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.
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.
J Psychiatr Res. 2021 Jun;138:186-193. doi: 10.1016/j.jpsychires.2021.03.052. Epub 2021 Apr 7.
Rett syndrome (RTT) is a severe genetic neurodevelopmental disorder. Emotional, Behavioural and Autonomic Dysregulation (EBAD), is frequent in RTT and is associated with multiple impairments. There are major challenges in the clinical assessment of emotions, behaviours, and autonomic function in RTT patients that limit the management of symptoms.
Web-based technology (HealthTracker™) to measure the phenotype, and non-invasive, wearable sensor technology to evaluate autonomic function through Electrodermal Activity (EDA) and Heart Rate Variability (HRV) in 10 RTT patients was used, and treatment response of EBAD symptoms was monitored after different pharmacological treatments.
and discussion: 4 patients received buspirone, 2 sertraline, 1 gabapentin and 3 were not started on medications. Buspirone normalized the EDA in 3 patients with associated improvement in EBAD, whilst another patient only improved marginally. Both patients treated with sertraline (including one with normal EDA) significantly improved symptomatically. The patients on unchanged regimens showed no change in symptoms and autonomic function. Within 24 h of our assessment, one patient required intensive inpatient care due to septicaemia - this patient had been on gabapentin and showed a sharp and sustained EDA increase without obvious worsening of emotional and behavioural symptoms. Unlike the EDA, the analyses of HRV metrics did not reveal patterns that were associated with clinical outcomes. Our findings suggest a reasonable association of EDA normalization and symptomatic improvement in RTT subjects with EBAD treated with buspirone and point out its potential application as a measure of dysautonomia in RTT. Very high and sustained EDA levels may be a biomarker for concurrent serious physical illness in RTT.
雷特综合征（RTT）是一种严重的遗传性神经发育障碍。情绪、行为和自主神经失调（EBAD）在 RTT 中很常见，并且与多种损伤有关。在 RTT 患者中，情绪、行为和自主功能的临床评估存在重大挑战，这限制了症状的管理。
使用基于网络的技术（HealthTracker™）来测量表型，以及非侵入性、可穿戴传感器技术通过皮肤电活动（EDA）和心率变异性（HRV）来评估自主功能，对 10 名 RTT 患者进行了评估，并在进行不同药物治疗后监测 EBAD 症状的治疗反应。
讨论：4 名患者接受了丁螺环酮治疗，2 名患者接受了舍曲林治疗，1 名患者接受了加巴喷丁治疗，3 名患者未开始药物治疗。丁螺环酮使 3 名患者的 EDA 正常化，同时 EBAD 也有改善，而另一名患者仅略有改善。接受舍曲林治疗的两名患者（包括一名 EDA 正常的患者）症状明显改善。未改变治疗方案的患者症状和自主功能均无变化。在我们评估后的 24 小时内，一名患者因败血症需要强化住院治疗 - 这名患者一直在服用加巴喷丁，并且 EDA 急剧且持续增加，而情绪和行为症状没有明显恶化。与 EDA 不同，HRV 指标的分析没有显示出与临床结果相关的模式。我们的发现表明，EBAD 治疗中丁螺环酮和舍曲林治疗与 RTT 患者的 EDA 正常化和症状改善之间存在合理关联，并指出其作为 RTT 自主神经功能障碍的测量方法的潜在应用。非常高且持续的 EDA 水平可能是 RTT 并发严重身体疾病的生物标志物。
