Neurodevelopmental disorders (NDDs) are a diverse group of chronic conditions that are often underdiagnosed, affecting approximately 1.5% of the global population. These disorders can be particularly severe when linked to the X chromosome, resulting in significant intellectual and physical disabilities that profoundly impact the lives of patients and their families. Despite the identification of over 90 genes on the X chromosome associated with NDDs, there remains a substantial gap in therapeutic development due to limited understanding of gene regulation, protein function, and pathogenesis. Recent studies have highlighted the importance of developing preclinical and translational endpoints, as well as non-invasive biomarkers, to expedite clinical testing. However, a comprehensive patient-centric approach, involving continuous dialogue with the patient community, is crucial for the rapid advancement of new treatments. This research topic seeks to address these gaps by focusing on the latest advancements in understanding and treating X-linked NDDs.
This research topic aims to explore the multifaceted advancements in the study of X-linked neurodevelopmental disorders (NDDs). The primary objectives include elucidating the natural history and phenotypic diversity of these disorders, uncovering novel insights into the genetic and molecular mechanisms underlying them, and advancing preclinical and clinical research to identify potential therapeutic options. By addressing these aims, the research seeks to enhance the understanding of genes-brain-phenotype associations and improve diagnostic, stratification, and treatment strategies for X-linked NDDs.
To gather further insights into the complexities of X-linked NDDs, we welcome articles addressing, but not limited to, the following themes:
- Natural history studies and phenotypic analyses of X-linked NDDs.
- Insights into genes, regulatory mechanisms, proteins, and cellular processes in X-linked NDDs.
- Preclinical and clinical research exploring the pathophysiology of X-linked NDDs.
- Multi-level and translational measures for diagnosis, patient stratification, and therapeutic efficacy assessment.
- Pharmacological and non-pharmacological treatment studies for X-linked NDDs.
- Advocacy for increased public awareness, early intervention, and research funding.
- Inclusion of patient community representatives as co-authors to enhance patient-centric research.
Keywords: x-linked, neurodevelopment disorders, CDKL5, rare disease
Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.
