Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder.

Background: Autistic Spectrum Disorder (ASD) is a neurodevelopmental disorder with a strong genetic component and high heterogeneity. Essential ASD refers to patients who do not have other comorbidities. This study aimed to investigate the genetic basis of essential ASD using whole exome sequencing (WES) and array-comparative genomic hybridization (array-CGH).

Interconnected Pathways: Postural Stability and Vocabulary Skills in Preschool-Aged Children.

Previous research has highlighted an interplay between postural abilities and linguistic skills during infancy. However, this relationship could undergo further radical transformations in other periods of development. This current study explored a plausible network of relationships among postural abilities and vocabulary skills in a substantial cohort (N = 222) of preschoolers aged between 2 and 5 years-a developmental phase critical for refining both language and motor competencies.

Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches.

The 16p13.11 microdeletion, whose prevalence in the general population is about 0.04%, is known in literature as a predisposition factor to neurodevelopmental disorders, being found in about 0.