Purpose of the Review <p>This review synthesizes current evidence on the epidemiology, pathophysiology, diagnostic challenges, and treatment strategies for pediatric restless legs syndrome (RLS), highlighting recent advances and research gaps.</p> Recent Findings <p>Emerging genetic and neuroimaging studies reveal roles for brain iron deficiency, dopaminergic dysregulation, and glutamatergic pathways. Novel assessment tools, including pediatric-specific questionnaires and digital phenotyping, are under development. Iron supplementation remains first-line therapy, but robust pediatric trials for pharmacologic and behavioral interventions are scarce.</p> Summary <p> 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 repletion, 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.</p>

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Challenges in the Diagnosis and Treatment of Pediatric Restless Legs Syndrome: A Critical Review

  • Maria Breda,
  • Valeria Mammarella,
  • Ludovico Randazzo,
  • Daniela Polese,
  • Oliviero Bruni

摘要

Purpose of the Review

This review synthesizes current evidence on the epidemiology, pathophysiology, diagnostic challenges, 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 dysregulation, and glutamatergic pathways. Novel assessment tools, including pediatric-specific questionnaires and digital phenotyping, 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 repletion, 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.