Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses

Molecular Genetics and Metabolism

Volumn 122, Issue , 2017, Pages 8-16

  Shapiro, Elsa G ^a,b   Escolar, Maria L ^c   Delaney, Kathleen A ^d   Mitchell, John J ^e  

^a Shapiro Neuropsychology Consultants   (United States)

^b UNIVERSITY OF MINNESOTA   (United States)

^c CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^d BIOMARIN PHARMACEUTICAL INC   (United States)

^e MONTREAL CHILDREN S HOSPITAL   (Canada)

Author keywords

Cognition disorders; Intelligence tests; Lysosomal storage diseases; Mucopolysaccharidoses; Psychology

Indexed keywords

BEHAVIOR DISORDER; CLINICAL FEATURE; CLINICAL PRACTICE; COGNITIVE DEFECT; DISABILITY; DISEASE COURSE; HUMAN; MUCOPOLYSACCHARIDOSIS; NEUROLOGIC DISEASE; PRIORITY JOURNAL; QUALITY OF LIFE; REVIEW; TREATMENT OUTCOME; BRAIN; CHILD; CHILD BEHAVIOR; CHILD DEVELOPMENT; DISEASE EXACERBATION; DOCTOR PATIENT RELATION; GENETICS; GROWTH, DEVELOPMENT AND AGING; METABOLISM; NEUROLOGIST; NEUROPSYCHOLOGICAL TEST; ORGANIZATION; PATHOLOGY; PEDIATRICIAN; PRACTICE GUIDELINE; PRESCHOOL CHILD; PSYCHOLOGY; STANDARDS;

GLYCOSAMINOGLYCAN; MELATONIN;

BRAIN; CHILD; CHILD BEHAVIOR; CHILD DEVELOPMENT; CHILD, PRESCHOOL; COGNITIVE DYSFUNCTION; CONGRESSES AS TOPIC; DISEASE PROGRESSION; GLYCOSAMINOGLYCANS; HUMANS; MELATONIN; MUCOPOLYSACCHARIDOSES; NEUROLOGISTS; NEUROPSYCHOLOGICAL TESTS; PEDIATRICIANS; PHYSICIAN-PATIENT RELATIONS; PRACTICE GUIDELINES AS TOPIC; QUALITY OF LIFE;

EID: 85034453894     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2017.09.007     Document Type: Review

References (94)

