Fatigue in adults with Osteogenesis Imperfecta

Harsevoort, Arjan G. J.; Gooijer, Koert; Dijk, Fleur S van; Grijn, Daniëlle A. F. M. van der; Franken, Anton; Dommisse, Anne Marieke V.; Janus, Guus

doi:10.1186/s12891-019-3000-7

Cited by 17 publications

(27 citation statements)

References 26 publications

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“…In addition, because of the recurrent fractures, severe OI patients are used to experience pain and fatigue since childhood and therefore they may develop higher level of tolerance, as indicated by the paradoxically good scores of the quality of life questionnaire. Indeed, these answers counteracted the expected low quality of life and higher fatigue [50,51], but they are also in line with the cross-sectional questionnaire study by Arponen and colleagues [42]. Such difference between physical severity (assessed by physical function) and subjective severity perception (assessed by general health perception) in OIers was recently pointed out by another author [52].…”

Section: Discussionsupporting

confidence: 79%

Eat, Breathe, Sleep With Osteogenesis Imperfecta

LoMauro

Landoni

Fraschini

et al. 2021

Preprint

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Background: Although Osteogenesis Imperfecta (OI) affects the connective tissue causing extremely brittle bones with consequent skeletal deformities, it is important to go beyond bones. Indeed, the quality of life in OI does not only depends on bones status, as OI might affect also other important functions. We have therefore implemented a multidisciplinary study to assess lung function, breathing pattern, sleep quality and nutritional status in 27 adult OI type III and IV patients (median age: 34.6 years; 19 women; 14 type III).Results: According to nocturnal oxygen desaturation, two groups were identified: 13 patients with (OI_OSA, incidence: 48.2%) and 14 without (no_OSA) obstructive sleep apnea. The former was characterized by higher spinal and ribcage deformity, by more restrictive lung function, by paradoxical thoracic breathing in supine position, by rapid and shallow breathing, by higher body mass index, by longer neck and waist circumferences; by higher abdominal volume and by greater percentage of body fat mass, particularly localized in the trunk. The best predictor of OI_OSA was the negative value of the supine ribcage contribution to tidal volume, followed by the ratio between the neck and the waist circumferences with body height and the supine thoraco-abdominal volumes phase shift angle. Conclusions: The pathophysiology of OI ensued a dangerous vicious circle, in which breathing, sleep and nutritional status are tightly linked, and they might all end up in negatively affecting the quality of life. The vicious circle is fed by some intrinsic characteristics of the disease (thoracic, cranial and mandibular deformities) and some bad daily habits of the patients (i.e. physical inactivity and low dietary quality). The former impacts on restricting the respiratory function, the latter makes Olers more prone to experience overweight or obesity. The main consequence is a high incidence of obstructive sleep apnea, which remains an underdiagnosed disorder in individuals with severe OI who are obese, with a neck to height ratio over than 31.6%, and characterized by paradoxical breathing in supine position. A multidisciplinary approach, including evaluations of breathing, sleep and nutrition, is required to better manage the disease and fulfil the maximizing well-being of OI patients.

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Section: Discussionsupporting

confidence: 79%

Eat, Breathe, Sleep With Osteogenesis Imperfecta

LoMauro

Landoni

Fraschini

et al. 2021

Preprint

View full text Add to dashboard Cite

show abstract

“…In addition, because of the recurrent fractures, severe OI patients are used to experience pain and fatigue since childhood and therefore they may develop higher level of tolerance, as indicated by the paradoxically good scores of the quality of life questionnaire. Indeed, these answers counteracted the expected low quality of life and higher fatigue [ 50 , 51 ], but they are also in line with the cross-sectional questionnaire study by Arponen and colleagues [ 41 ]. Such difference between physical severity (assessed by physical function) and subjective severity perception (assessed by general health perception) in OIers was recently pointed out by another author [ 52 ].…”

