| Early Clinical Markers of Central Nervous System Involvement in Mucopolysaccharidosis Type II. | |
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MedLine Citation:
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PMID: 21530981 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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OBJECTIVE: To identify early clinical markers of neurologic involvement in mucopolysaccharidosis type II. STUDY DESIGN: 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. RESULTS: 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. CONCLUSION: 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. |
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Authors:
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Joshua Holt; Michele D Poe; Maria L Escolar |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-4-28 |
Journal Detail:
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Title: The Journal of pediatrics Volume: - ISSN: 1097-6833 ISO Abbreviation: - Publication Date: 2011 Apr |
Date Detail:
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Created Date: 2011-5-2 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0375410 Medline TA: J Pediatr Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Mosby, Inc. All rights reserved. |
Affiliation:
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Medical School at the University of North Carolina School of Medicine. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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