1. Neufeld, E.F., Muenzer, J., The mucopolysaccharidoses. Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D., (eds.) The Metabolic and Molecular Bases of Inherited Disease, 2001, McGraw-Hill Medical Publishing Division, New York, 3421–3452.
2. Muenzer, J., Overview of the mucopolysaccharidoses. Rheumatology (Oxford) 50:Suppl. 5 (2011), v4–v12.
3. Zafeiriou, D.I., Batzios, S.P., Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. AJNR Am. J. Neuroradiol. 34 (2013), 5–13.
4. Węgrzyn, G., Jakóbkiewicz-Banecka, J., Narajczyk, M., Wiśniewski, A., Piotrowska, E., Gabig-Cimińska, M., Kloska, A., Słomińska-Wojewódzka, M., Korzon-Burakowska, A., Węgrzyn, A., Why are behaviors of children suffering from various neuronopathic types of mucopolysaccharidoses different?. Med. Hypotheses 75 (2010), 605–609.
5. Shapiro, E.G., Jones, S.A., Escolar, M.L., Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations – neurological signs and symptoms. Mol. Genet. Metab. 122 (2017), 1–7.
6. Bax, M.C.O., Colville, G.A., Behaviour in mucopolysaccharide disorders. Arch. Dis. Child. 73 (1995), 77–81.
7. Gilkes, J.A., Heldermon, C.D., Mucopolysaccharidosis III (Sanfilippo syndrome) – disease presentation and experimental therapies. Pediatr. Endocrinol. Rev. 12:Suppl. 1 (2014), 133–140.
8. Holt, J.B., Poe, M.D., Escolar, M.L., Natural progression of neurological disease in mucopolysaccharidosis type II. Pediatrics 127 (2011), e1258–1265.
9. Shapiro, E.G., Nestrasil, I., Rudser, K., Delaney, K., Kovac, V., Ahmed, A., Yund, B., Orchard, P.J., Eisengart, J., Niklason, G.R., Raiman, J., Mamak, E., Cowan, M.J., Bailey-Olson, M., Harmatz, P., Shankar, S.P., Cagle, S., Ali, N., Steiner, R.D., Wozniak, J., Lim, K.O., Whitley, C.B., Neurocognition across the spectrum of mucopolysaccharidosis type I: age, severity, and treatment. Mol. Genet. Metab. 116 (2015), 61–68.
10. Shapiro, E.G., Lockman, L.A., Balthazor, M., Krivit, W., Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation. J. Inherit. Metab. Dis. 18 (1995), 413–429.
11. Wallace, S.P., Prutting, C.A., Gerber, S.E., Degeneration of speech, language, and hearing in a patient with mucopolysaccharidosis VII. Int. J. Pediatr. Otorhinolaryngol. 19 (1990), 97–107.
12. Martin, H.R., Poe, M.D., Reinhartsen, D., Pretzel, R.E., Roush, J., Rosenberg, A., Dusing, S.C., Escolar, M.L., Methods for assessing neurodevelopment in lysosomal storage diseases and related disorders: a multidisciplinary perspective. Acta Paediatr. 97 (2008), 69–75.
13. Food and Drug Administration, Assessing neurocognitive outcomes in inborn errors of metabolism. Proceedings of Meeting held on April, 2015, 16 http://www.fda.gov/downloads/Drugs/NewsEvents/UCM493766.pdf.
14. Shapiro, E., Bernstein, J., Adams, H.R., Barbier, A.J., Buracchio, T., Como, P., Delaney, K.A., Eichler, F., Goldsmith, J.C., Hogan, M., Kovacs, S., Mink, J.W., Odenkirchen, J., Parisi, M.A., Skrinar, A., Waisbren, S.E., Mulberg, A.E., Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions. Mol. Genet. Metab. 118 (2016), 65–69.
15. Delaney, K.A., Rudser, K.R., Yund, B.D., Whitley, C.B., Haslett, P.A.J., Shapiro, E.G., Methods of neurodevelopmental assessment in children with neurodegenerative disease: Sanfilippo syndrome. JIMD Rep. 13 (2014), 129–137.
16. Bayley, N., Bayley Scales of Infant and Toddler Development – 3rd Edition. 2006, Psychological Corporation, San Antonio.
17. Raggio, D.J., Massingale, T.W., Bass, J.D., Comparison of Vineland Adaptive Behavior Scales-Survey Form age equivalent and standard score with the Bayley Mental Development Index. Percept. Mot. Skills 79 (1994), 203–206.
