Folliot-Le Doussal Lise, Chadie Alexandra, Brasseur-Daudruy Marie, Verspyck Eric, Saugier-Veber Pascale, Marret Stéphane
Department of Neonatal Pediatrics and Intensive Care -Neuropediatrics, Rouen University Hospital, Rouen, France.
Department of Neonatal Pediatrics and Intensive Care -Neuropediatrics, Rouen University Hospital, Rouen, France.
Early Hum Dev. 2018 Jan;116:9-16. doi: 10.1016/j.earlhumdev.2017.10.004. Epub 2017 Nov 5.
Neurodevelopmental outcome in children with agenesis of the corpus callosum (ACC) is correlated with the presence or absence of associated brain abnormalities. Indeed, neurodevelopmental outcome shows severe disabilities when the ACC is not isolated whereas in isolated forms, the neurologic development is mainly normal. Contrary to data in several published studies, the prognosis remains uncertain even in isolated forms, which may lead in France to medical termination of pregnancy.
To evaluate long-term neurodevelopmental outcome in children with prenatally diagnosed isolated ACC.
DESIGN, SETTING AND PARTICIPANTS: This is a follow-up study conducted in Normandy (France). It included a cohort of 25 children born between January 1991 and June 2016, with a prenatal diagnosis of isolated ACC and who were followed for at least two years.
The average follow-up was 8±5years. ACC was complete in 17 patients (68%), partial in 5 (20%) and hypoplastic in 3 (12%). Whereas global motor development was normal in each case, normal neurodevelopmental outcome or mild disabilities occurred in 88% children and moderate/severe neuro-disabilities were present in 12% of children. Wechsler Intelligence Scale for Children-IV evaluations and Intellectual Total Quotients were within normal range, but we observed lower scores in verbal comprehension, social judgment, executive functions. A lower score in morphosyntax was observed among 52% of children with oral language disorders.
Neurodevelopmental outcome was favorable in most of our patients with isolated ACC, but mild learning disabilities emerged in older children. Long-term follow-up until school age is essential to provide early diagnosis and appropriate care support.
胼胝体发育不全（ACC）患儿的神经发育结局与是否存在相关脑异常有关。事实上，当ACC并非孤立存在时，神经发育结局显示出严重残疾，而在孤立形式中，神经发育主要正常。与多项已发表研究中的数据相反，即使在孤立形式中，预后仍不确定，这在法国可能导致医学性终止妊娠。
评估产前诊断为孤立性ACC患儿的长期神经发育结局。
设计、地点和参与者：这是一项在法国诺曼底进行的随访研究。它纳入了一组25名儿童，这些儿童在1991年1月至2016年6月之间出生，产前诊断为孤立性ACC，并且随访至少两年。
平均随访时间为8±5年。17例患者（68%）的ACC为完全型，5例（20%）为部分型，3例（12%）为发育不全型。尽管每个病例的整体运动发育正常，但88%的儿童神经发育结局正常或有轻度残疾，12%的儿童有中度/重度神经残疾。韦氏儿童智力量表第四版评估和智力总商数在正常范围内，但我们观察到言语理解、社会判断、执行功能得分较低。在52%有口语障碍的儿童中，形态句法得分较低。
在我们大多数患有孤立性ACC的患者中，神经发育结局良好，但年龄较大的儿童出现了轻度学习障碍。直到学龄期的长期随访对于提供早期诊断和适当的护理支持至关重要。
