Fatigue and disturbances of sleep in patients with osteogenesis imperfecta – a cross-sectional questionnaire study

Abstract

BackgroundPersisting fatigue has been reported to be a common complaint by individuals with connective tissue disorders, including Osteogenesis imperfecta (OI). This controlled study evaluated in an adult OI population the subjective experience of fatigue, affecting daily life. Sleep disturbances and chronic pain were examined as hypothesized underlying factors.MethodsThis cross-sectional study analyzed the answers of 56 OI patients and 56 matched healthy controls to a questionnaire, designed to evaluate levels of experienced fatigue and bodily pain, as well as the presence or absence of symptoms related to sleep disturbances or sleep apnea. The relationships between fatigue, pain, and sleep disturbances were evaluated with correlation analysis and regression analysis.ResultsFatigue was reported by 96%, and daily pain by 87% of the individuals with OI. Notably, the level of fatigue was similarly experienced by patient respondents and controls. In total, 95% of the patients and 77% of the controls reported one to several sleep disturbance symptoms. These symptoms as well as previously diagnosed sleep apnea were statistically significantly more prevalent in the patient group than in the controls (p < 0.05). Likewise, the experienced bodily pain was statistically highly significantly more severe among the respondents with OI (p < 0.001), and correlated with the reported fatigue.ConclusionsIn comparison with age-matched controls, adults with OI do not differ in experienced fatigue, unlike hypothesized. Therefore, sleep disturbances, which based on the frequency of reported related symptoms and previous sleep apnea diagnoses appear to be common in OI patients, may remain undiagnosed.Electronic supplementary materialThe online version of this article (10.1186/s12891-017-1922-5) contains supplementary material, which is available to authorized users.

Fatigue in adults with Osteogenesis Imperfecta

“…A comparable study was recently performed in Norway by Arponen et al [9]. It concerned a cross-sectional study of responses of OI patients matched with healthy controls from Norway to a questionnaire, designed to evaluate levels of experienced fatigue and body pain as well as presence or absence of symptoms related to sleep disturbance or sleep apnoea.…”

“…Interestingly, the Norwegian control group scored a mean FSS score of 4 (n = 56). Arponen et al concluded that in comparison with age and gender matched controls, adults with OI do not differ in experienced fatigue [9].…”

“…However, many patients visiting our expert center for adults with OI complained about fatigue, which limits their quality of life, and asked whether this could be related to their diagnosis of OI. Previous studies indicate that the quality of life (QoL) of individuals with OI is negatively influenced by reduced function due to fatigue indicating that fatigue is an important factor when considering quality of life in OI patients [7][8][9][10]. As such, we approached a subgroup of our total group of OI patients to investigate the impact of fatigue on daily functioning compared to control populations.…”

Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders

“…In adulthood with OI, sleep disturbances appeared to be common, but remain frequently undiagnosed (70). Mild sleep respiratory disturbance was reported in most cases of OI, while in a minority, were observed significant desaturations during sleep (71).…”

Osteogenesis Imperfecta: New Perspectives From Clinical and Translational Research

“…A web‐based survey found that self‐reported sleep apnea was present in 32% of adults with severe OI, in 17% with moderate OI, and in 9% with mild OI . In a Finnish study, 15% of adults with OI (all types combined) had “diagnosed sleep apnea and used a positive airway pressure ventilator during sleep.” In a French cohort of 188 children with OI, 6.4% had sleep‐disordered breathing as documented by polysomnography . Thus, sleep apnea may be a potentially serious, but little‐studied aspect of OI.…”