Physical, motor, sensory and developmental features associated with agenesis of the corpus callosum

Abstract

Background: The study objective was to develop a profile of characteristics and diagnostic indicators of agenesis of the corpus callosum (ACC) using a large sample of individuals with ACC and their siblings. Very few previous studies have been able to access large populations in order to develop a comprehensive profile.

Methods: Caregivers of 720 individuals with ACC and 219 siblings, the largest sample studied to date, provided surveys with data on diagnoses, physical characteristics, developmental patterns and physical functioning.

Results: Compared with siblings, individuals with ACC exhibited a pattern of delayed motor development, difficulty with balance and bimanual movements, large head size, poor muscle tone, poor depth perception, reduced pain perception, sleeping difficulties and an increased proportion of left and mixed handedness.

Conclusions: These results extend previous descriptions but are also consistent with published reports that used small samples and single case studies. The data provide a profile that has implications for early detection and intervention of individuals with ACC as well as for highlighting future research directions to extend knowledge about ACC.