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Brain Sciences
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Sleep Disorders in Intellectual Disability—From Bench to Bedside
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Sleep Disorders in Intellectual Disability—From Bench to Bedside

A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Behavioral Neuroscience".

Deadline for manuscript submissions: closed (31 August 2021) | Viewed by 19112

Special Issue Editors

Dr. Catherine M. Hill

E-Mail Website
Guest Editor
Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK
Interests: paediatric sleep medicine; sleep in learning disabilities in children
Dr. Renata Riha

E-Mail Website
Guest Editor
Department of Sleep Medicine, Royal Infirmary of Edinburgh, Edinburgh EH16 4SA, UK
Interests: adult sleep medicine; parasomnias; sleep apnoea; narcolepsy; learning disability and sleep disorders

Special Issue Information

Dear Colleagues,

Sleep problems in adults and children with learning disabilities appear to be common and affect their health and quality of life, as well as the health and wellbeing of their parents and carers. However, they are very frequently overlooked and given limited attention. Few epidemiological studies and even fewer randomised, controlled intervention studies have been published in the area, with most publications accepted in very specialised journals with limited readership. The dearth of high-quality studies further hinders the appropriate funding of and investment in improving specialised services, outreach, and research into learning disabilities, creating a vicious circle. Finally, many of the disorders resulting in learning disability have the potential for enhancing our understanding of neurodegenerative processes in the standard population, e.g., dementia in people with Down’s syndrome, and these opportunities are being missed. A simple recognition of the importance of sleep and its effect on all aspects of health and quality of life in a substantial minority of the population is being missed.

By recognising the importance of sleep and sleep disorders in children and adults with learning disabilities, this issue aims to highlight some of the excellent research currently being carried out in the area and calls attention to this heretofore undervalued field of endeavour.

We are interested in all areas of sleep and sleep disorders in the context of learning disability, from animal model work and cellular studies to epidemiological surveys and interventional studies through to reviews or meta-analyses in the area, both paediatric and adult. All areas of learning disability and any underlying disorders are acceptable. We welcome your contributions in the form of original papers, commentaries or detailed reviews. If you are unsure as to whether your proposed contribution is suitable, please do not hesitate to contact the editors for advice or discussion.  

Dr. Catherine M. Hill
Dr. Renata Riha
Guest Editors

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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2200 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Intellectual Disability
  • Sleep
  • Adult
  • Paediatric

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Published Papers (6 papers)

