Sleep in children with Smith–Magenis syndrome: a case–control actigraphy study

Trickett, Jayne; Oliver, Chris; Heald, Mary; Denyer, Hayley; Surtees, Andrew; Clarkson, Emma; Gringras, Paul; Richards, Caroline

doi:10.1093/sleep/zsz260

Cited by 20 publications

(35 citation statements)

References 37 publications

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“…Several anatomical, physiological, and neurological factors, typical for the different GSs, may contribute to altering sleep: the altered melatonin secretion leads to circadian rhythm disruption in Smith–Magenis syndrome, while hypotonia determines frequent breathing disorders in Down and Angelman syndrome ( 7 , 8 ). Other frequent causes are poor sleep hygiene, pain caused by co-occurring medical conditions, epilepsy, and adverse effects of drug therapies ( 6 , 9 ).…”

Section: Introductionmentioning

confidence: 99%

Sleep in Children With Pallister Killian Syndrome: A Prospective Clinical and Videopolysomnographic Study

et al. 2021

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Objectives: Pallister-Killian syndrome (PKS) is a rare genetic disorder with multi-organ involvement caused by mosaic tetrasomy of chromosome 12p. Although many caregivers report the presence of impaired sleep in their children, there are no clear data in the literature on this issue and no systematic study has ever been performed. With this study, we aimed to characterize the features of sleep in Pallister-Killian syndrome and identify the possible influence of clinical and demographic features. Moreover, our aim was to verify the effectiveness of conventional screening questionnaires in this particular group of patients.Methods: We prospectively enrolled 14 patients aged 1–17 years in collaboration with PKS Kids Italia ONLUS. The Sleep Disturbance Scale for Children (SDSC) questionnaire was administered to caregivers. Then, video polysomnography (VPSG) of at least 24 h was performed and results were compared with a same-aged control group.Results: A total of 92% of patients had abnormal SDSC scores, extremely high in the “disorder of initiating and maintaining sleep” (DIMS) and “sleep breathing disorders” (SBD) subscales. VPSG showed a significantly impaired macrostructure in PKS patients, with a higher Arousal Index (p < 0.00001) and percentage of time spent in N3 (p < 0.00001), and reduced Sleep Efficiency (p = 0.0006). After dividing both PKS and controls into two groups based on median age, some peculiarities emerged: the younger group had higher Awakenings Index (p = 0.0207) and percentage of time spent in N1 (p = 0.015) while the older group showed higher time in bed (TIB) (p = 0.0485), compared with controls. Due to poor compliance, the Apnea-Hypopnea Index (AHI) was evaluated only for 10 PKS children, being significantly increased (p = 0.0427) compared with controls. SBD subscale scores in SDSC were significantly related to AHI values in VPSG (p = 0.0099).Conclusions: This study constitutes the first attempt to describe the sleep pattern in PKS. Despite small numbers due to the rarity of the syndrome, our VPSG results confirm the high prevalence of sleep disorders (SDs) in these patients. It is therefore essential to investigate and treat them. The SDSC scale is a good screening tool for early detection also in these patients, with particular sensitivity in detecting breathing disorders.

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Section: Introductionmentioning

confidence: 99%

Sleep in Children With Pallister Killian Syndrome: A Prospective Clinical and Videopolysomnographic Study

et al. 2021

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“…Furthermore, despite a known preference for social attention in both groups (Oliver et al, 2007;Wilde et al, 2013) children spent relatively little time communicating with others (either verbally or non-verbally) after being put to bed. This suggests that parents are not repeatedly attending to their children at settling or when they wake, supporting informant-report data demonstrating good sleep hygiene in both groups (Trickett et al, 2019a;2019b). As reducing parent involvement in resettling is often a key component recommended as part of a behavioural intervention (Vriend & Corkum, 2011;Wiggs & France, 2000), this is important for practitioners to note.…”

Section: Discussionmentioning

confidence: 56%

“…Sleep was objectively poor in both groups with increased wake after sleep onset and reduced total sleep time in the SMS group compared to chronologically age-matched TD peers and decreased sleep efficiency (time spent in bed actually sleeping) in the AS group compared to chronologically age-matched TD peers reported in the wider cohort (Trickett et al, 2019a;2019b).…”

Section: Participantsmentioning

confidence: 83%

“…The Actiwatch 2 is an accelerometer which defines sleep and wake based on movement in 30 second epochs. Data were downloaded to Philips Actiware software and analysed using the protocol developed by Trickett et al (2017). This is a standardised protocol designed to remove artefact from the data which can make actigraphy less reliable (Acebo et al, 1999), for example by excluding periods where the actiwatch was removed.…”

Section: Videosomnographymentioning

confidence: 99%

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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

Agar

Oliver

Trickett

et al. 2020

Research in Developmental Disabilities

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Link to publication on Research at Birmingham portal General rightsUnless a licence is specified above, all rights (including copyright and moral rights) in this document are retained by the authors and/or the copyright holders. The express permission of the copyright holder must be obtained for any use of this material other than for purposes permitted by law.• Users may freely distribute the URL that is used to identify this publication.• Users may download and/or print one copy of the publication from the University of Birmingham research portal for the purpose of private study or non-commercial research.• User may use extracts from the document in line with the concept of 'fair dealing' under the Copyright, Designs and Patents Act 1988 (?) • Users may not further distribute the material nor use it for the purposes of commercial gain.Where a licence is displayed above, please note the terms and conditions of the licence govern your use of this document.When citing, please reference the published version. Take down policyWhile the University of Birmingham exercises care and attention in making items available there are rare occasions when an item has been uploaded in error or has been deemed to be commercially or otherwise sensitive.

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“…The Vineland Adaptive Behavior Scales-2 (31) was completed either over the phone or in person with the family of children with AS. The measures and recruitment of TD children in this study replicate those used in study of sleep in children with Smith–Magenis syndrome (32).…”

Section: Methodsmentioning

confidence: 88%

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 in children with Smith–Magenis syndrome: a case–control actigraphy study

Cited by 20 publications

References 37 publications

Sleep in Children With Pallister Killian Syndrome: A Prospective Clinical and Videopolysomnographic Study

Sleep in Children With Pallister Killian Syndrome: A Prospective Clinical and Videopolysomnographic Study

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

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

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