Bone Abstracts

The ‘classical’ forms of osteogenesis imperfecta (OI) are those associated with the original Sillence classification of four types described in 1979. They account for 85–90% of all types of OI with the majority due to mutations in the genes for type 1 collagen, COL1A1 and COL1A2, and are usually dominantly inherited. They represent a significant spectrum of severity ranging from individuals with infrequent fractures, normal mobility and function to those with recurrent fractures, bone deformity and short stature with limited ambulation and function. Although more severely affected children will require significant input from a variety of professionals within a multidisciplinary team it is important to recognise that children with ‘mild OI’ may also have significant problems, e.g. the development of vertebral fractures.

An important time for all families with an affected child is the initial diagnosis and provision of appropriate information and support. This can have a significant impact on the subsequent attitude and behaviour of the family towards their child, which may compromise their future potential. This can lead to challenges in the management of such children by the OI team. Appropriate liaison and provision of information to schools is equally important. Another important time is transition to adult care, which is often significantly different in pattern to paediatric care. This requires a dedicated transition process, which should commence at entrance to secondary school.

Although significant advances have been made in the care of children and adolescents with ‘classical OI’ in the past 20 years with the availability of bisphosphonate treatment it is clear that there remain many problems. These include continued long bone fractures, development of scoliosis, and limitations in mobility and function. Such problems require the input of a broad multidisciplinary team that includes physicians, orthopaedic surgeons, specialist nurses, physiotherapists, occupational therapists, psychologists, and social workers.

Disclosure: Receipt of honoraria or consultation fees: Consilient, Alexion.