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Research

19 pages, 1095 KiB  
Article
Circadian Sleep-Activity Rhythm across Ages in Down Syndrome
by Annalysa Lovos, Kenneth Bottrill, Stella Sakhon, Casandra Nyhuis, Elizabeth Egleson, Alison Luongo, Melanie Murphy, Angela John Thurman, Leonard Abbeduto, Nancy Raitano Lee, Katharine Hughes and Jamie Edgin
Brain Sci. 2021, 11(11), 1403; https://doi.org/10.3390/brainsci11111403 - 25 Oct 2021
Cited by 10 | Viewed by 3216
Abstract
Across all ages, individuals with Down syndrome (DS) experience high rates of sleep problems as well as cognitive impairments. This study sought to investigate whether circadian rhythm disruption was also experienced by people with DS and whether this kind of sleep disorder may [...] Read more.
Across all ages, individuals with Down syndrome (DS) experience high rates of sleep problems as well as cognitive impairments. This study sought to investigate whether circadian rhythm disruption was also experienced by people with DS and whether this kind of sleep disorder may be correlated with cognitive performance. A cross-sectional study of 101 participants (58 with DS, 43 with typical development) included individuals in middle childhood (6–10 years old), adolescence (11–18 years old), and young adulthood (19–26 years old). Sleep and markers of circadian timing and robustness were calculated using actigraphy. Cognitive and behavioral data were gathered via a novel touchscreen battery (A-MAPTM, Arizona Memory Assessment for Preschoolers and Special Populations) and parent questionnaire. Results indicated that children and adolescents with DS slept the same amount as peers with typical development, but significant group differences were seen in phase timing. The circadian robustness markers, interdaily stability and intradaily variability of sleep-wake rhythms, were healthiest for children regardless of diagnostic group and worst for adults with DS. Amplitude of the 24-h activity profile was elevated for all individuals with DS. In analyses of the correlations between sleep quality, rhythms, and cognition in people with DS, interdaily stability was positively correlated with reaction time and negatively correlated with verbal and scene recall, a finding that indicates increased stability may paradoxically correlate with poorer cognitive outcomes. Further, we found no relations with sleep efficiency previously found in preschool and adult samples. Therefore, the current findings suggest that a thorough examination of sleep disorders in DS must take into account age as well as circadian robustness to better understand sleep-cognitive correlations in this group. Full article
(This article belongs to the Special Issue Sleep Disorders in Intellectual Disability—From Bench to Bedside)
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14 pages, 1736 KiB  
Article
Sleep-Related Rhythmic Movement Disorder in Young Children with Down Syndrome: Prevalence and Clinical Features
by Ceren Kose, Izabelle Wood, Amy Gwyther, Susiksha Basnet, Chloe Gaskell, Paul Gringras, Heather Elphick, Hazel Evans and Catherine M. Hill
Brain Sci. 2021, 11(10), 1326; https://doi.org/10.3390/brainsci11101326 - 6 Oct 2021
Cited by 7 | Viewed by 4014
Abstract
Sleep-related Rhythmic Movement Disorder (RMD) affects around 1% of UK pre-school children. Little is known about RMD in Down syndrome (DS). We aimed to determine: (a) the prevalence of RMD in children with DS aged 1.5–8 years; (b) phenotypic and sleep quality differences [...] Read more.
Sleep-related Rhythmic Movement Disorder (RMD) affects around 1% of UK pre-school children. Little is known about RMD in Down syndrome (DS). We aimed to determine: (a) the prevalence of RMD in children with DS aged 1.5–8 years; (b) phenotypic and sleep quality differences between children with DS and RMD and sex- and age-matched DS controls; and (c) night-to-night variability in rhythmic movements (RMs). Parents who previously reported RMs from a DS research registry of 202 children were contacted. If clinical history suggested RMD, home videosomnography (3 nights) was used to confirm RMs and actigraphy (5 nights) was used to assess sleep quality. Phenotype was explored by demographic, strengths and difficulties, Q-CHAT-10/social communication and life events questionnaires. Eight children had confirmed RMD. Minimal and estimated maximal prevalence were 4.10% and 15.38%, respectively. Sleep efficiency was significantly lower in RMD-cases (69.1%) versus controls (85.2%), but there were no other phenotypic differences. There was considerable intra-individual night-to-night variability in RMs. In conclusion, RMD has a high prevalence in children with DS, varies from night to night and is associated with poor sleep quality but, in this small sample, no daytime phenotypic differences were found compared to controls. Children with DS should be screened for RMD, which is amenable to treatment. Full article
(This article belongs to the Special Issue Sleep Disorders in Intellectual Disability—From Bench to Bedside)