18. Shapiro, E.G., Nestrasil, I., Delaney, K.A., Rudser, K., Kovac, V., Nair, N., Richard, C.W., III, P. Haslett, Whitley, C.B., A prospective natural history study of mucopolysaccharidosis type IIIA. J. Pediatr. 170 (2016), 278–287.
19. Staba, S.L., Escolar, M.L., Poe, M., Kim, Y., Martin, P.L., Szabolcs, P., Allison-Thacker, J., Wood, S., Wenger, D.A., Rubinstein, P., Hopwood, J.J., Krivit, W., Kurtzberg, J., Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N. Engl. J. Med. 350 (2004), 1960–1969.
20. Wraith, J.E., Beck, M., Lane, R., van der Ploeg, A., Shapiro, E., Xue, Y., Kakkis, E.D., Guffon, N., Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human a-L-iduronidase (laronidase). Pediatrics 120 (2007), e37–e46.
21. Poe, M.D., Chagnon, S.L., Escolar, M.L., Early treatment is associated with improved cognition in Hurler syndrome. Ann. Neurol. 76 (2014), 747–753.
22. Peters, C., Shapiro, E.G., Anderson, J., Henslee-Downey, P.J., Klemperer, M.R., Cowan, M.J., Saunders, E.F., deAlarcon, P.A., Twist, C., Nachman, J.B., Hale, G.A., Harris, R.E., Rozans, M.K., Kurtzberg, J., Grayson, G.H., Williams, T.E., Lenarsky, C., Wagner, J.E., Krivit, W., The Storage Disease Collaborative Study Group, Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. Blood 91 (1998), 2601–2608.
23. Peters, C., Balthazor, M., Shapiro, E.G., King, R.J., Kollman, C., Hegland, J.D., Henslee-Downey, J., Trigg, M.E., Cowan, M.J., Sanders, J., Bunin, N., Weinstein, H., Lenarsky, C., Falk, P., Harris, R., Bowen, T., Williams, T.E., Grayson, G.H., Warkentin, P., Sender, L., Cool, V.A., Crittenden, M., Packman, S., Kaplan, P., Lockman, L.A., Anderson, J., Krivit, W., Dusenbery, K., Wagner, J., Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood 87 (1996), 4894–4902.
24. Coletti, H.Y., Aldenhoven, M., Yelin, K., Poe, M.D., Kurtzberg, J., Escolar, M.L., Long-term functional outcomes of children with Hurler syndrome treated with unrelated umbilical cord blood transplantation. JIMD Rep. 20 (2015), 77–86.
25. Kiely, B.T., Kohler, J.L., Coletti, H.Y., Poe, M.D., Escolar, M.L., Early disease progression of Hurler syndrome. Orphanet J. Rare Dis., 12, 2017, 32.
26. Holt, J., Poe, M.D., Escolar, M.L., Early clinical markers of central nervous system involvement in mucopolysaccharidosis type II. J. Pediatr. 159 (2011), 320–326.
27. Potegal, M., Yund, B., Rudser, K., Ahmed, A., Delaney, K., Nestrasil, I., Whitley, C.B., Shapiro, E.G., Mucopolysaccharidosis type IIIA presents as a variant of Klüver-Bucy syndrome. J. Clin. Exp. Neuropsychol. 35 (2013), 608–616.
28. Valstar, M.J., Marchal, J.P., Grootenhuis, M., Colland, V., Wijburg, F.A., Cognitive development in patients with mucopolysaccharidosis type III (Sanfilippo syndrome). Orphanet J. Rare Dis., 6, 2011, 43.
29. Buhrman, D., Thakkar, K., Poe, M., Escolar, M.L., Natural history of Sanfilippo syndrome type A. J. Inherit. Metab. Dis. 37 (2014), 431–437.
30. Bian, X., Xie, H., Squires, J., Chen, C.Y., Adapting a parent-completed, socioemotional questionnaire in China: the ages & stages questionnaires: social-emotional. Infant Ment. Health J. 38 (2017), 258–266.
31. Armijo, I., Schonhaut, L., Cordero, M., Validation of the Chilean version of the ages and stages questionnaire (ASQ-CL) in community health settings. Early Hum. Dev. 91 (2015), 671–676.
32. Abo El Elella, S.S., Tawfik, M.A., Abo El Fotoh, W.M., Barseem, N.F., Screening for developmental delay in preschool-aged children using parent-completed Ages and Stages Questionnaires: additional insights into child development. Postgrad. Med. J. 93 (2017), 597–602.
