Le traumatisme craniocérébral (TCC) est la première cause d’invalidité chez les jeunes adultes qui entrent dans leurs années les plus productives, affectant significativement leur qualité de vie. Le TCC modéré à grave s’accompagne de dommages neuroanatomiques considérables et de conséquences neurologiques, cognitives, et sociales qui persistent à long terme, et notamment de troubles de l’éveil et du sommeil qui sont parmi les séquelles les plus communes, invalidantes et persistantes. Conséquemment, l’objectif global de cette thèse était d’investiguer comment le TCC modéré à grave affecte le sommeil subséquent pendant l’hospitalisation aigüe et à long terme, et d’évaluer comment ce sommeil subséquent affecte la récupération à la suite du TCC. Pour ce faire, nous avons usé de méthodes quantitatives, incluant la polysomnographie, afin de mesurer précisément le sommeil du stade aigu au stade chronique à la suite du TCC, ainsi que dans différents groupes contrôles hospitalisés ou non. De plus, ces mesures ont été combinées à des méthodes de neuroimagerie, notamment l’imagerie par tenseur de diffusion, ainsi qu’à diverses mesures cliniques et neuropsychologiques. Aux chapitres un et deux, un survol de la littérature pertinente à cette thèse sera d’abord présenté, abordant des concepts ayant trait au sommeil et au TCC. Les questions qui demeurent dans la littérature ainsi que les objectifs spécifiques de cette thèse seront également abordés en détail. Au chapitre trois, le sommeil au stade aigu du TCC et son association avec la fonction cognitive seront abordés au travers d’un article empirique. Puisque le TCC représente une perturbation importante pour le cerveau, spécialement au stade aigu, et que la majorité des patients ayant subi un TCC développeront des déficits cognitifs persistants, ce chapitre vise à caractériser objectivement le sommeil des patients ayant subi un TCC modéré à grave pendant leur hospitalisation aigüe, et à évaluer comment ce sommeil est associé à la cognition des années plus tard. Dans ce chapitre, nous avons d’abord démontré grâce à la polysomnographie que le TCC causait des altérations importantes du sommeil pendant l’hospitalisation aigüe, qui étaient caractérisées par un sommeil plus fragmenté et une plus grande quantité de sommeil lent profond. Nous avons ensuite démontré que ces altérations étaient associées avec la cognition des années plus tard, en accord avec le rôle attendu du sommeil dans la récupération neurologique à la suite du TCC. Ce chapitre suggère non seulement que le TCC soit directement impliqué dans l’altération du sommeil suivant la blessure, mais aussi que le sommeil subséquent puisse être un marqueur précoce ou un promoteur de la récupération cognitive à long terme, soulignant l’importance de monitorer le sommeil à la suite du TCC. Aux chapitres quatre et cinq, le sommeil au stade chronique du TCC et son association avec les dommages neuroanatomiques seront abordés au travers de deux articles empiriques. Puisque qu’il est difficile d’expliquer les plaintes chroniques de mauvaise qualité de sommeil et d’éveil par l’architecture du sommeil des patients ayant subi un TCC, et que la microarchitecture du sommeil, qui dépend fortement des réseaux étendus de matière blanche, n’a que très peu été étudiée, ces chapitres visent à caractériser la microarchitecture du sommeil des patients ayant subi un TCC modéré à grave au stade chronique, et d’investiguer comment cette microarchitecture est associée à la détérioration attendue de la matière blanche. Dans ces chapitres, nous avons démontré que les fuseaux de sommeil et les oscillations lentes n’étaient que très peu altérés au stade chronique du TCC, soulignant leur surprenante résilience, et que contrairement à nos hypothèses, ceux-ci ne sont probablement pas directement impliqués dans les troubles de sommeil et de l’éveil persistants rapportés à la suite du TCC. D’un autre côté, nous avons également démontré que la synchronisation des oscillations lentes était fortement associée à la détérioration massive de matière blanche présente chez ces patients, supportant l’hypothèse qu’il existe une forte pression homéostatique de sommeil et un besoin de sommeil augmenté qui persistent au stade chronique. Cette thèse a contribué à élucider comment le TCC affecte le sommeil à court et à long terme suivant la blessure, ainsi que l’effet du sommeil pendant l’hospitalisation aigüe sur l’évolution cognitive qui s’ensuit à long-terme. / Traumatic brain injuries are the first cause of disability among young adults. This is notable considering they are entering their most productive years, significantly altering their quality of life. Moderate to severe TBI are accompanied by considerable neuroanatomical damage and neurological, cognitive, and social consequences that can persist over several years, and notably sleep-wake disturbances which are among the most common, debilitating, and persistent sequelae. Thus, the global objective of this thesis was to investigate how moderate to severe TBI affects sleep during acute hospitalization and in the long-term, and to evaluate how post-injury sleep affects recovery following TBI. To achieve this goal, we used quantitative methods, including polysomnography, to precisely measure sleep in the acute and chronic stages of TBI, and in both hospitalized and not hospitalized control groups. In addition, these measures were combined to neuroimaging methods, notably diffusion tensor imaging, and to various clinical and neuropsychological measures. In chapters one and two, an overview of the relevant literature will first be presented, touching on concepts related to sleep and TBI. Current gaps in the literature and the thesis objectives will also be detailed. In chapter three, sleep in the acute stage of TBI and its association with cognitive function will be addressed. Because TBI represents a major disruption to the brain, especially in the acute stage, and because most patients with TBI exhibit persistent cognitive deficits, this chapter aims to objectively characterize sleep during acute hospitalization following moderate to severe TBI, and to explore how sleep is associated with cognition years later. In this chapter, we first showed with polysomnography that TBI caused significant disruptions of sleep during acute hospitalization, which were characterized by a more fragmented sleep and more slow-wave sleep. We then showed that these alterations were associated with cognition years later, in line with the expected role of sleep in neurological recovery. This chapter suggests that the TBI itself is directly involved in sleep disruption following the injury, and that subsequent sleep may be an early marker or a promoter of long-term cognitive recovery, highlighting the importance of monitoring sleep following TBI. In chapters four and five, sleep in the chronic stage of TBI and its association with neuroanatomical damage is addressed. Because chronic sleep-wake complaints are not accounted for by sleep architecture following TBI, and that sleep microarchitecture, which relies on a structural backbone of white matter networks, has rarely been studied, these chapters aim to characterize sleep microarchitecture in the chronic stage following moderate to severe TBI, and to investigate how this microarchitecture is associated with the expected white matter deterioration. In these chapters, we showed that sleep spindles and slow waves were only minimally altered in the chronic stage following TBI, highlighting their surprising resilience to injury, and that contrary to our hypotheses, these sleep oscillations are probably not directly involved in the persistent sleep-wake disturbances reported following TBI. On the other hand, we also showed that slow wave synchrony was strongly associated with the massive white matter deterioration observed in these patients, supporting the hypothesis of elevated homeostatic sleep pressure and heightened need for sleep persisting in the chronic stage. This thesis contributed to elucidating how TBI affects short and long-term sleep following injury, as well as the effect of sleep during acute hospitalization on long-term cognitive outcomes.

Problématique : L’édentement et les troubles du sommeil sont des affections chroniques fréquentes chez les personnes âgées et qui peuvent avoir des conséquences défavorables sur le bien-être de ces personnes, ainsi que sur leur qualité de vie. L’édentement pourrait perturber le sommeil par la modification de la structure crânio-faciale et des tissus mous environnants. Cependant, cette relation n'est pas suffisamment documenté. Objectifs : Le but de cette étude pilote était de préparer la mise en œuvre d’une étude clinique randomisée contrôlée concernant l’effet du port nocturne des prothèses complètes sur la qualité du sommeil. Méthodologie : Treize aînés édentés ont participé à cette étude clinique randomisée contrôlée de type croisé. L’intervention consistait à dormir avec ou sans les prothèses durant la nuit. Les participants à l'étude ont été assignés à porter et ne pas porter leurs prothèses dans des ordres alternatifs pour des périodes de 30 jours. La qualité du sommeil a été évaluée par la polysomnographie portable et le questionnaire Pittburgh Sleep Quality Index (PSQI). Les données supplémentaires incluent la somnolence diurne, évaluée par le questionnaire Epworth Sleepiness Scale (ESS), et la qualité de vie liée à la santé buccodentaire, évaluée par le questionnaire Oral Health Impact Profile 20 (OHIP-20). De plus, à travers les examens cliniques et radiologiques, les données des caractéristiques sociodémographiques, de la morphologie oropharyngée, des caractéristiques buccodentaires et des prothèses ont été recueillies. Les modèles de régression linéaire pour les mesures répétées ont été utilisés pour analyser les résultats. Résultats : L’étude de faisabilité a atteint un taux de recrutement à l’étude de 59,1% et un taux de suivi de 100%. Le port nocturne des prothèses dentaires augmentait l’index d'apnée-hypopnée (IAH) et le score PSQI par rapport au non port nocturne des prothèses : (IAH : Médiane = 20,9 (1,3 - 84,7) versus 11,2 (1,9 - 69,6), p = 0,237; le score PSQI : Médiane = 6,0 (3,0 - 11,0) versus 5,0 (1,0 - 11,0), p = 0,248). Cependant, ces différences n'étaient pas statistiquement significatives, sauf que pour le temps moyen d’apnée (plus long avec des prothèses) (p < 0,005) et le temps de ronflement relatif (moins élevé avec des prothèses) (p < 0,05). La somnolence diurne excessive et la qualité de vie liée à la santé buccodentaire étaient semblables pour les deux interventions (le score ESS : Médiane = 4,0 (3,0-10,0) versus 5,0 (2,0-10,0), p = 0,746; le score OHIP-20: Médiane = 31,0 (20,0-64,0) versus 27,0 (20,0-49,0), p = 0,670). L’impact néfaste du port nocturne des prothèses complètes sur le sommeil a été statistiquement significatif chez les personnes souffrant de l’apnée-hypopnée moyenne à sévère (p < 0,005). Conclusion : L’essai clinique pilote a montré que le port nocturne des prothèses complètes a un impact négatif sur la qualité du sommeil des gens âgés édentés, surtout chez les personnes avec l’apnée obstructive du sommeil modérée à sévère. Les résultats doivent être confirmés par l’étude clinique randomisée contrôlée de phase II. / Problem: Edentulism and sleep disturbance are common chronic conditions in older people and may have adverse consequences on well-being of these persons, as well as their quality of life. Indeed, edentulism can modify the craniofacial structure and surrounding soft tissue, and lead to sleep disturbance in edentate individuals. However, this relationship is not sufficiently documented. Objectives: The aim of this study was to prepare a pilot randomized controlled trial on the effect of nocturnal complete denture wear on sleep quality. Methods: Thirteen edentate elders participated in this randomized cross-over clinical trial. The intervention consisted of sleeping with or without dentures at night. The study participants were assigned to wear and not wear their denture in alternate orders for periods of 30 days. Sleep quality was assessed by portable polysomnography and the Pittsburgh Sleep Quality Index (PSQI). Additional data included: daytime sleepiness assessed by the Epworth Sleepiness Scale (ESS) and oral-health-related quality of life assessed by the Oral Health Impact Profile 20 (OHIP-20). Furthermore, through the clinical and radiographic examinations, data on sociodemographic, oropharyngeal morphology, and oral and prosthesis characteristics were gathered. Linear regression models for repeated measures were used to analyze the data. Results: The recruitment rate for this study was 59.1% and the follow-up rate was 100%. Sleeping with dentures resulted in higher apnea-hypopnea index (AHI) and higher PSQI score when compared with sleeping without dentures (AHI: Median = 20.9 (1.3-84.7) vs. 11.2 (1.9-69.6), p = 0.237; PSQI score: Median = 6.0 (3.0-11.0) vs. 5.0 (1.0-11.0), p = 0.248). However, these differences were not statistically significant, except for the mean apnea time (more with dentures) (p < 0.005) and the relative snoring time (less with dentures) (p < 0.05). Excessive daytime sleepiness and the oral-health-related quality of life were similar for two interventions (ESS score: Median = 4.0 (3.0-10.0) vs. 5.0 (2.0-10.0), p = 0.746; OHIP-20 score: Median = 31.0 (20.0-64.0) vs. 27.0 (20.0-49.0), p = 0.670). The negative impact of sleeping with complete dentures wear was statistically significant in individuals suffering from moderate and severe apnea-hypopnea index (p < 0.005). Conclusion: The pilot clinical trial showed that wearing complete dentures at night has negative effects on the sleep quality of edentate elders, especially in individuals with moderate and severe obstructive apnea sleep. The results need to be confirmed with phase-II randomized clinical trial.

