Positive airway pressure therapy for obstructive sleep apnea in patients with Osteogenesis imperfecta: a prospective pilot study

Abstract

Background Obstructive sleep apnea (OSA) is prevalent in individuals with Osteogenesis imperfecta (OI). To date, no study has investigated treatment of OSA in adult individuals with OI using positive airway pressure (PAP). This observational pilot study examined the adherence of adults with OI to treatment of OSA with PAP therapy, and the evolution of self-experienced sleepiness and depression symptoms before and after treatment. Methods We included 20 patients, with a mean age of 51 years, who represented varying severity of OI and displayed an apnea and hypopnea index ≥ 5 /sleeping hour as recorded by an overnight polysomnography. PAP therapy was proposed to all patients. Epworth Sleepiness Scale (ESS) questionnaire to evaluate daytime sleepiness, and a validated self-rating depression questionnaire to identify possible depression, were completed prior to PAP therapy and repeated after a minimum of one year. The datasets supporting the conclusions of this article are included within the article. Results From the 20 patients, 15 initiated PAP therapy, and two patients later interrupted it. The mean PAP follow-up period was 1230 days. At baseline, an abnormally high ESS score was reported by 29% of the respondents, and an abnormally high number of symptoms suggesting depression by 29%. Follow-up questionnaires were completed by 60% of the patients, of whom 83% were adherent to PAP treatment. ESS score and depression symptoms did not decrease significantly with PAP therapy. Conclusions Patients with OI accepted well PAP therapy and remained compliant. Sleepiness and depression persisted unaltered despite good PAP adherence. These unexpectedly poor improvements in symptoms by PAP therapy may be due to subjective depression symptoms and the complexity of factors underlying persisting sleepiness in OI. Further research is needed to confirm this novel finding.

Eat, Breathe, Sleep With Osteogenesis Imperfecta

“…However, OI is a rare disease and, even if the exact incidence of types III and IV OI is not known, the incidence is much less common than all OI types. In addition, the systematic paradoxical breathing movement and the OSA incidence found are in line with those published on other groups of OIers[8, 12,13,42], therefore reinforcing the robustness and the clinical relevance of our results. The physical function was not tested, but it was recently proved to be markedly deteriorated during adulthood, with mobility being signi cantly different across the types particularly in type III [45].…”

“…It is also the only one to simultaneously consider three vital functions (nutrition, breathing and sleeping) that have an important impact on the quality of life. Indeed, other authors have separately investigated sleep [12,13,44,53] or respiratory impairment [6][7][8][9][10][11] or nutrition [17-19, 46, 47].…”

“…Because in the most severe OI form these alterations systematically occur at rest in supine position, we wonder if they may negatively affect sleep. Indeed, obstructive sleep apnea is recently shown to easily be left as an undetected disorder in OIers [12,13]. This is a crucial problem, since sleep disordered breathing causes, among others, excessive daytime somnolence with negative effects on attention and vigilance, therefore reducing the quality of life.…”

Eat, breathe, sleep with Osteogenesis Imperfecta

“…It is also the only one to simultaneously consider three vital functions (nutrition, breathing and sleeping) that have an important impact on the quality of life. Indeed, other authors have separately investigated sleep [12,13,41,44] or respiratory impairment [6][7][8][9][10][11] or nutrition [17-19, 46, 47]. The latter was shown to negatively impact the psychosocial wellbeing in the OI population and to limit daily physical activity [53].…”

A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta

“…Additionally, the OI sample reported lower levels of satisfaction with social roles and greater levels of anxiety and depression compared to population level norms; although statistically significant, clinical significance for anxiety and depression was not observed, suggesting that levels of anxiety and depression for the sample were comparable to the general population. Subsequent studies have provided inconsistent findings regarding mental health, with some finding elevated levels of anxiety and depression (Arponen et al, 2021;Barlow et al, 2022;Tosi et al, 2019), and others suggesting that these concerns may not be elevated within an adult OI population (Bendixen et al, 2018). Research among children and families with OI has also included evaluation of psychosocial challenges, with similarly varied results across studies which provide evidence for both positive and negative psychosocial outcomes as a result of OI status (Dogba et al, 2013(Dogba et al, , 2014Hill et al, 2014;Santos et al, 2017;Wiggins & Kreikemeier, 2017).…”