Section: Discussionsupporting

confidence: 78%

Eat, breathe, sleep with Osteogenesis Imperfecta

LoMauro

Landoni

Fraschini

et al. 2021

Orphanet J Rare Dis

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Background Although Osteogenesis Imperfecta (OI) affects the connective tissue causing extremely brittle bones with consequent skeletal deformities, it is important to go beyond bones. Indeed, the quality of life in OI does not only depend on bones status, as OI might affect also other important functions. We have therefore implemented a multidisciplinary study to assess lung function, breathing pattern, sleep quality and nutritional status in 27 adult OI type III and IV patients (median age: 34.6 years; 19 women; 14 type III). Results According to nocturnal oxygen desaturation, two groups were identified: 13 patients with (OI_OSA, incidence: 48.2%) and 14 without (no_OSA) obstructive sleep apnea. The former was characterized by higher spinal and ribcage deformity, by more restrictive lung function, by paradoxical thoracic breathing in supine position, by rapid and shallow breathing, by higher body mass index, by longer neck and waist circumferences; by higher abdominal volume and by greater percentage of body fat mass, particularly localized in the trunk. The best predictor of OI_OSA was the negative value of the supine ribcage contribution to tidal volume, followed by the ratio between the neck and the waist circumferences with body height and the supine thoraco-abdominal volumes phase shift angle. Conclusions The pathophysiology of OI ensued a dangerous vicious circle, in which breathing, sleep and nutritional status are tightly linked, and they might all end up in negatively affecting the quality of life. The vicious circle is fed by some intrinsic characteristics of the disease (thoracic, cranial and mandibular deformities) and some bad daily habits of the patients (i.e. physical inactivity and low dietary quality). The former impacts on restricting the respiratory function, the latter makes Olers more prone to experience overweight or obesity. The main consequence is a high incidence of obstructive sleep apnea, which remains an underdiagnosed disorder in individuals with severe OI who are obese, with a neck to height ratio over than 31.6%, and characterized by paradoxical breathing in supine position. A multidisciplinary approach, including evaluations of breathing, sleep and nutrition, is required to better manage the disease and fulfil the maximizing well-being of OI patients.

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“…While some information is available regarding targeted profiles of motor skill development in children for varying forms of skeletal dysplasia such as achondroplasia [7][8][9][10] and osteogenesis imperfecta [11,12], several research groups have highlighted issues with functional capacity post childhood. A significant number of adults with skeletal dysplasia develop physical limitations, pain and fatigue which impacts on their quality of life [13][14][15][16][17]. Recent studies have more specifically considered the relationship between pain and function and noted that chronic pain is prevalent in individuals with skeletal dysplasia, and associated with poor physical function [18,19].…”

Section: Introductionmentioning

confidence: 99%

Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia

Ireland

Savarirayan

Pocovi

et al. 2021

Orphanet J Rare Dis

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Background Skeletal dysplasia are genetic disorders of cartilage and bone, characterized by impairments commonly resulting in short stature, altered movement biomechanics, pain, fatigue and reduced functional performance. While current tools quantify functional mobility performance, they have not been standardly used in this population group and do not capture patient-reported symptoms such as pain or fatigue. This study evaluated a new tool, the Screening Tool for Everyday Mobility and Symptoms (STEMS), designed to accurately and objectively assess functional mobility and associated symptomology for individuals with skeletal dysplasia. Methods Individuals aged 5–75 years with a skeletal dysplasia completed the STEMS, the Functional Mobility Scale (FMS) and Six Minute Walk Test (6MWT). The correlation among the STEMS, use of mobility aides, FMS and 6MWT normalised for leg length was calculated. One-way analysis of variance compared the STEMS symptomatology to normalised 6MWT distance. Results One hundred and fifty individuals with skeletal dysplasia (76 achondroplasia, 42 osteogenesis imperfecta, 32 other; 74 < 18 years, 76 ≥ 18 years) participated. Almost two thirds of the group reported pain and/or fatigue when mobilising at home, at work or school and within the community, but only twenty percent recorded use of a mobility device. The STEMS setting category demonstrated highly significant correlations with the corresponding FMS category (r = − 0.983 to − 0.0994, all p < 0.001), and a low significant correlation with the normalised 6MWT distance (r = − 0.323 to − 0.394, all p < 0.001). A decreased normalised 6MWT distance was recorded for individuals who reported symptoms of pain and/or fatigue when mobilising at home or at work/school (all p ≤ 0.004). Those who reported pain only when mobilising in the community had a normal 6MWT distance (p = 0.43–0.46). Conclusions The Screening Tool for Everyday Mobility and Symptoms (STEMS) is a useful new tool to identify and record mobility aide use and associated self-reported symptoms across three environmental settings for adults and children with skeletal dysplasia. The STEMS may assist clinicians to monitor individuals for changes in functional mobility and symptoms over time, identify individuals who are functioning poorly compared to peers and need further assessment, and to measure effectiveness of treatment interventions in both clinical and research settings.

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Fatigue in adults with Osteogenesis Imperfecta

Cited by 17 publications

References 26 publications

Eat, Breathe, Sleep With Osteogenesis Imperfecta

Eat, Breathe, Sleep With Osteogenesis Imperfecta

Eat, breathe, sleep with Osteogenesis Imperfecta

Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia

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