Expanding the natural history of CASK-related disorders to the prenatal period

Abstract

This study investigated how specific genetic mutations in the CASK gene are associated with a condition known as microcephaly with pontine and cerebellar hypoplasia (MICPCH), which affects the size of the head and certain parts of the brain. The researchers aimed to determine if signs of this condition could be identified before birth.

The researchers collected data from 49 patients, primarily sourcing information from a CASK parents' social media group and colleagues specializing in cerebellar malformations. They discovered that 59% of the fetuses exhibited smaller-than-average head circumferences before birth, with 76% displaying a decrease in head circumference growth rate during pregnancy. At birth, nearly half of the babies had head circumferences below the 2nd percentile.

Furthermore, 41% of the fetuses had below-average measurements for the cerebellum, indicating that signs of this condition can indeed manifest before birth.

The study suggests that current methods for routine fetal brain assessments may not effectively detect most cases of this condition. Therefore, the researchers recommend regular monitoring of head circumference growth and genetic testing if there are indications of growth deceleration or abnormalities in cerebellar measurements.