Dreaming of a good night’s sleep and a day without caffeine

By Heidi Arponen, OIFE Medical Advisory Board

In 2015 we started a project to study fatigue, quality of sleep and its relation to daytime well-being at Foto of Heidi Arponenthe University of Helsinki and Helsinki University Hospital. Initial motivation for the study arose from reports of individuals with OI on persisting daytime tiredness at international scientific OI congresses. In previously published studies, OI has been linked with fatigue ie. lingering tiredness (Takken et al. 2004, VanBrussel et al. 2008). Research design was drawn by professors Janna Waltimo-Sirén and Outi Mäkitie. Our aim has been to explore the experience of fatigue and pain, as well as prevalence of sleep disturbances, affecting quality of living. We wanted to find out whether a medically treatable cause for the fatigue would be present. First, we conducted a questionnaire here in Finland, and then all those who were willing and able came to an overnight sleep study to look for sleep apnea. Our project was financed by Care4BrittleBones, Finnish Women Dentists’ Association, Finnish Dental Society, Sigrid Juselius Foundation, Finnish Foundation for Pediatric Research, Academy of Finland, Folkhälsan Research Foundation, and Helsinki University Hospital Research Fund.

As a result of the study, we found unexpectedly that daytime tiredness was equally experienced by the healthy controls and adults with OI. Tiredness is a subjective feeling and can be related to a number of causes. As could be expected, pain was a common problem among our 56 adults with OI. The more pain an individual had, the more exhausted they felt.

Majority of those individuals with OI and suffering from fatigue also reported of sleep disturbances. Sleep related problems were more common in OI population as compared to controls. Sleep apnea is a potentially serious disorder where breathing repeatedly pauses during sleep. If you feel tired even after a full night’s sleep, or you snore while sleeping, you might have sleep apnea. Sleep apnea is a major public health problem and can be harmful for bone health.

Following the sleep study, we found sleep apnea in as many as half of the 26 participants. Surprisingly, the presence and severity of sleep apnea did not show a connection with features usually related to it; such as severity of daytime sleepiness, anatomical narrowing of the upper airways, experienced depression symptoms, pain, or severity of OI. This fact might increase the risk of medical professionals not recognizing sleep apnea in individuals with OI, without conducting a sleep study.

Therefore, an overnight sleep study at a sleep laboratory is important in diagnosing sleep apnea. Treatment of sleep apnea include weight control, CPAP machine use during sleep, and an oral appliance that brings the lower jaw forward. Of these, the oral appliance is not suitable for persons with OI. In the future, more studies on larger participant groups would be useful in further exploring sleep in OI population.

I wish to acknowledge the help provided by the Finnish Osteogenesis Imperfecta Association in participant recruitment and Care4BrittleBones in financing the sleep studies. Together we can achieve more.

1. Arponen Heidi, Waltimo-Sirén Janna, Valta Helena, Mäkitie Outi. Fatigue and disturbances of sleep in patients with osteogenesis imperfecta – a cross-sectional questionnaire study. BMC Musculoskelet Disord 2018.
2. Arponen Heidi. Bachour Adel, Bäck Leif, Valta Helena, Mäkitie Antti, Mäkitie Outi, Waltimo-Sirén Janna. Is sleep apnea underdiagnosed in adult patients with Osteogenesis imperfecta? –A single-center cross sectional study. Orphan J Rare Dis 2018.