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The Interplay Between Sleep, Cognition, and Copy Number Variations in Autism Spectrum Disorder.

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	The Interplay Between Sleep, Cognition, and Copy Number Variations in Autism Spectrum Disorder./
作者:	Tesfaye, Rackeb.
面頁冊數:	1 online resource (217 pages)
附註:	Source: Dissertations Abstracts International, Volume: 85-01, Section: A.
Contained By:	Dissertations Abstracts International85-01A.
標題:	Sleep. -
電子資源:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=30548810click for full text (PQDT)
ISBN:	9798379862466

The Interplay Between Sleep, Cognition, and Copy Number Variations in Autism Spectrum Disorder.
Tesfaye, Rackeb.

The Interplay Between Sleep, Cognition, and Copy Number Variations in Autism Spectrum Disorder. - 1 online resource (217 pages)

Source: Dissertations Abstracts International, Volume: 85-01, Section: A.

Thesis (Ph.D.)--McGill University (Canada), 2022.

Includes bibliographical references

It is currently estimated that 40% to 80% of individuals with autism spectrum disorder (ASD) have disturbed sleep across their lifespan. It remains unclear how sleep problems may contribute to common comorbidities in ASD, such as cognitive impairments like executive dysfunction. Moreover, the biological mechanisms underlying elevated sleep disturbance risk in ASD have been sparsely investigated. My dissertation sought to investigate the impact of sleep disturbance on cognitive abilities and identify genetic risk factors contributing to sleep disturbance in ASD.In Manuscript 1 I examined if parent-reported sleep problems documented in 217 toddlers with ASD would be longitudinally associated with worse executive functioning (EF) development later in school age. Unexpectedly, participants had an adequate sleep duration and fewer insomnia symptoms compared to previous reports in ASD. Sleep onset difficulty in toddlerhood was associated with a worse EF trajectory related to behavioral regulation throughout middle school in ASD, while both longer and shorter sleep durations were later school-age correlates of worse EF performance with small to medium effects.To further interrogate the prevalence of sleep disturbances found, in Manuscript 2 I investigated a larger cohort of ASD youth. Again, we observed fewer sleep problems and adequate sleep duration compared to previous reports. Sleep difficulties related to insomnia were also weakly correlated with non-verbal IQ, in line with correlations in Manuscript 1. To account for the heterogeneity in ASD, we focused on a subset of autistic youth with genetic variations likely to confer risk for sleep problems. Using data from 5802 youth with ASD and 9601 controls, we found Copy Number Variations (CNVs; large genomic deletions and duplications) including circadian rhythm genes and previously identified insomnia risk genes increased the likelihood of an ASD diagnosis but had minimal effects on parent-reported sleep.Given the challenges in demonstrating excess sleep problems and robust sleep-cognition relationships in small ASD populations, in Manuscript 3 I turned to a large-scale general population dataset. This dataset allowed for a genetic first approach to understanding the interplay between ASD genetic risk, sleep, and cognition. I investigated if CNVs previously known to increase risk for ASD, other neurodevelopmental disorders and cognitive impairments, would be associated with sleep quality and quantity derived from self-report and accelerometer measures. Small effects between sleep quality and cognition were observed, while a quadratic U-shape relationship between sleep duration and cognitive performance was identified, mirroring findings in Manuscript 1. CNVs were associated with worse cognitive performance and both shorter and longer sleep durations, but not with sleep quality in the general population. Sleep duration modestly mediated the relationship between CNVs and worst cognitive performance.Taken together, my thesis highlights that sleep problems are heterogeneous across ASD cohorts and may be less prevalent than some current estimates suggest. I demonstrate that rare CNVs and cognitive ability may contribute minimally to sleep variability in ASD. This work also underscores the need for future research to investigate associations with sleep duration non-linearly. I conclude by discussing how methodological limitations and multifactorial pathways leading to sleep problems need to be considered in future research to untangle the complexity of the current findings.

Electronic reproduction.
Ann Arbor, Mich. :
ProQuest,
2023

Mode of access: World Wide Web

ISBN: 9798379862466Subjects--Topical Terms:

588379
Sleep.
Index Terms--Genre/Form:

542853
Electronic books.

The Interplay Between Sleep, Cognition, and Copy Number Variations in Autism Spectrum Disorder.
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520 $a It is currently estimated that 40% to 80% of individuals with autism spectrum disorder (ASD) have disturbed sleep across their lifespan. It remains unclear how sleep problems may contribute to common comorbidities in ASD, such as cognitive impairments like executive dysfunction. Moreover, the biological mechanisms underlying elevated sleep disturbance risk in ASD have been sparsely investigated. My dissertation sought to investigate the impact of sleep disturbance on cognitive abilities and identify genetic risk factors contributing to sleep disturbance in ASD.In Manuscript 1 I examined if parent-reported sleep problems documented in 217 toddlers with ASD would be longitudinally associated with worse executive functioning (EF) development later in school age. Unexpectedly, participants had an adequate sleep duration and fewer insomnia symptoms compared to previous reports in ASD. Sleep onset difficulty in toddlerhood was associated with a worse EF trajectory related to behavioral regulation throughout middle school in ASD, while both longer and shorter sleep durations were later school-age correlates of worse EF performance with small to medium effects.To further interrogate the prevalence of sleep disturbances found, in Manuscript 2 I investigated a larger cohort of ASD youth. Again, we observed fewer sleep problems and adequate sleep duration compared to previous reports. Sleep difficulties related to insomnia were also weakly correlated with non-verbal IQ, in line with correlations in Manuscript 1. To account for the heterogeneity in ASD, we focused on a subset of autistic youth with genetic variations likely to confer risk for sleep problems. Using data from 5802 youth with ASD and 9601 controls, we found Copy Number Variations (CNVs; large genomic deletions and duplications) including circadian rhythm genes and previously identified insomnia risk genes increased the likelihood of an ASD diagnosis but had minimal effects on parent-reported sleep.Given the challenges in demonstrating excess sleep problems and robust sleep-cognition relationships in small ASD populations, in Manuscript 3 I turned to a large-scale general population dataset. This dataset allowed for a genetic first approach to understanding the interplay between ASD genetic risk, sleep, and cognition. I investigated if CNVs previously known to increase risk for ASD, other neurodevelopmental disorders and cognitive impairments, would be associated with sleep quality and quantity derived from self-report and accelerometer measures. Small effects between sleep quality and cognition were observed, while a quadratic U-shape relationship between sleep duration and cognitive performance was identified, mirroring findings in Manuscript 1. CNVs were associated with worse cognitive performance and both shorter and longer sleep durations, but not with sleep quality in the general population. Sleep duration modestly mediated the relationship between CNVs and worst cognitive performance.Taken together, my thesis highlights that sleep problems are heterogeneous across ASD cohorts and may be less prevalent than some current estimates suggest. I demonstrate that rare CNVs and cognitive ability may contribute minimally to sleep variability in ASD. This work also underscores the need for future research to investigate associations with sleep duration non-linearly. I conclude by discussing how methodological limitations and multifactorial pathways leading to sleep problems need to be considered in future research to untangle the complexity of the current findings.
520 $a On estime actuellement que 40 a 80 % des personnes ayant un trouble du spectre autistique (TSA) ont des difficultes de sommeil au cours de leur vie. Depuis des decennies les recherches demontrent que le sommeil est essentiel au bon fonctionnement tant sur le plan physique que comportemental ou cognitif. Or, l'effet des difficultes de sommeil observees chez les personnes TSA sur leur fonctionnement est encore tres peu connu et celles-ci pourraient avoir un impact important par exemple sur le fonctionnement cognitif et plus particulierement sur les fonctions executives. De plus, les mecanismes biologiques qui sous-tendent le risque eleve de troubles du sommeil dans les TSA ont ete peu etudies. La these visait a etudier l'impact des troubles du sommeil sur les capacites cognitives et a identifier les facteurs de risque genetiques contribuant aux troubles du sommeil dans les TSA.Dans le manuscrit 1, j'ai cherche a savoir si les problemes de sommeil signales par les parents et documentes chez 217 jeunes enfants atteints de TSA etaient longitudinalement associes a un developpement moins bon du fonctionnement executif (FE) a l'age scolaire. De facon inattendue, les participants avaient une duree de sommeil adequate, et il n'etait pas clair si les symptomes d'insomnie etaient eleves par rapport aux donnees normatives ou aux etudes precedentes sur les TSA. Les difficultes d'endormissement chez les tout-petits ont ete associees a une trajectoire de fonctionnement executif plus defavorable tout au long de l'ecole primaire, surtout caracterisee par des difficultes au niveau de la regulation du comportement. Puis, tant des durees de sommeil plus longues que plus courtes ont ete associees a une performance de FE plus defavorable a l'age scolaire, avec des effets faibles a moyens.Afin d'etudier davantage la prevalence des troubles du sommeil constatee dans le premier manuscrit, dans le deuxieme manuscrit j'ai etudie une cohorte plus importante de 2571 jeunes ayant un TSA. Encore une fois, par rapport aux etudes anterieures, nous avons observe moins de problemes de sommeil et une duree de sommeil adequate. Les problemes de sommeil lies a l'insomnie, aux difficultes d'endormissement, aux reveils nocturnes et a la duree du sommeil etaient faiblement correles au QI non verbal et a la cognition precoce, conformement aux resultats de l'etude 1. Pour tenir compte de l'heterogeneite des TSA qui peut masquer les problemes de sommeil, nous nous sommes concentres sur un sous-ensemble de jeunes autistes presentant des variations genetiques susceptibles d'augmenter le risque de problemes de sommeil. A partir de donnees provenant de 5802 jeunes TSA et de 9601 non TSA, nous avons constate que des variations du nombre de copies (CNV ; grandes deletions et duplications genomiques), comprenant des genes lies au rythme circadien et des genes lies a l'insomnie, augmentaient la probabilite d'un diagnostic de TSA, mais avaient des effets minimes sur le sommeil signale par les parents.Etant donne la difficulte de demontrer l'existence de problemes de sommeil importants et de relations solides entre le sommeil et la cognition dans de petites populations de TSA, dans le troisieme manuscrit, j'ai utilise une grande base de donnees collectees sur la population generale. Cette base de donnees a permis d'adopter une approche basee sur la genetique pour comprendre l'interaction entre le risque genetique des TSA, le sommeil et la cognition.
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