Journal article
Early Clinical Markers of Central Nervous System Involvement in Mucopolysaccharidosis Type II
The Journal of pediatrics, Vol.159(2), pp.320-326.e2
08/2011
DOI: 10.1016/j.jpeds.2011.03.019
PMID: 21530981
Abstract
To identify early clinical markers of neurologic involvement in mucopolysaccharidosis type II.
A retrospective review of neurobehavioral standardized assessments of patients with mucopolysaccharidosis type II evaluated at the Program for Neurodevelopmental Function in Rare Disorders was completed. Patients were grouped based on the presence or absence of central nervous system (CNS) involvement at the most recent evaluation. Differences in early signs and symptoms between resulting cohorts were tested for significance, and an index severity score was developed.
Between December 2002 and November 2010, clinical evaluations of 49 patients and 151 patient encounters were reviewed. Thirty-seven patients exhibited neurologic deterioration. Of the 25 signs evaluated, 7 early clinical markers were strongly correlated with subsequent cognitive dysfunction: sleep disturbance, increased activity, behavior difficulties, seizure-like behavior, perseverative chewing behavior, and inability to achieve bowel training and bladder training. A new severity score index was developed, with a score ≥3 indicating a high likelihood of developing CNS disease.
Seven early clinical markers and a severity score index of CNS involvement can be used for initial screening of children who might benefit from CNS-directed therapies.
Details
- Title: Subtitle
- Early Clinical Markers of Central Nervous System Involvement in Mucopolysaccharidosis Type II
- Creators
- Joshua Holt - Medical School at the University of North Carolina School of Medicine, Chapel Hill, NCMichele D Poe - Frank Porter Graham Child Development Institute, Chapel Hill, NCMaria L Escolar - Gene Therapy Center and Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC
- Resource Type
- Journal article
- Publication Details
- The Journal of pediatrics, Vol.159(2), pp.320-326.e2
- Publisher
- Elsevier Inc
- DOI
- 10.1016/j.jpeds.2011.03.019
- PMID
- 21530981
- ISSN
- 0022-3476
- eISSN
- 1097-6833
- Language
- English
- Date published
- 08/2011
- Academic Unit
- Stead Family Department of Pediatrics; Orthopedics and Rehabilitation
- Record Identifier
- 9984040223502771
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