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9 pages, 261 KiB  
Article
Sleep and White Matter in Adults with Down Syndrome
by Victoria Fleming, Brianna Piro-Gambetti, Austin Bazydlo, Matthew Zammit, Andrew L. Alexander, Bradley T. Christian, Benjamin Handen, David T. Plante and Sigan L. Hartley
Brain Sci. 2021, 11(10), 1322; https://doi.org/10.3390/brainsci11101322 - 5 Oct 2021
Cited by 7 | Viewed by 2409
Abstract
Adults with Down syndrome are at a high risk for disordered sleep. These sleep problems could have marked effects on aging and Alzheimer’s disease, potentially altering white matter integrity. This study examined the associations between disordered sleep assessed via an actigraph accelerometer worn [...] Read more.
Adults with Down syndrome are at a high risk for disordered sleep. These sleep problems could have marked effects on aging and Alzheimer’s disease, potentially altering white matter integrity. This study examined the associations between disordered sleep assessed via an actigraph accelerometer worn on 7 consecutive nights, presence of diagnosis of obstructive sleep apnea, and diffusion tensor imaging indices of white matter integrity in 29 non-demented adults with Down Syndrome (48% female, aged 33–54 years). Average total sleep time was associated with lower mean diffusivity in the left superior longitudinal fasciculus (r = −0.398, p = 0.040). Average sleep efficiency, length of awakenings, and movement index were related to fractional anisotropy in the right inferior longitudinal fasciculus (r = −0.614 to 0.387, p ≤ 0.050). Diagnosis of obstructive sleep apnea was associated with fractional anisotropy in the right inferior longitudinal fasciculus (r = −0.373, p = 0.050). Findings suggest that more disrupted sleep is associated with lower white matter integrity in the major association tracts in middle-aged adults with Down syndrome. Longitudinal work is needed to confirm the directionally of associations. Sleep interventions could be an important component for promoting optimal brain aging in the Down syndrome population. Full article
(This article belongs to the Special Issue Sleep Disorders in Intellectual Disability—From Bench to Bedside)
14 pages, 941 KiB  
Article
Sleep, Function, Behaviour and Cognition in a Cohort of Children with Down Syndrome
by Jasneek K. Chawla, Anne Bernard, Helen Heussler and Scott Burgess
Brain Sci. 2021, 11(10), 1317; https://doi.org/10.3390/brainsci11101317 - 4 Oct 2021
Cited by 8 | Viewed by 2825
Abstract
Objective: To describe the sleep problems experienced by children with Down syndrome attending a tertiary sleep clinic and relationship with behaviour, function and cognition. Methods: Data were collected from children with Down syndrome aged 3–18 years old. Carers completed the Abbreviated Child Sleep [...] Read more.
Objective: To describe the sleep problems experienced by children with Down syndrome attending a tertiary sleep clinic and relationship with behaviour, function and cognition. Methods: Data were collected from children with Down syndrome aged 3–18 years old. Carers completed the Abbreviated Child Sleep Habits Questionnaire, Child Behaviour Checklist and Life-Habits Questionnaire at enrolment. Cognitive assessment (Stanford-Binet 5) was undertaken by a trained psychologist. Children received management for their sleep problem as clinically indicated. Results: Forty-two subjects with a median age of 6.8 years (Interquartile Range-IQR 4.5, 9.8) were enrolled. A total of 92% were referred with snoring or symptoms of Obstructive Sleep Apnoea (OSA), with 79% of those referred having had previous ENT surgery. Thus, 85% of all participants underwent a sleep study and 61% were diagnosed with OSA (OAHI ≥ 1/h). Based on questionnaires, 86% of respondents indicated that their child had a significant sleep disorder and non-respiratory sleep problems were common. Non-respiratory problems included: trouble going to sleep independently (45%), restless sleep (76%), night-time waking (24%) and bedtime resistance (22%). No significant correlations were found between sleep measures (behavioural and medical sleep problems) and the behavioural, functional or cognitive parameters. Conclusion: Sleep disorders were very common, especially non-respiratory sleep problems. OSA was common despite previous surgery. No association was found between sleep-related problems (snoring, sleep-study-confirmed OSA or non-respiratory sleep problem) and parent-reported behavioural problems, functional impairments or intellectual performance. This may reflect limitations of the measures used in this study, that in this population ongoing problems with daytime function are not sleep related or that a cross-sectional assessment does not adequately take into account the impacts of past disease/treatments. Further research is required to further evaluate the tools used to evaluate sleep disorders, the impact of those disorder on children with Down syndrome and interventions which improve both sleep and daytime function. Full article
