Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)

Orphanet Journal of Rare Diseases - 2011
Marlies J. Valstar1, Jan Pieter Marchal2, Martha A. Grootenhuis2, Vivian T. Colland2, Frits A. Wijburg1
1Department of Pediatrics and Amsterdam Lysosome Center 'Sphinx', Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
2Psychosocial Department, Emma Children’s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands

Tóm tắt

Abstract Background Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder caused by a deficiency of one of the enzymes involved in the degradation of heparan sulfate. MPS III is characterized by progressive mental deterioration resulting in severe dementia. A number of potentially disease-modifying therapies are studied. As preservation of cognitive function is the ultimate goal of treatment, assessment of cognitive development will be essential in order to evaluate treatment efficacy. However, no large scale studies on cognitive levels in MPS III patients, using formal psychometric tests, have been reported. Methods We aimed to assess cognitive development in all 73 living patients with MPS III in the Netherlands. Results Cognitive development could be assessed in 69 patients. In 39 of them developmental level was estimated > 3 months and formal psychometric testing was attempted. A remarkable variation in the intellectual disability was detected. Conclusions Despite special challenges encountered, testing failed in only three patients. The observed broad variation in intellectual disability, should be taken into account when designing therapeutic trials.

Từ khóa


Tài liệu tham khảo

Cleary MA, Wraith JE: Management of mucopolysaccharidosis type III. Arch Dis Child. 1993, 69: 403-406. 10.1136/adc.69.3.403.

Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, van Diggelen OP, et al: Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab. 2007.

Valstar MJ, Neijs S, Bruggenwirth HT, Olmer R, Ruijter GJ, Wevers RA, et al: Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. Ann Neurol. 2010, 68: 876-887. 10.1002/ana.22092.

Valstar MJ, Bruggenwirth HT, Olmer R, Wevers RA, Verheijen FW, Poorthuis BJ, et al: Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. J Inherit Metab Dis. 2010, 33: 759-767. 10.1007/s10545-010-9199-y.

Malm G, Mansson JE: Mucopolysaccharidosis type III (Sanfilippo disease) in Sweden: clinical presentation of 22 children diagnosed during a 30-year period. Acta Paediatr. 2010.

Meyer A, Kossow K, Gal A, Muhlhausen C, Ullrich K, Braulke T, et al: Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). Pediatrics. 2007, 120: e1255-e1261. 10.1542/peds.2007-0282.

Meyer A, Kossow K, Gal A, Steglich C, Muhlhausen C, Ullrich K, et al: The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). Hum Mutat. 2008, 29: 770.

Verhoeven WM, Csepan R, Marcelis CL, Lefeber DJ, Egger JI, Tuinier S: Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia. Acta Psychiatr Scand. 2009.

Nidiffer FD, Kelly TE: Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: an epidemiological study. J Ment Defic Res. 1983, 27 (Pt 3): 185-203.

Berger-Plantinga EG, Vanneste JA, Groener JE, van Schooneveld MJ: Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters. J Neurol. 2004, 251: 479-481. 10.1007/s00415-004-0368-5.

Moog U, van M, van Schrojenstein Lantman-de Valk HM, Spaapen L, Maaskant MA, Curfs LM: Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?. Am J Med Genet C Semin Med Genet. 2007, 145C: 293-301. 10.1002/ajmg.c.30142.

Hemsley KM, King B, Hopwood JJ: Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice. Mol Genet Metab. 2007, 90: 313-328. 10.1016/j.ymgme.2006.10.005.

Malinowska M, Wilkinson FL, Langford-Smith KJ, Langford-Smith A, Brown JR, Crawford BE et al: Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease. PLoS One. 2010, 5: e14192. 10.1371/journal.pone.0014192.

Ponder KP, Haskins ME: Gene therapy for mucopolysaccharidosis. Expert Opin Biol Ther. 2007, 7: 1333-1345. 10.1517/14712598.7.9.1333.

Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van WS et al: The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999, 105: 151-156.

Van der Meulen BF, Ruiter SAJ, Lutje Spelberg HC, Smrkovsky M: Handleiding BSID-II NL. Lisse: Swets Test Publishers; 2002.

Tellegen PJ, Winkel M, Wijberg-Williams BJ, Laros JA, Snijders-Oomen : niet-verbale intelligentietest SON-R 2,5-7. Lisse: Swets & Zeitlinger. 1996.

Kort W, Schittekatte M, Dekker PH, Verhaeghe P, Compaan EL, Bosmans M, et al: WISC-III NL Handleiding en Verantwoording. London: The Psychological Corporation; 2005.

de Bildt A, Kraijer D, Sytema S, Minderaa R: The psychometric properties of the Vineland Adaptive Behavior Scales in children and adolescents with mental retardation. J Autism Dev Disord. 2005, 35: 53-62. 10.1007/s10803-004-1033-7.

Piotrowska E, Jakobkiewicz-Banecka J, Baranska S, Tylki-Szymanska A, Czartoryska B, Wegrzyn A et al: Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses. Eur J Hum Genet. 2006, 14: 846-852. 10.1038/sj.ejhg.5201623.

Shapiro EG, Lockman LA, Balthazor M, Krivit W: Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation. J Inherit Metab Dis. 1995, 18: 413-429. 10.1007/BF00710053.

Haxby JV: Neuropsychological evaluation of adults with Down's syndrome: patterns of selective impairment in non-demented old adults. J Ment Defic Res. 1989, 33 (Pt 3): 193-210.

Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA: Sanfilippo syndrome: A mini-review. J Inherit Metab Dis. 2008.

Manzi B, Loizzo AL, Giana G, Curatolo P: Autism and metabolic diseases. J Child Neurol. 2008, 23: 307-314. 10.1177/0883073807308698.

de Ruijter J, Valstar MJ, Wijburg FA: Mucopolysaccharidosis Type III (Sanfilippo Syndrome): Emerging Treatment Strategies. Curr Pharm Biotechnol. 2011, 12 (6): 923-30. 10.2174/138920111795542651.

Andermann A, Blancquaert I, Beauchamp S, Déry V: Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. 2008, Bull World Health Organ, 86 (4): 317-9.

Thông tin
Thông tin xuất bản

Orphanet Journal of Rare Diseases

Thông tin tác giả