Introduction

This study of children with Sturge-Weber syndrome (SWS) profiled neurological presentations; compared patients with (+) and without (−) port-wine stain (PWS); and determined risk factors for intellectual and language impairments.

Methods

A retrospective case note review was conducted at a national centre.

Results

This cohort (n = 140, male 72, median follow up 114 months) showed sex parity. Intellectual disability (“ID”: IQ ≤ 70) affected half (66), being severe (IQ ≤ 40) in two-fifths (27) with ID. Language disorder (core score≤70) affected half (57). Neurological presentations were: status epilepticus 57% (80), hemiplegia 58% (81), headaches 36% (50) and acutely acquired neurological deficits lasting over 24 h 40% (56). One-seventh (20) were PWS(−). This group had: fewer lobes with angioma (p < 0.0001); and less frequent ID (p = 0.002) or language disorder (p = 0.013). Seizure frequency and status epilepticus prevalence did not differ from PWS(+).

ID and language disorder were associated with: more lobes with angioma; earlier seizure onset; more frequent status epilepticus and seizure clusters. On multivariable analysis recurrent status epilepticus (p = 0.037) and multi-lobe involvement (p = 0.002) increased the risk of severe intellectual disability. Active epilepsy was associated with language disorder (p = 0.030).

Conclusions

This is the largest reported series documenting detailed developmental profiles of children with SWS, including ID and ASD. PWS(+) shows high rates of ID and language disorder. PWS(−) SWS has a more favourable outcome. Cognitive outcome is contingent on number of affected lobes and bilateral involvement. Epilepsy exerts an additional deleterious effect on language and cognition. A high percentage of children have a history of status epilepticus, with evidence that this impacts language and cognitive outcomes. Acutely acquired neurological deficits did not penalise either. Regular structured clinical and developmental assessment permit greater identification of neurological and neurodevelopmental impairments in SWS, and appropriate support.

中文翻译：

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Sturge-Weber 综合征的神经学表现和认知结果

介绍

这项针对 Sturge-Weber 综合征 (SWS) 儿童的研究描述了神经系统表现；比较有 (+) 和没有 (-) 葡萄酒色斑 (PWS) 的患者；并确定智力和语言障碍的风险因素。

方法

在国家中心进行了回顾性案例说明审查。

结果

该队列（n = 140，男性 72，中位随访 114 个月）显示性别平等。智力障碍（“ID”：IQ ≤ 70）影响了一半（66），五分之二（27）的 ID 为严重（IQ ≤ 40）。语言障碍（核心分数≤70）影响了一半（57）。神经学表现是：癫痫持续状态 57% (80)、偏瘫 58% (81)、头痛 36% (50) 和持续超过 24 小时的急性获得性神经功能缺损 40% (56)。七分之一 (20) 是 PWS(-)。该组有： 血管瘤的叶较少（p < 0.0001）；和不太频繁的 ID (p = 0.002) 或语言障碍 (p = 0.013)。癫痫发作频率和癫痫持续状态患病率与 PWS(+) 没有区别。

ID 和语言障碍与：更多的肺叶有血管瘤；较早发作；更频繁的癫痫持续状态和癫痫发作群。在多变量分析中，复发性癫痫持续状态 (p = 0.037) 和多叶受累 (p = 0.002) 增加了严重智力障碍的风险。活动性癫痫与语言障碍有关（p = 0.030）。

结论

这是记录了 SWS 儿童（包括 ID 和 ASD）详细发育概况的最大报告系列。PWS(+) 显示出很高的智力障碍和语言障碍。PWS(-) SWS 有更有利的结果。认知结果取决于受影响的肺叶数量和双侧受累情况。癫痫对语言和认知产生额外的有害影响。很大比例的儿童有癫痫持续状态的病史，有证据表明这会影响语言和认知结果。急性获得性神经缺陷也没有受到惩罚。定期结构化临床和发育评估允许更好地识别 SWS 中的神经和神经发育障碍，并提供适当的支持。