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Background: Agenesis of the Corpus Callosum (ACC), a congenital disorder in which the corpus callosum partially or completely fails to develop properly, occurs in ~1 in 4,000 live births. ACC has been identified as a major risk factor for receiving an autism spectrum disorder (ASD) diagnosis (~10% diagnosis rate, as compared to 2.3% in the general population). Although children with many neurodevelopmental disorders including ASD experience movement difficulties, there is little information about how motor difficulties may be linked to behavioral and social development in children with ACC, especially in infancy and toddlerhood. The objectives of this study were to 1) determine if there is correlation between early motor behavior and early presentation of autistic features in children with ACC, and 2) determine if early motor ability is associated with later reciprocal social communication skills in young children with ACC.
Methods: A longitudinal study involving 76 children with a diagnosis of ACC was performed. Primary caregivers of these children completed the early motor questionnaire (EMQ) and the parent rated observation of communication, emotion, and social skills (PROCESS) scale at 6 and 12 months of age. At 24 months, caregivers also completed the Video-Referenced Rating of Reciprocal Social Behavior (vrRSB). Correlational analyses were conducted between the global motor score from the EMQ and the PROCESS sum score at the 6-months (n=55) and at 12-months (n=76) timepoints. Secondly, a partial Pearson correlation coefficient was performed between participants’ 12-month global motor and their 24-month reciprocal social behavior score (n=38), controlling for child sex. A partial Pearson correlation was likewise conducted between participants’ 12-month PROCESS score and 24-month reciprocal social behavior score (n=35).
Results: We found a strong correlation between the global motor score and the PROCESS sum score at 12 months (r (74) = -0.74, p < .001) and a moderate correlation between these measure at 6 months (r (53) = -0.40, p = 0.002), indicating that early autistic features may be related to greater motor difficulties in this population. Additionally, global motor scores at 12 months were found to be correlated with reciprocal social communication abilities at 24 months (r (36) = -0.70, p < .001). Lastly, PROCESS sum scores at 12 months also correlated with reciprocal social communication abilities at 24 months (r (33) =0.59, p < .001) in this sample.
Conclusion: Findings indicate strong linkage between early movement difficulties and autistic features in infancy. Further, children with ACC who have greater autistic features and movement difficulties at 12 months of age tend to have greater deficits in reciprocal social behavior at 24 months (a common age for early diagnosis of ASD). This evidence indicates that children with ACC who are at a higher likelihood for being diagnosed with ASD may be identified as early as 12-months old. Formulating and leveraging an early identification methodology is imperative for this population with an already elevated risk for ASD, as providing early interventions leads to improved outcomes later in life.
Keywords: agenesis of the corpus callosum, early motor behavior, reciprocal social behavior, autistic features