Speech and Language Issues in Children with Prader-Willi Syndrome
DOI:
https://doi.org/10.6000/2292-2598.2014.02.03.2Keywords:
Prader-Willi syndrome, apraxia, speech delay.Abstract
Background: Prader-Willi syndrome (PWS) is a genetic disorder caused by the lack of the paternal contribution of Chromosome 15q11.2-q13.2 region. It is associated with global developmental delays, including speech and language delay. There is no information regarding the prevalence of apraxia of speech in this syndrome, despite the fact that it is often recognized clinically. In this study, we sought to investigate the prevalence of apraxia in children with PWS and speech and language delay.
Methods: Thirty children with genetically confirmed PWS, ages 22 months to 9 years of age, were evaluated by a certified speech-language pathologist due to physician concerns about speech and language development. Children were assessed by a variety of tests based on their age.
Results: Sixteen children had receptive language deficits and 18 had expressive language deficits. Fourteen of the thirty children (47%) had results on evaluation that were consistent with apraxia, of which 57% were male, and 71% (p<0.001) had deletion-type PWS.
Conclusion: As expected, children with PWS who are referred for concerns about speech and language development are commonly found to have receptive and expressive language deficits. However, there was a high prevalence of apraxia in our patients, which has not previously been reported in this population. We recommend that children with PWS be evaluated for apraxia by a speech-language pathologist once their expressive language skills are developed enough for speech assessment. The diagnosis of apraxia will necessitate specific speech therapy techniques which may not otherwise be used for individuals with this syndrome, thus resulting in more severe and prolonged speech delays.
References
Cassidy SB, Driscoll DJ. Prader-Willi syndrome. Eur J Hum Genet 2009; 17(1): 3-13. http://dx.doi.org/10.1038/ejhg.2008.165 DOI: https://doi.org/10.1038/ejhg.2008.165
Butler MG, Fischer W, Kibiryeva N, Bittel DC. Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome. Am J Med Genet A 2008; 146(7): 854-60. http://dx.doi.org/10.1002/ajmg.a.32249 DOI: https://doi.org/10.1002/ajmg.a.32249
Bittel DC, Kibiryeva N, Butler MG. Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome. Pediatrics 2006; 118(4): e1276-83. http://dx.doi.org/10.1542/peds.2006-0424 DOI: https://doi.org/10.1542/peds.2006-0424
Zarcone J, Napolitano D, Peterson C, Breidbord J, Ferraioli S, Caruso-Anderson M, Holsen L, Butler MG, Thompson T. The relationship between compulsive behaviour and academic achievement across the three genetic subtypes of Prader-Willi syndrome. J Intellect Disabil Res 2007; 51(Pt. 6): 478-87. http://dx.doi.org/10.1111/j.1365-2788.2006.00916.x DOI: https://doi.org/10.1111/j.1365-2788.2006.00916.x
Goldstone AP. The hypothalamus, hormones, and hunger: alterations in human obesity and illness. Prog Brain Res 2006; 153: 57-73. http://dx.doi.org/10.1016/S0079-6123(06)53003-1 DOI: https://doi.org/10.1016/S0079-6123(06)53003-1
Woodcock KA, Oliver C, Humphreys GW. The relationship between specific cognitive impairment and behaviour in Prader-Willi syndrome. J Intellect Disabil Res 2011; 55(2): 152-71. http://dx.doi.org/10.1111/j.1365-2788.2010.01368.x DOI: https://doi.org/10.1111/j.1365-2788.2010.01368.x
Saeves R, Asten P, Storhaug K, Bågesund M. Orofacial dysfunction in individuals with Prader-Willi syndrome assessed with NOT-S. Acta Odontol Scand 2011; 69(5): 310-5. http://dx.doi.org/10.3109/00016357.2011.568961 DOI: https://doi.org/10.3109/00016357.2011.568961
Misquiatti AR, Cristovão MP, Brito MC. Trajectory and outcomes of speech language therapy in the Prader-Willi syndrome (PWS): case report. J Soc Bras Fonoaudiol 2011; 23(1): 77-81. http://dx.doi.org/10.1590/S2179-64912011000100016 DOI: https://doi.org/10.1590/S2179-64912011000100016
Miller JL, Couch JA, Schmalfuss I, He G, Liu Y, Driscoll DJ. Intracranial abnormalities detected by three-dimensional magnetic resonance imaging in Prader-Willi syndrome. Am J Med Genet A 2007; 143(5): 476-83. http://dx.doi.org/10.1002/ajmg.a.31508 DOI: https://doi.org/10.1002/ajmg.a.31508
Van Borsel J, Defloor T, Curfs LM. Expressive language in persons with Prader-Willi syndrome. Genet Couns 2007; 18(1): 17-28.
