phonological deficits in reading disordered children. Journal of Learning Disabilities, 19,504-508.
7. Cytel Software Corporation. (2001). StatXact (Version 5.0.3) [Computer software]. Cambridge, MA: Author.
8. Darley, F. L., Aronson, A. E., & Brown, J. R. (1975). Motor speech disorders. Philadelphia, PA: W. B. Saunders.
9. Dollaghan, C., & Campbell, T. F. (1998). Nonword repetition and child language impairment. Journal of Speech, Language, and Hearing Research, 41, 1136-1146.
10. Duffy, J. R. (2005). Motor speech disorders: Substrates, differential diagnosis, and management (2nd ed.). New York, NY: Elsevier Health Sciences.
11. Elsas, L. J., Langley, S., Paulk, E. M., Hjelm, L. N., & Dembure, P. P. (1995). A molecular approach to galactosemia. European Journal of Pediatrics, 154(Suppl. 2), S21-S27.
12. Feuk, L., Kalervo, A., Lipsanen-Nyman, M., Skaug, J., Nakabayashi, K., Finucane, B., Hannula-Jouppi, K. (2006). Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. American Journal of Human Genetics, 79, 965-972.
13. Fisher, S. E., & Marcus, G. F. (2006). The eloquent ape: Genes, brains, and the evolution of language. Nature Reviews Genetics, 7, 9-20.
14. Goldman, R., & Fristoe, M. (2000). Goldman Fristoe Test of Articulation-Second Edition. Circle Pines, MN: AGS.
15. Guyette, T., & Diedrich, W. (1981). A critical review of developmental apraxia of speech. In N. Lass (Ed.), Speech and language: Advances in basic research and practice (Vol. 5, pp. 1-49). New York, NY: Academic Press.
16. Hansen, T. W., Henrichsen, B., Rasmussen, R. K., Carling, A., Andressen, A. B., & Skjeldal, O. (1996). Neuropsychological and linguistic follow up studies of children with galactosaemia from an unscreened population. Acta Paediatrica, 85, 1197-1201.
17. Hauner, K. K. Y., Shriberg, L. D., Kwiatkowski, J., & Allen, C. T. (2005). A subtype of speech delay associated with developmental psychosocial involvement. Journal of Speech, Language, and Hearing Research, 48, 635-650.
18. Hickman, L. A. (1997). The Apraxia Profile: A descriptive assessment tool for children. San Antonio, TX: Communication Skill Builders.
19. Hughes, J., Ryan, S., Lambert, D., Geoghegan, O., Clark, A., Rogers,Y., Treacy, E.P.(2009). Outcomes of siblings with classical galactosemia. Journal of Pediatrics, 154, 721-726.
20. Jan, J. E., & Wilson, R. A. (1973). Unusual late neurological sequelae in galactosaemia. Developmental Medicine and Child Neurology, 15, 72-74.
21. Kaufman, A. S., & Kaufman, N. L. (2004). Kaufman Brief Intelligence Test-Second Edition (KBIT-2). San Antonio, TX: Pearson Assessments.
22. Kirk, S. A., McCarthy, J. J., & Kirk, W. D. (1968). The Illinois Test of Psycholinguistic Abilities. Urbana, IL: University of Illinois Press.
23. Koch, T. K., Schmidt, K. A., Wagstaff, J. E., Ng, W. G., & Packman, S. (1992). Neurologic complications in galactosemia. Pediatric Neurology, 8, 217-220.
24. Lai, C. S. L., Fisher, S. E., Hurst, J. A., Vargha-Khadem, F., & Monaco, A. P. (2001, October 4). A forkhead-domain gene is mutated in a severe speech and language disorder. Nature, 413, 519-523.
25. Lee, D. H. (1972). Psychological aspects of galactosaemia. Journal of Mental Deficiency Research, 16, 173-191.
26. Lewis, B. A. (2008, November). Genetics of speech sound disorders and neurological correlates. Paper presented at the Annual Convention of the American Speech-Language-Hearing Association, Chicago, IL.
