Growth charts in Cockayne syndrome type 1 and type 2

S Baer, N Tuzin, PB Kang, S Mohammed, M Kubota, Yvette van Ierland, T Busa, M Rossi, G Morel, C Michot, G Baujat, M Durand, C Obringer, N Le May, N Calmels, V Laugel

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Abstract

Cockayne syndrome (CS) is a multisystem degenerative disorder divided in 3 overlapping subtypes, with a continuous phenotypic spectrum: CS2 being the most severe form, CS1 the classical form and CS3 the late-onset form. Failure to thrive and growth difficulties are among the most consistent features of CS, leaving affected individuals vulnerable to numerous medical complications, including adverse effects of undernutrition, abrupt overhydration and overfeeding. There is thus a significant need for specific growth charts. We retrospectively collected growth parameters from genetically-confirmed CS1 and CS2 patients, used the GAMLSS package to construct specific CS growth charts compared to healthy children from WHO and CDC databases. Growth data were obtained from 88 CS patients with a total of 1626 individual growth data points. 49 patients were classified as CS1 and 39 as CS2 with confirmed mutations in CSB/ERCC6, CSA/ERCC8 or ERCC1 genes. Individuals with CS1 initially have normal growth parameters; microcephaly occurs from 2 months whereas onset of weight and height restrictions appear later, between 5 and 22 months. In CS2, growth parameters are already below standard references at birth or drop below the 5th percentile before 3 months. Microcephaly is the first parameter to show a delay, appearing around 2 months in CS1 and at birth in CS2. Height and head circumference are more severely affected in CS2 compared to CS1 whereas weight curves are similar in CS1 and CS2 patients. These new growth charts will serve as a practical tool to improve the nutritional management of children with CS.

Original languageEnglish
Article number104105
JournalEuropean Journal of Medical Genetics
Volume64
Issue number1
DOIs
Publication statusPublished - Jan 2021

Bibliographical note

Funding Information:
Families, Amy and Friends UK and NL, Les Ptits Bouts. ”The sponsor was Hôpitaux Universitaires de Strasbourg (Direction de la Recherche Clinique et des Innovations)”. “This research was supported by grants from the Hôpitaux Universitaires de Strasbourg” and from the French Ministry of Health (Cockayne PHRC 2005 R03-03 )

Funding Information:
Families, Amy and Friends UK and NL, Les Ptits Bouts. ”The sponsor was Hôpitaux Universitaires de Strasbourg (Direction de la Recherche Clinique et des Innovations)”. “This research was supported by grants from the Hôpitaux Universitaires de Strasbourg” and from the French Ministry of Health (Cockayne PHRC 2005 R03-03)

Funding Information:
We retrospectively collected growth data from individuals with genetically-confirmed CS1 and CS2 in several established cohorts of CS patients in France, Japan, the UK, the Netherlands and the US. We excluded patients without molecular confirmation. This international multicenter survey was also supported by family support groups in France, the Netherlands and the UK. Both longitudinal and isolated growth data have been included in the survey. We also collected, whenever available, data about the type of nutrition (oral, enteral, nasogastric tube) and the time it was introduced. All data were registered in a password protected database.

Publisher Copyright:
© 2020

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