Sleep disorders in children with Angelman and Smith-Magenis syndromes: The assessment of potential causes of disrupted settling and night time waking

Agar, Georgie; Oliver, Chris; Trickett, Jayne; Licence, Lucy; Richards, Caroline

doi:10.1016/j.ridd.2019.103555

Cited by 16 publications

(14 citation statements)

References 61 publications

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“…Caregivers also suggested sleep and temper outbursts were linked to poor health including pain from constipation and persistent ear infections. This highlights the need for professionals to assess and rule out pain in people with SMS, particularly before trialling behavioural interventions for poor sleep [ 31 ].…”

Section: Discussionmentioning

confidence: 99%

“…In that study there were no significant differences in the sleep hygiene scores of the SMS group compared to the typically developing group, despite children with SMS experiencing over an hour and half less total sleep time on average. In addition, there is limited empirical support for interactions between children with SMS and their caregivers at settling [ 31 ] which suggests that caregivers are already implementing sleep hygiene practices and yet these are not associated with improvements to children’s sleep.…”

Section: Discussionmentioning

confidence: 99%

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Caregivers’ experience of sleep management in Smith–Magenis syndrome: a mixed-methods study

Agar

Bissell

Wilde

et al. 2022

Orphanet J Rare Dis

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Background Smith–Magenis syndrome (SMS) is a rare genetic syndrome associated with a unique profile of early morning waking and daytime sleepiness. Children with SMS evidence high rates of self-injury and aggression and have a preference for adult over peer attention, with strong motivation to interact with a particular caregiver. In addition, people with SMS have lower adaptive functioning skills relative to cognitive abilities and demonstrate high levels of impulsivity. Taken together, these factors may result in individuals being awake overnight requiring vigilant caregiver supervision. Despite these complexities, no study has described the strategies caregivers take to keep their children with SMS safe overnight or considered the impact of these experiences on caregivers or the wider family. Methods The current study used a mixed-methods approach to consider sleep management strategies and challenges for caregivers of people with SMS at different ages. Caregivers completed an international online survey about sleep management and related difficulties, use of interventions and access to services and support. Semi-structured interviews were conducted with 14 caregivers in the UK to increase understanding of caregiver experiences and priorities for change in the UK context. Interviews were transcribed verbatim and coded using thematic analysis. Results Evidence from the online survey (n = 40) revealed wide-ranging impacts of poor sleep on the person with SMS and the wider family. Only 5% of caregivers reported that the sleep problems had no impact on their child, and 76% reported a moderately or extremely significant impact on themselves. For some individual caregivers, sleep management difficulties improved over time whereas for others no change was reported. Weekly respite emerged as the ideal provision for 49% of caregivers, although only 14% had access to this. The majority of caregivers (54%) received no respite. Thematic analysis of qualitative interviews revealed interactions between aspects of the behavioural phenotype of SMS which may contribute to complex and unusual presentations in relation to sleep management and safety. Conclusions Caregivers’ priorities for sleep management and support were delineated, with key implications for services in terms of the use of SMS-sensitive strategies and respite provision.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Caregivers’ experience of sleep management in Smith–Magenis syndrome: a mixed-methods study

Agar

Bissell

Wilde

et al. 2022

Orphanet J Rare Dis

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“…For example, the profile of sociability in both groups [59,60] may lead to greater distress at bedtime or waking, even if the settling and waking issues do not in themselves meet criteria for insomnia. Elevated rates of 'general' sleep difficulties in these groups could also be caused by pain from physical health conditions which are prevalent in these syndromes and may disrupt sleep [61]. Broader assessment and intervention for these aspects of health and behavior may therefore be beneficial for individuals presenting with 'general' sleep difficulties.…”

Section: Table 6 Clinical Summary Of Elevated and Equivocal Risk For mentioning

confidence: 99%

Sleep disorders in rare genetic syndromes: a meta-analysis of prevalence and profile

