Sleep in Angelman syndrome: A review of evidence (original) (raw)
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Sleep disturbance in adults with Angelman syndrome
Sleep and Biological Rhythms, 2008
Angelman syndrome is a neurodevelopmental disorder characterized by severe learning difficulties, epilepsy, and a typical behavioral phenotype. The diagnostic criteria state that 20-80% of individuals have decreased sleep need and abnormal sleep-wake cycles. A wide variety of sleep problems have been reported, including reduced total sleep time, frequent night awakenings and nocturnal enuresis. Most previous reports have used sleep questionnaires to assess the frequency of various sleep disorders. Most patients studied have been children or adolescents and only one previous study has used complex sleep studies (polysomnography). We report three adult sisters with Angelman's syndrome who have been assessed with sleep diaries, actigraphy and, in one case, overnight polysomnography. Despite sleep diaries showing prolonged sleep with a mean of 9 h a night with few nocturnal arousals, the actigraphy in all three patients showed increased sleep fragmentation and in one the polysomnography was strikingly abnormal, with a greatly reduced total sleep time and very frequent, predominantly obstructive sleep apneas fragmenting night sleep (desaturation index 63.3 of total sleep time). Despite over 10 h in bed, she had only 69.5 min of actual sleep. There was no evidence of a circadian rhythm disorder. This is the first report of polysomnography in an adult with Angelman syndrome and it highlights the need to look for the presence of sleep apnea in this group, which may be an under-recognized cause of nocturnal sleep disturbance.
Sleep disturbances in Angelman syndrome: a questionnaire study
2004
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. Fourty-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. q
American Journal of Medical Genetics Part A, 2020
The objectives of this study were to characterize the sleep habits of 50 clinically referred individuals with Angelman syndrome (AS) and to retrospectively compare the effectiveness/tolerability of the three most commonly prescribed sleep medications in the sample. An experienced physician assigned a Clinical Global Impressions‐Severity scale (CGI‐S) score for each subject's AS‐specific symptoms. Caregivers completed the Child Sleep Habits Questionnaire (CSHQ; screen for sleep problems in school‐aged [4–10 years] children), a screening assessment for sleep problems. Caregivers provided information about medication trials targeting disturbed sleep, with the physician assigning a CGI‐Improvement scale (CGI‐I) score for each trial. Linear regression showed significant negative association between age and CSHQ score. In their lifetime, 72% of participants had taken a medication for sleep, most commonly melatonin, clonidine and trazodone. The majority continued these for 6 months or ...
Sleep polygraphy in Angelman syndrome
Objective: Sleep disturbances are frequent in Angelman syndrome (AS); however, beside the few studies which have investigated sleep disorders in AS by means of questionnaires, to our knowledge, no systematic polysomnographic recordings have been carried out in AS patients. The present study represents the first attempt to study sleep patterns of AS by polysomnography, to evaluate the influences of sleep on the paroxysmal electroencephalogram (EEG) patterns of AS and to assess the eventual age-related changes of sleep architecture and of sleep EEG abnormalities in children and adolescents with AS.
Are there distinctive sleep problems in Angelman syndrome?
Sleep Medicine, 2008
Angelman syndrome is a neurogenetic condition characterized by developmental delay, absence of speech, motor impairment, epilepsy and a peculiar behavioral phenotype that includes sleep problems. It is caused by lack of expression of the UBE3A gene on the maternal chromosome 15q11-q13. Although part of the diagnostic description, 'sleep problems' are not well characterized. A pattern emerges from the available reports. It includes reduced total sleep time, increased sleep onset latency, disrupted sleep architecture with frequent nocturnal awakenings, reduced rapid eye movement (REM) sleep and periodic leg movements. Poor sleep does not significantly interfere with daytime alertness and sleep problems commonly diminish by late childhood, with continuing improvement through adolescence and adulthood. Sleep problems in Angelman syndrome reflect abnormal neurodevelopmental functioning presumably involving dysregulation of GABA-mediated inhibitory influences in thalamocortical interactions. Management may be difficult, particularly in young children; it primarily involves behavioral approaches, though pharmacological treatment may be required. The relationship between sleep and seizure disorder, and between sleep and learning raises critical questions, but more studies are needed to address these relationships adequately.
Research in developmental disabilities, 2013
The purpose of this investigation was to evaluate the effectiveness of a behavioral treatment package to reduce chronic sleep problems in children with Angelman Syndrome. Participants were five children, 2-11 years-of-age. Parents maintained sleep diaries to record sleep and disruptive nighttime behaviors. Actigraphy was added to provide independent evaluations of sleep-wake activity. The treatment package targeted the sleep environment, the sleep-wake schedule, and parent-child interactions during sleep times. Treatment was introduced sequentially, across families, and evaluated in an interrupted time series, multiple baseline design. Data show that prior to treatment, baseline rates of nighttime disruptive behavior were stable or increasing and none of the participants were falling to sleep independently. With the introduction of treatment, all participants quickly learned to initiate sleep independently. Gradual reductions were reported in disruptive behaviors and these improveme...
