Association of somatic burden of disease with age and neuropsychological measures in attenuated mucopolysaccharidosis types I, II and VI
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- 作者：Alia Ahmed<sup>asup><sup> ; sup><sup>ahmed306@umn.edu" class="auth_mail" title="E-mail the corresponding authorsup> ; Elsa Shapiro<sup>asup> ; Kyle Rudser<sup>bsup> ; Alicia Kunin-Batson<sup>asup> ; Kelly King<sup>asup> ; Chester B. Whitley<sup>asup>
- 关键词：Mucopolysaccharidosis (MPS) ; Physical Symptom Score (PSS) ; Somatic disease burden ; Neuropsychological measures ; Enzyme replacement therapy
- 刊名：Molecular Genetics and Metabolism Reports
- 出版年：2016
- 出版时间：June 2016
- 年：2016
- 卷：7
- 期：Complete
- 页码：27-31
- 全文大小：342 K
文摘
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MPS-specific physical symptom scale introduced a Physical Symptom Score (PSS) by quantifying the somatic disease burden
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PSS was significantly positively associated with age in attenuated MPS I, MPS II and MPS VI
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PSS was significantly negatively associated with Full Scale IQ (FSIQ) in attenuated MPS I and in MPS VI
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PSS was not statistically significantly associated with FSIQ in MPS II, but had similar direction as other two groups
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• There were no previous studies that examined the association of PSS in MPS disorders with neuropsychological functions