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

Heidi Arponen, Janna Waltimo-Sirén, Helena Valta, Outi Mäkitie, Heidi Arponen, Janna Waltimo-Sirén, Helena Valta, Outi Mäkitie

Abstract

Background: Persisting 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.

Methods: This 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.

Results: Fatigue 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.

Conclusions: In 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.

Keywords: Fatigue; Osteogenesis imperfecta; Quality of life; Sleep disturbances.

Conflict of interest statement

Ethics approval and consent to participate

Ethical approval: The study was approved by the Research Ethics Committee, Helsinki University Hospital. All procedures performed were in accordance with the ethical standards of the institutional and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent was obtained from all individual participants included in the study. As decided by the Research Ethics Committee, Helsinki University Hospital, an additional parental consent was not required for the participants aged 16 and 17.

Consent for publication

Not applicable

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

References

    1. Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004;363(9418):1377–1385. doi: 10.1016/S0140-6736(04)16051-0.
    1. Sillence DO, Rimoin DL, Danks DM. Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity. Birth Defects. 1979;15:113–129.
    1. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16:101–116. doi: 10.1136/jmg.16.2.101.
    1. Thomas IH, DiMeglio LA. Advances in the classification and treatment of osteogenesis imperfecta. Curr Osteopor Rep. 2016;14(1):1–9. doi: 10.1007/s11914-016-0299-y.
    1. Van Dijk FS, Byers PH, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, et al. EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. Eur J Hum Genet. 2012;20:11–19. doi: 10.1038/ejhg.2011.141.
    1. Basel D, Steiner RD. Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition. Genet Med. 2009;11(6):375–385. doi: 10.1097/GIM.0b013e3181a1ff7b.
    1. Wekre LL, Kjensli A, Aasand K, Falch JA, Eriksen EF. Spinal deformities and lung function in adults with osteogenesis imperfecta. Clin Respir J. 2014;8:437–443. doi: 10.1111/crj.12092.
    1. Hill CL, Baird WO, Walters SJ. Quality of life in children and adolescents with osteogenesis imperfecta: a qualitative interview based study. Health Qual Life Out. 2014;12:54. doi: 10.1186/1477-7525-12-54.
    1. Tosi LL, Oetgen ME, Floor MK, Huber MB, Kennelly AM, McCarter RJ, et al. Initial report of the osteogenesis imperfecta adult natural history initiative. Orphanet J Rare Dis. 2015;10:146. doi: 10.1186/s13023-015-0362-2.
    1. Vanz AP, Félix TM, Rocha NS, Schwartz IVD. Quality of life in caregivers of children and adolescents with osteogenesis imperfecta. Health Qual Life Out. 2015;13:41. doi: 10.1186/s12955-015-0226-4.
    1. Tsimicalis A, Denis-Larocque G, Michalovic A, Lepage C, Williams K, Yao TR, et al. The psychosocial experience of individuals living with osteogenesis imperfecta: a mixed-methods systematic review. Qual Life Res. 2016;25(8):1877–1896. doi: 10.1007/s11136-016-1247-0.
    1. Borodulin K, Levälahti E, Saarikoski L, Lund L, Juolevi A, Grönholm M, et al. National Finriski health study. National Institute for Health and Welfare. Report. 2013;022:2.
    1. Shen J, Barbera J, Shapiro CM. Distinguishing sleepiness and fatigue: focus on definition and measurement. Sleep Med Rev. 2006;10(1):63–76. doi: 10.1016/j.smrv.2005.05.004.
    1. Scheper MC, Juul-Kristensen B, Rombaut L, Rameckers EA, Verbunt J, Engelbert RH. Disability in adolescents and adults diagnosed with hypermobility related disorders: a meta-analysis. Arch Phys Med Rehab. 2016;97:2174–2187. doi: 10.1016/j.apmr.2016.02.015.
    1. Bathen T, Velvin G, Rand-Hendriksen S, Robinson HS. Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors. Am J Med Genet. 2014;164A:1931–1939. doi: 10.1002/ajmg.a.36574.
    1. Takken T, Terlingen HC, Helders PJ, Pruijs H, Van der Ent CK, Engelbert RH. Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I. J Pediatr. 2004;145(6):813–818. doi: 10.1016/j.jpeds.2004.08.003.
    1. Gentry BA, Ferreira JA, McCambridge AJ, Brown M, Phillips CL. Skeletal muscle weakness in osteogeneis imperfecta mice. Matrix Biol. 2010;29:638–644. doi: 10.1016/j.matbio.2010.06.006.
