Neurodevelopmental Disorders Commonly Presenting with Sleep Disturbances.
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ABSTRACT:
SUBMITTER: Shelton AR
PROVIDER: S-EPMC8116361 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Sleep abnormalities are common in patients with neurodevelopmental disorders, and it is thought that deficits in sleep may contribute to the unfolding of symptoms in these disorders. Appreciating sleep abnormalities in neurodevelopmental disorders could be important for designing a treatment for these disorders. We studied sleep duration in three mouse models by means of home-cage monitoring: Tsc2+/- (tuberous sclerosis complex), oxytocin receptor (Oxtr) knockout (KO) (autism spectrum disorders), and Shank3 e4-9 KO (Phelan-McDermid syndrome). We studied both male and female mice, and data were analyzed to examine effects of both genotype and sex. In general, we found that female mice slept less than males regardless of genotype or phase. We did not find any differences in sleep duration in either Tsc2+/- or Oxtr KO mice, compared to controls. In Shank3 e4-9 KO mice, we found a statistically significant genotype x phase interaction (p = 0.002) with a trend that Shank3e4-9 KO mice regardless of sex slept more than control mice in the active phase. Our results have implications for the management of patients with Phelan-McDermid syndrome.
| S-EPMC7824512 | biostudies-literature
Project description:Sleep disturbance affects about 75% of depressed individuals and is associated with poorer patient outcomes. The genetics in this field is an emerging area of research. Thus far, only core circadian genes have been examined in this context. We expanded on this by performing a genome-wide association study (GWAS) followed by a preplanned hypothesis-driven analysis with 27 genes associated with the biology of sleep. All participants were diagnosed by their referring physician, completed the Beck Depression Inventory (BDI), and the Udvalg for Kliniske Undersogelser Side Effect Rating Scale at baseline. Our phenotype consisted of replies to 3 questions from these questionnaires. From standard GWAS chip data, imputations were performed. Baseline total BDI scores (n = 364) differed significantly between those with and those without sleep problems. We were unable to find any significant GWAS hits although our top hit was for changes in sleep and an intergenic marker near SNX18 (p = 1.06 × 10-6). None of the markers in our hypothesis-driven analysis remained significant after applying Bonferroni corrections. Our top finding among these genes was for rs13019460 of Neuronal PAS Domain Protein 2 with changes in sleep (p = 0.0009). Overall, both analyses were unable to detect any significant associations in our modest sample though we did find some interesting preliminary associations worth further exploration.
| S-EPMC7206592 | biostudies-literature
Project description:Introduction: In recent years, a wide variety of rating scales and questionnaires for movement disorders have been developed and published, making reviews on their contents, and attributes convenient for the potential users. Sleep disorders are frequently present in movement disorders, and some movement disorders are accompanied by specific sleep difficulties. Aim: The aim of this study is to perform a narrative review of the most frequently used rating scales for movement disorders with sleep problems, with special attention to those recommended by the International Parkinson and Movement Disorders Society. Methods: Online databases (PubMed, SCOPUS, Web of Science, Google Scholar), related references from papers and websites and personal files were searched for information on comprehensive or global rating scales which assessed sleep disturbances in the following movement disorders: akathisia, chorea, dystonia, essential tremor, myoclonus, multiple system atrophy, Parkinson's disease, progressive supranuclear palsy, and tics and Tourette syndrome. For each rating scale, its objective and characteristics, as well as a summary of its psychometric properties and recommendations of use are described. Results: From 22 rating scales identified for the selected movement disorders, only 5 included specific questions on sleep problems. Movement Disorders Society-Unified Parkinson's Disease Rating scale (MDS-UPDRS), Non-Motor Symptoms Scale and Questionnaire (NMSS and NMSQuest), Scales for Outcomes in Parkinson's Disease (SCOPA)-Autonomic and Progressive Supranuclear Palsy Rating Scale (PSPRS) were the only rating scales that included items for assessing sleep disturbances. Conclusions: Despite sleep problems are frequent in movement disorders, very few of the rating scales addresses these specific symptoms. This may contribute to an infra diagnosis and mistreatment of the sleep problems in patients with movement disorders.
