PMID- 21518713
OWN - NLM
STAT- MEDLINE
DCOM- 20110711
LR  - 20110502
IS  - 1098-4275 (Electronic)
IS  - 0031-4005 (Linking)
VI  - 127
IP  - 5
DP  - 2011 May
TI  - Natural progression of neurological disease in mucopolysaccharidosis type II.
PG  - e1258-65
LID - 10.1542/peds.2010-1274 [doi]
AB  - OBJECTIVE: 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. METHODS: 
      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. RESULTS: 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. CONCLUSION: 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.
FAU - Holt, Joshua B
AU  - Holt JB
AD  - PO Box 7255, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, 
      USA.
FAU - Poe, Michele D
AU  - Poe MD
FAU - Escolar, Maria L
AU  - Escolar ML
LA  - eng
PT  - Comparative Study
PT  - Journal Article
DEP - 20110425
PL  - United States
TA  - Pediatrics
JT  - Pediatrics
JID - 0376422
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - Cognition Disorders/diagnosis/epidemiology
MH  - Cohort Studies
MH  - Developmental Disabilities/*diagnosis/epidemiology
MH  - *Disease Progression
MH  - Follow-Up Studies
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Mental Disorders
MH  - Motor Skills Disorders/diagnosis/epidemiology
MH  - Mucopolysaccharidosis II/diagnosis/mortality/*physiopathology
MH  - Nervous System Diseases/*diagnosis/epidemiology
MH  - Psychometrics
MH  - Retrospective Studies
MH  - Risk Assessment
MH  - Severity of Illness Index
MH  - Survival Analysis
MH  - Time Factors
EDAT- 2011/04/27 06:00
MHDA- 2011/07/12 06:00
CRDT- 2011/04/27 06:00
PHST- 2011/04/27 06:00 [entrez]
PHST- 2011/04/27 06:00 [pubmed]
PHST- 2011/07/12 06:00 [medline]
AID - peds.2010-1274 [pii]
AID - 10.1542/peds.2010-1274 [doi]
PST - ppublish
SO  - Pediatrics. 2011 May;127(5):e1258-65. doi: 10.1542/peds.2010-1274. Epub 2011 Apr 
      25.