NEUROBEHAVIORAL STUDIES OF CHILDREN WITH INBORN ERRORS OF METABOLISM

先天性代谢缺陷儿童的神经行为研究

• 批准号: 3738383
• 负责人: WILLIAM L NYHAN
• 金额: --
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN DIEGO
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/3738383
• 关键词: Lesch Nyhan syndrome; behavior test; child behavior disorders; child mental disorders; cognition disorders; developmental neurobiology; galactosemias; heterozygote; human subject; human therapy evaluation; inborn aminoacid metabolism disorder; inborn metabolism disorder; inborn metabolism disorder diagnosis; intelligence tests; language development; language disorders; longitudinal human study; maple syrup urine disease; middle childhood (6-11); neuropsychology; preschool child (1-5); urinalysis

It is the objective of this project to study the development of behavior and language in children with inborn errors of metabolism. A major focus will be on patients with galactosemia, maple syrup urine disease, and organic acidemia, but a full spectrum of children with metabolic disease will be studied. Each patient will be defined as fully from the metabolic point of view as current methodology permits. Where available, therapeutic interventions will permit studies before and after therapy. Each patient will be studied in the Neurologic Core and by magnetic resonance imaging of the brain. Behavioral studies will focus on cognitive development and the acquisition of language. Another goal of this research will be to continue to monitor infants and children entered into other studies in the Center for the presence of metabolic disease. This will be accomplished by the study of the urine with a battery of screening tests, as well as quantitative analysis of amino acids and organic acids.

研究行为的发展是该项目的目的 以及具有代谢错误的儿童的语言。 主要重点 将涉及半乳糖血症，枫糖浆尿液疾病和 有机酸血症，但有多种代谢疾病的儿童 将被研究。 每个患者将完全定义为代谢 视为当前方法允许的观点。 在可用的地方，治疗 干预措施将允许治疗前后研究。 每个患者 将在神经系统核心和通过磁共振成像中进行研究 大脑。 行为研究将侧重于认知发展和 获取语​​言。 这项研究的另一个目标是继续 监视婴儿和儿童进入中心的其他研究 对于存在代谢疾病的存在。 这将由 通过一系列筛查测试研究尿液， 氨基酸和有机酸的定量分析。