Publications by authors named "A Ananth"
Introduction: The clinical, research and advocacy communities for Rett syndrome are striving to achieve clinical trial readiness, including having fit-for-purpose clinical outcome assessments. This study aimed to (1) describe psychometric properties of clinical outcome assessment for Rett syndrome and (2) identify what is needed to ensure that fit-for-purpose clinical outcome assessments are available for clinical trials.
Methods: Clinical outcome assessments for the top 10 priority domains identified in the Voice of the Patient Report for Rett syndrome were compiled and available psychometric data were extracted.
A review of neurogenetics in fetal and neonatal clinical medicine.
Semin Fetal Neonatal Med
November 2024
This review of neurogenetics serves as a primer for clinicians practicing in fetal-neonatal medicine. The review provides an update on neurogenetics, understanding the language of genetics, genetic testing approaches, and interpretation of genetic test results. Common examples of neurogenetic disease in fetal-neonatal medicine are used to enhance basic concepts.
View Article and Find Full Text PDFWe discuss a previously healthy adolescent male presenting with subacute neuropsychiatric issues, tremors, hyperreflexia, and hypertension. Laboratory studies revealed acute on chronic kidney disease. Additional investigations yielded a treatable late-onset inborn error of metabolism (IEM).
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.
Article Synopsis
- - RTT is a neurodevelopmental disorder first described in 1966, with significant advancements in understanding and therapy starting with the identification of the MECP2 gene in 1999, which is crucial for diagnosing and understanding the condition.
- - The NIH funded a comprehensive RTT Natural History Study in 2003, collecting vital clinical data from a large RTT population that laid the groundwork for developing therapies and clinical trials.
- - Collaboration with the International Rett Syndrome Foundation has facilitated research initiatives, leading to findings on RTT characteristics, comorbidities, and the development of severity measures that are essential for future clinical applications.