Narcolepsie chez l'enfant : caractéristiques cliniques et approches thérapeutiques

Narcolepsy is a rare neurological disease and it starts, in 50% of cases, before adulthood. It is characterized by excessive daytime sleepiness, cataplexy, sleep paralysis and hypnologic hallucinations, events that affect the psychological, social and school children. This pathophysiology is described by the loss of neurons in the posterior hypothalamus hypocretin, probably due to an autoimmune attack, and by histamine systems. Instead of narcolepsy adult, pediatric studies aren’t numerous and can be a light to the understanding of this pathogenesis and her evolution. The main objective of the thesis is to characterize the disease and her treatment in pediatric population. This rechearch used clinical databases, anthropometric, electrophysiological and pharmacological in children’s, adolescents and adults, with narcolepsy followed within five Centers National Reference Narcolepsy and hypersomnia. The results have shown that narcolepsy in children may have different phenotypes (rapid weight gain, obesity, ADHD, depression, allergies and others) and It can be most severe than adult population, principality obesity and ADHD. The thesis describes our experience of treatment and the utilization of pitolisant in narcolepsy (effective for treating sleepiness with improvements on cataplexy, has been presented a good risk/benefit ratio). In conclusion, there is a distinctive aspect of adult and pediatric narcolepsy (obesity and symptoms of more severe ADHD, in the way that obesity affects about 60% of narcoleptic children, most youth early in the disease, and has a negative impact on sleep quality and school absenteeismLa narcolepsie, une maladie neurologique rare débute dans 50% des cas avant l'âge adulte, est caractérisée par la somnolence diurne excessive, cataplexie, la paralysie du sommeil et les hallucinations hypnagogiques. Ces manifestations affectent les aspects psychologiques, sociaux et scolaires des enfants. Sa physiopathologie est décrite par la perte de neurones à hypocrétine dans l'hypothalamus postérieur, probablement dû d'une attaque auto-immune, ainsi que par les systèmes à histamine. Au contraire de la narcolepsie adulte, les études pédiatriques ne sont pas nombreuses et peuvent être la lumière pour la compréhension de sa pathogenèse et de son évolution. L'objectif principal de la thèse est de caractériser la maladie et sa prise en charge dans population pédiatrique. Nous avons utilisé des bases de données clinique, anthropométriques, électrophysiologiques et pharmacologiques des enfants, adolescents et adultes narcoleptiques suivis dans les cinq Centres de Référence Nationale de Narcolepsie et d'Hypersomnie. Nous avons montré que la narcolepsie chez l'enfant peuvent avoir différents phénotypes, tels de da prise de poids rapide, de l'obésité, du TDAH, de la dépression, des allergies et autres, ainsi que les caractéristiques de la narcolepsie plus sévères que la population adulte, principalement l'obésité et le TDAH. Nous décrivons nos expériences du traitement et par le Pitolisant dans la narcolepsie. En conclusion, il existe un aspect distinctif de la narcolepsie adulte et pédiatrique (obésité et symptômes du TDAH plus sévères). L'obésité affecte environ 60% des enfants narcoleptiques, la plupart chez les jeunes au début de la maladie, et a un impact néfaste sur la qualité du sommeil et l'absentéisme scolaires. Le Pitolisant ont été efficace pour traiter la somnolence avec des améliorations sur la cataplexie, et bien que ont présenté un bon rapport risques/bénéfice

