Aging and sleep in Williams syndrome: Accelerated sleep deterioration and decelerated slow wave sleep decrement (original) (raw)
Related papers
Sleep in children with Williams Syndrome
Sleep Medicine, 2011
ObjectiveTo analyze sleep in children with Williams Syndrome (WS) compared to normal healthy controls in order to determine whether particular sleep features are characteristic of WS, and to explore associations between disturbed sleep and behavior.
Background Williams syndrome ( WS) is a neurodevelopmental genetic disorder characterised by physical abnormalities and a distinctive cognitive profile with intellectual disabilities (IDs) and learning difficulties. Methods In our study, nine adolescents and young adults with WS and 9 age-and sex-matched typically developing (TD) participants underwent polysomnography. We examined sleep architecture, leg movements and the electroencephalogram (EEG) spectra of specific frequency bands at different scalp locations. Results We found an atypical, WS characteristic sleep pattern with decreased sleep time, decreased sleep efficiency, increased wake time after sleep onset, increased non-rapid eye movement percentage, increased slow wave sleep, decreased rapid eye movement sleep percentage, increased number of leg movements and irregular sleep cycles. Patients with WS showed an increased delta and slow wave activity and decreased alpha and sigma activity in the spectral analysis of the EEG.
Atypical sleep architecture and altered EEG spectra in Williams syndrome
Journal of Intellectual Disability Research, 2010
Background Williams syndrome (WS) is a neurodevelopmental genetic disorder characterised by physical abnormalities and a distinctive cognitive profile with intellectual disabilities (IDs) and learning difficulties. Methods In our study, nine adolescents and young adults with WS and 9 age-and sex-matched typically developing (TD) participants underwent polysomnography. We examined sleep architecture, leg movements and the electroencephalogram (EEG) spectra of specific frequency bands at different scalp locations. Results We found an atypical, WS characteristic sleep pattern with decreased sleep time, decreased sleep efficiency, increased wake time after sleep onset, increased non-rapid eye movement percentage, increased slow wave sleep, decreased rapid eye movement sleep percentage, increased number of leg movements and irregular sleep cycles. Patients with WS showed an increased delta and slow wave activity and decreased alpha and sigma activity in the spectral analysis of the EEG. Conclusions Sleep maintenance and organisation are significantly affected in WS, while EEG spectra suggest increases in sleep pressure.
Research in Developmental Disabilities, 2020
Children with neurodevelopmental disorders commonly experience sleep problems. Williams Syndrome (WS), a rare genetic disorder characterised by a complex, uneven cognitive profile, is no exception. Compared with children with typical development (TD), school-aged children with WS experience significant sleep disruption: shorter sleep duration, more night wakings, greater bedtime resistance and excessive daytime tiredness. In children with TD, sleep problems impede optimal daytime functioning. In WS, this could compound existing difficulties. Few studies have examined sleep in very young children with WS and little is known about the early emergence of sleep problems in this population. To date, studies have been based on parent-report and no studies have objectively assessed sleep patterns using longitudinal approach in toddlers with WS. Thus, the current study sought to objectively explore sleep patterns in toddlers with WS. Parents of 38 children (13 WS, 25 TD) completed the Brief Infant Screening Questionnaire and the Medical and Demographics Questionnaire and sleep patterns were assessed using actigraphy. Data were collected longitudinally at ages 18, 24 and 30 months. Significant sleep disturbances were present in WS from 18 months old. Sleep duration, as measured by actigraphy, was significantly shorter in WS at all ages and, furthermore, parents of children with WS reported more night wakings, longer settling times and high levels of parental involvement. Crucially, whereas actigraphy showed developmental improvements in sleep quality in TD, no longitudinal changes were found in WS. Findings could be instrumental in working towards instigating appropriate, timely sleep management in this group, thus improving outcomes for children and their families. Dear Prof Heaton, On behalf of all authors, I would like to submit the paper "Early manifestation of sleep problems in toddlers with Williams Syndrome using a mixed method longitudinal approach" for the special issue