Clinical characteristics of patients with neuronopathic and non-neuronopathic mucopolysaccharidosis type II: Data from the Hunter Outcome Survey
MOLECULAR GENETICS AND METABOLISM(2019)
摘要
Patients with neuronopathic mucopolysaccharidosis type II (MPS II Hunter syndrome) develop progressive cognitive impairment (CI), whereas those with non-neuronopathic disease remain cognitively intact all patients have somatic involvement, but the extent varies widely. Cognitive decline is often apparent by age 5 years, although this also varies. Using data from the HOS registry (Shire July 2017 data), we examined the age at which absence of CI might be considered indicative of non-neuronopathic disease. Examination of cognitive data in HOS (answer to a “yes/no” question, based on clinical impression and/or standardized testing) by age revealed that changes in cognitive status were infrequent after a cut-off age of 10 years. Using this criterion, we compared clinical characteristics of patients with neuronopathic and non-neuronopathic MPS II. Overall, of 146 patients (two female) who had a cognitive assessment available at age 10 years and ≥1 known follow-up assessment aged ≥11-
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关键词
clinical characteristics,patients,non-neuronopathic
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