Narcolepsy in children : clinical characteristic and therapeutic approaches

La narcolepsie, une maladie neurologique rare débute dans 50% des cas avant l'âge adulte, est caractérisée par la somnolence diurne excessive, cataplexie, la paralysie du sommeil et les hallucinations hypnagogiques. Ces manifestations affectent les aspects psychologiques, sociaux et scolaires des enfants. Sa physiopathologie est décrite par la perte de neurones à hypocrétine dans l'hypothalamus postérieur, probablement dû d'une attaque auto-immune, ainsi que par les systèmes à histamine. Au contraire de la narcolepsie adulte, les études pédiatriques ne sont pas nombreuses et peuvent être la lumière pour la compréhension de sa pathogenèse et de son évolution. L'objectif principal de la thèse est de caractériser la maladie et sa prise en charge dans population pédiatrique. Nous avons utilisé des bases de données clinique, anthropométriques, électrophysiologiques et pharmacologiques des enfants, adolescents et adultes narcoleptiques suivis dans les cinq Centres de Référence Nationale de Narcolepsie et d'Hypersomnie. Nous avons montré que la narcolepsie chez l'enfant peuvent avoir différents phénotypes, tels de da prise de poids rapide, de l'obésité, du TDAH, de la dépression, des allergies et autres, ainsi que les caractéristiques de la narcolepsie plus sévères que la population adulte, principalement l'obésité et le TDAH. Nous décrivons nos expériences du traitement et par le Pitolisant dans la narcolepsie. En conclusion, il existe un aspect distinctif de la narcolepsie adulte et pédiatrique (obésité et symptômes du TDAH plus sévères). L'obésité affecte environ 60% des enfants narcoleptiques, la plupart chez les jeunes au début de la maladie, et a un impact néfaste sur la qualité du sommeil et l'absentéisme scolaires. Le Pitolisant ont été efficace pour traiter la somnolence avec des améliorations sur la cataplexie, et bien que ont présenté un bon rapport risques/bénéficesNarcolepsy is a rare neurological disease and it starts, in 50% of cases, before adulthood. It is characterized by excessive daytime sleepiness, cataplexy, sleep paralysis and hypnologic hallucinations, events that affect the psychological, social and school children. This pathophysiology is described by the loss of neurons in the posterior hypothalamus hypocretin, probably due to an autoimmune attack, and by histamine systems. Instead of narcolepsy adult, pediatric studies aren’t numerous and can be a light to the understanding of this pathogenesis and her evolution. The main objective of the thesis is to characterize the disease and her treatment in pediatric population. This rechearch used clinical databases, anthropometric, electrophysiological and pharmacological in children’s, adolescents and adults, with narcolepsy followed within five Centers National Reference Narcolepsy and hypersomnia. The results have shown that narcolepsy in children may have different phenotypes (rapid weight gain, obesity, ADHD, depression, allergies and others) and It can be most severe than adult population, principality obesity and ADHD. The thesis describes our experience of treatment and the utilization of pitolisant in narcolepsy (effective for treating sleepiness with improvements on cataplexy, has been presented a good risk/benefit ratio). In conclusion, there is a distinctive aspect of adult and pediatric narcolepsy (obesity and symptoms of more severe ADHD, in the way that obesity affects about 60% of narcoleptic children, most youth early in the disease, and has a negative impact on sleep quality and school absenteeis

