Purpose of the Review This review synthesizes current evidence on the epidemiology, pathophysiology, diagnostic chal- lenges, and treatment strategies for pediatric restless legs syndrome (RLS), highlighting recent advances and research gaps. Recent Findings Emerging genetic and neuroimaging studies reveal roles for brain iron deficiency, dopaminergic dysregula- tion, and glutamatergic pathways. Novel assessment tools, including pediatric-specific questionnaires and digital phenotyp- ing, are under development. Iron supplementation remains first-line therapy, but robust pediatric trials for pharmacologic and behavioral interventions are scarce. Summary Pediatric RLS remains a common yet underdiagnosed sensorimotor disorder with significant effects on sleep, neurocognitive development, and quality of life. Diagnosis in children is complicated by age-specific symptom presentation, overlapping conditions, and the absence of definitive biomarkers. A nuanced diagnostic approach integrating clinical history, exclusion of mimics, and targeted use of laboratory and sleep studies is required. Current management relies on iron reple- tion, lifestyle measures, and, in refractory cases, off-label pharmacotherapy. Advances in genetics, neurobiology, and digital health offer opportunities for earlier diagnosis and tailored interventions. Multidisciplinary, pediatric-focused research is essential to improve outcomes and mitigate long-term consequences.
Challenges in the diagnosis and treatment of pediatric restless legs syndrome: a critical review / Breda, Maria; Mammarella, Valeria; Randazzo, Ludovico; Polese, Daniela; Bruni, Oliviero. - In: CURRENT SLEEP MEDICINE REPORTS. - ISSN 2198-6401. - 11:(2025). [10.1007/s40675-025-00349-5]
Challenges in the diagnosis and treatment of pediatric restless legs syndrome: a critical review
Maria Breda;Valeria MammarellaWriting – Original Draft Preparation
;Ludovico RandazzoWriting – Original Draft Preparation
;Daniela PoleseWriting – Original Draft Preparation
;Oliviero Bruni
Writing – Original Draft Preparation
2025
Abstract
Purpose of the Review This review synthesizes current evidence on the epidemiology, pathophysiology, diagnostic chal- lenges, and treatment strategies for pediatric restless legs syndrome (RLS), highlighting recent advances and research gaps. Recent Findings Emerging genetic and neuroimaging studies reveal roles for brain iron deficiency, dopaminergic dysregula- tion, and glutamatergic pathways. Novel assessment tools, including pediatric-specific questionnaires and digital phenotyp- ing, are under development. Iron supplementation remains first-line therapy, but robust pediatric trials for pharmacologic and behavioral interventions are scarce. Summary Pediatric RLS remains a common yet underdiagnosed sensorimotor disorder with significant effects on sleep, neurocognitive development, and quality of life. Diagnosis in children is complicated by age-specific symptom presentation, overlapping conditions, and the absence of definitive biomarkers. A nuanced diagnostic approach integrating clinical history, exclusion of mimics, and targeted use of laboratory and sleep studies is required. Current management relies on iron reple- tion, lifestyle measures, and, in refractory cases, off-label pharmacotherapy. Advances in genetics, neurobiology, and digital health offer opportunities for earlier diagnosis and tailored interventions. Multidisciplinary, pediatric-focused research is essential to improve outcomes and mitigate long-term consequences.| File | Dimensione | Formato | |
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