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Growth charts in Cockayne syndrome type 1 and type 2
Sarah Baer1, Nicolas Tuzin2, Peter B Kang3
1Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Insights
New growth charts for Cockayne syndrome (CS) patients show distinct growth patterns. These charts aid in managing nutritional challenges and medical complications in children with CS1 and CS2 subtypes.
Area of Science:
- Genetics and Developmental Biology
- Pediatric Endocrinology
- Medical Informatics
Background:
- Cockayne syndrome (CS) is a severe multisystem degenerative disorder with subtypes CS1, CS2, and CS3.
- Growth difficulties and failure to thrive are consistent features of CS, necessitating specialized monitoring.
- Existing growth charts do not adequately represent the unique growth trajectories of CS patients.
Purpose of the Study:
- To develop specific growth charts for Cockayne syndrome (CS) patients.
- To provide a tool for improved nutritional management and monitoring of CS-affected children.
- To differentiate growth patterns between CS1 and CS2 subtypes.
Main Methods:
- Retrospective collection of growth parameters from 88 genetically-confirmed CS1 and CS2 patients.
- Utilized the GAMLSS package for statistical analysis and growth chart construction.
- Compared CS patient data against WHO and CDC healthy child growth databases.
Main Results:
- Developed specific growth charts for CS1 and CS2, revealing distinct growth patterns.
- CS1 patients show normal initial growth, with microcephaly emerging around 2 months and growth restrictions between 5-22 months.
- CS2 patients exhibit growth parameters below standard at birth or by 3 months, with microcephaly present at birth.
Conclusions:
- New growth charts provide a vital tool for the nutritional management of children with Cockayne syndrome.
- Height and head circumference are more severely impacted in CS2 compared to CS1.
- These charts will enhance clinical care by enabling precise monitoring of CS patient growth trajectories.
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.
