Language and speech function in children with infantile Pompe disease

Journal of Pediatric Neurology

Volumn 7, Issue 2, 2009, Pages 147-156

  Muller, Carolyn W ^a   Jones, Harrison N ^a   O'Grady, Gwendolyn ^a   Suárez, Habakkuk A ^a   Heller, James H ^a   Kishnani, Priya S ^a  

^a DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Articulation; Enzyme replacement therapy; Glycogen storage disease type II; Hypernasality; Language; Myozyme ; Natural history; Pompe disease; Speech

Indexed keywords

RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE;

ARTICLE; CHILD; CLINICAL ARTICLE; DISEASE COURSE; ENZYME REPLACEMENT; FEMALE; GLYCOGEN STORAGE DISEASE TYPE 2; HIGH RISK PATIENT; HUMAN; INFANT; LANGUAGE ABILITY; LANGUAGE DEVELOPMENT; LANGUAGE DISABILITY; LIFESPAN; MALE; PERCEPTION DEAFNESS; RETROSPECTIVE STUDY; SPEECH ANALYSIS; SPEECH ARTICULATION; SPEECH DISORDER; TERTIARY HEALTH CARE;

EID: 65449120324     PISSN: 13042580     EISSN: 18759041     Source Type: Journal    
DOI: 10.3233/JPN-2009-0291     Document Type: Article

References (37)

