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Identification des facteurs prédictifs d'apnées du sommeil dans la trisomie 21

Abstract : Down syndrome (DS) is a congenital anomaly which is associated with many clinical affections. Among them sleep apnea syndrome is observed in 80% of the Down syndrome population compared to 7-13% in the general population.While sleep apnea syndrome induces an exacerbation of cardiovascular, cognitive and endocrine disorders, it remains poorly diagnosed in classical care programs.In the population with DS, SAS is associated with many clinical characteristics like genetic, morphologic, endocrine and metabolic disorders. These disorders are exacerbated with age, however when DS patients become adults, they don’t have a rigorous health care program and their disorders are less watched.In order to have a faster and more efficient diagnosis of SAS in adults with DS, it would be interesting to determine which risk factors are the most involved in the development of this sleep disorder.The objectives of this doctoral work are to highlight the health characteristics of a population of adults with DS, and then to determine the most predictive factors of sleep apnea syndrome.Forty adults with DS volunteered for our research (30±7 years old), with 24 men and 16 women. They were assessed on physical fitness, biology, biometry, sleep and autonomic nervous system tests. These assessments allowed to review health characteristics of this population, and to identify differences between genders and diagnosis of SAS. The data acquisition allowed to determine which factors were the most predictive of a SAS regarding the interest variable: the apnea-hypopnea index, which characterizes the SAS severity.In our study, more than 72% of the participants present a SAS. Our participants presented anomalies of biologic and autonomic profile, and an altered physical fitness. These first results show that people with DS need systematic screening for biologic profile (TSH), but also a more rigorous SAS diagnosis in order to limit deleterious outcomes on health quality of life.The second analyses allowed to highlight numerous risks factors of SAS in our population. The main determining factor is morphologic, with the value of gonion angle. Biologic markers such as ferritin and basophils are other determining factors of SAS, as well as maximal O2 consumption and autonomic profile.Thus, as part of a classical health care program, it would be interesting to explore these biological variables and, when they are abnormal, to associate them with a possible sleep apnea syndrome. As the gonion angle is a strong determining factor, a radiography should be prescribed when the morphologic characteristics of Down syndrome are strongly marked.
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Léa Dumortier. Identification des facteurs prédictifs d'apnées du sommeil dans la trisomie 21. Génétique humaine. Université Grenoble Alpes, 2019. Français. ⟨NNT : 2019GREAS039⟩. ⟨tel-02894011v2⟩

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