The prospective associations between bullying experiences, body image shame and disordered eating in a sample of adolescent girls

Objective: The current analysed the prospective effect of bullying on body image shame and disordered eating symptomatology in adolescent girls. Method: The study was conducted with 290 adolescent girls, and involved three waves of data collection assessing over time victimization experiences, body image shame and disordered eating symptomatology. At the beginning of the study, the participants average age was 13.73 years (SD = 0.78). Latent growth models were used to fit the data to identify the effect of bullying on the outcomes. Path analysis examined the mediator effect of body image shame on the association between bullying and disordered eating. Results: Bullying had a significant effect on the initial status of both body image shame and disordered eating. Body image shame and disordered eating growth was stable over time. Body image shame significantly mediated the relationship between bullying and disordered eating symptomatology. Conclusions: Findings suggest that programmes aimed at preventing bullying and associated shame could decrease the risk of initially developing body image issues and disordered eating

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

De novo variants are a leading cause of neurodevelopmental disorders (NDDs), but because every monogenic NDD is different and usually extremely rare, it remains a major challenge to understand the complete phenotype and genotype spectrum of any morbid gene. According to OMIM, heterozygous variants in KDM6B cause “neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.” Here, by examining the molecular and clinical spectrum of 85 reported individuals with mostly de novo (likely) pathogenic KDM6B variants, we demonstrate that this description is inaccurate and potentially misleading. Cognitive deficits are seen consistently in all individuals, but the overall phenotype is highly variable. Notably, coarse facies and distal skeletal anomalies, as defined by OMIM, are rare in this expanded cohort while other features are unexpectedly common (e.g., hypotonia, psychosis, etc.). Using 3D protein structure analysis and an innovative dual Drosophila gain-of-function assay, we demonstrated a disruptive effect of 11 missense/in-frame indels located in or near the enzymatic JmJC or Zn-containing domain of KDM6B. Consistent with the role of KDM6B in human cognition, we demonstrated a role for the Drosophila KDM6B ortholog in memory and behavior. Taken together, we accurately define the broad clinical spectrum of the KDM6B-related NDD, introduce an innovative functional testing paradigm for the assessment of KDM6B variants, and demonstrate a conserved role for KDM6B in cognition and behavior. Our study demonstrates the critical importance of international collaboration, sharing of clinical data, and rigorous functional analysis of genetic variants to ensure correct disease diagnosis for rare disorders.Genetics of disease, diagnosis and treatmen