et al. 2021

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Background Sleep disorders are common in people with intellectual disability (ID) and autism, with growing evidence of diverse sleep profiles across ID associated genetic syndromes. Documenting the prevalence and profile of specific sleep disorders in syndromes will quantify syndrome-driven ‘risk’, inform prognosis and enhance understanding of aetiology of sleep disorders. Method Following PRISMA guidelines for meta-analysis, we searched Ovid PsycINFO, Ovid MEDLINE, Ovid Embase, Web of Science and PubMed Central with use of syndrome-specific keywords and 60 sleep-related search terms. We screened and extracted papers that reported sleep disorder prevalence data for five or more individuals within a genetic syndrome, and applied quality criteria to produce a quality-effects prevalence model of six types of sleep disorder across nineteen syndromes. Relative risk estimates were calculated for the prevalence of each sleep disorder in each syndrome. Results Two hundred and seventy three papers were identified, generating 463 prevalence estimates for Angelman, CHARGE, Cornelia de Lange, Down, fragile X, Prader–Willi, Rett, Smith–Magenis and Williams syndromes, mucopolysaccharidoses (MPS disorders), neurofibromatosis and tuberous sclerosis complex. Prevalence estimates were higher in genetic syndromes than published equivalents for typically developing individuals, with few exceptions. Between-syndrome differences for some disorders were evident; sleep-disordered breathing was most prevalent in MPS disorders (72–77%), while excessive daytime sleepiness was highest in Smith–Magenis syndrome (60%). Conversely, insomnia, which was reported at a higher rate than TD estimates in all syndromes except fragile X, was not associated with specific genetic risk. This suggests insomnia could emerge because of the individual’s environment or associated developmental delay, rather than any specific genetic syndromes. Limitations Due to the broad scope of the meta-analysis, only syndromes previously identified as reporting preliminary sleep research were included. Other syndromes may also experience elevated prevalence rates of specific types of sleep disorder. Only English language papers were included. Conclusions Differing prevalence rates between types of sleep disorder suggest differing causal mechanisms, such as cranio-facial morphology in Down and Prader–Willi syndromes and the build-up of mucopolysaccharides in MPS disorders. Priorities for clinical assessment and intervention for sleep disorders are discussed.

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“…Families were instructed that their child should wear an actigraph for seven nights of continuous wear where possible. For children with AS a researcher visited the family to set up video equipment to record night-time sleep behaviours (see 30) and instruct on sleep diary completion and operation of the event marker on the actigraph. A comparable training video was sent to parents of children in the TD group.…”

Section: Methodsmentioning

confidence: 99%

Multi-Method Assessment of Sleep in Children With Angelman Syndrome: A Case–Controlled Study

et al. 2019

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Objectives: To assess sleep quality and timing in children with Angelman syndrome (AS) with sleep problems using questionnaires and actigraphy and contrast sleep parameters to those of typically developing (TD) children matched for age and sex.Methods: Week-long actigraphy assessments were undertaken with children with AS (n = 20) with parent-reported sleep difficulties and compared with age and sex matched TD controls. The presence of severe sleep problems was assessed using the modified Simonds and Parraga sleep questionnaire. Sleep hygiene was measured using the Family Inventory of Sleep Habits.Results: Actigraphy and parent-completed sleep diary data indicated that children with AS had significantly earlier bedtimes (p = .003, Cohen d = .47) and poorer sleep efficiency (78%, p = .04, d = .33) than TD children (84%). No significant differences in total sleep time, sleep onset latency or wake after sleep onset were found between the two groups. The expected relationship between later bedtimes and increasing age found for the TD group (p < .001, β.78) was not evidenced for the AS group (p = .09, β.39). Considerable inter-individual and night to night variation in actigraphy assessed total sleep time and wake after sleep onset was found for children with AS compared to TD children. Parent report indicated that a greater proportion of children with AS had severe night waking problems compared to TD children (81 versus 5%). No significant differences in sleep hygiene and excessive daytime sleepiness were found between the two groups (p > .05).Conclusions: This study reports the largest objective dataset of sleep quality parameters in children with AS. Sleep quality in this group was characterised by poor efficiency and significant intra- and inter-individual variability that warrants further investigation. This variability should inform assessment and intervention for sleep in children with AS, as averages of total sleep, even across a 7 day period may not capture the difficulties with night waking highlighted by parental questionnaire report.

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Sleep disorders in children with Angelman and Smith-Magenis syndromes: The assessment of potential causes of disrupted settling and night time waking

Cited by 16 publications

References 61 publications

Caregivers’ experience of sleep management in Smith–Magenis syndrome: a mixed-methods study

Caregivers’ experience of sleep management in Smith–Magenis syndrome: a mixed-methods study

Sleep disorders in rare genetic syndromes: a meta-analysis of prevalence and profile

Multi-Method Assessment of Sleep in Children With Angelman Syndrome: A Case–Controlled Study

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