Adaptive functioning in children and young adults with monogenic neurodevelopmental disorders

Area of Science:

• Neuroscience
• Genetics
• Developmental Psychology

Background:

• Monogenic neurodevelopmental disorders (NDDs) present diverse behavioral phenotypes.
• Understanding adaptive behavior is crucial for supporting individuals with NDDs.
• Syndrome-specific approaches may not fully capture the heterogeneity of adaptive functioning.

Purpose of the Study:

• To compare syndrome-specific versus transdiagnostic approaches for understanding adaptive behavior in monogenic NDDs.
• To identify adaptive behavior profiles in children with genetically confirmed monogenic NDDs.

Main Methods:

• Cross-sectional study of 243 individuals (ages 1-25) with genetically confirmed monogenic NDDs.
• Parent/caregiver completion of the Vineland Adaptive Behavior Scales, Third Edition.
• Analysis using linear regression and latent profile analysis.

Main Results:

• Few significant differences in adaptive behaviors were found between specific monogenic NDD groups when adjusting for intellectual disability.
• Children with BRPF1 or KANSL1 variants showed better adaptive skills than those with CDK13, DDX3X, DYRK1A, and KAT6A variants.
• Latent profile analysis identified five homogeneous profiles, with most NDDs represented across profiles, suggesting transdiagnostic patterns.

Conclusions:

• A transdiagnostic approach offers a more comprehensive understanding of adaptive behavior in monogenic NDDs.
• Identifying shared adaptive profiles aids in recognizing individual strengths and challenges.
• This approach facilitates the development of more targeted interventions and support strategies.