33. Scarpa, M., Orchard, P.J., Schulz, A., Dickson, P.I., Haskins, M.E., Escolar, M.L., Giugliani, R., Treatment of brain disease in the mucopolysaccharidoses. Mol. Genet. Metab. 122 (2017), 24–34.
34. Shapiro, E., Klein, K., Dementia in childhood: Issues in neuropsychological assessment with application to the natural history and treatment of degenerative storage diseases. Tramontana, M.G., Hooper, S.R., (eds.) Advances in Child Neuropsychology, Volume III, 1993, Springer Verlag, New York, 119–171.
35. Yund, B., Rudser, K., Ahmed, A., Kovac, V., Nestrasil, I., Raiman, J., Mamak, E., Harmatz, P., Steiner, R., Lau, H., Vekaria, P., Wozniak, J.R., Lim, K.O., Delaney, K., Whitley, C., Shapiro, E.G., Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II. Mol. Genet. Metab. 114 (2015), 170–177.
36. Beck, M., Arn, P., Giugliani, R., Muenzer, J., Okuyama, T., Taylor, J., Fallet, S., The natural history of MPS I: global perspectives from the MPS I registry. Genet. Med. 16 (2014), 759–765.
37. Young, I.D., Harper, P.S., The natural history of the severe form of Hunter's syndrome: a study based on 52 cases. Dev. Med. Child Neurol. 25 (1983), 481–489.
38. Schwartz, I.V.D., Ribeiro, M.G., Mota, J.G., Toralles, M.B.P., Correia, P., Horovitz, D., Santos, E.S., Monlleo, I.L., Fett-Conte, A.C., Sobrinho, R.P.O., Norato, D.Y.J., Paula, A.C., Kim, C.A., Duarte, A.R., Boy, R., Valadares, E., De Michelena, M., Mabe, P., Martinhago, C.D., Pina-Neto, J.M., Kok, F., Leistner-Segal, S., Burin, M.G., Giugliani, R., A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Paediatr. Suppl. 96 (2007), 63–70.
39. Shapiro, E., Delaney, K., Haslett, P., Nestrasil, I., Whitley, C., Natural history of language and motor function in mucopolysaccharidosis IIIA. JIEMS 2 (2014), 9–10.
40. Héron, B., Mikaeloff, Y., Froissart, R., Caridade, G., Maire, I., Caillaud, C., Levade, T., Chabrol, B., Feillet, F., Ogier, H., Valayannopoulos, V., Michelakakis, H., Zafeiriou, D., Lavery, L., Wraith, E., Danos, O., Heard, J.M., Tardieu, M., Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am. J. Med. Genet. A 155A (2011), 58–68.
41. Perkins, S.C., Finegood, E.D., Swain, J.E., Poverty and language development: roles of parenting and stress. Innov. Clin. Neurosci. 10 (2013), 10–19.
42. Bjoraker, K.J., Delaney, K., Peters, C., Krivit, W., Shapiro, E.G., Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation. J. Dev. Behav. Pediatr. 27 (2006), 290–296.
43. Gollenberg, A.L., Lynch, C.D., Jackson, L.W., McGuinness, B.M., Msall, M.E., Concurrent validity of the parent-completed ages and stages questionnaires, 2nd ed. with the Bayley Scales of Infant Development II in a low-risk sample. Child Care Health Dev. 36 (2010), 485–490.
44. King, K., Shapiro, E., Rudser, K., Whitley, C.B., Emotional-behavioral functioning in individuals with MPS I: a longitudinal approach. Mol. Genet. Metab. Rep. 117 (2016), S14–124.
45. Rumsey, R.K., Rudser, K., Delaney, K., Potegal, M., Whitley, C.B., Shapiro, E., Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA. J. Pediatr. 164 (2014), 1147–1151 (e1141).
46. Shapiro, E., King, K., Ahmed, A., Rudser, K., Rumsey, R., Yund, B., Delaney, K., Nestrasil, I., Whitley, C., Potegal, M., The neurobehavioral phenotype in mucopolysaccharidosis type IIIB: an exploratory study. Mol. Genet. Metab. Rep. 6 (2016), 41–47.
47. van Widenfelt, B.M., Treffers, P.D.A., de Beurs, E., Siebelink, B.M., Koudijs, E., Translation and cross-cultural adaptation of assessment instruments used in psychological research with children and families. Clin. Child. Fam. Psychol. Rev. 8 (2005), 135–147.
