Clinical and biological progress over 50 years in Rett syndrome

In the 50 years since Andreas Rett first described the syndrome that came to bear his name, and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) gene, a compelling blend of astute clinical observations and clinical and laboratory research has substantially enhanced our understanding of this rare disorder. Here, we document the contributions of the early pioneers in Rett syndrome (RTT) research, and describe the evolution of knowledge in terms of diagnostic criteria, clinical variation, and the interplay with other Rett-related disorders. We provide a synthesis of what is known about the neurobiology of MeCP2, considering the lessons learned from both cell and animal models, and how they might inform future clinical trials. With a focus on the core criteria, we examine the relationships between genotype and clinical severity. We review current knowledge about the many comorbidities that occur in RTT, and how genotype may modify their presentation. We also acknowledge the important drivers that are accelerating this research programme, including the roles of research infrastructure, international collaboration and advocacy groups. Finally, we highlight the major milestones since 1966, and what they mean for the day-to-day lives of individuals with RTT and their families

Exploring nutrition knowledge and dietary intake of adults with spinal cord injury in specialist rehabilitation

Study design Cross-sectional study. Objectives To explore nutrition knowledge and dietary intake in adults with spinal cord injury (SCI). Setting SCI centre, Australia. Methods A validated General Nutrition Knowledge Questionnaire-R (GNKQ-R) evaluated nutrition knowledge to explore correlations with dietary intake. Dietary intake (current and pre-hospitalisation) was compared with national dietary modelling tools and Nutrient Reference Values (NRV) for assessing nutritional adequacy. Results Fifty participants, predominantly male (70%), with a median age of 50 years took part in the study. The mean GNKQ-R score was 59 (13.1)/85 (69%). Participants with a higher level of education scored higher (82%; p \u3c 0.01). The GNKQ-R score was also positively associated with the level of education (r = 0.45; p = \u3c 0.01) with a large effect size (\u3e0.80 Cohen’s d). Non-conformance with Australian Dietary Guidelines (ADG) and failure to meet NRV were also noted. Low calcium intakes were found in 69% (n = 34) and saturated fatty acid (SFA) consumption exceeded both the acceptable macronutrient distribution range (AMDR) of 10% for adults (n = 32, 65%) and the lower target of 7% recommended for at-risk groups (n = 49, 100%). Lower nutrition knowledge scores were negatively correlated with SFA intake (r = −0.28; p = 0.05, two-tailed) with a large Cohen’s d effect size (\u3e0.80). Conclusions Discordance with the ADG for most food groups was exemplified by high intake of SFA. Individuals with SCI have elevated cardiovascular disease (CVD) risk. Poor nutrition knowledge correlated with high SFA intake, indicates a need for timely, targeted interventions for CVD prevention in this patient group