0000000000040265
AUTHOR
Gloria Bueno-lozano
Reliability and validation of the child eating behavior questionnaire in 3- to 6-year-old Spanish children
IntroductionEating behavior is often established during the first years of life. Therefore, it is important to make a research on it to understand the relationships that children have with food and how this can contribute to prevent the development of childhood obesity. An appropriate assessment of eating behavior can be achieved using the “Child Eating Behavior Questionnaire” (CEBQ). This questionnaire has been validated in several populations and languages, but it has never been translated, adapted, and validated for Spanish children.AimTo evaluate the reliability and internal consistency of the CEBQ questionnaire, culturally adapted and translated into Spanish (Spain), in Spanish familie…
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome (CdLS) that can have major clinical implications. Here, we further delineate the role of somatic mosaicism in CdLS by describing a series of 11 unreported patients with mosaic disease-causing variants in NIPBL and performing a retrospective cohort study from a Spanish CdLS diagnostic center. By reviewing the literature and combining our findings with previously published data, we demonstrate a negative selection against somatic deleterious NIPBL variants in blood. Furthermore, the analysis of all reported cases indicates an unusual high prevalence of mosaicism in CdLS, occurring in 13.1% of p…