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Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression
Author(s) -
Achouitar Samira,
Mohamed Miski,
Gardeitchik Thatjana,
Wortmann Saskia B.,
SykutCegielska Jolanta,
Ensenauer Regina,
Baulny Hélène Ogier,
Õunap Katrin,
Martinelli Diego,
Vries Maaike,
McFarland Robert,
Kouwenberg Dorus,
Theodore Miranda,
Wijburg Frits,
Grünewald Stephanie,
Jaeken Jaak,
Wevers Ron A.,
Nijtmans Leo,
Elson Joanna,
Morava Eva
Publication year - 2011
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-011-9325-5
Subject(s) - human genetics , medicine , rating scale , medline , pediatrics , intensive care medicine , psychology , biology , genetics , developmental psychology , biochemistry , gene
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.