48. Wild, D., Eremenco, S., Mear, I., Martin, M., Houchin, C., Gawlicki, M., Hareendran, A., Wiklund, I., Chong, L.Y., von Maltzahn, R., Cohen, L., Molsen, E., Multinational trials-recommendations on the translations required, approaches to using the same language in different countries, and the approaches to support pooling the data: the ISPOR patient-reported outcomes translation and linguistic validation good research practices task force report. Value Health 12 (2009), 430–440.
49. Trahan, L., Stuebing, K.K., Fletcher, J.M., Hiscock, M.K., The Flynn effect: a meta-analysis. Psychol. Bull. 140 (2014), 1332–1360.
50. Lowe, J.R., Erickson, S.J., Schrader, R., Duncan, A.F., Comparison of the Bayley II Mental Developmental Index and the Bayley III Cognitive Scale: are we measuring the same thing?. Acta Paediatr. 101 (2012), e55–58.
51. McKinney, A.M., Benson, J., Nascene, D.R., Eisengart, J., Salmela, M.B., Loes, D.J., Zhang, L., Patel, K., Raymond, G.V., Miller, W.P., Childhood cerebral adrenoleukodystrophy: MR perfusion measurements and their use in predicting clinical outcome after hematopoietic stem cell transplantation. AJNR Am. J. Neuroradiol. 37 (2016), 1713–1720.
52. Riva, D., Bova, S.M., Bruzzone, M.G., Neuropsychological testing may predict early progression of asymptomatic adrenoleukodystrophy. Neurology 54 (2000), 1651–1655.
53. Anderson, P.J., Burnett, A., Assessing developmental delay in early childhood - concerns with the Bayley-III scales. Clin. Neuropsychol. 31 (2017), 371–381.
54. Semrud-Clikeman, M., Romero, R.A.A., Prado, E.L., Shapiro, E.G., Bangirana, P., John, C.C., Selecting measures for the neurodevelopmental assessment of children in low- and middle-income countries. Child Neuropsychol. 23 (2017), 761–802.
55. Escolar, M.L., Jones, S.A., Shapiro, E.G., Horovitz, D.D.G., Amartino, H., Lampe, C., Practical management of behavioral problems in mucopolysaccharidoses disorders. Mol. Genet. Metab. 122 (2017), 35–40.
56. Shapiro, E.G., Nestrasil, I., Ahmed, A., Wey, A., Rudser, K., Delaney, K., Rumsey, R., Haslett, P., Whitley, C.B., Potegal, M., Quantifying behaviors of children with Sanfilippo syndrome: the Sanfilippo Behavior Rating Scale. Mol. Genet. Metab. 114 (2015), 594–598.
57. Shapiro, E.G., Rudser, K., Ahmed, A., Steiner, R.D., Delaney, K.A., Yund, B., King, K., Kunin-Batson, A., Eisengart, J., Whitley, C.B., A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II. Mol. Genet. Metab. Rep. 7 (2016), 32–39.
58. Pastores, G.M., Arn, P., Beck, M., Clarke, J.T.R., Guffon, N., Kaplan, P., Muenzer, J., Norato, D.Y.J., Shapiro, E., Thomas, J., Viskochil, D., Wraith, J.E., The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I. Mol. Genet. Metab. 91 (2007), 37–47.
59. Skrinar, A.M., Cox, G.F., Rationale and development of a functional disability outcomes measure for MPS I. Am. J. Hum. Genet., 4(Suppl. 71), 2002, 586.
60. Wiklund, I., Raluy-Callado, M., Chen, W.H., Muenzer, J., Fang, J., Whiteman, D., The Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) questionnaire: item reduction and further validation. Qual. Life Res. 23 (2014), 2457–2462.
61. Meyer, A., Kossow, K., Gal, A., Muhlhausen, C., Ullrich, K., Braulke, T., Muschol, N., Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). Pediatrics 120 (2007), e1255–e1261.