| S-EPMC6008651 | biostudies-other
Project description:Chronic nonmalignant pain, sleep disturbances and sleep disorders are highly prevalent conditions among U.S. military veterans. Evidence summaries highlight the influence of sleep on pain outcomes in the general adult population but not for the military veteran population. This is a significant gap as U.S. military veterans are an exceedingly high-risk population for both chronic pain and sleep disturbances and/or disorders. We aimed to review the influence of sleep disturbances and sleep disorders on pain outcomes among veterans with chronic nonmalignant pain. A systematic scoping review was conducted using PubMed/Medline, EMBASE, Scopus, CINAHL, and PsycINFO. Twenty-six out of 1450 studies from initial search were included in this review resulting in a combined sample size of N = 923,434 participants. Sleep disturbances and sleep disorders were associated with worse pain outcomes among veterans with chronic pain. Treatment-induced sleep improvements ameliorated pain outcomes in veterans with sleep disorders and sleep disturbances. Research is indicated to address an overlooked pain treatment opportunity - that of sleep disturbance and sleep disorder management.
| S-EPMC8240030 | biostudies-literature
Project description:Background Children with Fontan circulation are known to be at increased risk for neurodevelopmental problems and decreased health-related quality of life (HRQOL), but many factors that may contribute to this risk are unknown. Sleep disturbances may be one previously unidentified factor that contributes to this risk. Methods and Results We analyzed data from the Pediatric Heart Network Fontan cross-sectional study to evaluate associations between a parent or child report of sleep disturbance with reported neurodevelopmental concerns and HRQOL in 558 children with Fontan circulation. Parent-reported sleep disturbance was present in 11% of participants and child-reported sleep disturbance was present in 15%. Parent-reported sleep disturbance was associated with a significantly higher risk of attention problems, anxiety, depression, behavioral problems, and developmental delay (P<0.001 for all). Similarly, parent-reported disturbance was associated with decreased HRQOL on both parent and child-reported HRQOL (P<0.001 for most domains). Child-reported sleep disturbances were associated with increased odds of anxiety, depression, and attention problems as well as worse HRQOL. These associations were present even after adjustment for cardiac, demographic, and socioeconomic factors that may affect HRQOL and neurodevelopmental status. Conclusions Sleep disturbances in children with Fontan circulation are associated with an increased risk of neurodevelopmental problems as well as reduced HRQOL compared with those without sleep disturbance. Better understanding of sleep disturbances is needed in children with Fontan circulation, as sleep disturbances may represent a reversible cause of neurodevelopmental problems and decreased HRQOL in this population.
| S-EPMC8751823 | biostudies-literature
Project description:In this review we examine the current understanding of how genetic deficits associated with neurodevelopmental disorders may impact synapse assembly. We then go on to discuss how the critical periods for these genetic deficits will shape the nature of future clinical interventions.
| S-EPMC4262893 | biostudies-other
Project description:BACKGROUND:Wolfram syndrome is a rare disorder associated with diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing and vision loss, and neurodegeneration. Sleep complaints are common but have not been studied with objective measures. Our goal was to assess rates of sleep apnea and objective and self-reported measures of sleep quality, and to determine the relationship of sleep pathology to other clinical variables in Wolfram syndrome patients. METHODS:Genetically confirmed Wolfram syndrome patients were evaluated at the 2015 and 2016 Washington University Wolfram Syndrome Research Clinics. Patients wore an actigraphy device and a type III ambulatory sleep study device and completed the Epworth Sleepiness Scale (ESS), the Pittsburgh Sleep Quality Index (PSQI) and/or the Pediatric Sleep Questionnaire (PSQ). PSQI and PSQ questionnaire data were compared to a previously collected group of controls. Patients were characterized clinically with the Wolfram Unified Rating Scale (WURS) and a subset underwent magnetic resonance imaging (MRI) for brain volume measurements. RESULTS:Twenty-one patients were evaluated ranging from age 8.9-29.7?years. Five of 17 (29%) adult patients fit the criteria for obstructive sleep apnea (OSA; apnea-hypopnea index [AHI]???5) and all 4 of 4 (100%) children aged 12?years or younger fit the criteria for obstructive sleep apnea (AHI's???1). Higher AHI was related to greater disease severity (higher WURS Physical scores). Higher mixed apnea scores were related to lower brainstem and cerebellar volumes. Patients' scores on the PSQ were higher than those of controls, indicating greater severity of childhood obstructive sleep-related breathing disorders. CONCLUSIONS:Wolfram syndrome patients had a high rate of OSA. Further study would be needed to assess how these symptoms change over time. Addressing sleep disorders in Wolfram syndrome patients would likely improve their overall health and quality of life.
