Introdução: A enurese noturna (EN) é considerada como a eliminação de urina no período noturno, de forma involuntária, em indivíduos com cinco ou mais anos de idade em pelo menos duas noites no mês até todas as noites. EN pode ser do tipo monossintomática, quando ocorre na ausência de outros sintomas, ou não monossintomática, na presença de sintomas de vesicais diurnos. Apesar de historicamente conhecida com uma desordem psiquiátrica, a EN monossintomática está incluída na Classificação Internacional dos Transtornos de 2012 como uma parassonia podendo ocorrer em qualquer fase do sono, porém predominantemente no sono não REM. Está comumente associada a hiperatividade vesical, produção excessiva de urina e falha em acordar após o enchimento vesical. Apesar de ocorrer no sono, a avaliação do sono pelos padrões usuais falhou em encontrar justificativa para este processo patológico. A análise da microestrutura do sono é uma ferramenta mais refinada e precisa que pode auxiliar na busca do mecanismo neurofisiológico que justifica este processo. Objetivo: Analisar os padrões de microarquitetura de sono atrvés do Padrão alternante Cíclico (CAP) nas crianças com EN monossintomática para melhor compreensão das bases neurofisiológicas da EN. Metodologia: Trinta e seis crianças sendo, 22 enuréticos e 14 controles com idade variando entre sete e 17 anos de idade, que satisfizeram os critérios de inclusão, foram submetidas a triagem clínica e laboratorial, avaliados quanto aos aspectos do sono, com uso de diários de sono, das escalas de Berlin, Sleep Scale for Children (SDSC) e Escala de Sonolência de Epworth e posteriormente submetidos ao de estudo polissonográfico completo de noite inteira, com a avaliação do CAP. Resultados: As escalas de sonolência e de Berlin não evidenciaram anormalidades, o SDSC evidenciou apneia em 11/22 (50%), hiperidrose em 2/22 (9%) e transtorno da transição vigília-sono, do despertar e do início e manutenção de sono em 1/22 (4,5%) cada. A análise da estrutura do sono mostrou maiores números de despertares (p < 0,001) e de sono N2 (p=0,0025) além de maior quantidade de sono N3 (p < 0,0001) do que nos controles. A microestrutura do sono evidenciou aumento da fase A1 (p=0,05), porém de forma mais contundente, redução das fases A2 e A3 (p < 0,0001), mesmo com a taxa de CAP igual à dos controles normais.Conclusão: Crianças com EN possuem sono com comorbidades (avaliado pelo SDSC) e menos fases CAP A2 e A3, significando uma redução no seu mecanismo de despertar e que ainda não havia sido demonstrado num estudo de PSG com análise das variáveis comuns. Este é o primeiro estudo que demonstra tal fenômeno / Introduction: Nocturnal enuresis (NE) is defined as the lack of nocturnal urine control, in individuals with five or more years old for at least two nights in a month, but up to every night. EN can be monosymptomatic (ENM), when it occurs in the absence of other symptoms or non monosymptomatic in the presence of diurnal renal symptoms. Although historically known as a psychiatric disorder, ENM is included in the International Classification of Sleep Disorders 2012 as a parasomnia. It can occur at any sleep stage but predominantly in non-REM sleep. EN is commonly associated to bladder hyperactivity, excessive urine production and/or failure to wake up after bladder filling. Despite the occurrence in sleep, standard sleep evaluation has failed to find abnormalities. The analysis of sleep microstructure is a refined and more accurate tool that can help find the neurophysiological mechanism underlying this process. Purpose: To evaluate sleep microarchitecture through Clyclic Altenating Pattern (CAP) analysis in children with monosymptomatic NE and provide a better understanding of the neurophysiological basis of EN. Methods: After IRB approval, 36 children, 22 with NE and 14 controls aged between seven and 17 years old who met the inclusion criteria were submitted to clinical and laboratory screening, evaluated for aspects of sleep, using sleep logs, Berlin Questionnaire (BQ), Sleep Scale for Children (SDSC) and Epworth Sleepiness Scale (ESS) and submitted to a full polysomnographic study, with evaluation of CAP. Results: ESS and BQ evidenced no abnormalities, the SDSC showed mild sleep apnea in 11/22 (50%), hyperhidrosis in 2/22 (9%) and disorder of the sleep-wake transition, awakening and initiation and maintenance sleep in 1/22 (4.5%) each. Analysis of sleep macrostructure showed higher numbers of awakenings (p < 0.001) and N2 sleep (p = 0.0025) as well as greater amount of sleep N3 (p < 0.0001) when compared to controls. Sleep microstructure showed an increase in A1 phase (p = 0.05), and reduction of A2 and A3 (p < 0.0001). CAP rate was the same for both enuretic and controls. Conclusion: Children with EN may present sleep comorbidities (measured by SDSC) and less A2 and A3 CAP phases, meaning a reduction in its wake regulation. This is the first study to acknowledge this phenomenon

