The specific aim of this project is to evaluate the nature of communication skills in patients with Rett Syndrome. Our focus is two-fold: to investigate 1) the basic nature of the disordered communication and 2) how developmental and intervention-related changes affect communication skills. We propose to carry out behavioral assessment of speech and language skills in an effort to delineate the fundamental nature of disordered communication and the status of residual function. In addition, we propose to carry out electrophysiologic and electroacoustic evaluation of the auditory system to quantify the extent of sensory and perceptual involvement as contributing factors to communication disorder. Experimental subjects will be 70 patients with a diagnosis of Rett Syndrome and 12 control patients with a diagnosis of autism. All subjects will receive a complete speech and language evaluation and a complete audiological evaluation, including behavioral audiometry, immittance audiometry, and evoked potential audiometry. In addition, a smaller group of patients (N=24) will be evaluated as part of a drug treatment regimen. Initial, baseline evaluation will be followed by electrophysiologic evaluation during an acute treatment stage. A double-blind, crossover design will be used for the chronic treatment stage. Full evaluation will be carried out after four months of treatment with one drug, after a one month """"""""wash-out"""""""" period, and, again, after four months of treatment with another drug. Longitudinal studies will be carried out on a yearly basis over a five-year period on 30 patients. Additionally, all subjects who pass from one classification stage to another will be evaluated following the classification change. The significance of this project lies in its contribution to the understanding of disorder communication related to Rett Syndrome. We may be able to define precise behavioral, electroacoustic, and electrophysiologic patterns that characterize development of the disorder and that provide evidence for benefit from pharmacologic intervention.

Project Start
Project End
Budget Start
Budget End
Support Year
3
Fiscal Year
1990
Total Cost
Indirect Cost
Name
Baylor College of Medicine
Department
Type
DUNS #
074615394
City
Houston
State
TX
Country
United States
Zip Code
77030
Motil, Kathleen J; Schultz, Rebecca J; Abrams, Steven et al. (2006) Fractional calcium absorption is increased in girls with Rett syndrome. J Pediatr Gastroenterol Nutr 42:419-26
Armstrong, D D; Assmann, S; Kinney, H C (1999) Early developmental changes in the chemoarchitecture of the human inferior olive: a review. J Neuropathol Exp Neurol 58:1-11
Motil, K J; Schultz, R J; Browning, K et al. (1999) Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome. J Pediatr Gastroenterol Nutr 29:31-7
Glaze, D G; Schultz, R J; Frost, J D (1998) Rett syndrome: characterization of seizures versus non-seizures. Electroencephalogr Clin Neurophysiol 106:79-83
Armstrong, D D; Dunn, K; Antalffy, B (1998) Decreased dendritic branching in frontal, motor and limbic cortex in Rett syndrome compared with trisomy 21. J Neuropathol Exp Neurol 57:1013-7
Schultz, R; Glaze, D; Motil, K et al. (1998) Hand and foot growth failure in Rett syndrome. J Child Neurol 13:71-4
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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