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Osteogenesis imperfecta in childhood: impairment and disability. A prospective study with 4-year follow-up
Raoul H Engelbert1, Cuno S Uiterwaal, Willem-Jan Gerver
1Department of Pediatric Physical Therapy, University Medical Center, Wilhemina Children's Hospital, Utrecht, The Netherlands. R.Engelbert@wkz.azu.nl
Insights
This study followed children with osteogenesis imperfecta (OI) for 4 years, finding improved functional ability but no significant changes in joint range of motion or muscle strength over time.
Area of Science:
- Pediatric Orthopedics
- Genetics
- Rehabilitation Medicine
Background:
- Osteogenesis imperfecta (OI) is a genetic disorder characterized by brittle bones.
- Understanding the natural progression of OI in children is crucial for effective management and intervention studies.
- Longitudinal data on functional outcomes in pediatric OI populations are limited.
Purpose of the Study:
- To assess changes in anthropometrics, joint range of motion (ROM), muscle strength, functional ability, caregiver assistance, and ambulation levels in children with OI over a 4-year period.
- To identify predictors of ambulation levels at follow-up and changes in ambulation over time based on clinical characteristics.
Main Methods:
- A prospective study conducted over 4 years at a specialized children's hospital.
- 49 children (mean age 11.3 years) with OI participated.
- Outcome measures included anthropometry, joint ROM, muscle strength, fracture frequency, intramedullary rodding, ambulation level, functional ability, and caregiver assistance.
Main Results:
- In type I OI, total joint ROM and generalized joint hypermobility decreased significantly over time.
- No significant changes in total muscle strength were observed across different OI types.
- Functional ability, including self-care and social function, improved significantly in types I, III, and IV, with reduced parental assistance in type III.
Conclusions:
- This is the first long-term study detailing the natural course of developmental outcomes in pediatric OI.
- While functional ability improved, it did not reach normative values in severe OI types, suggesting a potential plateau.
- Understanding the natural disease progression is vital for interpreting the efficacy of future intervention studies in OI.
Objectives:
To study (1). changes in anthropometrics, joint range of motion (ROM), muscle strength, functional ability, caregiver assistance, and level of ambulation in children with osteogenesis imperfecta (OI) and (2). the prediction of clinical characteristics at the level of ambulation at follow-up and the prediction of clinical characteristics on progression or regression at the level of ambulation over time.
Design:
Prospective study with follow-up of 4 years.
Setting:
A children's hospital that serves a nationwide center for treatment and research in children with OI in the Netherlands.
Participants:
At follow-up, 49 children (24 boys, 25 girls; mean age +/- standard deviation, 11.3+/-3.8y; range, 5.2-19.4y) participated.
Interventions:
Not applicable.
Main Outcome Measures:
Anthropometry, joint ROM, muscle strength, fracture frequency, intramedullary rodding, level of ambulation, functional ability, and caregiver assistance.
Results:
In type I OI, total joint ROM decreased significantly over time, especially in the lower extremities, with a significant decrease in generalized joint hypermobility according to Bulbena (median start, 7.5; interquartile range [IQR], 4-9; median end, 6; IQR, 2-7; P<.001). In types III and IV, a severe decrease in total joint ROM was present without significant changes over time. No significant changes in total muscle strength (upper or lower extremities) in the different types of OI were measured at follow-up. In OI type I, a significant increase in self-care (P=.003) and social function (P=.008) was measured; in type III, a significant increase in self-care (P=.003), mobility (P=.004), and social function (P=.005) was measured, with a significant decrease in parental assistance in self-care (P=.02) and mobility (P=.005). In type IV, a significant increase was observed in the self-care (P=.01) and social function domains (P=.02). Type of OI (regression coefficient=-1.0; 95% confidence interval [CI], -1.64 to -0.47) and total muscle strength were the only significant predictors for level of ambulation (regression coefficient=.01; 95% CI,.17-.32). Body weight was significantly lower in the group that progressed in level of ambulation (P=.03), whereas children with a decline in level of ambulation had significantly higher body weight (P=.05).
Conclusions:
Ours is the first study with a long-term follow-up that provides information concerning the natural course of developmental outcome parameters of OI in childhood. Joint ROM and muscle strength did not change significantly over time, possibly because of the biomechanical skeletal properties of the different OI types. Functional ability improved significantly over time, but, especially in types III and IV, did not reach normative values, possibly because of a plateau phase in functional ability. Knowledge of the natural course of the disease is essential to interpret the results from intervention studies.
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