Introdução: A enurese noturna (EN) é considerada como a eliminação de urina no período noturno, de forma involuntária, em indivíduos com cinco ou mais anos de idade em pelo menos duas noites no mês até todas as noites. EN pode ser do tipo monossintomática, quando ocorre na ausência de outros sintomas, ou não monossintomática, na presença de sintomas de vesicais diurnos. Apesar de historicamente conhecida com uma desordem psiquiátrica, a EN monossintomática está incluída na Classificação Internacional dos Transtornos de 2012 como uma parassonia podendo ocorrer em qualquer fase do sono, porém predominantemente no sono não REM. Está comumente associada a hiperatividade vesical, produção excessiva de urina e falha em acordar após o enchimento vesical. Apesar de ocorrer no sono, a avaliação do sono pelos padrões usuais falhou em encontrar justificativa para este processo patológico. A análise da microestrutura do sono é uma ferramenta mais refinada e precisa que pode auxiliar na busca do mecanismo neurofisiológico que justifica este processo. Objetivo: Analisar os padrões de microarquitetura de sono atrvés do Padrão alternante Cíclico (CAP) nas crianças com EN monossintomática para melhor compreensão das bases neurofisiológicas da EN. Metodologia: Trinta e seis crianças sendo, 22 enuréticos e 14 controles com idade variando entre sete e 17 anos de idade, que satisfizeram os critérios de inclusão, foram submetidas a triagem clínica e laboratorial, avaliados quanto aos aspectos do sono, com uso de diários de sono, das escalas de Berlin, Sleep Scale for Children (SDSC) e Escala de Sonolência de Epworth e posteriormente submetidos ao de estudo polissonográfico completo de noite inteira, com a avaliação do CAP. Resultados: As escalas de sonolência e de Berlin não evidenciaram anormalidades, o SDSC evidenciou apneia em 11/22 (50%), hiperidrose em 2/22 (9%) e transtorno da transição vigília-sono, do despertar e do início e manutenção de sono em 1/22 (4,5%) cada. A análise da estrutura do sono mostrou maiores números de despertares (p < 0,001) e de sono N2 (p=0,0025) além de maior quantidade de sono N3 (p < 0,0001) do que nos controles. A microestrutura do sono evidenciou aumento da fase A1 (p=0,05), porém de forma mais contundente, redução das fases A2 e A3 (p < 0,0001), mesmo com a taxa de CAP igual à dos controles normais.Conclusão: Crianças com EN possuem sono com comorbidades (avaliado pelo SDSC) e menos fases CAP A2 e A3, significando uma redução no seu mecanismo de despertar e que ainda não havia sido demonstrado num estudo de PSG com análise das variáveis comuns. Este é o primeiro estudo que demonstra tal fenômeno / Introduction: Nocturnal enuresis (NE) is defined as the lack of nocturnal urine control, in individuals with five or more years old for at least two nights in a month, but up to every night. EN can be monosymptomatic (ENM), when it occurs in the absence of other symptoms or non monosymptomatic in the presence of diurnal renal symptoms. Although historically known as a psychiatric disorder, ENM is included in the International Classification of Sleep Disorders 2012 as a parasomnia. It can occur at any sleep stage but predominantly in non-REM sleep. EN is commonly associated to bladder hyperactivity, excessive urine production and/or failure to wake up after bladder filling. Despite the occurrence in sleep, standard sleep evaluation has failed to find abnormalities. The analysis of sleep microstructure is a refined and more accurate tool that can help find the neurophysiological mechanism underlying this process. Purpose: To evaluate sleep microarchitecture through Clyclic Altenating Pattern (CAP) analysis in children with monosymptomatic NE and provide a better understanding of the neurophysiological basis of EN. Methods: After IRB approval, 36 children, 22 with NE and 14 controls aged between seven and 17 years old who met the inclusion criteria were submitted to clinical and laboratory screening, evaluated for aspects of sleep, using sleep logs, Berlin Questionnaire (BQ), Sleep Scale for Children (SDSC) and Epworth Sleepiness Scale (ESS) and submitted to a full polysomnographic study, with evaluation of CAP. Results: ESS and BQ evidenced no abnormalities, the SDSC showed mild sleep apnea in 11/22 (50%), hyperhidrosis in 2/22 (9%) and disorder of the sleep-wake transition, awakening and initiation and maintenance sleep in 1/22 (4.5%) each. Analysis of sleep macrostructure showed higher numbers of awakenings (p < 0.001) and N2 sleep (p = 0.0025) as well as greater amount of sleep N3 (p < 0.0001) when compared to controls. Sleep microstructure showed an increase in A1 phase (p = 0.05), and reduction of A2 and A3 (p < 0.0001). CAP rate was the same for both enuretic and controls. Conclusion: Children with EN may present sleep comorbidities (measured by SDSC) and less A2 and A3 CAP phases, meaning a reduction in its wake regulation. This is the first study to acknowledge this phenomenon

