Prevalence of sleep problems in Smith‐Lemli‐Opitz syndrome

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.

Sleep and Sleep Disorders in Rare Hereditary Diseases: A Reminder for the Pediatrician, Pediatric and Adult Neurologist, General Practitioner, and Sleep Specialist

“…This AR rare syndrome (OMIM #270400) affects 1:20,000–80,000 live born American Caucasian infants who present with variable clinical features and severity (51). The typical phenotype is a child with characteristic peculiar facial appearance, cleft palate, microcephaly, hypotonia, cardiac defects, prenatal and postnatal growth retardation, postaxial polydactyly, two to three toe syndactyly, and hypogenitalism.…”

“…In 1998, an abnormal sleep pattern was reported in a significant number of affected children diagnosed on clinical basis (53). More recently, a systematic evaluation of sleep characteristics in 18 patients with biochemical confirmation of the diagnosis disclosed the presence of nocturnal snoring in half of the patients, labored breathing in 11%, a variety of abnormal sleep behavior abnormalities, and excessive daytime sleepiness (51). …”

Pathogenesis, epidemiology, diagnosis and clinical aspects of Smith–Lemli–Opitz syndrome

“…Autistic traits, in addition to mild to moderate intellectual disability contribute to the typical behavioral phenotype [31,32]. Abnormal sleep patterns with difficulty settling, frequent night awakening, and early morning awakenings are often noted by parents [33]. A correlation between the severity of the cholesterol synthesis defect and the biological genesis of challenging behavior has been described [34].…”

A koleszterin-bioszintézis veleszületett zavara: a Smith–Lemli–Opitz-szindróma

“…Az SLO-szindróma gyakran autisztikus magatartászavarral társul (~50%-ban) [30]. Jellemző a súlyos alvászavar, ami az alvásigény igen kifejezett csökkenésében (ez egyes esetekben csupán 2-3 óra éjszakai alvást jelent), elalvási nehézségben és gyakori ébredésekben nyilvánul meg [31].…”