in memory of Annette Karmiloff-Smith. Kind Regards, Dagmara Dimitriou Cover Letter Longitudinal and objective sleep patterns in young children with Williams Syndrome Sleep problems in Williams Syndrome emerge and manifest in early childhood Shorter sleep durations in Williams Syndrome; based on objective measures Different developmental sleep trajectory in toddlers with Williams Syndrome Limited sleep support provided for parents who consider sleep problematic *Highlights (for review) *Manuscript Click here to view linked References include aspects of language, social interaction and good facial recognition skills, in conjunction with clear difficulties with visuospatial skills and, in most incidences, mild to moderate ID (Martens, Wilson, & Reutens, 2008; Pober, 2010). Consistent with other neurodevelopmental disorders, studies exploring sleep in individuals with WS indicate that sleep difficulties are highly prevalent. Annaz, Hill, Ashworth, Holley, and Karmiloff-Smith (2011) found that, based on parent-report, 97% of school-aged children experienced sleep problems; these included more night waking, bedtime resistance, restless sleep and insufficient sleep compared with children with TD. Subsequent studies report similar findings, supporting the notion that children with WS experience disturbed sleep. Based on actigraphy and parentreport, Ashworth and colleagues found that children with WS experienced long sleep latencies, short sleep durations and frequent night waking (Ashworth, Hill, Karmiloff-Smith, & Dimitriou, 2013). Polysomnography studies show that children with WS spend more time awake after sleep onset than children with TD (Arens et al., 1998); in addition, individuals with WS experience reduced sleep efficiency and increased slow wave sleep and sleep disruption (Gombos, Bodizs, & Kovacs, 2011; Mason et al., 2011). It has been proposed that sleep disruptions, such as delayed sleep onset and disturbed sleep cycles, may be related to abnormal levels of sleep-related hormones, melatonin and cortisol, which help regulate sleep-wake cycles (Santoro,
Correlations between behavior, memory, sleep-wake and melatonin in Williams-Beuren syndrome
Physiology & Behavior, 2016
Williams-Beuren syndrome (WBS), a neurodevelopmental disorder caused by a microdeletion on chromosomic region 7q11.23, presents with peculiar behavioral and neurocognitive phenotypes that are marked by apparently preserved social and communicative abilities, which contrasts with low overall cognitive and particularly visuospatial performance. In addition, parents often report complaints of sleep disorders and behavioral problems of unknown cause. Sleep is a biological phenomenon that is modulated by the plasma concentration of melatonin and with influence on behavioral aspects and memory. Thus, this study sought to investigate the behavior, memory and the presence of sleep disorders in WBS and to correlate these factors with each other and with the plasma melatonin content. We used the Child Behavior Checklist for ages 6-18 (CBCL), the digit subtest of the Wechsler scale for auditory memory, the visual sequential memory subtest of the Illinois Test of Psycholinguistic Abilities (ITPA) and the Sleep Disturbance Scale for Children (SDSC). Determination of urinary aMT6s, an indirect measure of plasma melatonin content, was held for 72 h by ELISA, and the analysis of the circadian rhythm of this content was performed by the Cosinor method. The results of the CBCL showed that 87% of the WBS group presented with a clinical score on the overall competence and total behavioral problems. Furthermore, the behavioral problems that were most frequently reported by parents were anxiety and problems of thought. All individuals with WBS presented with impairments in auditory memory and 47% with impairments in visual sequential memory; 65% of the WBS group presented with an indicative of at least one sleep disorder, where respiratory, initiation and maintenance of sleep (DIMS) and hyperhidrosis were the most frequent disorders. The night time aMT6s levels were lower in individuals with WBS when compared with controls; 53% of the WBS group did not present with circadian rhythm variations in aMT6s levels. In addition, there was a negative correlation between the scores of auditory memory and the total score of sleep disorders and between the DIMS and nocturnal aMT6s content. In conclusion, in the present study, individuals with WBS showed a high frequency of behavioral and memory problems, sleep disturbances and no rhythm variation in aMT6s levels. The low melatonin content may be related with sleep disorders in this population, which, in turn, can have an adverse effect on specific cognitive skills such as memory.
