When I became a medical doctor in the early 1980s, we established diagnoses in children with neurological disorders by obtaining a history, conducting physical and neurological examinations, performing tests of blood or cerebrospinal fluid, conducting electrophysiological studies, such as electroencephalograms and/or nerve conduction studies, and performing brain computed tomography. In many children, it was extremely challenging to make an accurate diagnosis. Sensing the need for specialized training in child neurology, in the late 1980s I began such training at the National Center of Neurology and Psychiatry in Tokyo, Japan, where I learned about systematic neurological examinations for the first time. In the same period, magnetic resonance imaging became available, facilitating image-informed diagnoses for central nervous system disorders. After the 1990s, genetic diagnoses became possible for some neurological disorders. From 2010, next-generation sequencing developed and became widely used in daily medical practice. Consequently, genetic diagnoses improved remarkably. Over time, many novel treatment methods for children with neurological disorders have been developed. For example, many patients with epilepsy can now be treated effectively with new antiepileptic drugs. Consequently, brain surgery has led to markedly improved outcomes in some children with drug-resistant epilepsy. Many drugs that interact with neurotransmitter functions have been used for neuropsychiatric disorders, especially in controlling hyperactivity. For many neuronal, degenerative, or metabolic disorders, biological molecular causes and mechanisms have been elucidated, and new treatment methods have been developed. Enzyme replacement therapy has been used for the treatment of several congenital metabolic disorders. mTOR inhibitors are quite effective, especially in patients with tuberous sclerosis complex or certain other cortical malformations. Gene-affecting treatment via oligonucleotide therapeutics has been developed for spinal muscular atrophy and proven to be effective in many patients. Oligonucleotide therapeutics have also been used for patients with Duchenne muscular dystrophy and their clinical use has been implemented. In Japan, gene therapy has been employed successfully in patients with aromatic l-amino acid decarboxylase deficiency. A revolution in treatments for children with neurological disorders has commenced and at this pivotal moment, the 62nd Annual Meeting of the Japanese Society of Child Neurology will be hosted in Niigata, Japan on 28th to 30th May 2020. The theme of this meeting is ‘Integrating science, we can find a cure’. Four distinguished international speakers have been invited to discuss various related topics within the field of child neurology: Dr Marjo van der Knaap (the Netherlands), white matter disorders; Dr William Dobyns (USA), malformations of cortical development; Dr Kathryn Swoboda (USA), spinal muscular atrophy; and Dr Hendrik Rosewich (Germany), movement disorders including ATP1A3-related disorders. In addition, many educational lectures, symposia, and other oral and poster presentations will be presented by child neurologists, adult neurologists, neurosurgeons, neuroradiologists, and basic scientists. We will welcome doctors and researchers from many countries worldwide.

中文翻译：

---

整合科学以找到治疗儿童神经病的方法

当我在 1980 年代初成为一名医生时，我们通过获取病史、进行身体和神经系统检查、进行血液或脑脊液检查、进行脑电图和/或神经传导等电生理学研究来确定患有神经系统疾病的儿童的诊断研究，并进行脑计算机断层扫描。在许多儿童中，做出准确的诊断极具挑战性。意识到对儿童神经病学专业培训的必要性，在 1980 年代后期，我在日本东京的国家神经病学和精神病学中心开始了此类培训，在那里我第一次了解了系统的神经学检查。在同一时期，磁共振成像变得可用，促进了中枢神经系统疾病的图像诊断。1990 年代之后，某些神经系统疾病的基因诊断成为可能。从 2010 年开始，新一代测序技术发展并广泛应用于日常医疗实践。因此，基因诊断显着改善。随着时间的推移，已经开发出许多治疗神经系统疾病儿童的新方法。例如，许多癫痫患者现在可以使用新的抗癫痫药物进行有效治疗。因此，脑部手术显着改善了一些患有耐药性癫痫的儿童的预后。许多与神经递质功能相互作用的药物已被用于治疗神经精神疾病，特别是用于控制多动症。对于许多神经元、退行性或代谢性疾病，已经阐明了生物学分子原因和机制，并开发了新的治疗方法。酶替代疗法已被用于治疗几种先天性代谢紊乱。mTOR 抑制剂非常有效，尤其是对结节性硬化症或某些其他皮质畸形的患者。通过寡核苷酸疗法的基因影响治疗已被开发用于脊髓性肌萎缩症，并被证明对许多患者有效。寡核苷酸疗法也已用于杜氏肌营养不良症患者，并已实施其临床应用。在日本，基因治疗已成功用于芳香族 l-氨基酸脱羧酶缺乏症患者。一场针对神经系统疾病儿童的治疗革命已经开始，在这个关键时刻，日本儿童神经病学会第62届年会将于2020年5月28日至30日在日本新泻召开。本次会议的主题是“整合科学，我们可以找到治愈方法”。已邀请四位杰出的国际演讲者讨论儿童神经病学领域的各种相关主题：Marjo van der Knaap 博士（荷兰），白质疾病；William Dobyns 博士（美国），皮质发育畸形；Kathryn Swoboda 博士（美国），脊髓性肌萎缩症；和 Hendrik Rosewich 博士（德国），运动障碍包括 ATP1A3 相关障碍。此外，儿童神经病学家、成人神经病学家、神经外科医生、神经放射学家和基础科学家将进行许多教育讲座、座谈会以及其他口头和海报展示。