Autism traits in children and adolescents with Cornelia de Lange syndrome

Area of Science:

• Genetics and Developmental Disorders
• Neuroscience and Behavioral Science
• Pediatric Health

Background:

• Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by growth delays, limb abnormalities, and intellectual disability.
• Individuals with CdLS frequently exhibit autistic features, necessitating a deeper understanding of their behavioral phenotype.
• Cohesinopathies, like CdLS, impact crucial cellular processes, influencing neurodevelopment and behavior.

Purpose of the Study:

• To characterize the behavioral phenotype of children with CdLS, focusing on autistic features and maladaptive behaviors.
• To investigate the impact of age on the behavioral and adaptive functioning of children with CdLS.
• To identify specific autistic traits and their correlation with maladaptive behaviors in the CdLS population.

Main Methods:

• Forty-one children (ages 5-18) with CdLS underwent standardized assessments: Childhood Autism Rating Scale (CARS), Aberrant Behavior Checklist, and Vineland Adaptive Behaviors Scales.
• CdLS severity and features were evaluated using the Diagnostic Criteria for CdLS.
• Statistical analyses were performed to compare behavioral characteristics and the impact of age.

Main Results:

• 17.1% had no autism, 41.4% mild autism, and 41.4% severe autism based on CARS scores.
• Characteristic autistic features included abnormal emotional responses, stereotypies, rigidity, and poor verbal communication.
• Verbal communication deficits and repetitive behaviors were more pronounced than sensory or social cognition issues. Maladaptive behaviors like stereotypies and hyperactivity were linked to autism traits.
• While daily living activities were affected, socialization adaptive skills were a relative strength.
• Advancing age significantly worsened socialization and communication domains.

Conclusions:

• CdLS is strongly associated with autistic features, especially repetitive behaviors and expressive language deficits.
• Socialization adaptive skills, though initially a relative strength, decline with age in individuals with CdLS.
• Early identification and intervention are crucial to address age-related communication and socialization challenges in children with CdLS.