Rett syndrome diagnostic criteria: lessons from the Natural History Study.

Analysis of 819 participants enrolled in the Rett syndrome (RTT) Natural History Study validates recently revised diagnostic criteria. 765 females fulfilled 2002 consensus criteria for classic (653/85.4%) or variant (112/14.6%) RTT. All participants classified as classic RTT fulfilled each revised main criterion; supportive criteria were not uniformly present. All variant RTT participants met at least 3 of 6 main criteria in the 2002, 2 of 4 main criteria in the current format, and 5 of 11 supportive criteria in both. This analysis underscores the critical role of main criteria for classic RTT; variant RTT requires both main and supportive criteria.

Perceived Internet health literacy of HIV-positive people through the provision of a computer and Internet health education intervention.

OBJECTIVE: The objective of this study was to assess perceived Internet health literacy of HIV-positive people before and after an Internet health information educational intervention. METHODS: We developed a 50-min educational intervention on basic computer skills and online health information evaluation. We administered a demographic survey and a validated health literacy survey (eHEALS) at baseline, immediately after, and 3 months the class. Changes in scores between the surveys were analysed. RESULTS: Eighteen HIV-positive participants were included in the final analysis. Before the intervention, most respondents' assessment of their ability to access Internet health information was unfavourable. Post-intervention, the majority of respondents agreed or strongly agreed they were able to access and identify Internet health information resources. The increase in self-assessed skill level was statistically significant for all eight items eHEALS (P < 0.05). Scores for the 3-month follow-up survey remained higher than pre-intervention scores for most items. CONCLUSIONS: Providing an interdisciplinary brief introductory Internet health information educational intervention HIV-positive people with baseline low perceived Internet health literacy significantly improves confidence in finding and using Internet health information resources. Studies with larger numbers of participants should be undertaken to determine if brief interventions improve self-care, patient outcomes and use of emergency services.

Profiling scoliosis in Rett syndrome.

To understand scoliosis, related comorbidities, and phenotype-genotype correlations in individuals with Rett syndrome (RTT), the Rare Disease Clinical Research Network database for RTT was probed. Clinical evaluations included a detailed history and physical examination, comprehensive anthropometric measurements, and two quantitative measures of clinical status, Clinical Severity Scale (CSS) and motor-behavioral analysis (MBA). All data were exported to the Data Technology Coordinating Center (DTCC) at the University of South Florida. Scoliosis assessment was based on direct examination and curvature measurements by radiography (Cobb angle). Statistical analyses included univariate and multiple logistic regression models, adjusting for age at enrollment or mutation type. Scoliosis data were available from 554 classic RTT participants, mean age = 10 y (0-57 y). Scoliosis was noted in 292 (53%); mean age = 15 y with scoliosis and 6 y without. Using multiple regression analysis, MBA severity score, later acquisition, loss or absent walking, and constipation were associated with scoliosis. Two common methyl-CpG-binding protein 2 (MECP2) mutations, R294X and R306C, had reduced risk for scoliosis. These findings corroborated previous reports on scoliosis and extended understanding of comorbidities, clinical severity, and relative risk reduction for specific mutations. Clinical trial design should account for scoliosis and related factors judiciously.