Physical performance of children with longitudinal fibular deficiency (fibular hemimelia)

Abstract

Purpose

Longitudinal fibular deficiency (LFD) is the most common congenital long bone deficiency. This study aimed to objectively assess the physical performance of children and adolescents with LFD compared with unaffected peers, and to examine trends over age for subgroups of the LFD population.

Methods

Differences between children with LFD and unaffected peers were examined with hand-held dynamometry for lower-limb muscle strength, Six-Minute Walk Test, Timed up and down stairs test, Star Excursion Balance Test, and Standing long jump.

Results

Thirty-nine children with LFD and 284 unaffected peers participated. Children with LFD performed at a lower level than their unaffected peers, on all measures of physical performance (mean 2.1 z-scores lower, all p < 0.01), except in long jump (p = 0.27). When comparing the performance of children with LFD to their unaffected peers across four age groups, there was a significant between-groups difference on all strength measures, and on the Six-Minute Walk distance, between children with and without LFD. These differences were smallest in young children (3–6 years) and largest in the older children (15–18 years) (all p < 0.01). Children with no lengthening surgery performed better on the Six-Minute Walk Test, covering a greater distance during the test, than those who had surgery (mean difference 83 metres, p < 0.01). There were no significant differences between children who had or had not undergone an amputation.

Conclusions

Children with LFD performed at a significantly lower level than unaffected peers on all measures of physical performance other than jumping. The largest differences were in older children. This paper provides baseline functional data for future interventions in LFD.

Level of Evidence

Cross-sectional study.

Implications for Rehabilitation

• This paper provides the first baseline functional data using validated objective measures on a consecutive cohort of children and adolescents with longitudinal fibular deficiency.

• Children with LFD performed significantly worse than their unaffected peers on all measures of physical performance other than jumping, with children falling further behind their peers as they age.

• Children who undergo an amputation typically have the most severe anatomical presentation and yet perform at an equivalent functional level.

• This paper identifies multiple modifiable impairments that represent potential opportunities for rehabilitation professionals to target with conservative treatment options to improve functional performance.

Keywords:

• Paediatrics
• children
• rehabilitation
• orthopaedics
• congenital limb deficiency
• longitudinal fibular deficiency
• fibular hemimelia
• outcome measures

Acknowledgements

Children with Longitudinal Fibular Deficiency in NSW and their families for generously donating their time to participate in this study. Dr Paul Gibbons, Professor David Little, and Dr Michael Bellemore for advice and assistance in recruitment.

Ethical approval

Ethical approval for this study was obtained from the Sydney Children’s Hospital Network Human Research Ethics Committee (LNR/17/SCHN/121), and Macquarie University (5201827003073). Ethical approval for the 1000 Norms Project was granted by the University of Sydney ethics committee (HREC 2013/640).

Disclosure statement

All authors declare they have no conflict of interest.

Additional information

Funding

EJM was funded part-time as a research physiotherapist for the Limb Clinic, Kids Rehab at The Children’s Hospital at Westmead from funds donated by the Limbless Soldiers Association. The 1000 Norms Project was supported by the National Health and Medical Research Council of Australia (NHMRC, #1031893), and Australian Podiatry Education & Research Fund, Australasian Podiatry Council.