Rett Syndrome (RS) is a progressive neurological disorder which develops in females after apparent normal psychomotor development for the first six months of life. The etiology and pathogenesis of RS are unknown. There is no clearly effective treatment. Concerted laboratory and clinical investigations are essential for the elucidation of this problem. The overall goal of this project is to expand the data base with respect to this syndrome, to clarify our understanding of the individual components of the disorder, and, ultimately, to define the etiologic basis. As such, this project both adds to and receives strength from the other components of the program. The specific objectives of this project concern the study of several clinical manifestations of RS in order to define their character and natural history and to document intervention outcome. Abnormalities of cardiac conduction and repolarization will be evaluated from prospective recordings of ECG. Arrhythmias and heart rate variability will be determined from Holter monitoring in Stage II RS patients and age-matched controls. These non-invasive studies will permit determination of the contribution of the autonomic nervous system to control of these cardiac parameters and to sudden death in RS. Video/EEG/polygraphic monitoring will be performed in RS patients with frequent possible seizures. The character and frequency of seizures vs non-seizure events will be determined. These studies will provide new information regarding RS and ultimately may lead to improvement in the quality of life for RS patients. The data will be correlated with data from other projects to better characterize the clinical expression of RS and gain further insight into the underlying pathophysiology of RS.

Project Start
Project End
Budget Start
Budget End
Support Year
6
Fiscal Year
1993
Total Cost
Indirect Cost
Name
Baylor College of Medicine
Department
Type
DUNS #
074615394
City
Houston
State
TX
Country
United States
Zip Code
77030
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Wan, M; Cravatt, B F; Ring, H Z et al. (1998) Conserved chromosomal location and genomic structure of human and mouse fatty-acid amide hydrolase genes and evaluation of clasper as a candidate neurological mutation. Genomics 54:408-14
Cummings, C J; Dahle, E J; Zoghbi, H Y (1998) Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome. Am J Med Genet 78:176-8
Van den Veyver, I B; Subramanian, S; Zoghbi, H Y (1998) Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome. Am J Med Genet 78:179-81
Motil, K J; Schultz, R J; Wong, W W et al. (1998) Increased energy expenditure associated with repetitive involuntary movement does not contribute to growth failure in girls with Rett syndrome. J Pediatr 132:228-33

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