Thèse de doctorat présenté en vue de l'obtention du doctorat en psychologie - recherche intervention, option neuropsychologie clinique (Ph.D) / L’enfant doué connait un rythme de développement distinct entre les sphères intellectuelle, affective et relationnelle de son développement. Bon nombre d’enfants doués se sentent différents et incompris en raison de leur profil de développement asynchrone. Il en découle des difficultés d’adaptation, des manifestations de souffrance psychologique, des difficultés académiques de même que des erreurs diagnostiques (Lançon et al., 2015; Terrassier et Gouillou, 2016; Vaivre-Douret, 2011). Afin d’optimiser les chances que les enfants doués développent leur plein potentiel et puissent jouir d’une bonne santé mentale, il est essentiel de mieux comprendre leurs différences et les facteurs qui rendent ces enfants à risque de problèmes sociaux, émotionnels et comportementaux. Un sommeil de qualité est essentiel pour un développement harmonieux et un fonctionnement diurne adapté (Gregory et Sadeh, 2012; Matricciani et al., 2019). Pourtant, aucune étude n’a à ce jour tracé un portrait détaillé des caractéristiques du sommeil des enfants doués ou étudié les liens entre d’éventuelles difficultés de sommeil chez ces enfants et les problèmes émotionnels et comportementaux qui nuisent au développement de leur plein potentiel. Or, une meilleure compréhension de leur profil de sommeil permettrait potentiellement d’expliquer et de comprendre les comportements inadaptés chez cette population. La présente thèse avait donc pour objectif d’étudier le profil de sommeil des enfants doués à l’aide de mesures subjectives et objectives, de le comparer à celui d’enfants au développement typique, puis d’analyser dans les deux groupes les liens entre les caractéristiques du sommeil et le fonctionnement diurne. La première étude visait à évaluer, par l’entremise de questionnaires remplis par les parents, la présence de difficultés de sommeil et de problèmes émotionnels et comportementaux dans un échantillon d’enfants doués et à explorer le rôle des problèmes de sommeil dans la relation entre la douance et les comportements intériorisés et extériorisés. Les résultats ont montré qu’être doué augmentait de 4,67 fois le risque d'avoir des problèmes de sommeil et de 14,12 fois le risque d'avoir des comportements inadaptés. Également, les problèmes de sommeil avaient tendance à modérer la relation entre la douance et les difficultés d'adaptation de sorte que la combinaison douance et problèmes de sommeil s’avérait être particulièrement préjudiciable au fonctionnement socioémotionnel et comportemental. La deuxième étude visait à examiner sur plusieurs nuits de façon objective par actigraphie la durée, la qualité et la variabilité intra-individuelle du sommeil des enfants doués de même que les plaintes parentales liées au sommeil de leur enfant. Les résultats de cette étude ont montré que les enfants doués présentaient une efficacité de sommeil moindre, caractérisée par des difficultés à maintenir le sommeil, et plus de variabilité intra-individuelle que les enfants au développement typique. Par ailleurs, les enfants doués montraient moins de décalage horaire social par rapport aux enfants du groupe contrôle. Enfin, les parents des enfants doués rapportaient significativement plus de plaintes liées au sommeil de leur enfant que les parents des enfants du groupe d’appariement. La troisième étude visait à évaluer objectivement par polysomnographie la macrostructure du sommeil et divers indicateurs de stabilité du sommeil – c.-à-d., éveils nocturnes, microéveils et transitions entre les stades de sommeil – chez les enfants doués puis à analyser les liens entre la physiologie de leur sommeil et leurs comportements inadaptés. Les résultats ont démontré que les enfants doués avaient significativement plus de stade N1 et moins de stade N3 comparativement aux enfants au développement typique. Chez les enfants doués, plus de stade N1 était corrélé à plus de problèmes extériorisés et moins de stade N3 était corrélé à plus de problèmes intériorisés. Les enfants doués avaient également plus de SP, qui n'était pas significativement associé aux échelles comportementales. Enfin, les enfants doués présentaient deux tendances opposées d'instabilité du sommeil : 1) plus d'instabilité impliquant le stade N1 et 2) moins d'instabilité impliquant les stades N2, N3 et le SP. La stabilité du sommeil – c.