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

Michal GafnerEugen BoltshauserFulvio D'AbruscoRoberta BattiniLudovica PascaStefano D'ArrigoGinevra ZanniZvi LeibovitzKeren YosovichTally Lerman-Sagienull null

Published in: Developmental medicine and child neurology (2022)

This study expands the natural history of CASK-related disorders to the prenatal period, showing evidence of progressive deceleration of head circumference growth rate, head circumference below -2SD, or small TCD. Most cases will not be diagnosed according to current recommendations for fetal central nervous system routine assessment. Consecutive measurements and genetic studies are advised in the presence of progressive deceleration of head circumference growth rates or small TCD.

Keyphrases

body mass index
optic nerve
multiple sclerosis
pregnant women
body weight
clinical practice
gene expression
cerebrospinal fluid