Objetivos: Comparar os efeitos de um mês de tratamento com aparelho de pressão aérea positiva (CPAP) e com placebo sobre a aparência e características objetivas da pele da face de pacientes com apneia obstrutiva do sono (AOS), num estudo randomizado e cruzado. Métodos: Foram incluídos pacientes consecutivos com AOS grave e sonolentos. Os pacientes realizaram três polissonografias (PSG): a primeira para confirmação da AOS e outras duas adicionais com uso de placebo (dilatador nasal) e para titulação de CPAP, antes do início de cada tratamento. Todos os pacientes foram aleatoriamente alocados em dois grupos de tratamento: 1) uso do placebo e 2) uso do CPAP. Após um mês com o primeiro tratamento e 15 dias de washout, houve cruzamento para o segundo tratamento. A face dos pacientes foi fotografada de modo padronizado nos três momentos experimentais. As fotografias foram apresentadas, em ordem aleatória, pelo Qualtrics Survey Software, e avaliadas on-line por 704 observadores para quantificação da aparência saudável (nada saudável até extremamente saudável), atraente (nada atraente até extremamente atraente) e cansada (nada cansada até extremamente cansada). A idade aparente também foi perguntada para cada observador. Foram realizadas avaliações quantitativas das características da pele da face dos pacientes, em cada momento experimental, incluindo a presença de acne, manchas, porosidade, rugas, textura, e uniformidade do tom da pele, por meio da captação de imagens pelo equipamento VISIATM System. Resultados: Foram avaliados 30 pacientes (idade=46±9 anos; 21 homens). Os pacientes utilizaram o placebo em 98% das noites do período de tratamento e a adesão ao CPAP foi de 94% das noites, com média de 6,0 ± 1,7 horas de uso por dia de tratamento. Após o tratamento com CPAP, em comparação ao momento basal e após tratamento placebo, foi observada melhora na qualidade objetiva do sono, sonolência, qualidade de vida e sintomas depressivos (P < 0,05). A avaliação das fotografias pelos observadores mostrou que os pacientes foram identificados como mais jovens após o uso de CPAP (P < 0,001), mas não foram observadas alterações quantitativas das características da pele da face, em comparação com o momento basal e após o uso de placebo. A análise de regressão linear identificou que a quantidade de dias de tratamento com CPAP, o tempo total de sono e a porcentagem do tempo total de sono com saturação de oxihemoglobina abaixo de 90% foram preditores da diminuição da idade atribuída após o uso de CPAP. Conclusão: Os pacientes com AOS graves e sonolentos apresentaram aparência mais jovem após um mês de tratamento com CPAP / Objectives: To compare the effects of one month with continuous positive airway pressure (CPAP) treatment and placebo intervention on the appearance and objective facial skin characteristics of patients with obstructive sleep apnea (OSA) in a randomized crossover study. Methods: Consecutive sleepy patients with severe OSA were included. The patients underwent three polysomnograms (PSG): first one to confirm OSA and two additional ones using placebo (nasal dilator) and for CPAP titration before starting each treatment period. All patients were randomly included into two treatment groups: 1) placebo use and 2) CPAP use. After one month with the first treatment and 15 days of washout, patients were crossed-over for the second treatment. Photographs from the patients\' faces were obtained in the three experimental moments. The photographs were presented in a random order by the Qualtrics Survey Software, and were evaluated online by 704 observers for quantifying healthy appearance (unhealthy to extremely healthy), attractive (unattractive to extremely attractive) and tired (not tired to extremely tired). Apparent age was also rated for each observer. Quantitative evaluations of the skin characteristics of the patients\' faces were also carried out at each experimental moment, including the presence of acne, patches, porosity, wrinkles, texture, and skin tone uniformity, through the capture of images by VISIATM System equipment. Results: 30 patients (age = 46±9 years, 21 men) were evaluated. During treatment period, the patients wearing placebo intervention on 98% of the nights and adherence to CPAP was 94%, with a mean of 6.0 ± 1.7 hours of use per day of treatment. After CPAP treatment, compared to baseline and after placebo treatment, improvement in the objective sleep quality, sleepiness, quality of life and depressive symptoms were observed (P <0.05). Observational assessment of the photographs showed that patients were evaluated as being younger after using CPAP (P < 0.001), but no quantitative changes in face skin characteristics were observed compared to the baseline and after the use of placebo. Linear regression analysis identified the number of days with CPAP treatment, total sleep time and percentage of total sleep time with oxyhemoglobin saturation below 90% were predictors of decreasing of rated age after CPAP treatment. Conclusion: Sleepy patients with severe OSA had a younger appearance after one month of CPAP treatment

