A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II

Molecular Genetics and Metabolism Reports

Volumn 7, Issue , 2016, Pages 32-39

  Shapiro, Elsa G ^a   Rudser, Kyle ^b   Ahmed, Alia ^a   Steiner, Robert D ^c   Delaney, Kathleen A ^a   Yund, Brianna ^a   King, Kelly ^a   Kunin Batson, Alicia ^d   Eisengart, Julie ^a   Whitley, Chester B ^a  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MINNESOTA   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d HEALTHPARTNERS INSTITUTE   (United States)

Author keywords

Adaptive functions; Attenuated mucopolysaccharidosis type II; Behavioral outcomes; Quality of life

Indexed keywords

ADAPTIVE BEHAVIOR; AGE; ANXIETY; ARTICLE; CHILD; CLINICAL ARTICLE; DEPRESSION; HEARING IMPAIRMENT; HUMAN; HUMAN RELATION; HUNTER SYNDROME; HYPERACTIVITY; INTELLIGENCE QUOTIENT; JOINT CONTRACTURE; LONGITUDINAL STUDY; PHYSICAL DISABILITY; PSYCHOLOGICAL ADJUSTMENT; PSYCHOSOMATIC DISORDER; QUALITY OF LIFE; SELF ESTEEM; SELF REPORT; SHORT STATURE; SOCIAL WELFARE; WITHDRAWAL SYNDROME;

EID: 84962385143     PISSN: None     EISSN: 22144269     Source Type: Journal    
DOI: 10.1016/j.ymgmr.2016.03.005     Document Type: Article

References (41)

