Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations
| Autor: | James E. Wraith, Christian J. Hendriksz, Michael C Fahey, Frits A. Wijburg, Frédéric Sedel, Stefan A. Kolb, Mark Walterfang, Mercedes Pineda, Harbajan Chadha-Boreham, Marc C. Patterson |
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| Přispěvatelé: | AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Metabolic Diseases |
| Rok vydání: | 2013 |
| Předmět: |
Male
Risk Pathology medicine.medical_specialty Pediatrics Ataxia Adolescent Disease Decision Support Techniques Genetics medicine Humans Mass Screening Genetics(clinical) Screening tool Child Genetics (clinical) Mass screening Retrospective Studies Prediction score Niemann–Pick disease type C business.industry Data Collection Age Factors Infant Niemann-Pick Disease Type C Retrospective cohort study medicine.disease Logistic Models Phenotype Psychotic Disorders ROC Curve Child Preschool Splenomegaly Female Original Article medicine.symptom Cognition Disorders business Niemann–Pick disease |
| Zdroj: | Journal of inherited metabolic disease, 37(1), 93-101. Springer Netherlands Journal of Inherited Metabolic Disease |
| ISSN: | 1573-2665 0141-8955 |
| DOI: | 10.1007/s10545-013-9626-y |
| Popis: | Objective The Suspicion Index (SI) screening tool was developed to identify patients suspected of having Niemann-Pick disease type C (NP-C). The SI provides a risk prediction score (RPS) based on NP-C manifestations within and across domains (visceral, neurological, and psychiatric). The aim of these subanalyses was to further examine the discriminatory power of the SI by age and manifestation–associations by NP-C suspicion-level and leading manifestations. Methods The original retrospectively collected data were split into three patient age groups, where NP-C-positive cases were >16 years (n = 30), 4–16 years (n = 18), and 16 years) and 0.981 (4–16 years) but weaker 0.562 for infants (4 years, prominent leading manifestation–associations were ataxia with dystonia, dysarthria/dysphagia, and cognitive decline. Psychosis was associated with dysarthria/dysphagia but also with cognitive decline and treatment-resistant psychiatric symptoms. Conclusions The SI tool maintains strong discriminatory power in patients >4 years but is not as useful for infants |
| Databáze: | OpenAIRE |
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