All ETDs from UAB

Advisory Committee Chair

Suzanne Geerts

Advisory Committee Members

Marian A Brown

Jane Lane

Alan K Percy

Susan Miller

Document Type


Date of Award


Degree Name by School

Master of Science (MS) School of Health Professions


Introduction: Rett syndrome (RTT) is a genetic, neurodevelopmental disorder that displays high incidence of growth failure, variations in body composition, feeding/gastrointestinal complications, and undernutrition. The ongoing Rare Diseases Clinical Research Network (RDNCRN) Rett Syndrome Natural History Research Project has yielded observations regarding the less recognized occurrence of overnutrition in adult females with classic Rett syndrome. The purpose of this study was the determine the prevalence of overweight/obesity in children and young adults with classic Rett syndrome, the percent overweight and obese among adults with classic Rett syndrome, and to determine if the prevalence of overnutrition increases after the puberty years and in to adulthood. Methods: A retrospective review of cross sectional data accumulated in the RDNCRN Rett Syndrome Natural History Research Project was performed, collecting baseline anthropometric measurements of 818 female subjects (age= ≥ 2) with classic Rett syndrome. Participants were dichotomized in to one of three groups, the "child" (age 2-12.00) group, the "young adult" (age 12.01-19.99), or the "RTT women" group which was created for subjects age≥ 20. Frequency of being overweight was tested among children and young adults and was compared using a Chi-Square test and a Fisher's exact test. Mean BMI z-scores of children and young adults were compared in a pairwise fashion, and finally, the frequency of overweight and obesity was examined among RTT women. Statistical significance was determine at p<0.05. Results: No statistical significance was found in the difference in frequency of overweight and obese between children and young adults with RTT. Statistically significant differences were found within the pairwise comparisons of BMI z-scores between the ages of 2.00-3.99 and 10.00 -11.99, between 2.00-3.99 and 14.00-15.99, and between 4.00-5.99 and 14.00-15.99. Among RTT women, 13.64% were overweight and 0% were obese. Conclusion: This analysis of data concluded that there is no difference in prevalence of overweight and obesity among children and young adults with classic RTT and no identifiable pattern in changes of BMI z-scores was found as age progressed across these groups.



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