| Prevalence of sleep problems in Smith-Lemli-Opitz syndrome. | |
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MedLine Citation:
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PMID: 21626671 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic disorder, characterized by multiple congenital anomalies, and intellectual disability. It is caused by a genetically inherited deficiency of the enzyme 7-dehydrocholesterol-delta-7-reductase, which results in increased serum levels of 7-dehydrocholesterol (7-DHC), and decreased levels of cholesterol. This study assesses the prevalence of sleep problems in patients with SLOS. The study group comprised 18 subjects with SLOS, ages 2-31 years (median 10.7 ± 8.5 years). Parents completed several questionnaires (Intake Demographic Form; Pediatric Sleep Questionnaire; Pediatric Daytime Sleepiness Scale). The SLOS subjects had symptoms of sleep-disordered breathing (50% snoring; 66.7% mouth breathing), problems with sleep onset [difficulty falling asleep (61.1%) sleep onset time >30 min (62%)], sleep maintenance [wake up screaming (61.1%), waking up more than twice (44.4%), having trouble falling back to sleep (66.7%), waking up early in the morning (61.1%), and restless sleep (50%)]. The subjects with SLOS needed parents in the room to fall asleep (50%), watch TV or listen to music to fall asleep (44.4%), and described bed sharing (33.3%), indicating sleep-anxiety and sleep-associations. Symptoms of excessive-daytime-sleepiness were frequently reported [un-refreshed in the morning (38.9%), daytime sleepiness (44.4%), and daytime naps (55.6%)]. Parents frequently observed difficulty of organizing tasks (66.7%), and easy distractibility (88.9%). Sleep problems such as sleep-disordered breathing, sleep-related anxiety and sleep associations, disturbed sleep patterns at night, and excessive daytime sleepiness are frequent in children with SLOS. © 2011 Wiley-Liss, Inc. |
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Authors:
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Marcin Zarowski; Martina Vendrame; Mira Irons; Sanjeev V Kothare |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-5-27 |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: - ISSN: 1552-4833 ISO Abbreviation: - Publication Date: 2011 May |
Date Detail:
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Created Date: 2011-5-31 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Wiley-Liss, Inc. |
Affiliation:
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Section of Sleep Medicine, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Children's Hospital, Boston; Harvard Medical School, Boston, Massachusetts; Polysomnography and Sleep Research Unit, Department of Developmental Neurology, Poznan University of Medical Sciences, Poznan, Poland. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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