Dataset Information

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

ABSTRACT: 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, ?.78) was not evidenced for the AS group (p = .09, ?.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.

SUBMITTER: Trickett J

PROVIDER: S-EPMC6895248 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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

Trickett Jayne J Oliver Chris C Heald Mary M Denyer Hayley H Surtees Andrew A Clarkson Emma E Gringras Paul P Richards Caroline C

Frontiers in psychiatry 20191129

<b>Objectives:</b> 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. <b>Methods:</b> 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 ...[more]

PMID: 31849727

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Project description:Sleep disturbance is common in children with neurodevelopmental disorders, with high rates identified in children with Smith-Magenis syndrome (SMS), Angelman syndrome (AS), autism spectrum disorder (ASD) and tuberous sclerosis complex (TSC). Phenotypic sleep profiles for these groups may implicate different pathways to sleep disturbance. At present, cross-group comparisons that might elucidate putative phenotypic sleep characteristics are limited by measurement differences between studies. In this study, a standardised questionnaire was administered across groups affording comparison of the prevalence and profile of sleep disturbance between groups and contrast to chronologically age-matched typically developing (TD) peers.The modified version of Simonds and Parraga's sleep questionnaire, adapted for use in children with intellectual disabilities, was employed to assess sleep disturbance profiles in children aged 2-15 years with SMS (n?=?26), AS (n?=?70), ASD (n?=?30), TSC (n?=?20) and a TD contrast group (n?=?47). Associations between sleep disturbance and age, obesity, health conditions and overactivity/impulsivity were explored for each neurodevelopmental disorder group.Children with SMS displayed severe night waking (81%) and early morning waking (73%). In contrast, children with ASD experienced difficulties with sleep onset (30%) and sleep maintenance (43%). Fewer children with ASD (43%) and AS (46%) experienced severe night waking compared to children with SMS (both p?<?.01). Higher sleep-disordered breathing scores were identified for children with SMS (p?<?.001) and AS (p?<?.001) compared to the TD group. Sleep disturbance in children with AS and TSC was associated with poorer health. Children experiencing symptoms indicative of gastro-oesophageal reflux had significantly higher sleep-disordered breathing scores in the AS, SMS and ASD groups (all p?<?.01). A number of associations between overactivity, impulsivity, gastro-oesophageal reflux, age and sleep disturbance were found for certain groups.These data reveal syndrome-specific profiles of sleep disturbance. The divergent associations between sleep parameters and person characteristics, specifically symptoms of gastro-oesophageal reflux, overactivity and impulsivity and age, implicate aetiology-specific mechanisms underpinning sleep disturbance. The differences in prevalence, severity and mechanisms implicated in sleep disturbance between groups support a syndrome-sensitive approach to assessment and treatment of sleep disturbance in children with neurodevelopmental disorders.

Project description:BackgroundMyofunctional therapy is currently a reasonable therapeutic option to treat obstructive sleep apnea-hypopnea syndrome (OSAHS). This therapy is based on performing regular exercises of the upper airway muscles to increase their tone and prevent their collapse. Over the past decade, there has been an increasing number of publications in this area; however, to our knowledge, there are no studies focused on patients who can most benefit from this therapy.ObjectiveThis protocol describes a case-control clinical trial aimed at determining the muscular features of patients recently diagnosed with severe OSAHS compared with those of healthy controls.MethodsPatients meeting set criteria will be sequentially enrolled up to a sample size of 40. Twenty patients who meet the inclusion criteria for controls will also be evaluated. Patients will be examined by a qualified phonoaudiologist who will take biometric measurements and administer the Expanded Protocol of Orofacial Myofunctional Evaluation with Scores (OMES), Friedman Staging System, Epworth Sleepiness Scale, and Pittsburgh Sleep Quality Index questionnaires. Measures of upper airway muscle tone will also be performed using the Iowa Oral Performance Instrument and tongue digital spoon devices. Evaluation will be recorded and reevaluated by a second specialist to determine concordance between observers.ResultsA total of 60 patients will be enrolled. Both the group with severe OSAHS (40 patients) and the control group (20 subjects) will be assessed for differences between upper airway muscle tone and OMES questionnaire responses.ConclusionsThis study will help to determine muscle patterns in patients with severe OSAHS and can be used to fill the gap currently present in the assessment of patients suitable to be treated with myofunctional therapy.Trial registrationISRCTN Registry ISRCTN12596010; https://www.isrctn.com/ISRCTN12596010.International registered report identifier (irrid)PRR1-10.2196/30500.

Project description:BackgroundAngelman Syndrome (AS) is a rare genetic disorder characterized by impaired communication, motor and balance deficits, intellectual disabilities, recurring seizures and abnormal sleep patterns. The genetic cause of AS is neuronal-specific loss of expression of UBE3A (ubiquitin-protein ligase E6-AP), an imprinted gene. Seizure and sleep disorders are highly prevalent (>?80%) in the AS population. The present experiments were designed to identify translational, neurophysiological outcome measures in a model of AS.MethodsWe used the exon-2 deletion mouse (Ube3a-del) on a C57BL/6J background to assess seizure, sleep and electrophysiological phenotypes. Seizure susceptibility has been reported in Ube3a-del mice with a variety of seizure induction methods. Here, we provoked seizures by a single high-dose injection of 80 mg/kg pentylenetetrazole. Novel experiments included the utilization of wireless telemetry devices to acquire global electroencephalogram (EEG) and neurophysiological data on electrographic seizures, power spectra, light-dark cycles, sleep stages and sleep spindles in Ube3a-del and WT mice.ResultsUbe3a-del mice exhibited reduced seizure threshold compared to WT. EEG illustrated that Ube3a-del mice had increased epileptiform spiking activity and delta power, which corroborates findings from other laboratories and recapitulates clinical reports in AS. This is the first report to use a cortical surface-based recording by a wireless telemetry device over tethered/fixed head-mount depth recordings. Less time in both paradoxical and slow-wave sleep, longer latencies to paradoxical sleep stages and total less sleep time in Ube3a-del mice were observed compared to WT. For the first time, we detected fewer sleep spindles in the AS mouse model.LimitationsThis study was limited to the exon 2 deletion mouse model, and future work will investigate the rat model of AS, containing a complete Ube3a deletion and pair EEG with behavior.ConclusionsOur data enhance rigor and translatability as our study provides important corroboration of previous reports on epileptiform and elevated delta power. For the first time we report neurophysiological phenotypes collected via translational methodology. Furthermore, this is the first report of reduced sleep spindles, a critical marker of memory consolidation during sleep, in an AS model. Our results are useful outcomes for therapeutic testing.

Dataset Information

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

Publications

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

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