62. Aldenhoven, M., Wynn, R.F., Orchard, P.J., O'Meara, A., Veys, P., Fischer, A., Valayannopoulos, V., Neven, B., Rovelli, A., Prasad, V.K., Tolar, J., Allewelt, H., Jones, S.A., Parini, R., Renard, M., Bordon, V., Wulffraat, N.M., de Koning, T.J., Shapiro, E.G., Kurtzberg, J., Boelens, J.J., Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study. Blood 125 (2015), 2164–2172.
63. Grewal, S.S., Krivit, W., Defor, T.E., Shapiro, E.G., Orchard, P.J., Abel, S.L., Lockman, L.A., Ziegler, R.S., Dusenbery, K.E., Peters, C., Outcome of second hematopoietic cell transplantation in Hurler syndrome. Bone Marrow Transplant. 29 (2002), 491–496.
64. Whitley, C.B., Belani, K.G., Chang, P.N., Summers, C.G., Blazar, B.R., Tsai, M.Y., Latchaw, R.E., Ramsay, N.K.C., Kersey, J.H., Long-term outcome of Hurler syndrome following bone marrow transplantation. Am. J. Med. Genet. 46 (1993), 209–218.
65. Krivit, W., Peters, C., Shapiro, E.G., Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. Curr. Opin. Neurol. 12 (1999), 167–176.
66. Parini, R., Rigoldi, M., Tedesco, L., Boffi, L., Brambilla, A., Bertoletti, S., Boncimino, A., Del Longo, A., De Lorenzo, P., Gaini, R., Gallone, D., Gasperini, S., Giussani, C., Grimaldi, M., Grioni, D., Meregalli, P., Messinesi, G., Nichelli, F., Romagnoli, M., Russo, P., Sganzerla, E., Valsecchi, G., Biondi, A., Enzymatic replacement therapy for Hunter disease: up to 9 years experience with 17 patients. Mol. Genet. Metab. Rep. 3 (2015), 65–74.
67. Welling, L., Marchal, J.P., van Hasselt, P., van der Ploeg, A.T., Wijburg, F.A., Boelens, J.J., Early umbilical cord blood-derived stem cell transplantation does not prevent neurological deterioration in mucopolysaccharidosis type III. JIMD Rep 18 (2015), 63–68.
68. Jones, S.A., Breen, C., Heap, F., Rust, S., de Ruijter, J., Tump, E., Marchal, J.P., Pan, L., Qiu, Y., Chung, J.K., Nair, N., Haslett, P.A.J., Barbier, A.J., Wijburg, F.A., A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA. Mol. Genet. Metab. 118 (2016), 198–205.
69. Mullen, E., The Mullen Scales of Early Learning. 1995, American Guidance Service, Circle Pines.
70. Kunin-Batson, A.S., Shapiro, E.G., Rudser, K.D., Lavery, C.A., Bjoraker, K.J., Jones, S.A., Wynn, R.F., Vellodi, A., Tolar, J., Orchard, P.J., Wraith, J.E., Long-term cognitive and functional outcomes in children with mucopolysaccharidosis (MPS)-IH (Hurler syndrome) treated with hematopoietic cell transplantation. JIMD Rep 29 (2016), 95–102.
71. Truxal, K.V., Fu, H., McCarty, D.M., McNally, K.A., Kunkler, K.L., Zumberge, N.A., Martin, L., Aylward, S.C., Alfano, L.N., Berry, K.M., Lowes, L.P., Corridore, M., McKee, C., McBride, K.L., Flanigan, K.M., A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: implications for clinical trial design. Mol. Genet. Metab. 119 (2016), 239–248.
72. Brunet, O., Lezine, P.U.F., Le Developpement Psychologique del al Premiere Enfance Editions Scientifiques et Psychotechniques. Issy-les Moulineaux, 1951.
73. Souillet, G., Guffon, N., Maire, I., Pujol, M., Taylor, P., Sevin, F., Bleyzac, N., Mulier, C., Durin, A., Kebaili, K., Galambrun, C., Bertrand, Y., Froissart, R., Dorche, C., Gebuhrer, L., Garin, C., Berard, J., Guibaud, P., Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant. 31 (2003), 1105–1117.
74. Tellegen, P.J., Winkel, M., Wijberg-Williams, B.J., Laros, J.A., Snijders-Oomen: niet-verbale intelligentietest SON-R 2,5–7. 1996, Swets & Zeitlinger, Lisse.
75. Griffiths, R., The Griffiths Mental Development Scales from Birth to Two Years, Manual, the 1996 Revision. 1996, Association for Research in Infant and Child Development, the Test Agency, Henley.
