Muscle Strength, Joint Range of Motion, and Gait in Children and Adolescents With Osteogenesis Imperfecta

Brizola, Evelise; Staub, Ana Lúcia Portella; Félix, Têmis Maria

doi:10.1097/pep.0000000000000042

Cited by 33 publications

(33 citation statements)

References 48 publications

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“…A recent cross-sectional study of 62 children and adolescents with varying types of OI demonstrated that moderate and severe forms of OI are associated with greater functional impairment, influenced by fracture history, which has a negative impact on ambulation and the ability to improve with physical therapy (30). It would be reasonable to think that the more severe the functional impairment, as in OI type III, the more dramatic the weight gain secondary to the decreased functional capabilities.…”

Section: Discussionmentioning

confidence: 99%

Cross-sectional and longitudinal growth patterns in osteogenesis imperfecta: implications for clinical care

et al. 2015

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Background: There is strikingly limited information on linear growth and weight in the different types of osteogenesis imperfecta (OI). Here, we define growth patterns further with the intent of implementing appropriate adaptations proactively. Methods: We report cross-sectional anthropometric data for 343 subjects with different OI types (144 children, 199 adults). Longitudinal height data for 36 children (18 girls, 18 boys) with OI type I and 10 children (8 girls, 2 boys) with OI type III were obtained. results: In all cases, the height Z-scores were negatively impacted, and final height Z-scores were impacted the most. In type I, the growth velocities taper near puberty, and there is a blunted pubertal growth spurt. The growth velocities of children with type III decelerate before age 5 y; poor growth continues without an obvious pubertal growth spurt. Obesity is a concern for all patients with OI, with type III patients being the most affected. conclusion: The linear growth patterns, in addition to the marked increase in weight over time, indicate a need for lifestyle modifications early in childhood, especially a need for weight control. Further definition of the anthropometric measures in OI enables patients to begin modifications as early as possible.o steogenesis imperfecta (OI) comprises a group of heri-

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Section: Discussionmentioning

confidence: 99%

Cross-sectional and longitudinal growth patterns in osteogenesis imperfecta: implications for clinical care

et al. 2015

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“…Features such as long bone bowing, joint laxity, and decreased range of motion and muscle strength can lead to delayed motor milestones, reduced mobility and limitations in activities of daily living [138][139][140] . Musculoskeletal impairments are greater in individ uals with more severe phenotypes 141 (TABLE 1). Individuals with osteogenesis imperfecta type I are community ambulators, who might exhibit limitations in sports and physical function 142,143 .…”

Section: Musculoskeletal Interventionsmentioning

confidence: 99%

Osteogenesis imperfecta

Marini

Forlino

Bächinger

et al. 2017

Nat Rev Dis Primers

577

582

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| Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure. In the past decade, (mostly) recessive, dominant and X-linked defects in a wide variety of genes encoding proteins involved in type I collagen synthesis, processing, secretion and post-translational modification, as well as in proteins that regulate the differentiation and activity of bone-forming cells have been shown to cause osteogenesis imperfecta. The large number of causative genes has complicated the classic classification of the disease, and although a new genetic classification system is widely used, it is still debated. Phenotypic manifestations in many organs, in addition to bone, are reported, such as abnormalities in the cardiovascular and pulmonary systems, skin fragility, muscle weakness, hearing loss and dentinogenesis imperfecta. Management involves surgical and medical treatment of skeletal abnormalities, and treatment of other complications. More innovative approaches based on gene and cell therapy, and signalling pathway alterations, are under investigation. NATURE REVIEWS | DISEASE PRIMERS VOLUME 3 | ARTICLE NUMBER 17052 | 1 PRIMER © 2 0 1 7 M a c m i l l a n P u b l i s h e r s L i m i t e d , p a r t o f S p r i n g e r N a t u r e . A l l r i g h t s r e s e r v e d .In this Primer, we provide an overview of epidemio logy, genetics and pathophysiology of osteogenesis imperfecta, as well as diagnosis and management. EpidemiologyStudies from Europe and the United States have found a birth prevalence of osteogenesis imperfecta of 0.3-0.7 per 10,000 births 5,6 . These birth cohort analyses reflect more severe types of osteogenesis imperfecta and do not include more subtle types that become apparent after birth. A population based study that used the Danish National Patient Register found an annual incidence of osteogenesis imperfecta of 1.5 per 10,000 births between 1997 and 2013 (REF. 7). Population surveys in countries with comprehensive medical databases, such as Finland, estimated a prevalence of about 0.5 per 10,000 individ uals 8 , with most having phenotypically milder osteo genesis imperfecta type I and type IV (BOX 1; TABLE 1). Because these birth cohort and population surveys are based on clinical findings and tend to find mutu ally exclusive populations, a reasonable estimate of the incidence of osteogenesis imperfecta is about 1 per 10,000 individuals. Most patients are heterozygous for mutations in COL1A1 or COL1A2. No difference in the prevalence between sexes was reported.Approximately 90% of the 3,000 individuals whose mutations ha...

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“…Other studies produced similar results, showing reduced mobility as a result of the presence of deformities and an increased number of fractures. This led to higher BMIs in individuals with type III OI compared with other OI types [11, 28, 29]. …”

Section: Discussionmentioning

confidence: 99%

Difference between Methods for Estimation of Basal Metabolic Rate and Body Composition in Pediatric Patients with Osteogenesis Imperfecta

2017

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Background/Aims: Osteogenesis Imperfecta (OI) is a bone disease characterized by bone fragility, deformities, and multiple fractures. The aim of this study was to compare the different methods of measuring the basal metabolic rate (BMR) and body composition (BC) in pediatric patients with OI. Methods: This cross-sectional study included 52 individuals with a median age of 9 (5.25–12.7) years. BMR was calculated by bioelectrical impedance analyses (BIA), predictive values according to age from the World Health Organization (WHO), a kcal/cm formula, and indirect calorimetry (IC). BC was assessed using the anthropometric calculation of percentage body fat (%BF) and lean mass (kg), BIA, and dual-energy X-ray absorptiometry (DEXA). Agreement among the methods was assessed using the Bland-Altman technique. Results: IC estimates of BMR were greater than BIA and lower than values obtained using the WHO and kcal/cm methods. Better agreement was observed using the WHO values for mild forms of OI and the kcal/cm formula for moderate-to-severe forms. For BC, DEXA estimates of %BF were higher and the lean mass was lower than the values obtained using BIA and anthropometry. Neither method agreed with the DEXA method results. Conclusions: Significant differences exist among the various methods used for measuring BMR and BC with regard to phenotypic differences between OI types.

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Muscle Strength, Joint Range of Motion, and Gait in Children and Adolescents With Osteogenesis Imperfecta

Abstract: Features vary according to OI type. Moderate and severe forms of OI are associated with greater functional limitation, influenced by fracture history, which negatively affects the acquisition and level of ambulation.

Cited by 33 publications

References 48 publications

Cross-sectional and longitudinal growth patterns in osteogenesis imperfecta: implications for clinical care

Cross-sectional and longitudinal growth patterns in osteogenesis imperfecta: implications for clinical care

Osteogenesis imperfecta

Difference between Methods for Estimation of Basal Metabolic Rate and Body Composition in Pediatric Patients with Osteogenesis Imperfecta

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