Giani, L., Michelini, G., Ajmone, P. F., Scaini, S., Allegri, B., Costantino, A., & Vizziello, P. (2025). Executive function deficits as risk markers for psychopathology and autism related traits in cornelia de lange and rubinstein-Taybi syndromes. Journal of Psychiatric Research.
ABSTRACT
Background and aim: 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).
Method: 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.
Results: 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.
Conclusion: 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.