Developmental Profiles Associated with TUBA1A, TUBB2A, TUBB2B, and TUBB3 Tubulinopathy Conditions.

Tubulinopathies are rare genetic conditions resulting from alterations to genes that encode tubulin proteins. Advances in genetic testing are leading to an increasing number of individuals with tubulinopathy diagnoses, but relatively little prognostic information is available to inform intervention and education planning. The present study aimed to address this gap by analyzing caregiver Developmental Profile Scales-4 ratings for 32 individuals with a confirmed tubulinopathy involving either the TUBA1A, TUBB2A, TUBB2B, or TUBB3 genes. Group-level challenges were observed across all domains evaluated, and motor skills were most severely affected. Individuals with TUBB3 conditions demonstrated relatively milder degrees of delay, and those with cooccurring vision impairments (71%) showed greater overall delays than those without. Implications for future research and treatment recommendations are discussed.