title: Sleep disturbances in Angelman syndrome: a questionnaire study.
abstract: Only few studies are available on sleep disorders in Angelman syndrome (AS), a neurodevelopmental disorder with several behavior disturbances. The aim of this study was to determine the prevalence of sleep disorders in a relatively large group of AS subjects, compared to that of age-matched controls. Forty-nine consecutive parents of patients with AS (26 males and 23 females aged 2.3-26.2 years) were interviewed and filled out a comprehensive sleep questionnaire. Based on their genetic etiology, four groups were defined: deletion of chromosome 15q11-13 (25 subjects); methylation imprinting mutation (six subjects), UBE3A mutations (seven subjects) and paternal uniparental disomy (five subjects). In the remaining cases genetic testings were negative. A significantly high frequency of disorders of initiating and maintaining sleep, prolonged sleep latency, prolonged wakefulness after sleep onset, high number of night awakenings and reduced total sleep time were found in our AS patients, as compared to age-matched controls. We also found other types of sleep disorders, never reported before, such as enuresis, bruxism, sleep terrors, somnambulism, nocturnal hyperkinesia, and snoring. No differences were found between the four genetic aetiology groups. Moreover, we did not find important improvement of sleep disturbances from pre-pubertal to post-pubertal ages. Our data confirm the significant presence of sleep/wake rhythms fragmentation, peculiar of AS, and also demonstrate the presence of several other types of sleep disturbances in this syndrome.
authors.affiliation: Center for Pediatric Sleep Disorders, Department of Developmental Neurology and Psychiatry, University of Rome La Sapienza, Via dei Sabelli 108, 00185 Rome, Italy. oliviero.bruni@uniroma1.it
authors.forename: Oliviero
authors.initials: O
authors.lastname: Bruni
authors.forename: Raffaele
authors.initials: R
authors.lastname: Ferri
authors.forename: Gaetana
authors.initials: G
authors.lastname: D'Agostino
authors.forename: Silvia
authors.initials: S
authors.lastname: Miano
authors.forename: Michele
authors.initials: M
authors.lastname: Roccella
authors.forename: Maurizio
authors.initials: M
authors.lastname: Elia
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D017204:Angelman Syndrome / Q000453:epidemiology* / Q000235:genetics / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D015897:Comorbidity; D019175:DNA Methylation; D005260:Female; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D009154:Mutation / Q000235:genetics; D015995:Prevalence; D012016:Reference Values; D012890:Sleep / Q000235:genetics; D012893:Sleep Wake Disorders / Q000453:epidemiology* / Q000235:genetics / Q000503:physiopathology; D011795:Surveys and Questionnaires; D044767:Ubiquitin-Protein Ligases / Q000235:genetics; D024182:Uniparental Disomy / Q000235:genetics; D014851:Wakefulness / Q000235:genetics
chemical_list: C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases