MOLECULAR AND NEURODEVELOPMENTAL ANALYSIS OF ANEUSOMY 18q SYNDROME

18号染色体长臂的一部分缺失(18q综合征)是影响人类的最常见的新生血管疾病之一。尽管缺失的大小各不相同，但受影响的儿童有共同的临床特征，如身材矮小和智力低下。这项研究所基于的假设是，中枢和外周神经系统的髓鞘形成时间发生变化，继而只有一个髓鞘碱性蛋白基因拷贝；这导致下丘脑垂体轴失调和生长激素分泌不足。异常的荷尔蒙环境进一步延缓了髓鞘形成，从而加剧了神经发育异常，并导致了严重的精神发育迟缓。本研究的目的是观察生长激素治疗在直线生长速度、下丘脑/垂体功能、中枢神经系统髓鞘形成程度、听力和神经发育成熟等方面是否有有益的影响。

Deletion of a portion of the long arm of chromosome 18 (18q- syndrome) is one of the most common aneusomies to affect humans. Although the size of the deletion is variable, affected children share common clinical features such as short stature and mental retardation. The hypothesis on which this study is based is that there are alterations in the timing of myelination of central and peripheral nervous systems secondary to having only a single copy of the gene for myelin basic protein; this leads to disregulation of the hypothalamic pituitary axis and underproduction of GH. The abnormal hormonal milieu further retards myelination which exacerbates neurodevelopmental abnormalities and contributes to the severity of the mental retardation. The purpose of this study is to examine whether GH treatment has beneficial effects in such areas as the rate of linear growth, hypothalamic/pituitary function, the degree of CNS myelination, hearing, and neurodevelopmental maturation.