27. Lewis, B. A., Shriberg, L. D., Freebairn, L. A., Hansen, A. J., Stein, C. M., Taylor, H. G., & Iyengar, S. K. (2006). The genetic bases of speech sound disorders: Evidence from spoken and written language. Journal of Speech, Language, and Hearing Research, 49, 1294-1312.
28. Lo, W., Packman, S., Nash, S., Schmidt, K., Ireland, S., Diamond, I., Donnell, G. (1984). Curious neurologic sequelae in galactosemia. Pediatrics, 73, 309-312.
29. MacDermot, K. D., Bonora, E., Sykes, N., Coupe, A.-M., Lai, C. S. L., Vernes, S. C., Fisher, S. E. (2005). Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. American Journal of Human Genetics, 76, 1074-1080.
30. McCauley, R. J., & Strand, E. (2008). Treatment of childhood apraxia of speech: Clinical decision making in the use of nonspeech oral motor exercises. Seminars in Speech and. Language, 29, 284-293.
31. McNeil, M. R., Robin, D. A., & Schmidt, R. A. (1997). Apraxia of speech: Definition, differentiation, and treatment. In M. R. McNeil (Ed.), Clinical management of sensorimotor speech disorders (pp. 311-344). New York, NY: Thieme Medical Publishers.
32. McSweeny, J. L., & Shriberg, L. D. (1995). Segmental and suprasegmental transcription reliability (Tech. Rep. No. 2). Phonology Project, Waisman Center, University of Wisconsin-Madison.
33. McSweeny, J. L., & Shriberg, L. D. (2001). Clinical research with the prosody-voice screening profile. Clinical Linguistics & Phonetics, 15, 505-528.
34. Milenkovic, P. (2000). Time-frequency analysis for 32-bit Windows [Computer software]. Madison, WI: University of Wisconsin-Madison.
35. Morley, M., Court, D., Miller, H., & Garside, R. (1955). Delayed speech and developmental aphasia. British Medical Journal, 2, 463-467.
36. Nelson, C. D., Waggoner, D. D., Donnell, G. N., Tuerck, J. M., & Buist, N. R. M. (1991). Verbal dyspraxia in treated galactosemia. Pediatrics, 88, 346-350.
37. Odell, K. H., & Shriberg, L. D. (2001). Prosody-voice characteristics of children and adults with apraxia of speech. Clinical Linguistics & Phonetics, 15, 275-307.
38. Potter, N. L., Lazarus, J. A., Johnson, J. M., Steiner, R. D., & Shriberg, L. D. (2008). Correlates of language impairment in children with galactosaemia. Journal of Inherited Metabolic Disease, 31, 524-532.
39. Powell, K. K., Van Naarden Braun, K., Singh, R. H., Shapira, S. K., Olney, R. S., & Yeargin-Allsopp, M. (2009). Long-term speech and language developmental issues among children with Duarte galactosemia. Genetics in Medicine, 11, 874-879.
40. Ramus, F., & Fisher, S. E. (2009). Genetics of language. In M. S. Gazzaniga (Ed.), The cognitive neurosciences IV, (pp. 855-871). Cambridge, MA: MIT Press.
41. Rice, G. M., Raca, G., Jakielski, K. J., Laffin, J. L., Iyama-Kurtycz, C., Hartley, S. L., & Shriberg, L. D. (2011). Phenotypic characterization of FOXP2 haploin-sufficiency. Manuscript in preparation.
42. Ridel, K. R., Leslie, N. D., & Gilbert, D. L. (2005). An updated review of the long-term neurological effects of galactosemia. Pediatric Neurology, 33, 153-161.
43. Robertson, A., Singh, R. H., Guerrero, N. V., Hundley, M., & Elsas, L. J. (2000). Outcomes analysis of verbal dyspraxia in classic galactosemia. Genetics in Medicine, 2, 142-148.
44. Robin, D. A., Jacks, A., & Ramage, A. E. (2008). The neural substrates of apraxia of speech as uncovered by brain imaging: A critical review. In R. J. Ingham (Ed.), Neuroimaging in communication sciences and disorders (pp. 129-154). San Diego, CA: Plural.
45. Rosenbek, J., & Wertz, R. (1972). A review of 50 cases of developmental apraxic speech. Journal ofSpeech andHearing Research, 26, 231-249.
