You are here

Article Text

Article menu
Download PDFPDF
British Association of General Paediatrics/British Society for Paediatric Endocrinology & Diabetes
A survey of current care for children and adults with osteogenesis imperfecta in Glasgow
  1. VK Narayanan1,
  2. E Dougan1,
  3. R Duncan2,
  4. E Kinning3,
  5. S Gallacher4,
  6. A Gallagher4,
  7. P Galloway5,
  8. J Hinnie6,
  9. A Mclellan7,
  10. M Panarelli5,
  11. SF Ahmed1
  1. 1Section of Child Health, Royal Hospital for Sick Children, Glasgow, UK
  2. 2Department of Orthopaedic Surgery, Royal Hospital for Sick Children, Glasgow, UK
  3. 3Department of Clinical Genetics, Royal Hospital for Sick Children, Glasgow, UK
  4. 4Department of Diabetes and Metabolism, Southern General Hospital, Glasgow, UK
  5. 5Department of Clinical Biochemistry, Glasgow Royal Infirmary, Glasgow, UK
  6. 6Department of Endocrinology and Diabetes, Victoria Infirmary, Glasgow, UK
  7. 7Department of Endocrinology, Western Infirmary, Glasgow, UK

Abstract

Introduction There are scarce reports of the clinical caseload and the provision of services for children and adults with osteogenesis imperfecta (OI).

Aims To perform a survey of the clinical characteristics of patients with a diagnosis of OI that attend metabolic bone and genetic clinics in the city of Glasgow

Methods Clinical details of 53 children (M:28) and 23 adults (M:9) were obtained by review of case records obtained from the Genetics and Occupational therapist lists.

Results The median age at presentation in children was 4.5 years (range 0.2-13.5), with 14/53 (26%) diagnosed within the first year. Of the 53 children, 33 (62%) had fracture onset within the first year, 17 between 1-5 years and 1 after 5 years. 34 (64%) had peak fracture frequency of 1-4 fractures per year with 4 (8%) having >5 fractures per year. Peak fracture occurrence was between 1-5 years (47%). Skeletal deformities were recorded in 23 children (43%) and 6 adults (26%). Pain was recorded as a problem in 31 (58%) children and 10 (43%) adults. Most patients were fully mobile; 6 children and 1 adult had very limited mobility. In children, input from occupational therapy, dentistry, orthopaedics, genetics, physiotherapy and pain team was recorded in 35 (66%), 34 (64%), 23 (43%), 14 (26%), 9 (17%) and 2 cases, respectively. DXA scan was performed in 48 (90%) children but the results were uninterpretable in 30%; 18 (78%) adults had DXA scans. Spinal XR were performed in 52/53 (98%) children with normal results in 13, compression fractures in 17 and spinal deformity 16. All 6 adults who had spinal XR had compression fractures. Serum Vitamin D was measured in 85% children and 74% adults with levels <50 nmol/l in 25 (47%) children, and 10 (43%) adults. 21 children and 12 adults were prescribed Vitamin D. Bisphosphonates were prescribed in 36 (68%) children and 11 (48%) adults. 8 (15%) children and 3 (13%) adults were recorded to have had orthopaedic interventions. Positive family history was recorded in 31 (58%) children and 17 (74%) adults. In 25/31 children and 11/17 adults with positive family history affected family members were offered appointments.

Conclusion OI is a rare, life-long, skeletal condition requiring multidisciplinary specialist input. There is a need to develop standards of care that can facilitate long-term care.

http://dx.doi.org/10.1136/archdischild-2012-301885.242

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.