Mobility in osteogenesis imperfecta: a multicenter North American study

Kruger, Karen M.; Caudill, Angela; Celin, Mercedes Rodríguez; Nagamani, Sandesh C.S.; Shapiro, Jay R.; Steiner, Robert D.; Bober, Michael B.; Hart, Tracy; Cuthbertson, David; Krischer, Jeff; Byers, Peter H.; Durigova, Michaela; Glorieux, Francis H.; Rauch, Frank; Sutton, V. Reid; Lee, Brendan; Rush, Eric T.; Smith, Peter A.; Harris, Gerald F.

doi:10.1038/s41436-019-0491-4

Cited by 17 publications

(16 citation statements)

References 48 publications

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“…The most used clinical classification of OI, still valid, was proposed by Sillence et al, who divided the disease into four distinct types, categorized from mild to lethal. 5 , 6 The mild form, type I, is related to quantitative mutations by the identification of collagen deficiency, with a reduction in the amount of collagen. Type II is the lethal form characterized by lethality in the perinatal period or shortly after birth.…”

Section: Introductionmentioning

confidence: 99%

“… 9 As a consequence, the treatment could be an aid to improve mobility and independence in the activities of daily living. 5 …”

Section: Introductionmentioning

confidence: 99%

“…Despite the physical limitations of children and adolescents with OI, there is lack of information regarding the ambulatory characteristics, strength, and functional capacity of patients with OI, particularly from those classified with the more severe forms. 5 Given the rarity of OI, there is a challenge in providing evidence-based answers to clinical practice. Studies comprising rare diseases can lead to a better understanding of the natural history of the disease, generating hypotheses for further research.…”

Section: Introductionmentioning

confidence: 99%

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Postural balance, handgrip strength and mobility in Brazilian children and adolescents with osteogenesis imperfecta

Coelho

Luiz²,

Castro³

et al. 2021

Jornal de Pediatria

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Section: Introductionmentioning

confidence: 99%

“… 9 As a consequence, the treatment could be an aid to improve mobility and independence in the activities of daily living. 5 …”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Postural balance, handgrip strength and mobility in Brazilian children and adolescents with osteogenesis imperfecta

Coelho

Luiz²,

Castro³

et al. 2021

Jornal de Pediatria

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“…While the effect of OI on physical function has been largely explored in children and adolescents, limited investigations have been conducted in adults [6][7][8]. Among this cohort, the impact of OI on physical function remains poorly described, with no investigations conducted on the UK adult population.…”

Section: Introductionmentioning

confidence: 99%

Physical function in UK adults with osteogenesis imperfecta: a cross-sectional analysis of the RUDY study

et al. 2020

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We describe physical function in adults with osteogenesis imperfecta (OI) and explored clinical and non-clinical factors related to its impairment. Our data showed that physical dysfunction is a common feature of adults with OI, varying by OI severity, and mediated by the presence and quality of pain and fatigue symptoms.Introduction There is a paucity of data describing physical function in adults with Osteogenesis imperfecta (OI). We investigated the effects of OI and its severity on physical function, and explored the relationship between physical function and number of fractures and symptomatology.Methods Adults with OI of different types were recruited from the RUDY study, an ongoing UKbased prospective cohort study. Participants completed demographic and clinical questions, and questionnaires. These assessed physical function (SF-36), mobility (EQ-5D-5L and NEADL), fatigue (FACIT-F) and pain (SF-MQ-2). Scores were compared using parametric or non-parametric statistical analyses, whereas correlations between outcomes were examined using univariate and multivariate regression analysis.Results Seventy-eight adults with OI aged 43.5±14.5 years were enrolled (type I, 32; type III, 11; type IV, 10; unknown type, 26). Physical function (PCS, SF-36) was significantly lower in all participants than normative values (p<0.001) and in type III than type I (p=0.008). Mobility was significantly different across the types (EQ-5D-EL, p=0.007; NEADL, p<0.001), with type III having more severe problems, followed by types IV, unknown and I. Physical function was associated with OI type (r=0.26; p=0.021), presence and quality of pain (r=-0.57; p<0.0001) and fatigue (r=-0.51; p<0.0001). Multivariate analysis revealed that physical function correlated independently with age, OI type, fatigue and non-neuropathic pain.

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“…Further reports have also been published indicating the importance of promoting physical activity in children and adolescents due to the increased prevalence of obesity in patients with OI [38,39]. The results of the study by Kruger et al [39] pointed to the mobility limitations of specific types of OI and the benefits of developing rehabilitation protocols for this population [40], which is essential to our study in terms of TMD prevention.…”

Section: Discussionmentioning

confidence: 76%

Temporomandibular Joint and Cervical Spine Mobility Assessment in the Prevention of Temporomandibular Disorders in Children with Osteogenesis Imperfecta: A Pilot Study

Kulesa-Mrowiecka

Pihut

Słojewska

et al. 2021

IJERPH

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Osteogenesis imperfecta is a heterogeneous group of hereditary disorders of connective tissue diseases characterized by increased bone fragility, low growth, sometimes accompanied by abnormalities within the dentine, blue sclera, and partial or total hearing impairment. The changes may affect all joints, including the cervical spine and temporomandibular joints in the future, resulting in pain. The aim of the present study was to assess whether there is a relationship between the active range of motion of the cervical spine and the mobility of temporomandibular joints due to differential diagnosis in children with osteogenesis imperfecta, and to present a prevention algorithm for temporomandibular disorders. The study involved a group of 34 children with osteogenesis imperfecta, and the control group included 23 children (age 9.1 ± 3.8 years). Data were collected through an interview based on the author’s questionnaire, and the physical examination consisted in measuring the mobility of the cervical spine using an inclinometer (Cervical Range of Motion Instrument), the Helkimo scale, and linear measurements. In children with congenital bone fragility, there were acoustic symptoms from the temporomandibular joints more often than in healthy children. A correlation was found between the mobility of the cervical spine and temporomandibular joints in the study group. In the case of detecting irregularities in the temporomandibular joints, children were ordered to perform jaw-tongue coordination exercises.

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Mobility in osteogenesis imperfecta: a multicenter North American study

Cited by 17 publications

References 48 publications

Postural balance, handgrip strength and mobility in Brazilian children and adolescents with osteogenesis imperfecta

Postural balance, handgrip strength and mobility in Brazilian children and adolescents with osteogenesis imperfecta

Physical function in UK adults with osteogenesis imperfecta: a cross-sectional analysis of the RUDY study

Temporomandibular Joint and Cervical Spine Mobility Assessment in the Prevention of Temporomandibular Disorders in Children with Osteogenesis Imperfecta: A Pilot Study

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