Haisley Lauren D, Hantzsch Lana, Glick Aaron R, Turner Jasmin, Sung Sooyeon, Swanson Meghan R, Wolff Jason J, Burrows Catherine A, Botteron Kelly N, Dager Stephen R, Estes Annette M, Flake Lisa, McKinstry Robert C, Pandey Juhi, Schultz Robert T, Shen Mark D, John Tanya St, Zwaigenbaum Lonnie, Hazlett Heather C, Marrus Natasha, Will Elizabeth A, Roberts Jane E, Piven Joseph, Paul Lynn K, Elison Jed T
Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota.
Institute of Child Development, College of Education and Human Development, University of Minnesota, Minneapolis, Minnesota.
Pediatrics. 2025 May 1;155(5). doi: 10.1542/peds.2024-066555.
Agenesis of the corpus callosum (ACC) is a common congenital brain malformation. Early development in ACC remains unexamined, despite the increased likelihood for developmental delays and autistic behaviors. This study compares adaptive functioning in infants/toddlers with isolated ACC to children with other neurodevelopmental conditions and typical development.
Parents of children with ACC completed the Vineland Adaptive Behavior Scale Interview at 6, 12, 18, and 24 months as part of a prospective longitudinal study. Comparison groups included children with fragile X, Down syndrome, high familial likelihood of autism spectrum disorder (both with and without autism spectrum diagnosis), and typical development (total n = 957; total assessments = 2676).
By 24 months, 29% of children with ACC were delayed in at least 1 domain. Linear mixed effect models showed significant group × time point interactions in all domains. Post-hoc comparisons revealed the ACC group had poorer performance in communication by 6, motor by 12, and daily living by 18 months but equivalent socialization compared with typically developing children; stronger skills across most domains and time points compared with genetic groups; and equivalent communication, stronger socialization, and weaker motor skills compared with the autism group.
Although there is significant variability, on average, ACC compromises communication skills by 6 months, with reduced motor and daily living skills by 12 and 18 months, respectively. Multipronged intervention programs are needed for ACC beginning early in the first year of life, possibly leveraging early strengths in social skills.
胼胝体发育不全(ACC)是一种常见的先天性脑畸形。尽管发育迟缓及自闭症行为的可能性增加,但ACC的早期发育情况仍未得到研究。本研究比较了孤立性ACC婴幼儿与其他神经发育疾病患儿及正常发育儿童的适应性功能。
作为一项前瞻性纵向研究的一部分,ACC患儿的父母在患儿6、12、18和24个月时完成了《文兰适应行为量表访谈》。比较组包括脆性X综合征患儿、唐氏综合征患儿、自闭症谱系障碍家族遗传可能性高的患儿(无论是否有自闭症谱系诊断)以及正常发育儿童(共957名;共进行了2676次评估)。
到24个月时,29%的ACC患儿至少在1个领域存在发育迟缓。线性混合效应模型显示,在所有领域中,组×时间点的交互作用均显著。事后比较显示,与正常发育儿童相比,ACC组在6个月时沟通能力较差,12个月时运动能力较差,18个月时日常生活能力较差,但社交能力相当;与基因相关组相比,在大多数领域和时间点技能更强;与自闭症组相比,沟通能力相当,社交能力更强,运动技能较弱。
虽然存在显著差异,但平均而言,ACC会在6个月时损害沟通能力,在12个月和18个月时分别降低运动和日常生活能力。对于ACC患儿,需要从出生后第一年早期就开始实施多方面的干预计划,可能要利用其早期社交技能优势。