UOC di Neuropsichiatria Infantile, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Roma, Italy.
Gruppo Famiglie Dravet APS, Italy.
Epilepsy Behav. 2024 Aug;157:109888. doi: 10.1016/j.yebeh.2024.109888. Epub 2024 Jul 10.
Dravet syndrome, a developmental and epileptic encephalopathy, manifests with varying degrees of cognitive and communication impairment, postural and movement disorders (such as ataxia, coordination issues, and crouch gait) and behavioural challenges (including attention deficit/hyperactivity, oppositional/defiant behaviour, and autistic traits). Rehabilitation is a valuable tool for most patients, typically prescribed to address the most pressing issues. However, current practices often fall short in proactively preventing and treating known challenges associated with the syndrome, as indicated by the latest literature, at different life stages. Furthermore, there is a notable lack of evidence regarding treatment types and efficacy specific to people with Dravet Syndrome. Conducted in collaboration with one of the Italian Patient associations, this national survey provides a comprehensive view of the rehabilitation landscape in Dravet Syndrome, as perceived by caregivers. It outlines the types of treatments for 51 patients, based on age and relevant clinical features. The findings reveal a heterogenous rehabilitation approach, only partly tailored to the presence of specific comorbidities, and underline numerous unmet needs. Compared to the past there is indirect evidence that more patients are offered early rehabilitation. Nonetheless, while nowadays speech therapy and neuropsychomotor therapy are nearly universal for children up to the age of 10, some begin physiotherapy and psychotherapy thereafter, with a majority discontinuing treatments. Therefore, families of adolescent and adult patients often face a lack of comprehensive support, predominantly offered when epilepsy is more challenging to control affecting rehabilitation adherence and effectiveness. Finally, a negligible minority is offered treatments such as neurovisual training, augmentative and alternative communication, and occupational therapy. Many of these considerations could apply to other developmental and epileptic encephalopathy with lifelong disability. This survey calls for more data collection on this important topic for more efficient allocation of rehabilitation resources.
德拉韦综合征是一种发育性和癫痫性脑病，表现为不同程度的认知和沟通障碍、姿势和运动障碍（如共济失调、协调问题和蹲伏步态）以及行为挑战（包括注意力缺陷/多动、对立/反抗行为和自闭症特征）。康复是大多数患者的宝贵工具，通常用于解决最紧迫的问题。然而，正如最新文献所示，目前的实践在主动预防和治疗与该综合征相关的已知挑战方面往往做得不够，在不同的生命阶段都是如此。此外，关于特定于德拉韦综合征患者的治疗类型和疗效的证据也明显不足。这项全国性调查是与意大利患者协会之一合作进行的，它提供了一个全面的视角，让人们了解照顾者对德拉韦综合征康复状况的看法。它根据年龄和相关临床特征，为 51 名患者列出了各种治疗方法。研究结果显示，康复方法存在异质性，仅部分针对特定的合并症进行了调整，并强调了许多未满足的需求。与过去相比，有间接证据表明，更多的患者接受了早期康复。尽管如此，尽管现在言语治疗和神经心理运动疗法在 10 岁以下的儿童中几乎普遍应用，但一些儿童在那之后开始接受物理治疗和心理治疗，大多数儿童在那之后停止治疗。因此，青少年和成年患者的家庭经常面临缺乏全面支持的问题，这种情况主要在癫痫更难以控制、影响康复依从性和效果时出现。最后，只有极少数患者接受神经视觉训练、辅助和替代沟通以及职业治疗等治疗。这些考虑因素中的许多可能适用于其他具有终身残疾的发育性和癫痫性脑病。这项调查呼吁收集更多关于这一重要主题的数据，以便更有效地分配康复资源。
