Clinical, Sleep, and Chronobiological Characteristics of Children with Smith–Magenis Syndrome Under Treatment for Sleep Disorders.
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 mel...
| Publicado en: | Children Vol. 12; no. 11; pp. 1471 - 1493 |
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| Autores principales: | , , , , , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
MDPI
Nov2025
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=189652504&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 189652504 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 22279067 LW6K jtl: Children issn: 22279067 maglogo: N pubinfo: dt: Nov2025 vid: 12 iid: 11 pid: 97109 pub: MDPI artinfo: ui: 189652504 189652504 189652504 10.3390/children12111471 189652504 ppf: 1471 ppct: 22 formats: tig: atl: Clinical, Sleep, and Chronobiological Characteristics of Children with Smith–Magenis Syndrome Under Treatment for Sleep Disorders. aug: au: Comajuan, Marion Guyon, Aurore Raverot, Véronique Babinet, Marie-Noelle Lioret, Julien Brunel, Lisa Claustrat, Bruno Demily, Caroline Franco, Patricia affil: Service d'Epileptologie Clinique, des Troubles du Sommeil et de Neurologie Fonctionnelle de L'enfant, Hospices Civiles de Lyon, 69677 Bron, France sug: subj: Smith-Magenis Syndrome Symptoms Chronobiology Disorders Symptoms Sleep Disorders Drug Therapy Sleep Melatonin Therapeutic Use Adrenergic beta-Antagonists Therapeutic Use Drug Efficacy Human Male Female Child, Preschool Child Prospective Studies Hospitalization Polysomnography Descriptive Statistics Actigraphy Saliva Analysis Sleep Duration Wilcoxon Rank Sum Test Antipsychotic Agents Methylphenidate Antidepressive Agents Scales Child, Preschool: 2-5 years Child: 6-12 years Male Female ab: 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. 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 melatonin/cortisol profiling were performed. Melatonin and psychostimulants were discontinued 36 h before hospitalization. Results: Overall, 95% of children received melatonin and 20% β-blockers. Despite treatment, insomnia was reported in 90%, excessive daytime sleepiness in 65%, and learning problems in 90%. On actimetry, melatonin improved the mean nocturnal awakening duration (1.4 vs. 2.3 min, p = 0.040), wake-up time (06:50 vs. 06:11, p = 0.004), and longest continuous sleep episode (398 vs. 317 min, p = 0.040), but had little effect on the total sleep time, efficiency, and midpoint of sleep. Very high daytime salivary melatonin persisted (median peak 169.50 pg/mL) despite the last exogenous melatonin intake being more than 48 h prior to sampling, suggesting possible iatrogenic accumulation. The median peak in melatonin occurred at 11:57 and that in cortisol at 08:22. In children with β-blockers, there was a tendency toward an earlier melatonin peak but also toward delayed sleep onset, increased nocturnal awakenings, and reduced total sleep. Conclusions: Children with SMS showed persistent sleep difficulties and an advanced circadian phase despite sleep treatments. Exogenous melatonin provides partial benefit but may lead to daytime accumulation, while β-blockers may have adverse sleep effects despite beneficial effects on melatonin peak secretion, warranting further study. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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