A study of the treatment of Rett syndrome with folate and betaine.

We tested the hypothesis that increasing methyl-group pools might promote transcriptional repression by other methyl-binding proteins or by mutant methyl-CpG-binding protein 2 with altered affinity, ameliorating the clinical features of Rett syndrome. A 12-month, double-blind, placebo-controlled folate-betaine trial enrolled 73 methylCpG-binding protein 2 mutation positive female participants meeting consensus criteria for Rett syndrome. Participants were randomized as young (< age 5 years) or old (>or= age 5 years). Structured clinical assessments occurred at baseline, 3, 6, and 12 months. Primary outcome measures included quantitative evaluation of breathing and hand movements during wakefulness, growth, anthropometry, motor/behavioral function, and qualitative evaluations from electroencephalograms and parent questionnaires. In all, 68 participants completed the study. Objective evidence of improvement was not found. Subjective improvement from parent questionnaires was noted for the <5 years group. This study should inform future treatment trials regarding balancing participants with specific mutations and comparable severity to minimize selection bias.

Effects of long-term psychostimulant medication on growth of children with ADHD.

The objective was to assess the effects of long-term psychostimulant medication on growth parameters in children with attention deficit hyperactivity disorder (ADHD). Eighty-nine children diagnosed with ADHD treated by prescribed psychostimulant medications were followed with repeated growth measures over a 3 years duration. Anthropometric measurements were recorded at baseline, 3, 6, 12, 24, and 36 months. Medical records were reviewed for demographic information, medication side effects and appetite suppression. Body mass index (BMI) and z-scores were determined at each follow up visit. Descriptive and analytical analyses by repeated measures analysis of varianc were performed. Significant weight loss was documented mostly during the first few months of treatment with stimulants. Although z-scores for weight showed significant changes over the 2 years of treatment, further analysis of the changes did not reach clinical significance. BMI growth was within normal limits throughout the duration of treatment. Baseline weight predicted weight loss for heavier children only. Pre-pubertal children were more subject to weight loss than children during puberty, as well as children for which appetite suppression was reported. No long-term impact on height was noted. Different stimulant medication did not differ in their effects on growth. Generally, parents and providers can be reassured that growth changes with long-term stimulant therapy are not clinically significant for a diverse group of children with ADHD.