Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?

Ute Moog1,2, Ingrid van Mierlo3, H. M. J. van Schrojenstein Lantman‐de Valk4, L. J. M. Spaapen5, Marian A. Maaskant6, Leopold Curfs7
1Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 366, 69120, Heidelberg, Germany
2Ute Moog performed the present work as senior clinical geneticist at the Department of Clinical Genetics, University Hospital Maastricht and Research Institute Growth & Development (GROW), Maastricht University, Maastricht, The Netherlands. Her clinical and research interests include the etiology of mental retardation and neurocutaneous disorders. She currently works at the Institute of Human Genetics, Heidelberg University, Heidelberg, Germany, where she is vice-head of Clinical Genetics.
3Ingrid van Mierlo is a medical student at Maastricht University, Maastricht. As part of the last year of her studies, she spent a research period at the Department of Clinical Genetics and worked on Sanfilippo B syndrome.
4Henny M.J. van Schrojenstein Lantman-de Valk is a medical specialist for people with intellectual disability (ID) at the service provider "Pepijn en Paulus," Echt. She works as an assistant professor at the Department of General Practice, Maastricht University, and the Governor Kremers Centre of the Maastricht University. She combines research and practice as physician for people with ID and is internationally active as vice president of the International Association for the Scientific Study of Intellectual Disabilities (IASSID).
5Leo Spaapen is a senior scientist at the Department of Biochemical Genetics of the University Hospital Maastricht. His work covers the area of selective screening on Inborn Errors of Metabolism. His research comprises a.o. disorders of glycosylation.
6Marian A. Maaskant is a health scientist and registered as epidemiologist. She currently works as research co-ordinator at "Pepijn and Paulus" (service provider for people with ID) and as senior researcher at Maastricht University/Governor Kremers Center. Her main topics of interest in ID are: ageing, epidemiology, demography, lifestyles.
7Leopold M.G. Curfs is a professor of Learning Disabilities, Department of Clinical Genetics, University Hospital Maastricht and Director of the Governor Kremers Centre, Maastricht University.

Tóm tắt

AbstractSanfilippo type B is an autosomal recessive mucopolysaccharidosis (MPS IIIB) caused by deficiency of N‐acetyl‐α‐D‐glucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulfate. It is characterized by neurologic degeneration, behavioral problems, and mental decline. Somatic features are relatively mild and patients with this disorder can reach late adulthood. It is the most common subtype of MPS in the Netherlands and probably underdiagnosed in adult persons with mental retardation (MR). In order to increase knowledge on the adult phenotype and natural history in Sanfilippo type B, we present the clinical data of 20 patients with this disorder. Sixteen of them were followed for one to three decades. Six died between 28 and 69 years of age, mainly from pneumonia and cachexia; the surviving patients were 18–63 years old. Apart from the youngest, they had lost mobility at 36–68 years. Most had developed physical problems, in particular in the 4th–6th decade of life: cardiac disease (cardiomyopathy, atrial fibrillations), arthritis, skin blistering, swallowing difficulties requiring feeding by a gastrostomy tube, and seizures. The course of the disease was dominated in most of them by challenging behavioral problems with restlessness, extreme screaming and hitting, difficult to prevent or to treat pharmaceutically. Even in absence of knowledge of the history of an elderly patient with MR, the presence of behavioral problems should prompt metabolic investigation for MPS. © 2007 Wiley‐Liss, Inc.

Từ khóa


Tài liệu tham khảo

10.1016/j.survophthal.2005.11.007

10.1007/s10545-005-0093-y

Bunge S, 1999, Mucopolysaccharidosis type IIIB (Sanfilippo B): Identification of 18 novel alpha‐N‐acetylglucosaminidase gene mutations, J Med Genet, 36, 28

10.1007/s10038-005-0258-4

10.1136/adc.69.3.403

10.1111/j.1469-8749.1996.tb12114.x

Curry CJ, 2002, Rational evaluation of the adolescent with mental retardation, Adolesc Med, 13, 331

10.1002/(SICI)1096-8628(19971112)72:4<468::AID-AJMG18>3.0.CO;2-P

10.1034/j.1399-0004.2002.620512.x

10.1136/adc.2004.065482

10.1089/scd.2005.14.384

Hoefnagel CWM, 1989, Oud en Zwakzinnig. Mentale Retardatie Vanuit Psychologische Optiek

10.1136/jmg.39.2.e3

Moog U, 1998, De ziekte van Sanfilippo type B: Ondergediagnosticeerd bij verstandelijk gehandicapten, NTZ, 3, 161

10.1038/sj.ejhg.5201623

Van Buggenhout GJCM, 2001, Metabolic studies in older mentally retarded patients: Significance of metabolic testing and correlation with the clinical phenotype, Genet Couns, 12, 1

10.1111/j.1399-0004.1976.tb00049.x

10.1111/j.1399-0004.1981.tb01821.x

10.1002/ajmg.1320280118

10.1093/hmg/5.6.771

10.1038/sj.ejhg.5200242

10.1002/humu.1189

10.1016/S0925-4439(00)00066-1

10.1086/301682

10.1016/j.ymgme.2004.06.004