1. R. Martin, M. Beck, C. Eng, and et al. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome) Pediatrics 121 2 2008 377 386
2. J. Muenzer, M. Beck, C.M. Eng, and et al. Multidisciplinary management of Hunter syndrome Pediatrics 124 2009 e1228 e1239
3. I. Young, P. Harper, R. Newcombe, and I. Archer A clinical and genetic study of Hunter's syndrome. 2 differences between the mild and severe forms J. Med. Genet. 19 6 1982 408 411
4. B. Yund, K. Rudser, A. Ahmed, and et al. Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II Mol. Genet. Metab. 114 2 2015 170 177
5. E.M. Cross, and D.J. Hare Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders J. Inherit. Metab. Dis. 36 2013 189 200
6. J. Marucha, A. Jurecka, M. Syczewska, A. Rózdzyńska-Światkowska, and A. Tylki-Szymańska Restricted joint range of motion in patients with MPS II: correlation with height, age and functional status Acta Paediatr. 101 4 2012 e183 e188
7. M. Scarpa, Z. Almássy, M. Beck, and et al. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease Orphanet J. Rare Dis. 6 1 2011 72
8. G. Schulze-Frenking, S.A. Jones, J. Roberts, M. Beck, and J.E. Wraith Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II J. Inherit. Metab. Dis. 34 1 2011 203 208
9. A. Hollingshead Two Factor Index of Social Position 1957 Hollingshead New Haven
10. D. Wechsler Wechsler Abbreviated Scale of Intelligence 1999 Psychological Corporation San Antonio TX
11. D.H. Saklofske, G. Caravan, and C. Schwartz Concurrent validity of the Wechsler Abbreviated Scale of Intelligence (WASI) with a sample of Canadian children Can. J. Sch. Psychol. 16 1 2000 87 94
12. A. Ahmed, K. Rudser, A. Kunin-Batson, K. Delaney, C.B. Whitley, and E. Shapiro Mucopolysaccharidosis (MPS) specific physical symptom score: development, reliability and validity J. Inherit. Metab. Dis. Rep. 2015 10.1007/8904-2015-485
13. S.S. Sparrow, D.V. Cicchetti, and D.A. Balla Vineland Adaptive Behavior Scales second ed. 2005 Psychological Corporation San Antonio, TX
14. J.M. Landgraf, L. Abetz, and J.E. Ware Child Health Questionnaire (CHQ): A User's Manual 1996 Health Institute, New England Medical Center Boston
15. C.R. Reynolds, and R.W. Kamphaus Behavior Assessment System for Children second ed. 2004 American Guidance Service Circle Pines, MN
16. P.A. Harris, R. Taylor, R. Thielke, J. Payne, N. Gonzalez, and J.G. Conde Research electronic data capture (REDCap) - a metadata-driven methodology and workflow process for providing translational research informatics support J. Biomed. Inform. 42 2 2009 377 381
17. R Core Team (2014). R: A Language and Environment for Statistical Computing. R Foundation for Statistical Computing, Vienna, Austria. URL http://www.R-project.org /.
18. M.C. Bax, and G.A. Colville Behaviour in mucopolysaccharide disorders Arch. Dis. Child. 73 1 1995 77 81
19. J.E. Wraith, M. Scarpa, M. Beck, and et al. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy Eur. J. Pediatr. 167 2008 267 277
20. J.B. Holt, M.D. Poe, and M.L. Escolar Natural progression of neurological disease in mucopolysaccharidosis type II Pediatrics 127 5 2011 e1258 e1265
21. S. Shimoda-Matsubayashi, Y. Kuru, H. Sumie, and et al. MRI findings in the mild type of mucopolysaccharidosis II (Hunter's syndrome) Neuroradiol. 32 4 1990 328 330
22. M.G. Matheus, M. Castillo, J.K. Smith, D. Armao, D. Towle, and J. Muenzer Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation Neuroradiol. 13 2004 666 672
23. L. Vedolin, I.V. Schwartz, M. Komlos, and et al. Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II Am. J. Neuroradiol. 28 6 2007 1029 1033
24. Z. Fan, M. Styner, J. Muenzer, M. Poe, and M. Escolar Correlation of automated volumetric analysis of brain MR imaging with cognitive impairment in a natural history study of mucopolysaccharidosis II Am. J. Neuroradiol. 31 7 2010 1319 1323
25. R. Manara, E. Priante, M. Grimaldi, and et al. Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy J. Inherit. Metab. Dis. 34 3 2011 763 780
26. Y.S. Cho, J.H. Kim, T.W. Kim, S.C. Chung, S.A. Chang, and D.K. Jin Otologic manifestations of Hunter syndrome and their relationship with speech development Audiol. Neurootol. 13 3 2008 206 212
27. J. Nelson, and D. Carson Pituitary function studies in a case of mild Hunter's syndrome (MPS IIB) J. Med. Genet. 26 11 1989 731 732
28. A. Ahmed, E.G. Shapiro, K. Rudser, A. Kunin-Batson, C. B. Whitley. The association of somatic burden of disease with age and neuropsychological measures in MPS I, II and VI, (manuscript submitted for publication).
29. T. Kato, Z. Kato, I. Kuratsubo, and et al. Evaluation of ADL in patients with Hunter disease using FIM score Brain Dev. 29 5 2007 298 305
30. E. Shapiro, I. Nestrasil, K. Rudser, and et al. Neurocognition across the spectrum of mucopolysaccharidosis type I: age, severity, and treatment Mol. Genet. Metab. 116 1 2015 61 68
31. I.V.D. Schwartz, M.G. Ribeiro, J.G. Mota, and et al. A clinical study of 77 patients with mucopolysaccharidosis type II Acta Paediatr. 455 Suppl. 96 2007 63 70
32. M. Raluy-Callado, W.-H. Chen, D.A. Whiteman, J. Fang, and I. Wiklund The impact of Hunter syndrome (mucopolysaccharidosis type II) on health-related quality of life Orphanet J. Rare Dis. 8 1 2013 101
33. M. Needham, W. Packman, N. Quinn, and et al. Health-related quality of life in patients with MPS II J. Genet. Couns. 24 2015 635 644
34. M. Needham, W. Packman, M. Rappoport, and et al. MPS II: adaptive behavior of patients and impact on the family system J. Genet. Couns. 23 2014 330 338
35. A. Ahmed, C.B. Whitley, R. Cooksley, and et al. Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-l-iduronidase gene in Hurler-Scheie syndrome Mol. Genet. Metab. 111 2 2014 123 127
36. M.H. Bluechardt, J. Wiener, and R.J. Shephard Exercise programmes in the treatment of children with learning disabilities Sports Med. 19 1 1995 55 72
37. E. Maccoby Gender and relationships: a developmental account Am. Psychol. 45 4 1990 513 520
38. B.D. Kirkcaldy, R.J. Shephard, and R.G. Siefen The relationship between physical activity and self-image and problem behaviour among adolescents Soc. Psychiatry Psychiatr. Epidemiol. 37 11 2002 544 550
39. R.J. Shephard, H. Lavallée, and G. Larivière Competitive selection among age-class ice-hockey players Brit J. Sports. Med. 12 1 1978 11 13
40. B.D. Ulrich Perceptions of physical competence, motor competence, and participation in organized sport: their interrelationships in young children Res. Quarterly. 58 1987 57 67
41. G.P. Hanley, B.A. Iwata, and B.E. McCord Functional analysis of problem behaviour, a review J. Appl. Behav. Anal. 36 2003 147 185