Rehabilitation And Functional Outcome In Osteogenesis Imperfecta

Jennifer Ault (Specialist in Pediatric Rehabilitation)
New Children's & Westmead Hospitals, N.S.W., Australia, 2145

Targeted intervention with bisphosphonate therapy has radically improved the potential for rehabilitation in managing children with Osteogenesis Imperfecta. In our program there are 39 children receiving cyclic intravenous Pamidronate and 1 child on oral Alendronate and we consult on a large number of children throughout Australia and New Zealand. Three of the goals of pediatric rehabilitation in OI have been addressed through the current use of bisphosphonates viz:

1. Decrease in immobilisation osteoporosis;
2. Promotion of weight bearing exercise in order to increase exercise-mediated bone strength;
3. Reduction of bone pain.

Children receiving these agents have increased stamina and decreased bone pain and fatigue and they report increases in muscle strength.

However, there are many other issues which fall under the broad umbrella of rehabilitation. We manage children through our centre with most types of OI, including OI type IIB and Bruck and Cole-Carpenter types. It is clear that:

1. Children with OI successfully treated with Pamidronate continue to have bone fragility and hence some fractures;
2. Many still have short stature which is often disproportionate;
3. Children with hypermobility and OI will continue to have hypermobility;
4. Children with severe long bone deformity will still need surgery and post-operative rehabilitation if they are to mobilise;
5. Spinal surgery for some children with kyphoscoliosis may now be practical.

At the New Children's Hospital, all children with OI are managed through a multidisciplinary Connective Tissue Dysplasia Service. Weekly multidisciplinary clinics are held, involving a rehabilitation specialist, clinical geneticist, physiotherapist and an occupational therapist. Support is available if needed from pediatric endocrinologists, orthopedic surgeons and orthotists. We have used FIM/Wee FIM and/or PEDI to monitor functional outcomes in younger children. Both tools provide good descriptors of the burden of care for younger children and those with high dependency needs but do not chart the developmental progress of osteopenic children with better mobility.

Rehabilitation for the children and teenagers treated with bisphosphonates will be discussed.

Specific rehabilitation challenges include:

1. The development of strategies for fracture prevention and skeletal protection for the vastly more mobile and energetic group of patients treated with bisphosphonates;
2. The encouragement and evaluation of exercise programs for individual children, hopefully establishing exercise habits for life;
3. The management of hypermobility particularly in the hands;
4. The development of individualised orthoses for children with 'deformed' feet.

We need to remain aware of some special problems in OI. Basilar impression affects 25 % of all patients with OI and up to 70% with OI type IV with dentinogenesis imperfecta. Because we cannot always predict which infants will get basilar impression we manage most infants with OI with reclined seating until they are ready to sit unsupported. Children with OI type I need to learn hearing protection strategies and all children need to maximise their education and their social potential. We wish to ensure that children with OI enter adult life with optimal mobility and with the skills to participate fully in community life.

Reference: Proceedings of the 7th International Conference on Osteogenesis Imperfecta. Montreal, Canada, 1999.