(This article belongs to the Special Issue Sleep Disorders in Intellectual Disability—From Bench to Bedside)
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11 pages, 259 KiB  
Article
Child Sleep Linked to Child and Family Functioning in Children with Down Syndrome
by Anna J. Esbensen, Emily K. Schworer, Emily K. Hoffman and Susan Wiley
Brain Sci. 2021, 11(9), 1170; https://doi.org/10.3390/brainsci11091170 - 3 Sep 2021
Cited by 8 | Viewed by 2500
Abstract
Sleep problems have a bi-directional impact on the daytime performance of children, parental well-being, and overall family functioning in the general population. Children with Down syndrome (DS) are at a high risk of sleep problems, yet the relationship between sleep problems, adaptive functioning, [...] Read more.
Sleep problems have a bi-directional impact on the daytime performance of children, parental well-being, and overall family functioning in the general population. Children with Down syndrome (DS) are at a high risk of sleep problems, yet the relationship between sleep problems, adaptive functioning, and family stress in children with DS is not well documented. We examined the relationship between sleep (i.e., duration and quality) and child and parent/family functioning. Sixty-six children with DS wore an actigraph for a week to assess their sleep duration and sleep efficiency. Their parents completed ratings on child sleep duration and parasomnias, child adaptive functioning, parental depression and sleep, and family stress. The parents’ reports of their children’s sleep duration were associated with parental depressive symptoms. The parents’ reports of their children’s restless sleep behaviors were associated with poorer performances in child-compliant/calm behaviors, worse parental sleep, and negative parental feelings and sibling relationships. The findings from actigraph measures of the children’s sleep demonstrated that greater sleep efficiency was associated with greater child adaptive functioning and fewer parental depressive symptoms. The study findings provide preliminary evidence that sleep problems are related to child adaptive functioning, parental functioning, and family stress in children with DS. Full article
(This article belongs to the Special Issue Sleep Disorders in Intellectual Disability—From Bench to Bedside)
18 pages, 733 KiB  
Article
Objective and Subjective Prevalence of Obstructive Sleep Apnoea/Hypopnoea Syndrome in UK Adults with Down Syndrome: A Strong Marker for Diurnal Behavioural Disturbances
by Elizabeth A. Hill, Linda J. Williams, Sally-Ann Cooper and Renata L. Riha
Brain Sci. 2021, 11(9), 1160; https://doi.org/10.3390/brainsci11091160 - 31 Aug 2021
Cited by 6 | Viewed by 2669
Abstract
Prior to this study, the prevalence of obstructive sleep apnoea/hypopnoea syndrome (OSAHS) in adults with Down syndrome was unknown. We hypothesized that unrecognised OSAHS could have an additional deleterious impact on mood and behavioural disturbances in this group of people. Aims: To assess [...] Read more.
Prior to this study, the prevalence of obstructive sleep apnoea/hypopnoea syndrome (OSAHS) in adults with Down syndrome was unknown. We hypothesized that unrecognised OSAHS could have an additional deleterious impact on mood and behavioural disturbances in this group of people. Aims: To assess the prevalence of OSAHS in adults with Down syndrome in the United Kingdom, subjectively and objectively, and ascertain its association with diurnal behavioural disturbances. Method: Cross-sectional questionnaire study with home sleep apnoea testing (HSAT) during 2011–2015 across the four nations of the United Kingdom. Participants were adults aged ≥16 years with Down syndrome. Main outcome measures were: self- or caregiver-completed questionnaire data, including the Pictorial Epworth Sleepiness Scale (pESS), selected domains of the Developmental Behavioural Checklist for Adults (DBC-A), anthropometric measures, and symptoms of OSAHS. Objective prevalence was undertaken in a sample of responders using HSAT. Results: Responses were received from 1321/5270 participants (25%), with 1105 valid responses (21%). Eighty-one participants (7%) reported a prior diagnosis of OSA, of whom 38 were receiving therapy. Using validated algorithms, a diagnosis of OSAHS was probable in 366 participants (35%), who were younger, with higher BMI and higher mean total pESS (p < 0.0001). A total of 23% of participants had a pESS > 10. OSAHS was a strong marker for behavioural disturbances on the DBC-A depression, disruption and anti-social subscales (p < 0.001). Of 149 individuals who underwent HSAT, 42% were diagnosed with OSAHS. Conclusions: Untreated OSAHS in Down syndrome is common and associated with behavioural and mood disturbances. Improving awareness of OSAHS amongst adults with Down syndrome, their families and healthcare professionals is essential. Full article
(This article belongs to the Special Issue Sleep Disorders in Intellectual Disability—From Bench to Bedside)
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