Developmental medicine and child neurology · 2025
Constructed growth charts and nutrition for pontocerebellar hypoplasia type 2A.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Kuhn Alice, Hackenberg Maren, Klauser Anna-Lena, Herrmann Antonia, Matilainen Julia, Mayer Simone, Frölich Saskia, Krägeloh-Mann Ingeborg, Groeschel Samuel, Janzarik Wibke G
Аннотация
AIM: To calculate growth charts for pontocerebellar hypoplasia (PCH) type 2A (PCH2A) and compare them to German reference charts, especially with regard to nutritional aspects.
METHOD: 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).
RESULTS: 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.
INTERPRETATION: Participants with PCH2A exhibited progressive microcephaly and frequently failed to thrive. Disease-specific growth charts are a helpful tool to monitor those with PCH2A.
METHOD: 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).
RESULTS: 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.
INTERPRETATION: Participants with PCH2A exhibited progressive microcephaly and frequently failed to thrive. Disease-specific growth charts are a helpful tool to monitor those with PCH2A.