Abstract
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.