The association between autism spectrum disorder and hydrocephalus is not well understood, despite demonstrated links between autism spectrum disorder and cerebrospinal fluid abnormalities. Based on the hypothesis that autism spectrum disorder and hydrocephalus may, at least in some cases, be two manifestations of a shared congenital brain pathology, we investigated the potential association between autism spectrum disorder and hydrocephalus in a large Danish population-based cohort. Patients and controls were obtained from the Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH2012 case-cohort, which includes all patients with selected psychiatric disorders born in Denmark 1981–2005 along with randomly selected population controls (end of follow-up, December 31, 2016). The associations between individual psychiatric disorders and hydrocephalus were estimated using binary logistic regression with adjustment for age and sex. The cohort consisted of 86,571 individuals, of which 14,654 were diagnosed with autism spectrum disorder, 28,606 were population controls, and the remaining were diagnosed with other psychiatric disorders. We identified 201 hydrocephalus cases; 68 among autism spectrum disorder patients and 40 among controls (OR 3.77, 95% CI 2.48–5.78), which corresponds to an absolute risk of 0.46 % (i.e. approximately one in 217 children with autism spectrum disorder had co-occurring hydrocephalus). The autism spectrum disorder-hydrocephalus association was significant over the entire subgroup spectrum of autism spectrum disorder. Given the considerable risk of hydrocephalus among patients with autism spectrum disorder, we suggest that patients with autism spectrum disorder should be evaluated for co-occurring hydrocephalus on a routine basis as timely neurosurgical intervention is important. Likewise, attention must be paid to traits of autism spectrum disorder in children with hydrocephalus. The results of this study call for future investigations on a potential shared aetiology between hydrocephalus and autism spectrum disorder, including the role abnormal CSF dynamics in the pathogenesis of autism spectrum disorder.

中文翻译：

---

自闭症谱系障碍中并发脑积水：一项基于丹麦人群的队列研究

尽管已证明自闭症谱系障碍与脑脊液异常之间存在联系，但自闭症谱系障碍与脑积水之间的关联尚不清楚。基于自闭症谱系障碍和脑积水可能，至少在某些情况下，是共同先天性脑病理学的两种表现的假设，我们在一个大型丹麦人群队列中调查了自闭症谱系障碍和脑积水之间的潜在关联。患者和对照来自灵北基金会综合精神病学研究计划 iPSYCH2012 病例队列，其中包括 1981-2005 年出生在丹麦的所有选定的精神疾病患者以及随机选择的人群对照（随访结束，2016 年 12 月 31 日） ）。使用二元逻辑回归并调整年龄和性别来估计个体精神疾病与脑积水之间的关联。该队列由 86,571 人组成，其中 14,654 人被诊断为自闭症谱系障碍，28,606 人为人群对照，其余被诊断为其他精神疾病。我们确定了 201 例脑积水病例；自闭症谱系障碍患者中有 68 人，对照组中有 40 人（OR 3.77，95% CI 2.48–5.78），这对应于 0.46 % 的绝对风险（即大约 217 名自闭症谱系障碍儿童中的 1 人同时发生脑积水）。孤独症谱系障碍-脑积水的关联在孤独症谱系障碍的整个亚组范围内都是显着的。鉴于自闭症谱系障碍患者脑积水的风险相当大，我们建议应定期评估自闭症谱系障碍患者是否合并脑积水，因为及时的神经外科干预很重要。同样，必须注意脑积水儿童自闭症谱系障碍的特征。这项研究的结果要求未来对脑积水和自闭症谱系障碍之间潜在的共同病因进行调查，包括异常脑脊液动力学在自闭症谱系障碍发病机制中的作用。必须重视脑积水患儿的自闭症谱系障碍特征。这项研究的结果要求未来对脑积水和自闭症谱系障碍之间潜在的共同病因进行调查，包括异常脑脊液动力学在自闭症谱系障碍发病机制中的作用。必须重视脑积水患儿的自闭症谱系障碍特征。这项研究的结果要求未来对脑积水和自闭症谱系障碍之间潜在的共同病因进行调查，包括异常脑脊液动力学在自闭症谱系障碍发病机制中的作用。