-à-d., moins de transition entre les stades du sommeil – était plus élevée chez les enfants doués que chez les enfants du groupe contrôle, et associée à moins de comportements indésirables. En somme, ces trois études ont permis de dresser un portrait beaucoup plus précis du sommeil et des caractéristiques émotionnelles et comportementales des enfants doués. Ensemble, ces recherches ont permis de déterminer que les enfants doués sont une population à risque de problèmes de sommeil et que le sommeil constitue un facteur sur lequel agir afin de favoriser un développement harmonieux chez les enfants doués et améliorer leur bien-être. / Giftedness is characterized by an intellectual development superior to peers while emotional and relational development corresponds to the age norms. Because of their asynchronous development profile, many gifted children feel different and misunderstood. This results in psychological problems, relationship difficulties, academic difficulties as well as frequent misdiagnoses (Lançon et al., 2015; Terrassier & Gouillou, 2016; Vaivre-Douret, 2011). Hence, to maximize the chances that gifted children develop their full potential and benefit from good psychological health, it is essential to better understand their differences and factors that make these children at risk of social, emotional, and behavioral problems. Sleep is essential for healthy development and optimal daytime functioning (Gregory & Sadeh, 2012; Matricciani et al., 2019). However, no study has yet drawn an accurate picture of gifted children’s sleep characteristics or investigated the relation between gifted children's sleep and their socio-emotional functioning. A better understanding of gifted children’s sleep characteristics could help explain their maladaptive behaviors. Accordingly, the objective of this thesis was to study the sleep profile of gifted children using subjective and objective measures, to compare it with that of typically-developing children and to analyze the links between sleep characteristics and daytime functioning in these two groups. The first study aimed to investigate with questionnaires completed by parents the risk of sleep and emotional problems in gifted children and to explore the role of sleep problems in the relation between giftedness and internalized and externalized behaviors. Results revealed that being in the gifted children group increased by 4.67 times the risk of having sleep problems and 14.12 times the risk of having maladaptive behaviors. Moreover, sleep problems tended to moderate the relation between giftedness and adjustment difficulties, such that the combination of giftedness and sleep problems appeared to be particularly prejudicial to socio-emotional functioning. The second study investigated habitual sleep, night-to-night sleep variability, and parental reports of sleep in gifted children using actigraphy. The clearest finding to emanate from this study is that gifted children have lower sleep efficiency, characterized by sleep maintenance problems, and more sleep intraindividual variability than typically-developing children. Additionally, we found gifted children to experience less social jetlag compared to typically-developing children. Gifted children also showed more clinically significant sleep problems as reported by their parents. The third study aimed to investigate sleep macrostructure and instability – i.e., awakenings, microarousal, and stage shifts – in gifted children in relation with problematic behaviors using polysomnography. We found significantly more stage N1 and less stage N3 in gifted children compared to typically-developing children. More stage N1 sleep was correlated with more externalizing problems and less stage N3 sleep was correlated with more internalizing problems. Gifted children also displayed more REM sleep, but this was not significantly correlated with behavioral scales. Gifted children displayed two opposing trends of sleep instability: more instability involving N1 sleep and less instability involving N2, N3 and REM sleep. Sleep stability – i.e., less stage shift – was higher in gifted children than in typically-developing children and associated with fewer unwanted behaviors. In conclusion, these three studies provided a much more accurate picture of sleep, emotional and behavioral characteristics of gifted children. Together, this research has made it possible to determine that gifted children are at risk for sleep problems and that sleep is a factor on which to act in order to promote harmonious development in gifted children and improve their well-being.