Bone Abstracts

Osteogenesis imperfecta (OI) is most commonly caused by a defect in the gene that produces type I collagen. Features include fractures and ligamentous laxity. Reduced muscle tone is often seen, which can result in gross motor delay in younger children.

Dynamic elastomeric fabric orthoses (DEFOs or lycra garments) are widely used in children with low truncal muscle tone, have been shown to improve posture, and increase stability. There is no research in the use of DEFOs in children with OI and there has been minimal clinical use in the UK.

We assessed the use of a DEFO for tolerability and functional outcome in a child with OI and low truncal tone.

An 11-month-old girl with OI was referred to the physiotherapy department for gross motor delay and poor posture. She was being treated for vertebral compression fractures but concerns were raised that her sitting posture might exacerbate her spinal deformities. On assessment she was excessively kyphotic with decreased truncal tone. She was able to sit independently with frequent stabilisation using her arms.

A bespoke DEFO was manufactured to a specification which allowed safe application, minimising handling and risk of fracture. The DEFO was worn for 9 hours a day for 6 months. Video assessments with and without the DEFO were obtained and sitting stability was quantified as the length of time both hands were used for play rather than for balance.

After 1 month of use, the DEFO increased hands-free sitting time from a maximum of 2–7 seconds. This enabled the child more engagement with her fine motor activities. Parents reported that during the 6 months, the DEFO was well tolerated and her confidence and activity was increased whilst wearing it.

This case demonstrates that bespoke DEFOs can be tolerated and may be useful in the management of children with reduced tone and delayed motor skills in OI.

More work is needed to evaluate poor truncal tone in children with OI and enable promising therapeutic interventions to be objectively assessed.

Disclosure: The authors declared no competing interests.