Objetivos: Comparar os efeitos de um mês de tratamento com aparelho de pressão aérea positiva (CPAP) e com placebo sobre a aparência e características objetivas da pele da face de pacientes com apneia obstrutiva do sono (AOS), num estudo randomizado e cruzado. Métodos: Foram incluídos pacientes consecutivos com AOS grave e sonolentos. Os pacientes realizaram três polissonografias (PSG): a primeira para confirmação da AOS e outras duas adicionais com uso de placebo (dilatador nasal) e para titulação de CPAP, antes do início de cada tratamento. Todos os pacientes foram aleatoriamente alocados em dois grupos de tratamento: 1) uso do placebo e 2) uso do CPAP. Após um mês com o primeiro tratamento e 15 dias de washout, houve cruzamento para o segundo tratamento. A face dos pacientes foi fotografada de modo padronizado nos três momentos experimentais. As fotografias foram apresentadas, em ordem aleatória, pelo Qualtrics Survey Software, e avaliadas on-line por 704 observadores para quantificação da aparência saudável (nada saudável até extremamente saudável), atraente (nada atraente até extremamente atraente) e cansada (nada cansada até extremamente cansada). A idade aparente também foi perguntada para cada observador. Foram realizadas avaliações quantitativas das características da pele da face dos pacientes, em cada momento experimental, incluindo a presença de acne, manchas, porosidade, rugas, textura, e uniformidade do tom da pele, por meio da captação de imagens pelo equipamento VISIATM System. Resultados: Foram avaliados 30 pacientes (idade=46±9 anos; 21 homens). Os pacientes utilizaram o placebo em 98% das noites do período de tratamento e a adesão ao CPAP foi de 94% das noites, com média de 6,0 ± 1,7 horas de uso por dia de tratamento. Após o tratamento com CPAP, em comparação ao momento basal e após tratamento placebo, foi observada melhora na qualidade objetiva do sono, sonolência, qualidade de vida e sintomas depressivos (P < 0,05). A avaliação das fotografias pelos observadores mostrou que os pacientes foram identificados como mais jovens após o uso de CPAP (P < 0,001), mas não foram observadas alterações quantitativas das características da pele da face, em comparação com o momento basal e após o uso de placebo. A análise de regressão linear identificou que a quantidade de dias de tratamento com CPAP, o tempo total de sono e a porcentagem do tempo total de sono com saturação de oxihemoglobina abaixo de 90% foram preditores da diminuição da idade atribuída após o uso de CPAP. Conclusão: Os pacientes com AOS graves e sonolentos apresentaram aparência mais jovem após um mês de tratamento com CPAP / Objectives: To compare the effects of one month with continuous positive airway pressure (CPAP) treatment and placebo intervention on the appearance and objective facial skin characteristics of patients with obstructive sleep apnea (OSA) in a randomized crossover study. Methods: Consecutive sleepy patients with severe OSA were included. The patients underwent three polysomnograms (PSG): first one to confirm OSA and two additional ones using placebo (nasal dilator) and for CPAP titration before starting each treatment period. All patients were randomly included into two treatment groups: 1) placebo use and 2) CPAP use. After one month with the first treatment and 15 days of washout, patients were crossed-over for the second treatment. Photographs from the patients\' faces were obtained in the three experimental moments. The photographs were presented in a random order by the Qualtrics Survey Software, and were evaluated online by 704 observers for quantifying healthy appearance (unhealthy to extremely healthy), attractive (unattractive to extremely attractive) and tired (not tired to extremely tired). Apparent age was also rated for each observer. Quantitative evaluations of the skin characteristics of the patients\' faces were also carried out at each experimental moment, including the presence of acne, patches, porosity, wrinkles, texture, and skin