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Characterizing Communication in Rare Genetic Disorder

A comprehensive characterization of speech and language in individuals with CDK13-related disorder is reported in the European Journal of Human Genetics this week. CDK13 is a cyclin-dependent kinase involved in transcription and posttranscriptional processing, playing a critical role in embryonic development. CDK13-related disorder — caused by pathogenic variants in CDK13 — is characterized by heart defects, certain facial features, and intellectual disability, with speech and language impairments among the most impacted areas of patient neurodevelopment. However, a systematic characterization of communication associated with CDK13-related disorder has not been conducted. In this week's study, a team led by scientists from the Murdoch Children's Research Institute examined speech, language, non-verbal communication skills, social behavior, and health and development in 41 CDK13-related disorder patients from 10 countries. Among their key findings is a prevalence of childhood apraxia of speech in those with CDK13-related disorder, even though it had only been previously described in one patient before. Recognition of this rare speech disorder, the study's authors write, "is required to ensure appropriately targeted therapy."