Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome). 2011

Marlies J Valstar, and Jan Pieter Marchal, and Martha Grootenhuis, and Vivian Colland, and Frits A Wijburg
Department of Pediatrics and Amsterdam Lysosome Center Sphinx, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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.

UI MeSH Term Description Entries
D009084 Mucopolysaccharidosis III Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme. Polydystrophic Oligophrenia,Sanfilippo's Syndrome,Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency,Heparan Sulfate Sulfatase Deficiency,MPS 3 A,MPS 3 B,MPS 3 C,MPS 3 D,MPS III A,MPS III B,MPS III C,MPS III D,MPS IIIA,MPS IIIB,MPS IIIC,MPS IIID,MPS3A,MPS3B,MPS3C,Mucopolysaccharidosis 3,Mucopolysaccharidosis Type 3 A,Mucopolysaccharidosis Type 3 A Sanfilippo Syndrome,Mucopolysaccharidosis Type 3 B,Mucopolysaccharidosis Type 3 C,Mucopolysaccharidosis Type 3 D,Mucopolysaccharidosis Type IIIA,Mucopolysaccharidosis Type IIIB,Mucopolysaccharidosis Type IIIC,Mucopolysaccharidosis Type IIID,N-Acetyl-alpha-D-Glucosaminidase Deficiency,N-Acetylglucosamine-6-Sulfatase Deficiency,N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency,NAGLU Deficiency,San Filippo's Syndrome,Sanfilippo Syndrome,Sanfilippo Syndrome A,Sanfilippo Syndrome B,Sanfilippo Syndrome C,Sanfilippo Syndrome D,Sulfamidase Deficiency,Acetyl CoA:alpha Glucosaminide N Acetyltransferase Deficiency,Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiencies,Deficiencies, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase,Deficiencies, N-Acetyl-alpha-D-Glucosaminidase,Deficiencies, N-Acetylglucosamine-6-Sulfatase,Deficiencies, N-Acetylglucosamine-6-Sulfate Sulfatase,Deficiencies, NAGLU,Deficiencies, Sulfamidase,Deficiency, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase,Deficiency, N-Acetyl-alpha-D-Glucosaminidase,Deficiency, N-Acetylglucosamine-6-Sulfatase,Deficiency, N-Acetylglucosamine-6-Sulfate Sulfatase,Deficiency, NAGLU,Deficiency, Sulfamidase,MPS IIIDs,Mucopolysaccharidosis IIIs,Mucopolysaccharidosis Type IIIAs,Mucopolysaccharidosis Type IIIBs,Mucopolysaccharidosis Type IIICs,Mucopolysaccharidosis Type IIIDs,N Acetyl alpha D Glucosaminidase Deficiency,N Acetylglucosamine 6 Sulfatase Deficiency,N Acetylglucosamine 6 Sulfate Sulfatase Deficiency,N-Acetyl-alpha-D-Glucosaminidase Deficiencies,N-Acetylglucosamine-6-Sulfatase Deficiencies,N-Acetylglucosamine-6-Sulfate Sulfatase Deficiencies,N-Acetyltransferase Deficiencies, Acetyl-CoA:alpha-Glucosaminide,N-Acetyltransferase Deficiency, Acetyl-CoA:alpha-Glucosaminide,NAGLU Deficiencies,Oligophrenia, Polydystrophic,Oligophrenias, Polydystrophic,Polydystrophic Oligophrenias,San Filippo Syndrome,San Filippos Syndrome,Sanfilippo Syndromes,Sanfilippos Syndrome,Sulfamidase Deficiencies,Sulfatase Deficiencies, N-Acetylglucosamine-6-Sulfate,Sulfatase Deficiency, N-Acetylglucosamine-6-Sulfate,Syndrome, San Filippo's,Syndrome, Sanfilippo,Syndrome, Sanfilippo's,Syndromes, Sanfilippo
D003071 Cognition Intellectual or mental process whereby an organism obtains knowledge. Cognitive Function,Cognitions,Cognitive Functions,Function, Cognitive,Functions, Cognitive
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000375 Aging The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time. Senescence,Aging, Biological,Biological Aging

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