46. Rosenthal, R., & Rosnow, R. L. (1991). Essentials of behavioral research: Methods and data analysis (2nd ed.). New York, NY: McGraw-Hill.
47. Schweitzer, S., Shin, Y., Jakobs, C., & Brodehl, J. (1993). Long-term outcome in 134 patients with galactosaemia. European Journal of Pediatrics, 152, 36-43.
48. Shriberg, L. D. (1993). Four new speech and prosody-voice measures for genetics research and other studies in developmental phonological disorders. Journal of Speech and Hearing Research, 36, 105-140.
49. Shriberg, L. (2010a). Childhood speech sound disorders: From post-behaviorism to the post-genomic era. In R. Paul & P. Flipsen (Eds.), Speech sound disorders in children: Essays in honor of Lawrence D. Shriberg (pp. 1-34). San Diego, CA: Plural.
50. Shriberg, L. D. (2010b). A neurodevelopmental framework for research in childhood apraxia of speech. In B. Maassen & P. van Lieshout (Eds.), Speech motor control: New developments in basic and applied research. Oxford, United Kingdom: Oxford University Press.
51. Shriberg, L. D. (2010c, March). Speech and genetic substrates of childhood apraxia of speech. Paper presented the 15thBiennial Conference on Motor Speech: Motor Speech Disorders and Speech Motor Control, Savannah, GA.
52. Shriberg, L. D., Allen, C. T., McSweeny, J. L., & Wilson, D. L. (2001). PEPPER: Programs to examine phonetic and phonologic evaluation records [Computer software]. Madison, WI: Waisman Center.
53. Shriberg, L. D., Aram, D. M., & Kwiatkowski, J. (1997a). Developmental apraxia of speech: I. Descriptive perspectives. Journal of Speech, Language, and Hearing Research, 40,273-285.
54. Shriberg, L. D., Aram, D. M., & Kwiatkowski, J. (1997b). Developmental apraxia of speech: II. Toward a diagnostic marker. Journal of Speech, Language, and Hearing Research, 40, 286-312.
55. Shriberg, L. D., Aram, D. M., & Kwiatkowski, J. (1997c). Developmental apraxia of speech: III. A subtype marked by inappropriate stress. Journal of Speech, Language, and Hearing Research, 40, 313-337.
56. Shriberg, L. D., Austin, D., Lewis, B. A., McSweeny, J. L., & Wilson, D. L. (1997). The Speech Disorders Classification System (SDCS): Extensions and lifespan reference data. Journal of Speech, Language, and Hearing Research, 40, 723-740.
57. Shriberg, L. D., Ballard, K. J., Tomblin, B. J., Duffy, J. R., Odell, K. H., & Williams, C. A. (2006). Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2. Journal of Speech, Language, and Hearing Research, 49, 500-525.
58. Shriberg, L. D., & Campbell, T. F. (Eds.). (2003). Proceedings of the 2002 Childhood Apraxia of Speech Research Symposium. Carlsbad, CA: The Hendrix Foundation.
59. Shriberg, L. D., Campbell, T. F., Karlsson, H. B., Brown, R. L., McSweeny, J. L., & Nadler, C. J. (2003). A diagnostic marker for childhood apraxia of speech: The lexical stress ratio. Clinical Linguistics & Phonetics, 17, 549-574.
60. Shriberg, L. D., Fourakis, M., Karlsson, H. K., Lohmeier, H. L., McSweeny, J., Potter, N. L., Wilson, D. L. (2010a). Extensions to the Speech Disorders Classification System(SDCS).ClinicalLinguistics&Phonetics,24,795-824.
61. Shriberg, L. D., Fourakis, M., Karlsson, H. K., Lohmeier, H. L., McSweeny, J., Potter, N. L., Wilson, D. L. (2010b). Perceptual and acoustic reliability estimates for the Speech Disorders Classification System (SDCS). Clinical Linguistics & Phonetics, 24, 825-846.
62. Shriberg, L. D., Green, J. R., Campbell, T. F., McSweeny, J. L., & Scheer, A. (2003). A diagnostic marker for childhood apraxia of speech: The coefficient of variation ratio. Clinical Linguistics & Phonetics, 17, 575-595.
