Background

We sought to expand our knowledge of the clinical spectrum of GNAO1-related neurodevelopmental disorders through a caregiver survey reviewing medical and developmental history and development of epilepsy and movement disorders.

Methods

An online survey was administered to caregivers of individuals diagnosed with GNAO1 pathogenic variants.

Results

Eighty-two surveys were completed. Nearly all (99%) reported the first symptom of concern by age one year with the most frequently identified concerns as hypotonia (68%), developmental delay (67%), seizures (29%), difficulty feeding (23%), and abnormal movements (20%). All caregivers reported developmental delays with a spectrum of severity. Movement disorders (76%) were more common than epilepsy (52%), although 33% reported both. The onset of seizures tended to be earlier than abnormal movements. Nearly half (48%) of those with any seizures, reported they were no longer having recurrent seizures. No single most effective medication for movement disorders or epilepsy was noted. Ten participants have had deep brain stimulator for their movement disorder, and all indicated positive effects.

Conclusions

GNAO1-related neurodevelopmental disorders most often present within the first year of life with nonspecific symptoms of hypotonia or developmental delay. Although associated epilepsy and movement disorders can be severe, GNAO1-associated epilepsy may not always be medically refractory or lifelong.

中文翻译：

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第一次 GNAO1 相关神经发育障碍照顾者调查的结果

背景

我们试图通过一项回顾癫痫和运动障碍的医学和发育史以及发展的护理人员调查，扩大我们对GNAO1相关神经发育障碍临床谱的了解。

方法

对诊断为GNAO1致病性变异的个人的护理人员进行了在线调查。

结果

完成了八十二次调查。几乎所有 (99%) 都报告了 1 岁时出现的首发症状，最常见的问题是肌张力减退 (68%)、发育迟缓 (67%)、癫痫发作 (29%)、喂养困难 (23%) 和异常运动（20%）。所有护理人员都报告了一系列严重程度的发育迟缓。运动障碍 (76%) 比癫痫 (52%) 更常见，尽管 33% 报告了两者。癫痫发作往往早于异常运动。近一半（48%）有任何癫痫发作的人报告说他们不再反复发作。没有发现任何一种对运动障碍或癫痫最有效的药物。十名参与者对他们的运动障碍进行了深部脑刺激器，并且都显示出积极的效果。

结论

GNAO1相关的神经发育障碍最常出现在生命的第一年内，伴有肌张力减退或发育迟缓的非特异性症状。尽管相关的癫痫和运动障碍可能很严重，但与 GNAO1相关的癫痫可能并不总是在医学上难治或终生。