| S-EPMC6679489 | biostudies-literature
Project description:ObjectiveTo assess the effectiveness and safety of melatonin in treating severe sleep problems in children with neurodevelopmental disorders.Design12 week double masked randomised placebo controlled phase III trial.Setting19 hospitals across England and Wales.Participants146 children aged 3 years to 15 years 8 months were randomised. They had a range of neurological and developmental disorders and a severe sleep problem that had not responded to a standardised sleep behaviour advice booklet provided to parents four to six weeks before randomisation. A sleep problem was defined as the child not falling asleep within one hour of lights out or having less than six hours' continuous sleep.InterventionsImmediate release melatonin or matching placebo capsules administered 45 minutes before the child's bedtime for a period of 12 weeks. All children started with a 0.5 mg capsule, which was increased through 2 mg, 6 mg, and 12 mg depending on their response to treatment.Main outcome measuresTotal sleep time at night after 12 weeks adjusted for baseline recorded in sleep diaries completed by the parent. Secondary outcomes included sleep onset latency, assessments of child behaviour, family functioning, and adverse events. Sleep was measured with diaries and actigraphy.ResultsMelatonin increased total sleep time by 22.4 minutes (95% confidence interval 0.5 to 44.3 minutes) measured by sleep diaries (n=110) and 13.3 (-15.5 to 42.2) measured by actigraphy (n=59). Melatonin reduced sleep onset latency measured by sleep diaries (-37.5 minutes, -55.3 to -19.7 minutes) and actigraphy (-45.3 minutes, -68.8 to -21.9 minutes) and was most effective for children with the longest sleep latency (P=0.009). Melatonin was associated with earlier waking times than placebo (29.9 minutes, 13.6 to 46.3 minutes). Child behaviour and family functioning outcomes showed some improvement and favoured use of melatonin. Adverse events were mild and similar between the two groups.ConclusionsChildren gained little additional sleep on melatonin; though they fell asleep significantly faster, waking times became earlier. Child behaviour and family functioning outcomes did not significantly improve. Melatonin was tolerable over this three month period. Comparisons with slow release melatonin preparations or melatonin analogues are required.Trial registrationISRCT No 05534585.
| S-EPMC3489506 | biostudies-literature
Project description:BACKGROUND AND AIM:Predisposing factors place certain individuals at higher risk for insomnia, especially in the presence of precipitating conditions such as stressful life events. Sleep spindles have been shown to play an important role in the preservation of sleep continuity. Lower spindle density might thus constitute an objective predisposing factor for sleep reactivity to stress. The aim of this study was therefore to evaluate the relationship between baseline sleep spindle density and the prospective change in insomnia symptoms in response to a standardized academic stressor. METHODS:Twelve healthy students had a polysomnography recording during a period of lower stress at the beginning of the academic semester, along with an assessment of insomnia complaints using the insomnia severity index (ISI). They completed a second ISI assessment at the end of the semester, a period coinciding with the week prior to final examinations and thus higher stress. Spindle density, amplitude, duration, and frequency, as well as sigma power were computed from C4-O2 electroencephalography derivation during stages N2-N3 of non-rapid-eye-movement (NREM) sleep, across the whole night and for each NREM sleep period. To test for the relationship between spindle density and changes in insomnia symptoms in response to academic stress, spindle measurements at baseline were correlated with changes in ISI across the academic semester. RESULTS:Spindle density (as well as spindle amplitude and sigma power), particularly during the first NREM sleep period, negatively correlated with changes in ISI (p?<?0.05). CONCLUSION:Lower spindle activity, especially at the beginning of the night, prospectively predicted larger increases in insomnia symptoms in response to stress. This result indicates that individual differences in sleep spindle activity contribute to the differential vulnerability to sleep disturbances in the face of precipitating factors.
| S-EPMC4322643 | biostudies-literature
Project description:At least 25% of infants, children, and adolescents have a sleep problem at some point during this developmental period. The management of pediatric sleep-related disorders often begins with behavioral strategies. While medications can be a useful adjunct, they are used off-label for sleep problems in this age group. When used, medications should be chosen carefully and targeted to specific outcomes as part of a comprehensive approach to management. This article reviews medications used for common pediatric sleep problems with a focus on pediatric insomnia and the importance of a multifactorial approach to evaluation and management.
| S-EPMC3943656 | biostudies-literature