    1. Veilleux L-N, Lemay M, Pouliot-Laforte A, Cheung MS, Glorieux FH, Rauch F. Muscle anatomy and dynamic muscle function in osteogenesis imperfecta type I. J Clin Endocrinol Metab. 2014;99(2):E356–E362. doi: 10.1210/jc.2013-3209.
    1. Pouliot-Laforte A, Veilleux L-N, Rauch F, Lemay M. Physical activity in youth with osteogenesis imperfecta type I. J Musculoskel Neuron Interact. 2015;15(2):171–176.
    1. Palomo T, Glorieux FH, Schoenau E, Rauch F. Body composition in children and adolescents with osteogenesis imperfect. J Pediatr. 2016;169:232–237. doi: 10.1016/j.jpeds.2015.10.058.
    1. Van Brussel M, Takken T, Uiterwaal CS, Pruijs HJ, Van der Net J, Helders PJ, Engelbert RH. Physical training in children with osteogenesis imperfecta. J Pediatr. 2008;152:111–116. doi: 10.1016/j.jpeds.2007.06.029.
    1. Taylor DJ, Mallory LJ, Lichstein KL, Durrence HH, Riedel BW, Bush AJ. Comorbidity of chronic insomnia with medical problems. Sleep. 2007;30(2):213–218. doi: 10.1093/sleep/30.2.213.
    1. Morphy H, Dunn KM, Lewis M, Boardman HF, Croft PR. Epidemiology of insomnia: a longitudinal study in a UK population. Sleep. 2007;30(3):274–280.
    1. Dahan-Oliel N, Oliel S, Tsimicalis A, Montpetit K, Rauch F, Dogba MJ. Quality of life in osteogenesis imperfecta: a mixed-methods systematic review. Am J Med Genet. 2016;170A:62–76. doi: 10.1002/ajmg.a.37377.
    1. McNicholas WT. Diagnosis of obstructive sleep apnea in adults. Proc Am Thorac Soc. 2008;5:154–160. doi: 10.1513/pats.200708-118MG.
    1. Laitinen LA, Anttalainen U, Pietinalho A, Hämäläinen P, Koskela K. Expert advisory group listed in foreword. Sleep apnoea: Finnish national guidelines for prevention and treatment 2002-2012. Respir Med. 2003;97(4):337–365. doi: 10.1053/rmed.2002.1449.
    1. Solow B, Siersbaek-Nielsen S, Greve E. Airway adequacy, head posture, and craniofacial morphology. Am J Orthod. 1984;86:214–223. doi: 10.1016/0002-9416(84)90373-7.
    1. Al Lawati NM, Patel SR, Ayas NT. Epidemiology, risk factors, and consequences of obstructive sleep apnea and short sleep duration. Prog Cardiovasc Dis. 2009;51:285–293. doi: 10.1016/j.pcad.2008.08.001.
    1. Schlosshan D, Elliott MW. Review: clinical presentation and diagnosis of the obstructive sleep apnoea hypopnoea syndrome. Thorax. 2004;59:347–352. doi: 10.1136/thx.2003.007179.
    1. Bixler EO, Vgontzas AN, Lin HM, Calhoun SL, Vela-Bueno A, Kales A. Excessive daytime sleepiness in a general population sample: the role of sleep apnea, age, obesity, diabetes, and depression. J Clin Endocrinol Metab. 2005;90(8):4510–4515. doi: 10.1210/jc.2005-0035.
    1. Vgontzas AN, Bixler EO, Chrousos GP. Obesity-related sleepiness and fatigue: the role of the stress system and cytokines. Ann N.Y. Acad Sci. 2006;1083:329–344. doi: 10.1196/annals.1367.023.
    1. Adams RJ, Appleton SL, Vakulin A, Lang C, Martin SA, Taylor AW, et al. Association of daytime sleepiness with obstructive sleep apnoea and comorbidities varies by sleepiness definition in a population cohort of men. Respirology. 2016;21(7):1314–1321. doi: 10.1111/resp.12829.
    1. Riemann D, Spiegelhalder K, Espe C, Pollmächer T, Léger D, Bassetti C, et al. Chronic insomnia: clinical and research challenges–an agenda. Pharmacopsychiatry. 2011;44:1–14. doi: 10.1055/s-0031-1275303.
    1. Innes KE, Selfe TK, Agarwal P. Prevalence of restless legs syndrome in north American and western European populations: a systematic review. Sleep Med. 2011;12:623–634. doi: 10.1016/j.sleep.2010.12.018.
    1. Aritake S, Blackwell T, Peters KW, Rueschman M, Mobley D, Morrical MG, et al. Osteoporotic fractures in men (MrOS) study research group. Prevalence and associations of respiratory-related leg movements: the MrOS sleep study. Sleep Med. 2015;16(10):1236–1244. doi: 10.1016/j.sleep.2015.06.012.
    1. Ferreira-Valente MA, Pais-Ribeiro JL, Jensen MP. Validity of four pain intensity rating scales. Pain. 2011;152(10):2399–2404. doi: 10.1016/j.pain.2011.07.005.
    1. Lee KA, Hicks G, Nino-Murcia G. Validity and reliability of a scale to assess fatigue. Psychiatry Res. 1991;36:291–298. doi: 10.1016/0165-1781(91)90027-M.
    1. Bishop N, Adami S, Ahmed SF, Antón J, Arundel P, Burren CP, et al. Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial. Lancet. 2013;382:1424–1432. doi: 10.1016/S0140-6736(13)61091-0.
    1. Salehpour S, Tavakkoli S. Cyclic pamidronate therapy in children with osteogenesis imperfecta. J Pediatr Endocrinol Metab. 2010;23:73–80. doi: 10.1515/JPEM.2010.23.1-2.73.

Source: PubMed

スポンサーと協力者

医学的状態

薬物療法

3
購読する