Constructed growth charts and nutrition for pontocerebellar hypoplasia type 2A

To calculate growth charts for pontocerebellar hypoplasia (PCH) type 2A (PCH2A) and compare them to German reference charts, especially with regard to nutritional aspects.

Data were gathered from a cohort of patients with genetically confirmed PCH2A, who were predominantly recruited through the German PCH patient network (65 patients [33 female, 32 male] at a mean age of 8 years 7 months). We collected data retrospectively using a parent questionnaire, and from medical records (December 2020-September 2022). Disease-specific growth charts were prepared from predominantly longitudinal data using the gamlss package implemented in R. Sex-disaggregated growth charts for PCH2A were compared to German reference data from the Kinder- und Jugendgesundheitssurvey (German Health Interview and Examination Survey for Children and Adolescents).

The height and weight of participants with PCH2A were within the reference range at birth. Mean height was significantly lower at 6 months of age, weight at 3 months, and body mass index at 4 months. These deviations were also mostly significant later on. Head circumference in individuals with PCH2A was significantly below average at birth; all participants showed severe and progressive microcephaly in the further course. Caloric intake was within or above reference values.

Participants with PCH2A exhibited progressive microcephaly and frequently failed to thrive. Disease-specific growth charts are a helpful tool to monitor those with PCH2A.