Centre de référence « Déficiences Intellectuelles de causes rares », Hôpital Femme Mère Enfant, Hospices Civils de Lyon, F-69677 Bron, France; Université de Lyon, F-69008 Lyon, France; Institut des Sciences Cognitives, CNRS UMR 5304, F-69675 Bron, France.
Centre de référence « Déficiences Intellectuelles de causes rares », Hôpital Femme Mère Enfant, Hospices Civils de Lyon, F-69677 Bron, France; Neuropédiatrie, CHU de Montpellier, F-34295 Montpellier, France; U1046 INSERM UMR 9214 CNRS, Université de Montpellier, France.
Eur J Paediatr Neurol. 2018 Jan;22(1):82-92. doi: 10.1016/j.ejpn.2017.08.003. Epub 2017 Sep 5.
Neurodevelopmental outcome of apparently isolated agenesis of the corpus callosum (ACC) remains a major concern with uncertain prognosis. Despite "normal" IQ reported in a majority of patients, the rates of learning disabilities and severe outcome (ranging from 0% to 20%) are not clearly established.
A large population-based series was investigated based on a longitudinal follow-up until school age, using Wechsler Intelligence scales at 3, 5, and 7 years.
Fifty women were referred to a tertiary referral unit for an "apparently" isolated ACC confirmed by ultrasound, foetal MRI, and karyotyping or array CGH. Twelve pregnancies were terminated, one foetus died in utero, one pregnancy outcome was unknown, and 36 babies were born. Two were lost to follow-up. Thirty-four children could be classified into three groups. Group 1 comprised two children (6%) with severe intellectual disability (one Mowat-Wilson syndrome and one ASD). Group 2 comprised 10 children (29%) who had learning disabilities and borderline intellectual functioning (VIQ and/or PIQ scores >70 and <85); three patients had hypopituitarism with additional MRI anomalies revealed after birth. Group 3 comprised 22 children (65%) who had both VIQ and PIQ >85 (-1 SD) with a normal school level. Longitudinal follow-up revealed weaker PIQ in younger children which improved with age.
Our data indicate that intellectual ability is normal (IQ > 85) in approximately two thirds and borderline in just over a quarter of patients. However, a low risk of severe cognitive impairment exists, and this information should be shared with couples during prenatal counselling.
孤立性胼胝体发育不全（ACC）的神经发育预后仍然是一个主要关注点，其预后不确定。尽管大多数患者报告的智商“正常”，但学习障碍和严重结局的发生率（0%至 20%）尚不清楚。
本研究基于纵向随访至学龄期，使用韦氏智力量表在 3、5 和 7 岁时进行评估，对一个基于人群的大型系列进行了调查。
50 名女性因超声、胎儿 MRI 和核型分析或 array CGH 证实的“明显”孤立性 ACC 被转诊至三级转诊单位。12 例妊娠终止，1 例胎儿宫内死亡，1 例妊娠结局不明，36 例婴儿出生。2 例失访。34 名儿童可分为三组。第 1 组包括 2 名（6%）患有严重智力障碍的儿童（1 名患有 Mowat-Wilson 综合征，1 名患有自闭症）。第 2 组包括 10 名（29%）有学习障碍和边缘智力功能的儿童（言语智商和/或操作智商得分>70 且<85）；3 名患者出生后发现伴有垂体功能减退症的额外 MRI 异常。第 3 组包括 22 名（65%）儿童言语智商和操作智商均>85（-1 标准差），处于正常的学校水平。纵向随访显示，年龄较小的儿童 PIQ 较弱，随着年龄的增长而改善。
我们的数据表明，大约三分之二的患者智力正常（智商>85），四分之一以上的患者智力边缘正常。然而，存在认知障碍严重程度低的风险，应在产前咨询时将此信息与夫妇分享。
