SFEBES2012 Poster Presentations Bone (22 abstracts)
A survey of current care for children & adults with osteogenesis imperfecta in glasgow
Vidya Narayanan 1 , Elizabeth Dougan 1 , Rod Duncan 2 , Esther Kinning 3 , Stephen Gallacher 4 , Andrew Gallagher 4 , Peter Galloway 5 , John Hinnie 6 , Alastair McLellan 7 , Maurizio Panarelli 5 & Syed Ahmed 1
1Section of Child Health, Royal Hospital for Sick Children, Glasgow, United Kingdom; 2Department of Orthopaedic Surgery, Royal Hospital for Sick Children, Glasgow, United Kingdom; 3Department of Clinical Genetics, Royal Hospital for Sick Children, Glasgow, United Kingdom; 4Department of Diabetes and Metabolism, Southern General Hospital, Glasgow, United Kingdom; 5Department of Clinical Biochemistry, Glasgow Royal Infirmary, Glasgow, United Kingdom; 6Department of Endocrinology and Diabetes, Victoria Infirmary, Glasgow, United Kingdom; 7Department of Endocrinology, Western Infirmary, Glasgow, United Kingdom.
Introduction: As there are scarce data on the clinical case load and multidisciplinary input provided for patients with osteogenesis imperfecta (OI), we performed a survey of patients with OI attending bone and genetic clinics in Glasgow.
Methods: Clinical details of 53 children(M:28) and 23 adults(M:9) were obtained by a review of case records.
Results: The median age at presentation in children was 4.5 yrs (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 yr, 17 between 1–5 yrs and 1 after 5 yrs. 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 yrs (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.
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.
Declaration of interest: There is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.
Funding: No specific grant from any funding agency in the public, commercial or not-for-profit sector.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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