View clinical trials related to Rett Syndrome.
Filter by:OBJECTIVES: I. Extend current knowledge of the phenotype and natural history of Rett syndrome (RS). II. Continue the search for a cytogenetic and/or DNA marker. III. Study the effects of cholinergic drugs based on preliminary evidence for reduced levels of brain acetylcholine, while continuing supportive care to modify seizures, respiratory abnormalities, and motor disturbances, and improve nutrition, behavior, and learning. IV. Identify targets for future therapeutic interventions, e.g., growth factors, to influence neurologic recovery.
OBJECTIVES: I. Evaluate electrocardiographic parameters, including QT and PR intervals and QRS morphology/duration, across clinical stages in patients with Rett syndrome. II. Characterize abnormalities of cardiac conduction and repolarization. III. Assess arrhythmias, heart rate variability, and autonomic nervous system function in these patients using 24-hour Holter monitoring. IV. Record events believed to represent seizures with video, electroencephalogram (EEG), and polygraph monitoring in patients who have more than 1 clinical seizure every 5 days. V. Characterize these events with respect to clinical manifestations, EEG correlates, and other physiologic data. VI. Determine the frequency of seizures vs. events without electrographic correlates in these patients. VII. Determine whether Rett syndrome patients have characteristic or unique types of seizures and/or an epileptic syndrome.
OBJECTIVES: I. Determine dietary macronutrient intake in children with Rett syndrome and in healthy controls. II. Measure sleeping and awake metabolic rates in various positions, i.e., reclining, sitting, and standing, by whole-room indirect calorimetry and isotope dilution. III. Quantify activity patterns by time-motion studies using 24-hour activity records and 12-hour videotaping. IV. Correlate 24-hour activity patterns with 24-hour heart rate telemetry and short-term oxygen consumption. V. Estimate 24-hour fecal and urinary energy losses. VI. Determine body composition by clinical anthropometry, whole-body potassium counting, and total-body electrical conductance. VII. Calculate apparent energy needs based on measurement of energy intake and expenditure.