NUTRITIONAL ASPECT OF RETT SYNDROME

生长障碍是Rett综合征的主要并发症。 证据 支持膳食能量不足的假设， 能源需求是生长失败的主要原因。 改变 能量平衡的划分，即，能源消耗增加， 不自主运动活动，是更大的怀疑机制， 能源需求。 因此，该提案的长期目标是 确定能源平衡分配的机制， Rett女孩的改变，并估计其对整体的贡献 这些孩子的能量需求。 本提案的具体目标 1）确定女孩每日总能量消耗是否 Rett综合症患者的发病率高于健康女孩，2）为了确定 是否能量消耗的组成部分，通过睡眠和 Rett综合征女孩安静和主动清醒时的代谢率 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是否足够 满足不自主运动的能量需求， 健康女孩，4）确定饮食能量是否是一个 超过测量的每日总能量消耗的量是足够的 逆转a）生长失败，通过身高和体重速度测量， 皮褶厚度和肌肉周长，以及B）异常 在通过睡眠和快速测量的能量消耗成分中， 和积极清醒的代谢率，在营养干预后， 女孩Rett综合征，和5），以确定是否绝对量 在重复性运动活动中消耗的能量比例增加 Rett综合征女孩的营养康复后。 到 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）Rett综合征女孩和2）健康 对照 雷特女孩也将在一年的营养研究后， 通过肠道管饲进行康复。 方法：每日总能量 支出和摄入量将由氘和180同位素决定 稀释技术和测量的膳食摄入量。 睡觉 安静和清醒时的代谢率 同时通过全身间接量热法。 粗大运动， 心率和睡眠模式在热量测定期间将被监测 分别通过遥测、雷达探测和多导睡眠图。 身体活动模式将从24小时活动中确定 记录 身体成分和身材将由整个身体决定 钾计数，电导率，人体测量， 测距法 重要性：此信息将增强我们的 了解膳食能量平衡的分配， 改变身体活动和生长的条件，并将导致 采取更合理的营养干预和扭转增长的办法 Rett综合征的女孩

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.