Narcolepsy in children : clinical characteristic and therapeutic approaches

La narcolepsie, une maladie neurologique rare débute dans 50% des cas avant l'âge adulte, est caractérisée par la somnolence diurne excessive, cataplexie, la paralysie du sommeil et les hallucinations hypnagogiques. Ces manifestations affectent les aspects psychologiques, sociaux et scolaires des enfants. Sa physiopathologie est décrite par la perte de neurones à hypocrétine dans l'hypothalamus postérieur, probablement dû d'une attaque auto-immune, ainsi que par les systèmes à histamine. Au contraire de la narcolepsie adulte, les études pédiatriques ne sont pas nombreuses et peuvent être la lumière pour la compréhension de sa pathogenèse et de son évolution. L'objectif principal de la thèse est de caractériser la maladie et sa prise en charge dans population pédiatrique. Nous avons utilisé des bases de données clinique, anthropométriques, électrophysiologiques et pharmacologiques des enfants, adolescents et adultes narcoleptiques suivis dans les cinq Centres de Référence Nationale de Narcolepsie et d'Hypersomnie. Nous avons montré que la narcolepsie chez l'enfant peuvent avoir différents phénotypes, tels de da prise de poids rapide, de l'obésité, du TDAH, de la dépression, des allergies et autres, ainsi que les caractéristiques de la narcolepsie plus sévères que la population adulte, principalement l'obésité et le TDAH. Nous décrivons nos expériences du traitement et par le Pitolisant dans la narcolepsie. En conclusion, il existe un aspect distinctif de la narcolepsie adulte et pédiatrique (obésité et symptômes du TDAH plus sévères). L'obésité affecte environ 60% des enfants narcoleptiques, la plupart chez les jeunes au début de la maladie, et a un impact néfaste sur la qualité du sommeil et l'absentéisme scolaires. Le Pitolisant ont été efficace pour traiter la somnolence avec des améliorations sur la cataplexie, et bien que ont présenté un bon rapport risques/bénéficesNarcolepsy is a rare neurological disease and it starts, in 50% of cases, before adulthood. It is characterized by excessive daytime sleepiness, cataplexy, sleep paralysis and hypnologic hallucinations, events that affect the psychological, social and school children. This pathophysiology is described by the loss of neurons in the posterior hypothalamus hypocretin, probably due to an autoimmune attack, and by histamine systems. Instead of narcolepsy adult, pediatric studies aren’t numerous and can be a light to the understanding of this pathogenesis and her evolution. The main objective of the thesis is to characterize the disease and her treatment in pediatric population. This rechearch used clinical databases, anthropometric, electrophysiological and pharmacological in children’s, adolescents and adults, with narcolepsy followed within five Centers National Reference Narcolepsy and hypersomnia. The results have shown that narcolepsy in children may have different phenotypes (rapid weight gain, obesity, ADHD, depression, allergies and others) and It can be most severe than adult population, principality obesity and ADHD. The thesis describes our experience of treatment and the utilization of pitolisant in narcolepsy (effective for treating sleepiness with improvements on cataplexy, has been presented a good risk/benefit ratio). In conclusion, there is a distinctive aspect of adult and pediatric narcolepsy (obesity and symptoms of more severe ADHD, in the way that obesity affects about 60% of narcoleptic children, most youth early in the disease, and has a negative impact on sleep quality and school absenteeis

Chronic sleep deprivation, car driving and inter-individual vulnerability: snore and obstructive sleep apnea syndrome

Made available in DSpace on 2019-09-12T16:32:40Z (GMT). No. of bitstreams: 0 Previous issue date: 2011A privação do sono é a redução ou supressão do sono e pode comprometer a eficiência das vias aéreas superiores e o desempenho cognitivo. O objetivo desse estudo foi de analisar como a privação crônica do sono afeta o desempenho cognitivo na direção em motoristas roncadores. Fez-se uma revisão de literatura por meio de artigos das bases de dados. O presente estudo revelou que, após um período de privação de sono, os indivíduos normais tornam-se roncadores e os roncadores tornam-se apnéicos. Os indivíduos roncadores podem ter o sono fragmentado e, consequentemente, a sonolência diurna, diminui o desempenho em diversas tarefas, principalmente a direção.The sleep deprivation is the reduction or elimination of sleep and may compromise the efficiency of the upper airways and cognitive performance. The aim of this study was to examine how chronic sleep deprivation affects cognitive performance with the snoring drivers. Such compromises may contribute to traffic accidents. A literature review was made through sources of articles involving this disorder. This study revealed that after a period of sleep deprivation, the normal individuals, became snoring, and the snoring individuals became individuals’ apneics. Snoring individuals have their sleep fragmented and therefore may have daytime sleepiness. The daytime sleepiness is cause of reducing the performance of various tasks, and when such tasks include the direction, there is the inclusion of this activity in danger.[Inocente, Nancy Julieta] Universidade de Taubaté, BrazilReimão, Rubens] Universidade de São Paulo, BrazilInocente, Clara Odilia; Inocente, Janine Julieta] Université Victor Segalen Bordeaux 2, Franc