76. Vellodi, A., Young, E.P., Cooper, A., Wraith, J.E., Winchester, B., Meaney, C., Ramaswami, U., Will, A., Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres. Arch. Dis. Child. 76 (1997), 92–99.
77. Hopwood, J.J., Vellodi, A., Scott, H.S., Morris, C.P., Litjens, T., Clements, P.R., Brooks, D.A., Cooper, A., Wraith, J.E., Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype. J. Inherit. Metab. Dis. 16 (1993), 1024–1033.
78. Malm, G., Gustafsson, B., Berglund, G., Lindström, M., Naess, K., Borgström, B., von Döbeln, U., Ringdén, O., Outcome in six children with mucopolysaccharidosis type IH, Hurler syndrome, after haematopoietic stem cell transplantation (HSCT). Acta Paediatr. 97 (2008), 1108–1112.
79. Bijarnia, S., Shaw, P., Vimpani, A., Smith, R., Pacey, V., O'Grady, H., Christodoulou, J., Sillence, D., Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome. J. Paediatr. Child Health 45 (2009), 469–472.
80. Vellodi, A., Young, E., Cooper, A., Lidchi, V., Winchester, B., Wraith, J.E., Long-term follow-up following bone marrow transplantation for Hunter disease. J. Inherit. Metab. Dis. 22 (1999), 638–648.
81. Elliot, C., The Differential Ability Scales (DAS) – 2nd Ed. 2007, The Psychological Corporation, San Antonio.
82. Fan, Z., Styner, M., Muenzer, J., Poe, M., Escolar, M., Correlation of automated volumetric analysis of brain MR imaging with cognitive impairment in a natural history study of mucopolysaccharidosis II. AJNR Am. J. Neuroradiol. 31 (2010), 1319–1323.
83. Thorndike, R., Hagon, E., Sattler, J., Stanford-Binet Intelligence Scale – 4th Ed. 1986, Riverside Publishing Company, Itasca.
84. Kaufman, A.S., Kaufman, N.L., Manual for the Kaufman Assessment Battery for Children – 2nd Ed. 2004, Comprehensive form. American Guidance Service, Circle Pines.
85. Roid, G., Miller, L., Leiter International Performance Scale - Revised. 1997, Stoelting Company, Wood Dale.
86. Wechsler, D., Wechsler Preschool and Primary Scale of Intelligence 3rd Ed. 2002, The Psychological Corporation, San Antonio.
87. Wechsler, D., Wechsler Intelligence Scale for Children 4th Ed. 2003, The Psychological Corporation, San Antonio.
88. Ahmed, A., Shapiro, E., Rudser, K., Kunin-Batson, A., King, K., Whitley, C.B., Association of somatic burden of disease with age and neuropsychological measures in attenuated mucopolysaccharidosis types I, II and VI. Mol. Genet. Metab. Rep. 7 (2016), 27–31.
89. Shapiro, E., Guler, O.E., Rudser, K., Delaney, K., Bjoraker, K., Whitley, C., Tolar, J., Orchard, P., Provenzale, J., Thomas, K., An exploratory study of brain function and structure in mucopolysaccharidosis type I: long term observations following hematopoietic cell transplantation (HCT). Mol. Genet. Metab. 107 (2012), 116–121.
90. Ahmed, A., Whitley, C.B., Cooksley, R., Rudser, K., Cagle, S., Ali, N., Delaney, K., Yund, B., Shapiro, E., Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-L-iduronidase gene in Hurler-Scheie syndrome. Mol. Genet. Metab. 111 (2014), 123–127.
91. Reynolds, C.R., Kamphaus, R.W., Behavior assessment system for children. 2nd ed., 2004, American Guidance Service, Circle Pines.
92. Pitt, C., Lavery, C., Wager, N., Psychosocial outcomes of bone marrow transplant for individuals affected by mucopolysaccharidosis I Hurler disease: patient social competency. Child Care Health Dev. 35 (2009), 271–280.
93. Achenbach, T.M., Manual for the Child Behavior Checklist/4–18 and 1991 Profile. 1991, University of Vermont, Burlington.
94. Fombonne, E., The Child Behaviour Checklist and the Rutter Parental Questionnaire: a comparison between two screening instruments. Psychol. Med. 19 (1989), 777–785.