Miller JL, Couch JA, Leonard CM, Schwenk K, Towler SD, Shuster J, Goldstone AP, He G, Driscoll DJ, Liu Y. Sylvian fissure morphology in Prader-Willi syndrome and early-onset morbid obesity. Genet Med 2007; 9(8): 536-43. http://dx.doi.org/10.1097/GIM.0b013e31812f720d DOI: https://doi.org/10.1097/GIM.0b013e31812f720d
Stein CM, Millard C, Kluge A, Miscimarra LE, Cartier KC, Freebairn LA, Hansen AJ, Shriberg LD, Taylor HG, Lewis BA, Iyengar SK. Speech sound disorder influenced by a locus in 15q14 region. Behav Genet 2006; 36(6): 858-68. http://dx.doi.org/10.1007/s10519-006-9090-7 DOI: https://doi.org/10.1007/s10519-006-9090-7
Doornbos M, Sikkema-Raddatz B, Ruijvenkamp CA, Dijkhuizen T, Bijlsma EK, Gijsbers AC, Hilhorst-Hofstee Y, Hordijk R, Verbruggen KT, Kerstjens-Frederikse WS, van Essen T, Kok K, van Silfhout AT, Breuning M, van Ravenswaaij-Arts CM. Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances. Eur J Med Genet 2009; 52(2-3): 108-15. http://dx.doi.org/10.1016/j.ejmg.2009.03.010 DOI: https://doi.org/10.1016/j.ejmg.2009.03.010
Burnside RD, Pasion R, Mikhail FM, Carroll AJ, Robin NH, Youngs EL, Gadi IK, Keitges E, Jaswaney VL, Papenhausen PR, Potluri VR, Risheg H, Rush B, Smith JL, Schwartz S, Tepperberg JH, Butler MG. Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet 2011; 130(4): 517-28. http://dx.doi.org/10.1007/s00439-011-0970-4 DOI: https://doi.org/10.1007/s00439-011-0970-4
Battaglia A. The inv dup (15) or idic (15) syndrome (Tetrasomy 15q). Orphanet J Rare Dis 2008; 3: 30. http://dx.doi.org/10.1186/1750-1172-3-30 DOI: https://doi.org/10.1186/1750-1172-3-30
Henkhaus RS, Kim SJ, Kimonis VE, Gold JA, Dykens EM, Driscoll DJ, Butler MG. Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome. Genet Test Mol Biomarkers 2012; 16(3): 178-86. http://dx.doi.org/10.1089/gtmb.2011.0115 DOI: https://doi.org/10.1089/gtmb.2011.0115
American Speech-Language-Hearing Association (ASHA). http: //www.asha.org/
Crary MA. Developmental motor speech disorders. San Diego, CA: Singular Publishing Group, Inc. 1993.
McCauley RJ, Strand EA. Treatment of childhood apraxia of speech: clinical decision making in the use of nonspeech oral motor exercises. Semin Speech Lang 2008; 29(4): 284-93. http://dx.doi.org/10.1055/s-0028-1103392 DOI: https://doi.org/10.1055/s-0028-1103392
Lof GL, Watson MM. A nationwide survey of nonspeech oral motor exercise use: implications for evidence-based practice. Lang Speech Hear Serv Sch 2008; 39(3): 392-407. http://dx.doi.org/10.1044/0161-1461(2008/037) DOI: https://doi.org/10.1044/0161-1461(2008/037)
Square PA. Treatment approaches for developmental apraxia of speech. Clin Commun Disord 1994; 4(3): 151-61.
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