Clinical, Sleep, and Chronobiological Characteristics of Children with Smith–Magenis Syndrome Under Treatment for Sleep Disorders
Abstract
Highlights What are the main findings? Children with Smith–Magenis syndrome showed persistent short and poor-quality sleep despite treatment. Very high melatonin levels persisted after treatment withdrawal, suggesting possible iatrogenic accumulation in children receiving very high doses, whose melatonin metabolism (potentially involving slow metabolizers) remains poorly understood. What are the implications of the main findings? Routine monitoring of salivary melatonin and personalized dose titration could optimize treatment, avoid overexposure, and improve both sleep and behavior. Non-pharmacological approaches such as controlled light therapy and other chronobiotic strategies may represent promising complementary or alternative options to improve circadian alignment in SMS. Abstract Background/Objectives: Smith–Magenis Syndrome (SMS) is a rare neurodevelopmental disorder characterized by severe sleep disturbances and an advanced melatonin rhythm. Current treatments, mainly exogenous melatonin and β-blockers, have not been evaluated in children. This study aimed to characterize the clinical, sleep, and chronobiological profiles of children with SMS under treatment and to assess the effects of melatonin and β-blockers. Methods: In this prospective, single-center study, 20 children with genetically confirmed SMS (aged 5–13 years; 55% female) underwent 15-day home actimetry and 48 h hospitalization, during which questionnaires, polysomnography (PSG), and salivary…
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