BRAIN AND TISSUE BANK FOR DEVELOPMENTAL DISORDERS

该项目的目标是系统地收集和分发 高质量的活组织检查和/或“未受影响”的新鲜身体组织 (对照)个人和被诊断为患有 已知或未知形式的精神发育迟滞、发育障碍、 或死于婴儿猝死综合征(SID)的婴儿。在这些人中 将从哪里获得样本的条件包括 染色体缺陷、线粒体肌脑病、苯丙酮尿症和 其他氨基酸病，有机酸尿症，母体PKU，Rett综合征， 脑白质营养不良、溶酶体储存障碍、阅读障碍、自闭症和其他 神经发育障碍。储存库将作为一项研究 为合格调查人员提供的资源，以支持和促进研究 这将导致对病因、病理学、 疾病的发病机制和临床-病理相关性 与小儿麻痹症、智力低下、学习和行为有关 赤字。由于存储库将在以下位置收集正常和异常大脑 出生前和出生后不同的发育阶段，它也可以提供 脑发育和脑发育的纵向研究材料 畸形。

The objective of this project is to systematically collect and distribute high quality biopsy and/or freshly autopsied tissues from "unaffected" (control) individuals and from patients who had been diagnosed to have a known or unknown forms of mental retardation, developmental disabilities, or infants who die of sudden infant death syndrome (SIDS). Among the conditions from whom specimens will be obtained include those with chromosome defects, mitochondrial myoencephalopathies, phenylketonuria and other aminoacidopathies, organic acidurias, maternal PKU, Rett syndrome, leukodystrophies, lysosomal storage disorders, dyslexia, autism, and other neurodevelopmental disorders. The repository will serve as a research resource for qualified investigators to support and facilitate research that will lead to an improved understanding of the etiology, pathology, pathogenesis, and clinical-pathological correlation of conditions that are associated with SIDS, mental retardation, learning and behavioral deficits. Since the repository will collect normal and abnormal brains at various prenatal and postnatal stages of development, it can also provide material for the longitudinal studies of brain development and its malformations.