This study presents an adapted method to measure empathy-like behaviour in a VPA-induced rat model of ASD, using a restrained sibling and no prior training to minimize confounding factors. Findings show VPA impairs development of empathy-like behaviour and startle response, establishing a consistent model for studying ASD in both sexes.

A novel splicing variant (c.1248_1248+9del) in the KMT2E gene was identified in a patient with West syndrome. Functional assays confirmed exon 12 skipping, expanding the phenotypic spectrum of ODLURO syndrome and highlighting the need for further studies on genotype–phenotype correlations.

Macular thickness is reduced in children with intellectual disability (ID), whereas RNFL thickness shows no significant difference from healthy controls. These findings suggest early retinal structural changes in ID, highlighting the potential of OCT as a noninvasive tool for early diagnosis and monitoring.

Across ethnicities, single nucleotide polymorphisms and variations in six key autism spectrum disorder genes (selected from SFARI database) reveal divergent disease phenotypes.

Self-esteem is not directly associated with psychosis in individuals with the 22q11.2 deletion syndrome (22q11.2DS). Self-esteem and psychopathology differentially relate to real-life functioning in individuals with 22q11.2DS: Although the former appears to be associated with total levels of functioning, only the latter is correlated with patients' social functioning.