Publications by authors named "A Percy"
Knowledge of the natural history of deficiency disorder (CDD) is limited to the results of cross-sectional analysis of largely pediatric cohorts. Assessment of outcomes in adulthood is critical for clinical decision-making and future precision medicine approaches but is challenging because of the diagnostic gap and duration of follow-up that would be required for prospective studies. We aimed to delineate the natural history retrospectively from adulthood.
View Article and Find Full Text PDFBackground: Preclinical studies and anecdotal case reports support the potential therapeutic benefit of low-dose oral ketamine as a treatment of clinical symptoms in Rett syndrome (RTT); however, no controlled studies have been conducted in RTT to evaluate safety, tolerability and efficacy.
Design: This was a sequentially initiated, dose-escalating cohort, placebo-controlled, double blind, randomized sequence, cross-over study of oral ketamine in 6-12-year-old girls with RTT to evaluate short-term safety and tolerability and explore efficacy.
Methods: Participants were randomized to either five days treatment with oral ketamine or matched placebo, followed by a nine-day wash-out period and then crossed-over to the opposite treatment.
Background And Aims: Within many alcohol prevention interventions, changes in alcohol-related attitudes (ARA) are often proposed as precursors to changes in drinking behaviour. This study aimed to measure the longitudinal relationship between ARA and behaviour during the implementation of a large-scale prevention trial.
Design And Setting: This study was a two-arm school-based clustered randomized controlled trial.
Rett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder, which affects predominantly females. In most cases, RTT is associated with pathogenic variants in MECP2. MeCP2, the protein product of MECP2, is known to regulate gene expression and is highly expressed in the brain.
View Article and Find Full Text PDFArticle Synopsis
- The study aims to analyze the ages and genetic MECP2 variants of recently identified males, laying the groundwork for further investigation into their clinical characteristics.
- Genetic data were collected from a parent group, focusing on whether MECP2 variants were newly developed or inherited, as well as the prevalence of mosaicism among those meeting Rett syndrome criteria.
- Out of 59 males examined, the majority had de novo variants, and findings emphasize the necessity for improved diagnostic processes and equitable access to therapeutic options for those with MECP2 variants.