1. R. Hirschhorn and A.J. Reuser, Glycogen storage disease type II: Acid alpha-glucosidase (acid maltase deficiency), in: The Metabolic and Molecular Bases of Inherited Disease, C.R. Scriver, A. Beaudet, W.S. Sly, D. Valle, eds, New York: McGraw Hill, 2001, pp. 3389-3420.
2. P.S. Kishnani and R.R. Howell, Pompe disease in infants and children, J Pediatr 144 (2004), 35-43.
3. P.S. Kishnani, W.L. Hwu, H. Mandel, M. Nicolino, F. Yong and D. Corzo, A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease, J Pediatr 148 (2006), 671-676.
4. D.D. Koeberl, P.S. Kishnani and Y.T. Chen, Glycogen storage disease Types I and II: Treatment updates, J Inherit Metab Dis 30 (2007), 159-164.
5. H.M. Van den Hout, W. Hop, O.P. van Diggelen et al., The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature, Pediatrics 112 (2003), 332-340.
6. A. Amalfitano, A.R. Bengur, R.P. Morse et al., Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial, Genet Med 3 (2001), 132-138.
7. P.S. Kishnani, M. Nicolino, T. Voit et al., Chinese hamster ovary cell-derived recombinant human acid a-glucosidase in infantile-onset Pompe disease, J Pediatr 149 (2006), 89-97.
8. P.S. Kishnani, D. Corzo, M. Nicolino et al., Recombinant human acid a-glucosidase: Major clinical benefits in infantile-onset Pompe disease, Neurology 68 (2007), 99-109.
9. L. Klinge, V. Straub, U. Neudorf and T. Voit, Enzyme replacement therapy in classical infantile Pompe disease: Results of a 10-month follow-up study, Neuropediatrics 36 (2005), 6-11.
10. L. Klinge, V. Straub, U. Neudorf et al., Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: Results of a phase II clinical trial, Neuromuscul Disord 15 (2005), 24-31.
11. M. Rossi, G. Parenti, R. Della Casa et al., Long-term enzyme replacement therapy for Pompe disease with recombinant human alpha-glucosidase derived from Chinese hamster ovary cells, J Child Neurol 22 (2007), 565-573.
12. D.H. Van Den, A.J. Reuser, A.G. Vulto, M.C. Loonen, A. Cromme-Dijkhuis and A.T. Van der Ploeg, Recombinant human alpha-glucosidase from rabbit mild in Pompe patients, Lancet 356 (2000), 397-398.
13. J.M. Van den Hout, J.H. Kamphoven, L.P.Winkle et al., Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk, Pediatrics 113 (2004), 448-457.
14. J.M. Van den Hout, A.J. Reuser, J.B. Klerk, W.F. Arts, J.A. Smeitink and A.T. Van der Ploeg, Enzyme therapy for Pompe disease with recombinant human alpha-glucosidase from rabbit milk, J Inherit Metab Dis 24 (2001), 266-274.
15. J.R. Duffy, Motor Speech Disorders: Substrates, Differential Diagnosis, and Management, (2nd ed.), St. Louis, MO: Elsevier, 2005.
16. R. Netsell, Speech physiology, in: Normal Aspects of Speech, Hearing, and Language, F.D. Minifie, T.J. Hixon, F. Williams, eds, Englewood Cliffs, NJ: Prentice-Hall, 1973, pp. 211-234.
17. H.N. Jones, N.J. Donovan and J.C. Rosenbek, Speech and swallowing disorders in patients with movement disorders, in: A Practical Approach to Movement Disorders: Diagnosis and Medical and Surgical Management, H.H. Fernandez, R.L. Rodriguez, F.M. Skidmore, K.D. Foote and M.S. Okun, eds, New York: Demos Medical Publishing, 2007, pp. 205-236.
18. I.L. Zimmerman, V.G. Steiner and R.E. Pond, Preschool Language Scale (4th ed.), San Antonio: PsychCorp, 2002.
19. E. Carrow-Woolfolk, Oral and Written Language Scales, Bloomington, MN, Pearson, 1995.
20. R. Goldman and M. Fristoe, Goldman Fristoe 2 Test of Articulation, Minneapolis, MN, Pearson, 2000.
21. T. Kikuchi, H.W. Yang, M. Pennybacker et al., Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltase-deficient quail, J Clin Invest 101 (1998), 827-833.
22. Myozyme® package insert, available from: http://www.myozyme.com/.
23. Y.H. Chien, N.C. Lee, S.F. Peng and W.L. Hwu, Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy, Pediatr Res 60 (2006), 349-352.
24. J.M. Davis, J. Elfenbeim, R. Schum and R.A. Bentler, Effects of mild and moderate hearing impairments on language, educational, and psychosocial behavior of children, J Speech Hear Disord 51 (1986), 53-62.
25. S. Chaudhari, M.R. Bhalerao, A. Chitale, A.N. Pandit and U. Nene, Pune low birth weight study- a six year follow up, Indian Pediatr 36 (1999), 669-676.
26. B.E. Fleisher, D. Baum, G. Brudos et al., Infant heart transplantation at Stanford: Growth and neurodevelopmental outcome, Pediatrics 109 (2002), 1-7.
27. D. Holditch-Davis, S. Docherty, M.S. Miles, M. Burchinal, Developmental outcomes of infants with bronchopulmonary dysplasia: Comparison with other medically fragile infants, Res Nurs Health 24 (2001), 181-193.
28. B.B. Lubker, K.Y. Bernier and A.D. Vizoso, Chronic illnesses of childhood and the changing epidemiology of language-learning disorders, Top Lang Disorders 20 (1999), 59-75.
29. M.E. McGraw and K. Haka-Ikse, Neurologic-developmental sequelae of chronic renal failure in infancy, J Pediatr 106 (1985), 579-583.
30. M.Z. Wamboldt and F.S. Wamboldt, Role of the family in the onset and outcome of childhood disorders: Selected research findings, J Am Acad Child Adolesc Psychiatry 39 (2000), 1212-1219.
31. K.M. Yorkston, D.R. Beukelman, E.A. Strand and K.R. Bell, Management of Motor Speech Disorders in Children and Adults, (2nd ed.), Austin, TX: Pro-Ed, 1999.
32. F.L. Darley, A.E. Aronson and J.R. Brown, Differential diagnostic patterns of dysarthria, J Speech Hear Res 12 (1969), 249-269.
33. F.L. Darley, A.E. Aronson and J.R. Brown, Cluster of deviant speech dimensions in the dysarthrias, J Speech Hear Res 12 (1969), 462-296.
34. F.L. Darley, A.E. Aronson and J.R. Brown, Motor Speech Disorders, Philadelphia: WB Saunders, 1975.
35. Y.T. Teng, W.J. Su, J.W. Hou and S.F. Huang, Infantile-onset glycogen storage disease type II (Pompe disease): Report of a case with genetic diagnosis and pathological findings, Chang Gung Med J 27 (2004), 379-384.
36. R.D. Kent, The uniqueness of speech among motor systems, Clin Linguist Phon 18 (2004), 495-505.
37. P.S. Kishnani, R.D. Steiner, D. Bali et al., Pompe disease diagnosis and management guidelines, Genet Med 8 (2006), 1-22.