Bone Abstracts

Objectives: Research studies confirm that children with osteogenesis imperfecta (OI) benefit from co-ordinated multidisciplinary services to optimise outcomes and reduce morbidity and mortality. Implementation of a tertiary paediatric centre of excellence within the Republic of Ireland is contentious due to the absence of data on the prevalence, service needs and medical requirements of these patients.

Methods: A retrospective chart review of all patients with OI attending a general endocrine clinic staffed by a consultant with an interest in metabolic bone disease at Children’s University Hospital, Temple Street, Dublin from September 2012 to 2016 was performed. Data extracted included demographics, genotype, phenotype, bisphosphonate use and need for additional specialist services.

Results: Thirty-four children (male=18) with OI have attended this service. The median age of this cohort is 4.5 years (Range 0.67–17.3 years). Severity of OI was classified as mild (n=16), moderate (n=9) or severe (n=9). Thirteen patients are receiving bisphosphonate therapy with the majority (n=11) requiring intravenous infusions through day ward or inpatient care on a three to 6 monthly basis. One third of the clinic cohort have a genetic diagnosis (Col1A1, Col1A2, LEPRE) with the remainder receiving a diagnosis based on clinical and radiological findings. Three of our patients were born to mothers with severe OI. Five patients are accessing additional care at a centre of excellence abroad. At present, 22 children require orthopaedic input, 26 children attend ophthalmology services, 27 attend audiology and 20 have required the input of the paediatric dentist. From an allied health perspective, local children (n=14) are followed in our hospital with the remainder referred to local intervention teams.

Conclusion: For a relatively small country (population 4.75 million) this indicates a larger than cohort within a short time period. We predict the total number of cases of OI in children <18 years in Ireland to be more than three times this number. This is a young complex cohort with multiple needs and underlines the growing requirement for a centrally funded, dedicated multidisciplinary service to deliver the level of care required. Further work is required to establish the true incidence and natural history of OI in this country.

Disclosure: The authors declared no competing interests.