2 Early Presentation of Autistic Features in Infants with Agenesis of the Corpus Callosum
Authors: Hantzsch Lana , Haisley Lauren D , Turner Jasmin , Paul Lynn K , Elison Jed T 
Published: December 2023

Objective: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), but little is currently known about behavioral and social development during infancy and early childhood in this disorder. In this study we aim to 1) characterize the manifestation of autistic features in 24-month-old children (a common age for early diagnosis of ASD) with ACC and a convenience sample of age matched comparison children from the community, and 2) determine if parent reports of autistic features during the first year of life are associated with reciprocal social behavior and autistic traits at 24-months of age in children with ACC.Participants and Methods:Parents of infants who had received a diagnosis of ACC completed the Parent Rating of Communication, Emotion, and Social Skills (PROCESS) for their child at 6, 12, and 24-months of age, and the video-referenced rating of reciprocal social behavior (vrRSB) at 24-months of age. Comparison data were obtained from a convenience community sample in Minnesota. Aim 1). The distributions of PROCESS total scores at 24-months were compared between the ACC group (n=43) and control group (n=1058) via a 2-tailed t-test. Likewise, distributions of reciprocal social behavior (RSB) scores at 24 months were compared between ACC (n=72) and controls (n=1438) via a 2-tailed t-test. Aim 2). A partial Pearson Correlation was conducted between ACC participants’ 6-month PROCESS scores and 24-month RSB (n=18) scores, as well as between their 12-month PROCESS and 24-month vrRSB (n=37) scores, controlling for child sex.Results:Aim 1). At 24 months of age, children with ACC are reported to have significantly higher PROCESS scores (t = 3.73, df = 42.67, p < .001), and RSB (t = 4.89, df = 88.38, p < .001) scores than comparison toddlers, indicating an elevated presentation of behaviors associated with autistic features. Aim 2). No correlation was found between participants’ 6-month PROCESS and 24-month RSB scores (r(16) = .39, p = .12). A relatively strong correlation (r(35) = .60, p < .001) was found between participants’ 12-month PROCESS and 24-month RSB scores.Conclusions:As early as two years of age, children with ACC display a heightened presentation of autistic features compared to typically developing controls. Additionally, reports of social behaviors related to ASD at 24-months are correlated with reports of autistic features at 12-months of age. 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.