Natural progression of neurological disease in mucopolysaccharidosis type II

Joshua B Holt; Michele D Poe; Maria L Escolar

doi:10.1542/peds.2010-1274

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Natural progression of neurological disease in mucopolysaccharidosis type II

Journal article

Peer reviewed

Natural progression of neurological disease in mucopolysaccharidosis type II

Joshua B Holt, Michele D Poe and Maria L Escolar

Pediatrics (Evanston), Vol.127(5), pp.e1258-e1265

05/2011

DOI: 10.1542/peds.2010-1274

PMID: 21518713

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Abstract

Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder characterized by insufficiency of the iduronate-2-sulfatase enzyme, which results in excess heparan and dermatan sulfates within the lysosomes of various tissues and organs, including the central nervous system. The purpose of this study was to investigate the natural progression of neurologic disease in a large cohort of patients evaluated with standardized testing at a single institution. During the period of December 2002 to October 2010, patients with MPS II were referred to the Program for Neurodevelopmental Function in Rare Disorders. A retrospective review of patient data was performed, which included the use of detailed questionnaires that addressed medical history, notes from previous health care providers, and the results of a multidisciplinary evaluation that lasted 4 to 6 hours and was performed by a team of neurodevelopmental pediatricians, speech pathologists, psychologists, audiologists, psychometricians, and occupational and physical therapists. Patients were evaluated annually for management of disease progression. A total of 50 male patients with MPS II were evaluated over 152 encounters. Two distinct subgroups of children were identified. One subset of patients had normal cognitive, speech and language, and adaptive functions whereas the other showed a dramatic decline in these areas. All patients developed fine and gross motor deficits. The natural progression of MPS II manifests as 2 divergent and distinct neurologic phenotypes with similar somatic disease. Patients may have primary neural parenchymal disease with cognitive involvement or may maintain normal cognitive abilities.

Follow-Up Studies

Humans

Child, Preschool

Infant

Male

Mucopolysaccharidosis II - mortality

Nervous System Diseases - diagnosis

Nervous System Diseases - epidemiology

Time Factors

Mucopolysaccharidosis II - physiopathology

Retrospective Studies

Child

Developmental Disabilities - diagnosis

Infant, Newborn

Severity of Illness Index

Risk Assessment

Motor Skills Disorders - epidemiology

Psychometrics

Disease Progression

Mucopolysaccharidosis II - diagnosis

Developmental Disabilities - epidemiology

Cognition Disorders - diagnosis

Mental Disorders

Survival Analysis

Cognition Disorders - epidemiology

Motor Skills Disorders - diagnosis

Cohort Studies

Details

Title: Subtitle: Natural progression of neurological disease in mucopolysaccharidosis type II
Creators: Joshua B Holt - PO Box 7255, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA
Michele D Poe
Maria L Escolar
Resource Type: Journal article
Publication Details: Pediatrics (Evanston), Vol.127(5), pp.e1258-e1265
DOI: 10.1542/peds.2010-1274
PMID: 21518713
NLM abbreviation: Pediatrics
ISSN: 0031-4005
eISSN: 1098-4275
Publisher: American Academy of Pediatrics; United States
Language: English
Date published: 05/2011
Academic Unit: Stead Family Department of Pediatrics; Orthopedics and Rehabilitation
Record Identifier: 9984040001802771

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91 Times Cited - Web of Science