Rett Syndrome Clinical Trial
Official title:
A Systematic Metabolic Approach to the Evaluation of Nutrition in Rett Syndrome According to the Cardiorespiratory Phenotype in Dutch Rett Girls
Rett syndrome (RTT) is an X-linked severe neurodevelopmental disorder. Despite their good
appetite, many females with RTT meet the criteria for moderate to severe malnutrition. The
pathological mechanism is barely understood. Although feeding difficulties may play a part
in this, other constitutional factors as altered metabolic processes are suspected.
Irregular breathing is a common clinical feature, reflecting the immaturity of the brainstem
in RTT. The primary pathophysiology is a defective control mechanism of carbon dioxide
exhalation that leads to chronic respiratory alkalosis or acidosis. We assume that chronic
respiratory acidosis or alkalosis causes derangement of the metabolic equilibrium in RTT
females with important nutritional consequences.
The aims of this pilot study are to describe the nutritional status of the RTT girls and to
examine the consequences of a chronic respiratory acidosis or alkalosis on metabolic
processes as a possible cause of impaired nutritional status.
n/a
Time Perspective: Cross-Sectional
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