NUTRITIONAL ASPECT OF RETT SYNDROME

生长障碍是Rett综合征的主要并发症。证据 支持这样一种假设，饮食能量不足相对于 能源需求是增长失败的主要原因。更改后的 能量平衡的划分，即增加的能源支出 对于不自主的运动活动，疑似的机制更大 能源需求。因此，这项提议的长期目标是 确定能源平衡的分配机制 Rett Girls被更改并估计其对整体的贡献 这些孩子的能量需求。这项建议的具体目的 是：1)确定女孩每天的总能量消耗 Rett综合征患者高于健康女孩，2)确定 通过睡眠和睡眠来衡量能量消耗的组成部分 Rett综合征女孩的安静和主动唤醒代谢率 与健康对照组相比增加，3)以确定 Rett综合征女孩的膳食能量摄入量是否充足 与满足非自主运动的能量需求相比 对于健康的女孩，4)确定饮食能量是否 超过测量的每日总能量消耗的量是足够的 为了扭转a)通过身高和体重速度测量的生长失败， 皮褶厚度和肌肉周长，以及b)异常 在通过睡眠和快速睡眠测量的能量消耗的组成部分中 并主动唤醒代谢率，在营养干预后 女孩患有Rett综合征，以及5)确定绝对量是否 在重复运动中消耗的能量比例增加 Rett综合征女孩的营养康复后。至 为了实现这些目标，将研究能量平衡的组成部分 在两组受试者中：1)患有Rett综合征的女孩和2)健康女孩 控制。Rett女孩也将在一年的营养研究后进行研究 通过肠道喂养进行康复治疗。方法：每日总能量 支出和摄入量将由氚和180同位素决定。 稀释技术和测量的膳食摄入量。沉睡 无论是安静地还是积极地醒来，代谢率都将被确定 兼用全身间接量热法。粗大的运动， 将监测量热过程中的心率和睡眠模式 分别通过遥测、雷达探测和多导睡眠监测。 体力活动模式将根据24小时活动确定 唱片。身体成分和身高将由全身决定 钾计数，电导率，人体测量，和 速测法。意义：此信息将增强我们的 对饮食能量平衡分配的认识 体力活动和生长条件的改变，并将导致 营养干预和逆转生长的更合理方法 患有Rett综合征的女孩会被逮捕。

Growth failure is a major complication of Rett syndrome. Evidence supports the assumption that dietary energy insufficiency relative to energy needs is the primary cause of growth failure. Altered partitioning of energy balance, i.e., increased energy expenditure due to involuntary motor activity, is the suspected mechanism of the greater energy needs. Thus, the long-term OBJECTIVE of this proposal is to identify the mechanism by which the partitioning of energy balance in Rett girls is altered and to estimate its contribution to the overall energy requirement of these children. The SPECIFIC AIMS of this proposal are: 1) to determine whether total daily energy expenditure in girls with Rett syndrome is higher than that in healthy girls, 2) to determine whether the components of energy expenditure, measured by sleeping and quietly and actively awake metabolic rates, in girls with Rett syndrome are increased compared with those in healthy controls, 3) to determine whether dietary energy intakes in girls with Rett syndrome are sufficient to meet the energy demands of involuntary motor activity compared with those of healthy girls, 4) to determine whether dietary energy is an amount that exceeds measured total daily energy expenditure is sufficient to reverse a) growth failure, measured by height and weight velocities, skinfold thicknesses, and muscle circumferences, and b) the abnormalities in the components of energy expenditure measured by sleeping and quickly and actively awake metabolic rates, after nutritional intervention in girls with Rett syndrome, and 5) to determine whether the absolute amount of proportion of energy expended in repetitive motor activity increases after nutritional rehabilitation in girls with Rett syndrome. To accomplish these goals, the components of energy balance will be studied in two groups of SUBJECTS: 1) girls with Rett syndrome and 2) healthy controls. Rett girls also will be studied after one year of nutritional rehabilitation via enteral tube feedings. METHODS: Total daily energy expenditure and intakes will be determined by deuterium and 180 isotope dilution techniques and measured dietary intakes, respectively. Sleeping and quietly as well as actively awake metabolic rates will be determined concurrently by whole body indirect calorimetry. Gross motor movement, heart rate, and sleep patterns during calorimetry will be monitored respectively, by telemetry, radar detection, and polysomnography. Physical activity patterns will be determined from 24-hour activity records. Body composition and stature will be determined by whole body potassium counting, electrical conductivity, anthropometry, and stadiometry. SIGNIFICANCE: This information will enhance our understanding of the partitioning of dietary energy balance during conditions of altered physical activity and growth and will lead to a more rational approach to nutritional intervention and reversal of growth arrest in girls with Rett Syndrome.