NUTRITIONAL ASPECT OF RETT SYNDROME

RETT 综合征的营养方面

• 批准号: 3757213
• 负责人: KATHLEEN J MOTIL
• 金额: --
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 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/3757213
• 关键词: Rett syndrome; abnormal involuntary movement; bioenergetics; body height; body physical activity; body weight; caloric dietary content; calorimetry; child (0-11); deuterium; developmental nutrition; electrical conductance; female; growth /development; heart rate; human subject; nutrient intake activity; nutrition related tag; postnatal growth disorder; potassium; radiotracer; sleep; statistics /biometry; telemetry; tube feeding; urinalysis; wakefulness

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.

生长失败是RETT综合征的主要并发症。 证据 支持以下假设 能源需求是生长失败的主要原因。 改变 能源平衡的分配，即增加的能量支出 对于非自愿运动活动，是较大的可疑机制 能源需求。 因此，该提议的长期目标是 确定能量平衡分配的机制 Rett Girls已改变并估算其对整体的贡献 这些孩子的能量需求。 该提议的具体目的 是：1）确定女孩的每日能量总消耗是否 患有RETT综合征高于健康女孩，2）确定 是否通过睡眠和 RETT综合征的女孩安静而积极地清醒代谢率 与健康对照组相比，增加了3） RETT综合征女孩的饮食能量摄入是否足够 满足非自愿运动活动的能源需求 健康女孩，4）确定饮食能量是否是 超过测得的总每日能量消耗的金额就足够了 逆转A）生长失败，以高度和体重速度测量， 皮肤折叠厚度和肌肉周长，b）异常 在通过睡觉和快速衡量的能量支出的组成部分中 并在营养干预后积极清醒代谢率 患有RETT综合征的女孩，5）确定是否绝对数量 重复运动活动中消耗的能量比例增加 在患有RETT综合征的女孩的营养康复后。 到 完成这些目标，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 控件。 一年的营养后，还将研究Rett女孩 通过肠管喂养进行康复。 方法：每日总能量 支出和进气口将由氘和180同位素确定 稀释技术和测量的饮食摄入量。 睡眠 将确定静静和积极清醒的代谢率 全身间接量热法。 总体运动运动， 心率和量热法期间的睡眠方式将受到监测 分别通过遥测，雷达检测和多渗透学。 体育锻炼模式将由24小时的活动确定 记录。 身体成分和身材将由全身决定 钾计数，电导率，人体测定法和 体育法法。 意义：此信息将增强我们的 了解饮食能量平衡的分区 体育活动和成长改变的条件，将导致 营养干预和增长逆转的更合理的方法 RETT综合征的女孩逮捕。