INDOLEAMINE METABOLISM IN AUTISM AND MENTAL RETARDATION

部分孤独症和弱智儿童血小板5-羟色胺升高 这是文献中反复报道的发现。 的机制 这一发现的基础以及外周血淋巴细胞与 对高胆固醇血症和中枢5-羟色胺代谢了解甚少。 芬氟拉明可能的疗效，据报道，降低血小板血清素 并改善自闭症功能，这使得它特别及时， 血小板高胆固醇血症机制的确定性研究。 一 仔细诊断的一组高血压性自闭症儿童（HSA）将 与年龄、性别和SES匹配的正常血吸虫病患者组进行比较， 自闭症儿童（NSA）、高血压性弱智儿童（HSMR） 和正常的孩子。 血小板5-羟色胺产生的途径， 将在儿童中系统地检查储存和清除情况， 一级亲属中。 HSA和NSA儿童的一个亚组将 进行CSF检查，以确定中枢与外周的关系 血清素代谢 个别儿童的代谢缺陷位点， 他们的家庭成员，并在临床诊断组将 测定 如果在同一个孩子或临床上存在多种缺陷， 组，将建立代谢功能障碍的概况。 芬氟拉明，作为多中心合作项目的一部分，将 对特定人群的自闭症儿童进行治疗。 研究 将解决高胆固醇血症的生化机制， 其家族性或非家族性的性质，临床特征区分 高血压性自闭症与正常血压性自闭症儿童 外周与中枢5-羟色胺代谢的关系及其作用 降低血小板5-羟色胺对自闭症临床症状的影响。

Elevated platelet serotonin in some autistic and mentally retarded children has been a finding repeatedly reported in the literature. The mechanisms underlying this finding and the relationship between peripheral hyperserotonemia and central serotonin metabolism are poorly understood. The possible efficacy of fenfluramine, reported to lower platelet serotonin and improve autistic functioning, makes it particularly timely for a definitive investigation of the mechanisms of platelet hyperserotonemia. A carefully diagnosed group of hyperserotonemic autistic children (HSA) will be compared to age, sex and SES-matched groups of normal serotonemic autistic children (NSA), hyperserotonemic mentally retarded children (HSMR) and normal children. The pathways of platelet serotonin production, storage and clearance will be examined systematically in the children and in their first degree relatives. A subgroup of HSA and NSA children will undergo CSF studies to determine the relationship of central to peripheral serotonin metabolism. Loci of metabolic defects in individual children, their family members, and in the clinical diagnostic groups will be determined. If multiple deficits are present in the same child or clinical group, a profile of metabolic dysfunction will be established. Fenfluramine, as part of multi-center collaborative project, will be administered to a selected population of children with autism. The studies will address the biochemical mechanisms responsible for hyperserotonemia, its familial or non-familial nature, the clinical features distinguishing hyperserotonemic autistic from normoserotonemic autistic children, the relationship of peripheral to central serotonin metabolism and the effects of lowering platelet serotonin on clinical symptoms of autism.