Genotype-specific communication profiles in 79,518 individuals with neurodevelopmental disorders

Area of Science:

• Genetics
• Neuroscience
• Speech-Language Pathology

Background:

• Neurodevelopmental disorders (NDDs) present communication challenges, impacting quality of life.
• Previous research on genetic influences on NDD communication was limited in scope and sample size.

Purpose of the Study:

• To investigate the association between genetic status and communication abilities in a large cohort of individuals with NDDs.
• To compare communication profiles across different genetic NDD classifications and specific conditions.

Main Methods:

• Analyzed caregiver-reported communication data from 79,518 individuals with NDDs from Simons Searchlight and SPARK registries.
• Utilized 10 a priori selected communication measures across discovery and confirmation cohorts, including individuals with idiopathic autism spectrum disorder (ASD) as controls.
• Assessed developmental trajectories by grouping participants by age at evaluation.

Main Results:

• Significant associations found between genetic status and communication abilities, with distinct profiles for monogenic versus CNV-based NDDs.
• CNV-based NDDs showed milder impairments, outperforming controls in most measures, while monogenic NDDs exhibited more pervasive verbal communication deficits.
• Five monogenic NDDs demonstrated strengths in nonverbal/social communication (e.g., gestures), and STXBP1 gene group showed highest risk for communication stagnation.

Conclusions:

• Findings support precision speech-language pathology (SLP) approaches tailored to genetic NDD profiles.
• Developmental trajectories indicate age-related changes in communication, necessitating developmentally informed care.
• Integrating genetic data into clinical practice can improve communication outcomes and quality of life for individuals with genetic NDDs.