Impaired histaminergic neurotransmission in children with narcolepsy type 1

International audienceOBJECTIVE:Narcolepsy is a sleep disorder characterized in humans by excessive daytime sleepiness and cataplexy. Greater than fifty percent of narcoleptic patients have an onset of symptoms prior to the age of 18. Current general agreement considers the loss of hypothalamic hypocretin (orexin) neurons as the direct cause of narcolepsy notably cataplexy. To assess whether brain histamine (HA) is also involved, we quantified the cerebrospinal fluid (CSF) levels of HA and tele-methylhistamine (t-MeHA), the direct metabolite of HA between children with orexin-deficient narcolepsy type 1 (NT1) and controls.METHODS:We included 24 children with NT1 (12.3 ± 3.6 years, 11 boys, 83% cataplexy, 100% HLA DQB1*06:02) and 21 control children (11.2 ± 4.2 years, 10 boys). CSF HA and t-MeHA were measured in all subjects using a highly sensitive liquid chromatographic-electrospray/tandem mass spectrometric assay. CSF hypocretin-1 values were determined in the narcoleptic patients.RESULTS:Compared with the controls, NT1 children had higher CSF HA levels (771 vs 234 pmol/L, P < 0.001), lower t-MeHA levels (879 vs 1924 pmol/L, P < 0.001), and lower t-MeHA/HA ratios (1.1 vs 8.2, P < 0.001). NT1 patients had higher BMI z-scores (2.7 ± 1.6 vs 1.0 ± 2.3, P = 0.006) and were more often obese (58% vs 29%, P = 0.05) than the controls. Multivariable analyses including age, gender, and BMI z-score showed a significant decrease in CSF HA levels when the BMI z-score increased in patients (P = 0.007) but not in the controls. No association was found between CSF HA, t-MeHA, disease duration, age at disease onset, the presence of cataplexy, lumbar puncture timing, and CSF hypocretin levels.CONCLUSIONS:Narcolepsy type 1 children had a higher CSF HA level together with a lower t-MeHA level leading to a significant decrease in the t-MeHA/HA ratios. These results suggest a decreased HA turnover and an impairment of histaminergic neurotransmission in narcoleptic children and support the use of a histaminergic therapy in the treatment against narcolepsy

Attention-deficit/hyperactivity disorder (ADHD) symptoms in pediatric narcolepsy: a cross-sectional study

Pediatric patients with narcolepsy have high levels of treatment-resistant ADHD symptoms. The optimal treatment for ADHD symptoms in these patients warrants further evaluation in longitudinal intervention studies

Narcolepsy with cataplexy: Does age at diagnosis change the clinical picture?

International audienceObjective: To compare symptoms and sleep characteristics in patients diagnosed with narcolepsy-cataplexy (NC) before and after the age of 18 years.Methods: De novo patients with NC diagnosis completed a standardized questionnaire and interview, followed by a sleep study. The clinical and sleep measures were compared between patients diagnosed before (46 children, median age: 12 year old) and after (46 adults, median age: 28.5 year old) 18 years of age.Results: The frequency of obesity (54% vs 17%), night eating (29% vs 7%), parasomnia (89% vs 43%), sleep talking (80% vs 34%), and sleep drunkenness (69% vs 24%) were higher in children than in adults, the frequency of sleep paralysis was lower (20% vs 55%) but the frequency of cataplexy and the severity of sleepiness were not different. Children scored higher than adults at the attention-deficit/hyperactivity disorder (ADHD) scale. Depressive feelings affected not differently children (24%) and adults (32%). However, adults had lower quality of life than children. There was no difference between groups for insomnia and fatigue scores. Quality of life was essentially impacted by depressive feelings in both children and adults. Obstructive apnea-hypopnea index (OAHI) was lower in children with higher mean and minimal oxygen saturation than in adults. No between-group differences were found at the multiple sleep latency test. The body mass index (z-score) was correlated with OAHI (r = .32).Conclusion: At time of NC diagnosis, children have more frequent obesity, night eating, parasomnia, sleep talking, drunkenness, and ADHD symptoms than adults, even if sleepiness and cataplexy do not differ. These differences should be considered to ensure a prompt diagnosis