Osteogenesis imperfecta in childhood: Impairment and disability. a prospective study with 4-year follow-up1

Presented in part at the International Conference on Osteogenesis Imperfecta, September 1–4, 2002, Annecy, France.
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Abstract

Engelbert RH, Uiterwall CS, Gerver W-J, van der Net J-J, Pruijs HE, Helders PJ. Osteogenesis imperfecta in childhood: impairment and disability. A prospective study with 4-year follow-up. Arch Phys Med Rehabil 2004;85:772-8.

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.

Section snippets

Methods

Our study was conducted between 1996 and 2000, and follow-up was conducted for almost 4 years (mean ± standard deviation [SD], 3.7±0.7y). Our hospital is a national center for diagnosis and treatment for children with OI. Children were eligible if the diagnosis was definitive and if the type of OI was classified according to Sillence et al.3, 4 All children were screened for any other disability or impairment that may have contributed to changes in function. If present, they were excluded.

Anthropometrics

In type I OI, z scores of head circumference (P=.02) and sitting height (P=.001) increased significantly. In the other types, no significant changes were measured (table 1). No significant differences were found for age, but body height, weight, and sitting height were significantly lower in type III than in type I (P<.001), whereas types I and IV differed significantly in body height and sitting height (P<.001). Body height and sitting height were significantly decreased in OI type III

Discussion

From our prospective study with a follow-up of almost 4 years, we conclude that impairment parameters (joint ROM, muscle strength) hardly changed over time, whereas functional ability improved, especially in the less severe types of OI (type I) and, to a lesser extent, in types III and IV. Changes in functional ability in these types seemed to be restricted, possibly because of a ceiling effect of the disease per se. We also found that the type of OI and total muscle strength were strongly

Conclusions

Rehabilitation reports in OI consist primarily of limited clinical experience, anecdotal reports, and small retrospective surveys in which efficacy of functional outcome has not been definitively established.30 The focus is on improving ROM and muscle strength of trunk and extremity muscles. Improvement of functional abilities is mainly focused on sitting, standing, and ambulation. Because the impairment parameters that we studied are probably a part of the specific disease-related clinical

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    Copyright © 2004 American Congress of Rehabilitation Medicine and the American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved.