Medical Management of Pediatric Neurotransmitter Disorders- A Multidisciplinary

描述(申请人提供)：儿童神经递质疾病(PND)是影响儿童和成人中枢神经系统(CNS)的一组不同类型的先天性代谢错误。多巴胺、肾上腺素、5-羟色胺和GABA等神经递质在中枢神经系统活动中起关键作用，包括调节体温和痛阈值、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。识别新的神经递质缺陷的方法越来越多。到目前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：芳香族L氨基酸脱羧酶缺乏症(AADC)、三磷酸鸟苷环水解酶缺乏症(Segawa病或多巴反应性肌张力障碍，GTPCH)、酪氨酸羟化酶缺乏症(TH)、琥珀酸半醛脱氢酶缺乏症(SSADH)和海燕草素还原酶缺乏症(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，确诊病例增加是努力教育医学界了解检测和诊断PND方案的结果。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有关PND医疗管理的教育，是解决目前这一需求的关键。为期1.5天的会议将更新研究人员、临床医生和非专业人员关于PND的最新研究；教育他们现有的治疗方法和未来可能的治疗方法；并让他们参与关于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。与会者将包括新陈代谢、遗传学和神经学领域的科学家、临床医生和其他卫生保健专业人员，以及对PND非常感兴趣的非专业社区成员。由于青年调查员对治疗PNDs的重要性，将鼓励他们的参与，并作出具体努力，促进妇女和少数族裔专业人员的参与。我们还将鼓励子女受到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PND临床管理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会议记录来扩大会议的影响范围，就像第一届儿科神经递质疾病研讨会所做的那样，该研讨会的论文发表在《高影响力神经学年鉴》的附录中。

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.