A Baseline Measurement of Quality of Life in 322 Adults With Osteogenesis Imperfecta

Gooijer, Koert; Harsevoort, Arjan G. J.; Dijk, Fleur S van; Withaar, Hendrikje Rik; Janus, Guus; Franken, Anton

doi:10.1002/jbm4.10416

Cited by 17 publications

(38 citation statements)

References 27 publications

(77 reference statements)

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“…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]. OI patients, therefore, may perceive their physical disorders and limitations differently from health care professionals.…”

Section: Discussionsupporting

confidence: 80%

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: 80%

Eat, Breathe, Sleep With Osteogenesis Imperfecta

LoMauro

Landoni

Fraschini

et al. 2021

Preprint

View full text Add to dashboard Cite

show abstract

“…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 ]. OI patients, therefore, may perceive their physical disorders and limitations differently from health care professionals.…”

Section: Discussionmentioning

confidence: 91%

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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“…Nonetheless, the phenotypes and clinical outcomes are still objective observations, which do not reflect the subjective well-being of OI patients suffering from this lifelong debilitating condition. The diverse range of clinical issues inflicted major physical and psychological distress on OI patients (15)(16)(17)(18), which greatly compromise their life quality and cause heavy socioeconomic burdens on their family and caregivers (19,20).…”

Section: Introductionmentioning

confidence: 99%

“…Quality of life (QoL) is a World Health Organization certified concept that measures the overall physical and mental well-being of an individual (15,19). Several studies have assessed health related QoL in OI patients and caregivers using the generic instruments, including Short Form Health Survey (SF-36) (15,16), EQ-5D-5 (17) and WHOQOL questionnaires (18). Such efforts improved the decision-making and communication between clinicians and patients, and increased patient satisfactions overall.…”

Section: Introductionmentioning

confidence: 99%

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Patient-Reported Outcomes in a Chinese Cohort of Osteogenesis Imperfecta Unveil Psycho-Physical Stratifications Associated with Clinical Manifestations

Chen¹,

Tan²,

Zhou³

et al. 2021

Preprint

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Background: Osteogenesis imperfecta (OI) is a rare congenital disorder that greatly compromises the quality of bones, inflicting debilitating distress both physically and psychologically to patients and caregivers. Over the decades, much efforts have been channeled towards understanding genetic mechanisms and exploring new treatments. Nonetheless, it has recently become more aware that the patient reported outcomes (PRO) and health status during treatment, healing and rehabilitation, are important basis that facilitates smoother communication, refines interventions strategies and achieves higher quality of life. To date, systematic studies and analyses of PRO in OI patients remain scarce.Results: Here, harnessing the Patient-Reported Outcomes Measurement Information System (PROMIS), we report a cross-sectional and longitudinal study in a cohort of 90 OI patients from southern China, covering both children and adult age-groups. In the young group where both self and parental surveys were obtained, we identified two clusters of comparable sizes showing different outlooks in physical mobility and emotional experiences. One cluster is more positive about themselves than the other. Remarkably, we found a concordance of 84.7% between self and parental assessments, suggesting the stability of the stratification and validity of the PROMIS instruments. We further found that clinical subtyping, deformity, leg length discrepancy and limited joint mobility were significantly associated with this patient stratification, with the cluster with poorer physical functioning and higher psychological depression showing higher percentage of more severe deformity. Analyses of longitudinal data suggested that patients tend to stay in the same psychological state, in both clusters. Adult patients also showed a continuous spectrum of self-evaluation that matches their clinical manifestations. Conclusion: By probing deep into the subjective quantitation of patient reported outcomes, our study demonstrates the diverse sociopsychological spectrum among OI patients that matches their objective clinical manifestations, which may serve as the basis for evaluating clinical interventions and help achieve better patient-centric medical practices and health maintenance.

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A Baseline Measurement of Quality of Life in 322 Adults With Osteogenesis Imperfecta

Cited by 17 publications

References 27 publications

Eat, Breathe, Sleep With Osteogenesis Imperfecta

Eat, Breathe, Sleep With Osteogenesis Imperfecta

Eat, breathe, sleep with Osteogenesis Imperfecta

Patient-Reported Outcomes in a Chinese Cohort of Osteogenesis Imperfecta Unveil Psycho-Physical Stratifications Associated with Clinical Manifestations

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