63. Shriberg, L. D., Hersh, J., Karlsson, H. K., Kwiatkowski, J., Lohmeier, H. L., McSweeny, J. L., Wilson, D. L. (2008). Phonology project laboratory manual. Unpublished manual.
64. Shriberg, L. D., Jakielski, K. J., & El-Shanti, H. (2008). Breakpoint localization using array-CGH in three siblings with an unbalanced 4q:16q translocation and childhood apraxia of speech (CAS). American Journal of Medical Genetics, 146A, 2227-2233.
65. Shriberg, L. D., Jakielski, K. J., Raca, G., Laffin, J. J., Jackson, C. A., & Rice, G. M. (2011). Communication profiles of a mother and son with a disruption in FOXP2. Manuscript in preparation.
66. Shriberg, L. D., & Kent, R. D. (2003). Clinical phonetics (3rd ed.). Boston, MA: Allyn & Bacon.
67. Shriberg, L. D., & Kwiatkowski, J. (1994). Developmental phonological disorders I: A clinical profile. Journal of Speech and Hearing Research, 37, 1100-1126.
68. Shriberg, L. D., Kwiatkowski, J., & Rasmussen, C. (1990). The Prosody-Voice Screening Profile. Tucson, AZ: Communication Skill Builders.
69. Shriberg, L. D., Kwiatkowski, J., Rasmussen, C., Lof, G. L., & Miller, J. F. (1992). The Prosody-Voice Screening Profile (PVSP): Psychometric data and reference informaion for children (Technical Report No. 1). Madison, WI: Waisman Center.
70. Shriberg, L. D., & Lof, G. L. (1991). Reliability studies in broad and narrow phonetic transcription. Clinical Linguistics & Phonetics, 5, 225-279.
71. Shriberg, L. D., Lohmeier, H. L., Campbell, T. F., Dollaghan, C. A., Green, J. R., & Moore, C. A. (2009). A nonword repetition task for speakers with misarticulations: The Syl lable Repetition Task (SRT). Journal of Speech, Language, and Hearing Research, 52, 1189-1212.
72. Shriberg, L. D., & Olson, D. (1988). PEPAGREE: A program to compute transcription reliability [Computer software]. Madison, WI: Waisman Center.
73. Sommer, M., Gathof, B. S., Podskarbi, T., Giugliani, R., Kleinlein, B., & Shin, Y. S. (1995). Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants. Journal of Inherited Metabolic Disease, 18, 567-576.
74. Stein, C. M., Millard, C., Kluge, A., Miscimarra, L. E., Cartier, K. C., Freebairn, L. A., Iyengar, S. K. (2006). Speech sound disorder influenced by a locus in 15q14 region. Behavioral Genetics, 36, 858-868.
75. Waggoner, D. D., & Buist, N. R. (1993). Long-term complications in treated galactosemia: 175 U.S. cases. International Pediatrics, 8, 97-100.
76. Waggoner, D. D., Buist, N. R., & Donnell, G. N. (1990). Long-term prognosis in galactosaemia: Results of a survey of 350 cases. Journal of Inherited Metabolic Disease, 13, 802-818.
77. Waisbren, S. E., Norman, T. R., Schnell, R. R., & Levy, H. L. (1983). Speech and language deficits in early-treated children with galactosemia. The Journal of Pediatrics, 102, 75-77.
78. Webb, A. L., Singh, R. H., Kennedy, M. J., & Elsas, L. J. (2003). Verbal dyspraxia and galactosemia. Pediatric Research, 53, 396-402.
79. Woodcock, R. W., McGrew, K. S., & Mather, N. (2001). Woodcock-Johnson III. Itasca, IL: Riverside.
80. Yoss, K. A., & Darley, F. L. (1974). Developmental apraxia of speech in children with defective articulation. Journal of Speech and Hearing Research, 17, 399-416.
81. Zeesman, S., Nowaczyk, M. J. M., Teshima, I., Roberts, W., Oram Cardy, J., Brian, J., Scherer, S. W. (2006). Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. American Journal of Human Genetics: Part A, 140, 509-514.