Nutritional Aspects of Rett Syndrome

This study has been completed.
Baylor College of Medicine
Information provided by:
Office of Rare Diseases (ORD) Identifier:
First received: February 24, 2000
Last updated: June 23, 2005
Last verified: February 1999

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.

Condition Intervention
Rett Syndrome
Procedure: Metabolic assessment with body composition evaluation

Study Type: Interventional
Study Design: Primary Purpose: Diagnostic

Resource links provided by NLM:

Further study details as provided by Office of Rare Diseases (ORD):

Study Start Date: May 1993
Detailed Description:


All participants undergo extensive nutritional and metabolic assessment with body composition evaluation. Studies include macronutrient intake, body fat, lean muscle mass, metabolic rate, and time-action studies; and 24-hour cardiac telemetry. Rett syndrome girls also receive a hemogram and hand x-ray.


Ages Eligible for Study:   5 Years to 18 Years
Genders Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes


Patients aged 5 to 18 with Rett syndrome Able to sleep and awaken alone

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Please refer to this study by its identifier: NCT00004656

Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Baylor College of Medicine
Study Chair: Kathleen J. Motil Baylor College of Medicine
  More Information Identifier: NCT00004656     History of Changes
Other Study ID Numbers: 199/11814  BCM-CNRC-H1637 
Study First Received: February 24, 2000
Last Updated: June 23, 2005
Health Authority: United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):
Rett syndrome
neurologic and psychiatric disorders
rare disease

Additional relevant MeSH terms:
Rett Syndrome
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Heredodegenerative Disorders, Nervous System
Intellectual Disability
Mental Retardation, X-Linked
Nervous System Diseases
Neurobehavioral Manifestations
Neurologic Manifestations processed this record on May 30, 2016