title: Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression.
abstract: 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.
authors.affiliation: Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors.forename: Samira
authors.initials: S
authors.lastname: Achouitar
authors.forename: Miski
authors.initials: M
authors.lastname: Mohamed
authors.forename: Thatjana
authors.initials: T
authors.lastname: Gardeitchik
authors.forename: Saskia B
authors.initials: SB
authors.lastname: Wortmann
authors.forename: Jolanta
authors.initials: J
authors.lastname: Sykut-Cegielska
authors.forename: Regina
authors.initials: R
authors.lastname: Ensenauer
authors.forename: Hélène Ogier
authors.initials: HO
authors.lastname: de Baulny
authors.forename: Katrin
authors.initials: K
authors.lastname: Õunap
authors.forename: Diego
authors.initials: D
authors.lastname: Martinelli
authors.forename: Maaike
authors.initials: M
authors.lastname: de Vries
authors.forename: Robert
authors.initials: R
authors.lastname: McFarland
authors.forename: Dorus
authors.initials: D
authors.lastname: Kouwenberg
authors.forename: Miranda
authors.initials: M
authors.lastname: Theodore
authors.forename: Frits
authors.initials: F
authors.lastname: Wijburg
authors.forename: Stephanie
authors.initials: S
authors.lastname: Grünewald
authors.forename: Jaak
authors.initials: J
authors.lastname: Jaeken
authors.forename: Ron A
authors.initials: RA
authors.lastname: Wevers
authors.forename: Leo
authors.initials: L
authors.lastname: Nijtmans
authors.forename: Joanna
authors.initials: J
authors.lastname: Elson
authors.forename: Eva
authors.initials: E
authors.lastname: Morava
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D018981:Congenital Disorders of Glycosylation / Q000145:classification* / Q000175:diagnosis*; D018450:Disease Progression; D005260:Female; D006801:Humans; D008297:Male; D010372:Pediatrics / Q000379:methods*; D011379:Prognosis; D012107:Research Design