TY - JOUR
T1 - Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome).
AU - Valstar, Marlies J.
AU - Marchal, Jan Pieter
AU - Grootenhuis, Martha
AU - Colland, Vivian
AU - Wijburg, Frits A.
N1 - Funding Information:
We thank the patients and their families and care-takers for participating in this study. We also thank Bregje Houtzager for BSID-II training of JPM. This study was funded by a grant from the ‘Stichting Metakids’, Amsterdam, the Netherlands 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.
PY - 2011
Y1 - 2011
N2 - 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. We aimed to assess cognitive development in all 73 living patients with MPS III in the Netherlands. 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. 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.
AB - 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. We aimed to assess cognitive development in all 73 living patients with MPS III in the Netherlands. 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. 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.
UR - http://www.scopus.com/inward/record.url?scp=79959236951&partnerID=8YFLogxK
U2 - 10.1186/1750-1172-6-43
DO - 10.1186/1750-1172-6-43
M3 - Article
C2 - 21689409
AN - SCOPUS:79959236951
SN - 1750-1172
VL - 6
SP - 43
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
ER -