Singh Jatinder, Lanzarini Evamaria, Santosh Paramala
Department of Child and Adolescent Psychiatry, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK; Centre for Interventional Paediatric Psychopharmacology and Rare Diseases, South London and Maudsley NHS Foundation Trust, London, UK; Centre for Personalised Medicine in Rett Syndrome, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Child and Adolescent Neuropsychiatry Unit, Infermi Hospital, Rimini, Italy.
Neurosci Biobehav Rev. 2020 Nov;118:809-827. doi: 10.1016/j.neubiorev.2020.08.012. Epub 2020 Aug 27.
Rett Syndrome (RTT) is a complex neurodevelopmental disorder with autonomic nervous system dysfunction. The understanding of this autonomic dysregulation remains incomplete and treatment recommendations are lacking. By searching literature regarding childhood brain injury, we wanted to see whether understanding autonomic dysregulation following childhood brain injury as a prototype can help us better understand the autonomic dysregulation in RTT. Thirty-one (31) articles were identified and following thematic analysis the three main themes that emerged were (A) Recognition of Autonomic Dysregulation, (B) Possible Mechanisms & Assessment of Autonomic Dysregulation and (C) Treatment of Autonomic Dysregulation. We conclude that in patients with RTT (I) anatomically, thalamic and hypothalamic function should be explored, (II) sensory issues and medication induced side effects that can worsen autonomic function should be considered, and (III) diaphoresis and dystonia ought to be better managed. Our synthesis of data from autonomic dysregulation in paediatric brain injury has led to increased knowledge and a better understanding of its underpinnings, leading to the development of application protocols in children with RTT.
雷特综合征(RTT)是一种伴有自主神经系统功能障碍的复杂神经发育障碍。目前对这种自主神经调节异常的理解仍不完整,且缺乏治疗建议。通过检索有关儿童脑损伤的文献,我们想了解将儿童脑损伤后的自主神经调节异常作为一个原型来理解,是否有助于我们更好地理解雷特综合征中的自主神经调节异常。我们识别出了31篇文章,经过主题分析后,出现的三个主要主题是:(A)自主神经调节异常的识别;(B)自主神经调节异常的可能机制及评估;(C)自主神经调节异常的治疗。我们得出结论,对于雷特综合征患者,(I)在解剖学上,应探究丘脑和下丘脑功能;(II)应考虑可能加重自主神经功能的感觉问题和药物引起的副作用;(III)应对多汗和肌张力障碍进行更好的管理。我们对小儿脑损伤中自主神经调节异常数据的综合分析增加了相关知识,并使其基础得到了更好的理解,从而促成了针对雷特综合征患儿的应用方案的制定。