Executive function deficits as risk markers for psychopathology and autism related traits in cornelia de lange and rubinstein-Taybi syndromes.

Researchers studied 29 children with two rare genetic conditions to understand how thinking skills problems (like difficulty with self-control, switching between tasks, and planning) relate to emotional and behavioral challenges. They found that children with weaker thinking skills had more emotional problems, behavioral difficulties, and autism-related traits. This suggests that targeting thinking skills in therapy programs might help reduce these challenges in children with rare genetic conditions.

This cross-sectional study examined 29 children with rare genetic syndromes (14 with Cornelia de Lange syndrome, 15 with Rubinstein-Taybi syndrome) to investigate how executive function deficits relate to emotional, behavioral, and autism-related symptoms. Using standardized assessments, researchers found that specific executive function skills - inhibition, set-shifting, and planning - were the strongest predictors of clinically significant psychological difficulties and autism-related traits in both syndromes. The findings suggest executive function deficits may serve as transdiagnostic risk factors across these rare genetic conditions, similar to patterns observed in typical development.

Findings support targeting executive function skills in therapeutic interventions for children with rare genetic syndromes. Assessing inhibition, set-shifting, and planning abilities may help identify children at risk for emotional, behavioral, and autism-related difficulties, enabling early intervention and more personalized treatment approaches.

Very small sample sizes (14 and 15 participants per group) limit generalizability. Cross-sectional design prevents causal inferences about executive function deficits and psychopathology. Reliance on parent-report measures may introduce bias. No comparison with typically developing controls.

There is evidence that executive function (EF) deficits might act as transdiagnostic risk factors for a wide range of psychopathology in typically developmental children. We aim to test the implications of EF deficits on internalizing, externalizing and autistic symptoms in youth with Cornelia de Lange (CdLS) and Rubinstein-Taybi syndromes (RSTS). This cross-sectional study was carried out on a sample of 14 patients with CdLS (64 % girls, age = 8.00 ± 4.55) and 15 patients with RSTS (53 % girls, age = 10.27 ± 4.65) recruited through follow-ups. Executive functioning, internalizing and externalizing symptoms, and ASD-related traits were assessed with the Behavior Rating Inventory of Executive Function, the Child Behavior Checklist, and the Social Communication Questionnaire.

Stepwise linear regression analyses were performed. Inhibition, set-shifting and planning emerged as the most robust EF predictors of clinically relevant emotional and behavioral difficulties in CdLS and RSTS, as well as of the triads of impairments associated with syndromic autism. Being aware of the neuropsychological deficits underneath a broad spectrum of psychological symptoms might foster the setting up of proper rehabilitative programs targeting EF deficits to reduce psychopathology in rare genetic syndromes.