Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression
| Autor: | Hélène Ogier de Baulny, Jaak Jaeken, Frits A. Wijburg, Joanna L. Elson, Regina Ensenauer, Ron A. Wevers, Dorus Kouwenberg, Thatjana Gardeitchik, Miranda Theodore, Robert McFarland, Miski Mohamed, Maaike de Vries, Samira Achouitar, Stephanie Grunewald, Jolanta Sykut-Cegielska, Saskia B. Wortmann, Katrin Õunap, Diego Martinelli, Leo G.J. Nijtmans, Eva Morava |
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| Přispěvatelé: | AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Metabolic Diseases |
| Jazyk: | angličtina |
| Předmět: |
Male
Research design Pediatrics medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Adolescent Psychological intervention CDG - an Update Neurological examination Neuroinformatics [DCN 3] Genomic disorders and inherited multi-system disorders [IGMD 3] Cohort Studies Congenital Disorders of Glycosylation Rating scale Genetics Humans Medicine Genetics(clinical) Child Genetics (clinical) medicine.diagnostic_test business.industry Mitochondrial medicine Energy and redox metabolism [IGMD 8] Glycostation disorders [IGMD 4] Prognosis Clinical trial Natural history Research Design Child Preschool Disease Progression Female Perception and Action Glycostation disorders [DCN 1] business Natural history study Cohort study |
| Zdroj: | Journal of inherited metabolic disease, 34(4), 923-927. Springer Netherlands Journal of Inherited Metabolic Disease Journal of Inherited Metabolic Disease, 34, 4, pp. 923-7 Journal of Inherited Metabolic Disease, 34, 923-7 |
| ISSN: | 0141-8955 |
| DOI: | 10.1007/s10545-011-9325-5 |
| Popis: | Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous inborn errors of metabolism. At present, treatment is available for only one CDG, but potential treatments for the other CDG are on the horizon. It will be vitally important in clinical trials of such agents to have a clear understanding of both the natural history of CDG and the corresponding burden of disability suffered by patients. To date, no multicentre studies have attempted to document the natural history of CDG. This is in part due to the lack of a reliable assessment tool to score CDG’s diverse clinical spectrum. Based on our earlier experience evaluating disease progression in disorders of oxidative phosphorylation, we developed a practical and semi-quantitative rating scale for children with CDG. The Nijmegen Paediatric CDG Rating Scale (NPCRS) has been validated in 12 children, offering a tool to objectively monitor disease progression. We undertook a successful trial of the NPCRS with a collaboration of nine experienced physicians, using video records of physical and neurological examination of patients. The use of NPCRS can facilitate both longitudinal and natural history studies that will be essential for future interventions. Electronic supplementary material The online version of this article (doi:10.1007/s10545-011-9325-5) contains supplementary material, which is available to authorized users. |
| Databáze: | OpenAIRE |
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