2014
BACKGROUND AND PURPOSE: Reports on twin pairs concordant and discordant for Williams syndrome were published before, but no study unravelled sleep physiology in these cases yet. We aim to fill this gap by analyzing sleep records of a twin pair discordant for Williams syndrome extending our focus on presleep wakefulness and sleep spindling. METHODS: We performed multiplex ligation-dependent probe amplification of the 7q11.23 region of a 17 years old dizygotic opposite-sex twin pair discordant for Williams syndrome. Polysomnography of laboratory sleep at this age was analyzed and followed-up after 1.5 years by ambulatory polysomnography. Sleep stages scoring, EEG power spectra and sleep spindle analyses were carried out. RESULTS: The twin brother showed reduced levels of amplification for all of the probes in the 7q11.23 region indicating a typical deletion spanning at least 1.038 Mb between FKBP6 and CLIP2. The results of the twin sister showed normal copy numbers in the investigated region. Lower sleep times and efficiencies, as well as higher slow wave sleep percents of the twin brother were evident during both recordings. Roughly equal NREM, Stage 2 and REM sleep percents were found. EEG analyses revealed state and derivation-independent decreases in alpha power, lack of an alpha spectral peak in presleep wakefulness, as well as higher NREM sleep sigma peak frequency in the twin brother. Faster sleep spindles with lower amplitude and shorter duration characterized the records of the twin brother. Spectra show a striking reliability and correspondence between the two situations (laboratory vs. home records). CONCLUSION: Alterations in sleep and specific neural oscillations including the alpha/sigma waves are inherent aspects of Williams syndrome.
Impaired Sleep-Related Learning in Children with Williams Syndrome
Pediatrics Research International Journal, 2013
Recent research has established that sleep is essential for memory consolidation in learning and academic performance of children and adults. Similar evidence in childhood is emerging. Conversely, sleep deprivation and/or sleep problems usually weaken these functions. The present study investigates the association between sleep related learning in school-aged children with Williams syndrome (N=14) compared to the typically developing children (N=14). Sleep was measured using actigraphy and parents completed the Child Sleep Health Questionnaire. Accuracy performance on a well-characterised procedural learning task-the finger tapping motor sequence task (FTT) was assessed on three sessions. Children in the typically developing group showed increased accuracy scores following a period of sleep (14% improvement) compared with wake (drop of 2%). In contrast children with Williams syndrome showed an initial improvement in accuracy on the training session, albeit slow, but their accuracy deteriorated following a period of sleep. The sleep-related decrement in performance on the procedural task may reflect sleep problems that are now well characterised in the WS group. This study demonstrated the contribution of sleep to procedural learning in typically developing children. Further studies may elucidate the reasons why similar sleep related benefits are not seen in children with Williams syndrome. Meanwhile practitioners and families should ensure that children obtain adequate sleep in order to maximise their attention readiness to learn and achieve optimum cognitive performance.
Sleep-EEG in dizygotic twins discordant for Williams syndrome
Ideggyógyászati szemle, 2014
Reports on twin pairs concordant and discordant for Williams syndrome were published before, but no study unravelled sleep physiology in these cases yet. We aim to fill this gap by analyzing sleep records of a twin pair discordant for Williams syndrome extending our focus on presleep wakefulness and sleep spindling. We performed multiplex ligation-dependent probe amplification of the 7q11.23 region of a 17 years old dizygotic opposite-sex twin pair discordant for Williams syndrome. Polysomnography of laboratory sleep at this age was analyzed and followed-up after 1.5 years by ambulatory polysomnography. Sleep stages scoring, EEG power spectra and sleep spindle analyses were carried out. The twin brother showed reduced levels of amplification for all of the probes in the 7q11.23 region indicating a typical deletion spanning at least 1.038 Mb between FKBP6 and CLIP2. The results of the twin sister showed normal copy numbers in the investigated region. Lower sleep times and efficiencie...