Are there distinctive sleep problems in AS
Angelman syndrome is a neurogenetic condition characterized by developmental delay, absence of speech, motor impairment, epilepsy and a peculiar behavioral phenotype that includes sleep problems. It is caused by lack of expression of the UBE3A gene on the maternal chromosome 15q11-q13. Although part of the diagnostic description, 'sleep problems' are not well characterized. A pattern emerges from the available reports. It includes reduced total sleep time, increased sleep onset latency, disrupted sleep architecture with frequent nocturnal awakenings, reduced rapid eye movement (REM) sleep and periodic leg movements. Poor sleep does not significantly interfere with daytime alertness and sleep problems commonly diminish by late childhood, with continuing improvement through adolescence and adulthood. Sleep problems in Angelman syndrome reflect abnormal neurodevelopmental functioning presumably involving dysregulation of GABA-mediated inhibitory influences in thalamocortical interactions. Management may be difficult, particularly in young children; it primarily involves behavioral approaches, though pharmacological treatment may be required. The relationship between sleep and seizure disorder, and between sleep and learning raises critical questions, but more studies are needed to address these relationships adequately.
Sleep breathing and periodic leg movement pattern in Angelman syndrome: a polysomnographic study
Clinical …, 2005
Objective: The aim of this study was to evaluate the sleep breathing patterns and to detect the eventual presence of periodic leg movements (PLMs) in patients affected by Angelman syndrome (AS). Methods: Ten children with AS were recruited to participate in the study; the clinical diagnosis was confirmed by the genetic analysis (maternal 15q deletion, uniparental paternal disomy, or mutation of the UBE3A gene). All patients but two had presented epileptic seizures. Two age-matched groups of patients with mental retardation (MR) associated (MREC) or not (MREK) to epilepsy were used as control groups. All subjects underwent one polysomnographic recording, after one adaptation night. Sleep stages were scored according to standard criteria slightly modified in order to take into account the specific EEG patterns of AS, also the apnea/hypopnea index (AHI) was quantified; PLMs were identified and the PLM index (PLMI) was computed. The statistical analysis was carried out by means of the one-way ANOVA, followed by the Fisher LSD post-hoc test, when appropriate, and by means of the linear correlation coefficient between AHI and PLMI. Results: Sleep macrostructure showed only few significant differences between children with AS and the other two groups of subjects: AS patients showed higher percentage of wakefulness after sleep onset and sleep onset latency; moreover, the percentage of REM sleep was reduced in AS and in MREC subjects. A tendency for AS subjects to present a higher PLMI than the other two groups was also found. AHI O5 was found in 30% of AS subjects, in 30.8% of MREC, and only in 20% of MREK patients (c 2 Z2.359, NS); 70% of AS patients, 38.5% of MREC, and 46.7% of MREK subjects had PLMI O5 (c 2 Z3.088, NS). Conclusions: These results confirm our previous questionnaire-based findings of a high prevalence of sleep breathing disorder and important PLMs in AS and allow us to hypothesize that epilepsy, rather than mental retardation, might exacerbate these sleep disorders. Significance: Sleep breathing disorder and PLMs might contribute to the cognitive impairment and to the worsening of life quality of subjects with AS and with MR (mostly those with epilepsy). Therefore, our findings suggest the need to explore these sleep disorders in children affected by MR and to set up a correct treatment.
SLEEP DISORDERS AMONG INDIVIDUALS WITH DEVELOPMENTAL DISABILITIES: A COMPREHENSIVE ANALYSIS
European Journal of Special Education Research, 2024
Sleep problems in individuals with developmental disabilities pose significant challenges for them and their families. This paper aims to examine the types of sleep problems in these individuals, the causes of these issues, and their impact on daily life. Through the analysis of available literature and research conducted on a sample of 67 individuals with special needs and their parents, data are obtained on the prevalence of sleep problems, influential factors, and methods for coping with them. The results show that sleep problems in individuals with developmental disabilities are significant and can seriously impact their quality of life. More than 70% of parents state that the lack of sleep negatively affects their daily life and professional activities. The main causes of sleep problems have been identified as sensory disturbances, melatonin deficiency, and other health issues related to the child's condition. Additionally, 73.4% of parents report that they cope with their children's sleep problems independently. These findings suggest a need for improved strategies and interventions for managing sleep in individuals with developmental disabilities, including enhanced support for parents. The significance of these findings lies in highlighting the need for the development of specialized programs and interventions that will help improve the quality of life for these individuals and their families.