Gastrostomy Placement Improves Height and Weight Gain in Girls With Rett Syndrome

Background: Growth failure and undernutrition complicate the clinical course of girls with Rett syndrome (RTT). These abnormalities are, ill part, the consequence of oral motor dysfunction and inadequate dietary intake. Objective: To determine whether astrostomy placement for nutritional therapy alters the natural history of Growth failure and undernutrition in RTT. Hypothesis: We hypothesized that gastrostomy placement for nutritional therapy reverses the decline in height, weight, and body mass index (BMI) z scores in RTT. Methods: Standard stadiometric and anthropometric measures were obtained to derive height, weight, and BMI 7 scores and estimates of fat-free mass (FFM) and body fat in a cohort of girls (n = 92) with RTT before and after gastrostomy placement. Methyl-CpG-binding protein 2 (MECP2) Mutations and the presence or absence of a fundoplication were recorded. Results: The differences in height (n = 73), weight (it = 8 1). and BMI (n = 81) z score slopes before and after gastrostomy placement were 1.31 + 2.06 (P < 0.001), 2.38 +/- 3.18 (P < 0.001), and 3.25 +/- 3.32 (P < 0.001), respectively. FFM and body fat (n = 43) increased after gastrostomy by 41 +/- 27 g/cm height (P < 0.001) and 7.5% +/- 5.7% body weight (P < 0.001). respectively. The differences in height. weight and BMI z score slopes were similar regardless of the a-e at which the gastrostomy was placed. The differences in height, weight, and BMI 7 score slopes, as well its the change ill FFM and body fat deposition after gastrostomy placement. did not differ between those who did or did not have a fundoplication and among the classes of MECP2 Mutations. Conclusion: gastrostomy placement for aggressive nutritional therapy favorably altered the natural history Of growth failure and undernutrition ill RTT, but did not restore height and weight 7 scores to birth values, regardless of the age at which Surgery Occurred and in the presence or absence of a fundoplication. JPGN 49:237-242, 2009.