Medical Management of Pediatric Neurotransmitter Disorders- A Multidisciplinary

描述（由申请人提供）：小儿神经递质疾病（pnd）是一种影响儿童和成人中枢神经系统（CNS）的先天性代谢错误的异质组。神经递质如多巴胺、肾上腺素、血清素和氨基丁酸在中枢神经系统活动中至关重要，包括调节体温和痛觉阈值、控制行为和运动功能、神经元兴奋和抑制、记忆和许多其他身体过程。新的神经递质缺陷的识别正在增长。迄今为止最准确定义和描述的pnd以及将在本次会议上讨论的pnd包括：芳香L-氨基酸脱羧酶缺乏症（AADC），鸟苷三磷酸环水解酶缺乏症（Segawa病或多巴反应性肌痉挛障碍，GTPCH），酪氨酸羟化酶缺乏症（TH），丁二半醛脱氢酶缺乏症（SSADH）和sepapterin还原酶缺乏症（SR）。虽然被认为是罕见的，但这些疾病的发病率正在上升。在某种程度上，诊断病例的增加是旨在教育医学界关于PNDs检测和诊断规程的努力的结果。随着确诊病例数量的增加，迫切需要进行早期和知情的临床干预。召开一次会议，对科学家、临床医生和非专业人员进行关于pnd医疗管理的教育，对于目前解决这一需求至关重要。为期1.5天的会议将向研究人员、临床医生和非专业人员介绍目前关于pnd的研究；教育他们了解现有的治疗方法和未来可能的治疗方法；让他们参与多学科治疗策略的重点讨论。我们希望在2002年介绍性会议的基础上取得实质性进展。与会者将包括科学家、临床医生和其他代谢、遗传学和神经学领域的卫生保健专业人员，以及对pnd有积极兴趣的非专业社区成员。由于青年研究人员对治疗精神病的重要性，将鼓励他们的参与，并作出具体努力，促进妇女和少数民族专业人员的参与。我们还将鼓励子女受pnd影响的父母出席，因为他们的观点对了解这些疾病非常有价值。这次会议将成为加强对pnd临床管理的教育和发展治疗进展的工具。我们的目的是通过在期刊上发表论文集来扩大会议的影响范围，就像在第一届儿科神经递质疾病研讨会上所做的那样，该研讨会的论文发表在高影响力的《神经病学年鉴》的增刊上。

DESCRIPTION (provided by applicant): Pediatric neurotransmitter diseases (PNDs) are a heterogeneous group of inborn errors of metabolism affecting the central nervous system (CNS) in children and adults. Neurotransmitters such as dopamine, epinephrine, serotonin and GABA are critical in CNS activities that include regulation of body temperature and pain threshold, control of behavior and motor function, neuronal excitation and inhibition, memory, and many other body processes. The identification of new neurotransmitter defects is growing. The most accurately defined and described PNDs to date and those that will be discussed at this conference include: aromatic L- amino acid decarboxylase deficiency (AADC), guanosine triphosphate cyclohydrolase deficiency (Segawa's disease or DOPA-responsive dystonia, GTPCH), tyrosine hydroxylase deficiency (TH), succinic semialdehyde dehydrogenase deficiency (SSADH), and sepiapterin reductase deficiency (SR). Although considered rare, the incidence of these diseases is on the rise. In some part, that rise in diagnosed cases is the result of efforts directed at educating the medical community on protocols for the testing and diagnosis of PNDs. With the increased number of diagnosed cases, an urgent need has developed for early and informed clinical intervention. A conference to educate scientists, clinicians and lay persons on the medical management of PNDs is critical to addressing that need at this time. The 1.5-day conference will update researchers, clinicians, and lay persons on current research on PNDs; educate them on existing treatments and potential future treatments; and engage them in a focused discussion on multidisciplinary treatment strategies. We expect to build substantially on our introductory conference of 2002. Attendees will include scientists, clinicians, and other health care professionals in the areas of metabolism, genetics, and neurology, as well as lay community members who have an active interest in PNDs. Because of the importance of young investigators to the treatment of PNDs, their involvement will be encouraged with specific efforts made to facilitate the participation of women and minority professionals. We also will encourage the attendance of parents whose children are affected by PNDs as their perspectives are immensely valuable to understanding these diseases. The conference will serve as a vehicle for enhancing education on clinical management of PNDs and for the development of treatment advances. Our intent is to extend the reach of the conference through the publication of the proceedings in a journal as done with the First Symposium on Pediatric Neurotransmitter Diseases, which had papers published in a supplement to the high-impact Annals of Neurology.