Purpose

The existing data on the neurodevelopmental outcome of children born with an isolated atretic cephalocele (IAC) are scant. We aimed to expand upon these data by describing our experience with affected children, as well as assist parents and clinicians in deciding how to proceed when an IAC is diagnosed prenatally.

Methods

A follow-up study was conducted on nine children who were born with an IAC. Evaluations were performed by pediatric neurologists and child development specialists. Developmental outcomes were based on a global development evaluation that assessed gross and fine motor skills, receptive and expressive language levels, activities of daily living, communication skills, and social domains. Adaptive skills were estimated by the Adaptive Behavior Assessment System, Second Edition.

Results

None of the nine children (median age 4 years and 6 months) had abnormal findings on neurological examination. Six children had age-appropriate developmental milestones, two had a mild motor delay, and one had mild expressive language delay (catchup was achieved by all of the latter three by ~ 3.5 years of age). The mean general adaptive composite score was 105 ± 11.7 (normal = 100). None of the children had behavioral, social, or communication problems.

Conclusions

Children diagnosed with an IAC with/without a falcine sinus and devoid of coexisting intracranial abnormalities seem to have a normal neurodevelopmental outcome. Continuation of pregnancy may be recommended when an IAC is detected prenatally, and reassurance if detected postnatally.

中文翻译：

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患有孤立性闭锁性头颈膨出症的儿童的神经发育结局

目的

现有的关于孤立性闭锁性头颈膨出（IAC）患儿神经发育结局的现有数据很少。我们旨在通过描述我们在患病儿童中的经历来扩展这些数据，并协助父母和临床医生决定在产前诊断出IAC时如何进行。

方法

对9名IAC出生的孩子进行了追踪研究。评估由儿科神经科医生和儿童发育专家进行。发展成果基于一项全球发展评估，该评估评估了粗略和精细的运动技能，接受和表达的语言水平，日常生活活动，沟通技巧和社交领域。适应能力由第二版“适应行为评估系统”进行了评估。

结果

9名儿童（中位年龄4岁6个月）在神经系统检查中均未发现异常。6名儿童具有与年龄相称的发展里程碑，2名儿童有轻度的运动迟缓，1名儿童有轻度的表达语言迟缓（后3个年龄均在3.5岁左右才达到了赶超水平）。总体平均适应性综合评分为105±11.7（正常= 100）。没有一个孩子有行为，社交或沟通方面的问题。

结论

被诊断患有IAC的鼻窦炎/无鼻窦炎且没有颅内异常并存的儿童似乎具有正常的神经发育结局。如果在产前发现IAC，建议继续妊娠，如果在产后发现IAC，则可以放心。