tone uniformity, through the capture of images by VISIATM System equipment. Results: 30 patients (age = 46±9 years, 21 men) were evaluated. During treatment period, the patients wearing placebo intervention on 98% of the nights and adherence to CPAP was 94%, with a mean of 6.0 ± 1.7 hours of use per day of treatment. After CPAP treatment, compared to baseline and after placebo treatment, improvement in the objective sleep quality, sleepiness, quality of life and depressive symptoms were observed (P <0.05). Observational assessment of the photographs showed that patients were evaluated as being younger after using CPAP (P < 0.001), but no quantitative changes in face skin characteristics were observed compared to the baseline and after the use of placebo. Linear regression analysis identified the number of days with CPAP treatment, total sleep time and percentage of total sleep time with oxyhemoglobin saturation below 90% were predictors of decreasing of rated age after CPAP treatment. Conclusion: Sleepy patients with severe OSA had a younger appearance after one month of CPAP treatment

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Acid maltase deficiency (AMD) is a rare autosomal recessive genetic disorder that results in an accumulation of glycogen in the lysosomal storage vacuoles. It is classified as a glycogen storage disease (type II) and is also known as Pompe's disease. The prognosis of the patient with AMD is poor and the main cause of death is respiratory failure. We report a female patient whose respiratory insufficiency was documented to occur most severely during rapid eye movement sleep and who benefited clinically from the institution of nocturnal noninvasive bilevel positive airway pressure.

Trötthet i trafiken är ett stort problem i samhället. Det är särskilt farligt att trött framföra tunga lastbilar i trafiken eftersom dessa fordon är stora och har ofta livsavgörande roller vid inblandning i trafikolyckor. För att angripa problemet har det i denna rapport studerats kring vilket sömnstadie som är lämpligast att vakna under, i syfte att vakna pigg och alert samt vilka typer av tekniker och metoder som är lämpliga för att portabelt kunna detektera Rapid-Eye-Movement. Tidigare arbeten och studier har gjorts som påvisar att uppväckning i REM-sömn är optimalt för att känna sig alert. De valda metoderna är baserade på varianter av väletablerade tekniker som används för identifiering av sömnsteg. Elektrookulografi används för att mäta ögonrörelser med hjälp av fyra elektroder som är placerade på huvudet. Kroppsrörelser upptäcks genom en accelerometer som fästs på armen. Pulsmätningar görs och används för att räkna ut pulsvariansen under sömnen. Målet är att skapa en prototyp som ska känna av när användaren är i REM-sömn och sedan väcka användaren. Detta arbete är uppdelat i två inbyggda system som görs mellan två olika examensarbeten. Resultatet blev tre sensorer som fungerar individuellt. På grund av tidsbrist och en längre felsökning blev prototypen inte färdigställd. Innan sensorerna kan tillämpas i en produkt krävs det att ytterligare tester genomförs under monitorering av en sömnspecialist. / Tiredness in traffic is a major problem in society. It is especially dangerous to drive heavy trucks when tired because these vehicles are large and often have vital roles when involved in traffic accidents. To address the problem, this degree project has studied which sleep stage is most appropriate to wake up during, in order to wake up sharp and alert, and what types of techniques and methods are suitable for portable detection of Rapid-Eye-Movement. Previous work and studies have been done which indicates that awakening during REM sleep is optimal for feeling alert. The chosen methods are based on variants of well-established techniques that are used to identify sleep stages. Electrooculography is used to measure eye movements using four electrodes placed on the head. Body movements are detected by an accelerometer attached to the arm. Pulse measurements are made and used to calculate the pulse variation during sleep. The goal is to create a prototype which will know when the user is in REM sleep and then wake the user up. This work is divided into two embedded systems that are made between two different degree projects. The result was three sensors that worked individually. Due to lack of time and a longer troubleshooting, the prototype was not completed. Before the sensors can be used in a product, additional tests are required under the supervision of a sleep specialist.