ArticleAmerican journal of medical genetics. Part A2009
Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion.
Article in American journal of medical genetics. Part A, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
19 citing papers in PubMed, 91 citations in OpenAlex.
- Sleep disorders in children with Smith-Magenis Syndrome - a neurodevelopmental disorder with sleep-wake-rhythm-dysfunction - recommendations for pediatricians.Sleep & breathing = Schlaf & Atmung · 2026Review
- A Clinical Practice Example of Smith-Magenis Syndrome in the Neuropediatric Clinic: Etiology, Clinical Presentation, Diagnostics and Therapeutic Approaches-A Case Report.Children (Basel, Switzerland) · 2026Article
- The developmental trajectory of sleep in children with Smith-Magenis syndrome compared to typically developing peers: a 3-year follow-up study.Sleep advances : a journal of the Sleep Research Society · 2023Article
- Review
- Smith-Magenis Syndrome: Molecular Basis of a Genetic-Driven Melatonin Circadian Secretion Disorder.International journal of molecular sciences · 2019Review
- De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.Genome medicine · 2019Article
- Twenty-four-hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith-Magenis syndrome, a neurodevelopmental disorder.American journal of medical genetics. Part A · 2019Article
- Rhythms of life: circadian disruption and brain disorders across the lifespan.Nature reviews. Neuroscience · 2019Review
- Auditory Phenotype of Smith-Magenis Syndrome.Journal of speech, language, and hearing research : JSLHR · 2017Article
- Review
- Review
- Sleep Complaints and the 24-h Melatonin Level in Individuals with Smith-Magenis Syndrome: Assessment for Effective Intervention.CNS neuroscience & therapeutics · 2016Article
- First Case Report of Smith-Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview.Medicine · 2016Article
- Congenital scoliosis in Smith-Magenis syndrome: a case report and review of the literature.Medicine · 2015Review
- Melatonin and the skeleton.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2013Review
- Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1.American journal of medical genetics. Part A · 2013Article
- Treatment of dyssomnias and parasomnias in childhood.Current treatment options in neurology · 2012Article
- Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity.American journal of human genetics · 2012Article
- Diagnostic utility of daytime salivary melatonin levels in Smith-Magenis syndrome.American journal of medical genetics. Part A · 2010Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
Smith-Magenis syndrome (SMS) is a disorder characterized by multiple congenital anomalies and behavior problems, including abnormal sleep patterns. It is most commonly due to a 3.5 Mb interstitial deletion of chromosome 17 band p11.2. Secretion of melatonin, a hormone produced by the pineal gland, is the body's signal for nighttime darkness. Published reports of 24-hr melatonin secretion patterns in two independent SMS cohorts (US and France) document an inverted endogenous melatonin pattern in virtually all cases (96%), suggesting that this finding is pathognomic for the syndrome. We report on a woman with SMS due to an atypical large proximal deletion ( approximately 6Mb; cen<->TNFRSFproteinB) of chromosome band (17)(p11.2p11.2) who presents with typical sleep disturbances but a normal pattern of melatonin secretion. We further describe a melatonin light suppression test in this patient. This is the second reported patient with a normal endogenous melatonin rhythm in SMS associated with an atypical large deletion. These two patients are significant because they suggest that the sleep disturbances in SMS cannot be solely attributed to the abnormal diurnal melatonin secretion versus the normal nocturnal pattern.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.