Rare Pediatric Neurogenetic Disorders: Disability, Functional Impact, and Quality of Life

The rapid development of next-generation sequencing has significantly improved the identification of pathogenic variants underlying rare pediatric neurogenetic disorders. While this progress has enhanced diagnostic precision, clinical management remains largely centered on neurological symptoms, particularly seizures. However, many of these conditions are associated with complex motor, cognitive, behavioral, and sensory impairments that profoundly affect functioning and social participation.Rare pediatric neurogenetic disorders, including genetic developmental and epileptic encephalopathies, are traditionally characterized and managed primarily through seizure control and molecular diagnosis. However, for affected children and their families, the most significant challenges often extend beyond seizures, encompassing severe functional impairment, participation restrictions, and profound impacts on quality of life. Despite advances in genetic testing and targeted therapies, there remains a substantial gap in understanding the real-world functional consequences of these conditions and the multidimensional needs of patients and caregivers.This Research Topic aims to shift the focus from disease-centered metrics to patient- and family-centered outcomes. By integrating perspectives from neurology, genetics, rehabilitation (occupational therapy or physical therapy), and psychology, we seek to promote a more comprehensive understanding of disability, participation, and daily life experiences in rare pediatric neurogenetic disorders. Ultimately, this collection aims to inform clinical practice, guide supportive interventions, and contribute to more holistic models of care.This Research Topic welcomes original research, systematic reviews, scoping reviews, brief reports, case series, qualitative studies, mixed-methods research, and perspective articles addressing disability, functioning, and quality of life in rare pediatric neurogenetic disorders.Topics of interest include, but are not limited to:- Functional profiles and participation outcomes in genetic epileptic encephalopathies and other rare neurogenetic conditions- Health-related quality of life and patient-/caregiver-reported outcome measures- Psychosocial impact and caregiver burden- Multidisciplinary and rehabilitation interventions- Assistive technologies and adaptive strategies- Longitudinal functional trajectories- Transition to adolescence and adulthood- Real-world clinical and community-based experiencesWe particularly encourage interdisciplinary contributions that integrate neurological, genetic, rehabilitation, and psychosocial perspectives, as well as studies that emphasize patient- and family-centered approaches. Topic editors: Cristina García-Bravo, Rebeca Montes-Montes, ELISABET HUERTAS-HOYAS, Sara García-Bravo, Mª Pilar Rodríguez-Pérez, Andrea Martinuzzi, May Christine Malicdan, Sheffali Gulati Source: https://www.frontiersin.org/research-topics/81067/rare-pediatric-neurogenetic-disorders-disability-functional-impact-and-quality-of-life