Leet Arabella I, Wientroub Shlomo, Kushner Harvey, Brillante Beth, Kelly Marilyn H, Robey Pamela Gehron, Collins Michael T
National Institutes of Health, Bethesda, MD, USA.
J Bone Joint Surg Am. 2006 Apr;88(4):818-23. doi: 10.2106/JBJS.E.00259.
Polyostotic fibrous dysplasia has a wide clinical spectrum, with substantial variation between patients in terms of orthopaedic manifestations, including the number of fractures, the degree of deformity of the limbs, and the presence of scoliosis. Data from bone scans, skeletal surveys, and records were correlated with the Pediatric Outcomes Data Collection Instrument scales to examine whether any specific facet of orthopaedic involvement could be related to functional abilities.
All patients who were sixteen years of age or younger and who were part of an ongoing natural history study of polyostotic fibrous dysplasia (including McCune-Albright syndrome) were sent an age-appropriate Pediatric Outcomes Data Collection Instrument outcomes tool. The medical records and radiographs of the patients who returned forms were reviewed. Radiographic measurements of scoliosis, the femoral neck-shaft angle, and limb deformities were then performed. The extent of skeletal involvement with polyostotic fibrous dysplasia (disease burden) was assessed on bone scans with use of a validated tool. A chart review was performed to determine the fracture rate, the use of bisphosphonates, and the endocrine status. These measurements were correlated with the Pediatric Outcomes Data Collection Instrument scores.
The outcomes tool was sent to twenty-seven patients and the completed instrument was returned by twenty patients, for a response rate of 74%. The parent-child form was filled out for twelve patients and the parent-adolescent form was filled out for eight patients. The mean standardized Pediatric Outcomes Data Collection Instrument scores for all twenty patients were lowest for sports (62; range, 14 to 100) and happiness (72; range, 25 to 100). Adolescents and parents disagreed with regard to sports (with adolescent scores being higher than parental scores) and pain (with parental scores being higher than adolescent scores). However, the overall global scores correlated well between the parents and the adolescents (r = 0.78, p = 0.03). The femoral neck-shaft angle correlated strongly with the Pediatric Outcomes Data Collection Instrument score for sports (r = 0.46, p = 0.03) but not for transfers. The bone scan scores for the lower extremity disease burden correlated with both the transfer scale (r = 0.76, p = 0.03) and the sports scale (r = 0.77, p = 0.02). Deformity of the limbs, the presence of scoliosis, the prevalence of endocrine dysfunction, and the number of fractures did not correlate with the Pediatric Outcomes Data Collection Instrument scores.
In patients with polyostotic fibrous dysplasia, the loss of the normal femoral neck-shaft angle and the disease burden in the lower extremities appear to have the greatest effect on functional activity as measured with the Pediatric Outcomes Data Collection Instrument tool.
多骨型纤维性发育不良具有广泛的临床谱，患者在骨科表现方面存在很大差异，包括骨折数量、肢体畸形程度和脊柱侧弯情况。将骨扫描、骨骼检查和记录的数据与儿科结局数据收集工具量表进行关联，以检查骨科受累的任何特定方面是否与功能能力相关。
向所有年龄在16岁及以下且参与多骨型纤维性发育不良（包括McCune - Albright综合征）正在进行的自然史研究的患者发送适合其年龄的儿科结局数据收集工具结局量表。对返回表格的患者的病历和X光片进行审查。然后对脊柱侧弯、股骨颈干角和肢体畸形进行X光测量。使用经过验证的工具通过骨扫描评估多骨型纤维性发育不良的骨骼受累程度（疾病负担）。进行图表审查以确定骨折率、双膦酸盐的使用情况和内分泌状况。这些测量结果与儿科结局数据收集工具评分相关。
结局量表发送给了27名患者，20名患者返回了完整的量表，回复率为74%。12名患者填写了亲子表格，8名患者填写了父母 - 青少年表格。所有20名患者的儿科结局数据收集工具标准化平均评分在运动方面（62；范围为14至100）和幸福感方面（72；范围为25至100）最低。青少年和父母在运动方面（青少年评分高于父母评分）和疼痛方面（父母评分高于青少年评分）存在分歧。然而，父母和青少年的总体全球评分之间相关性良好（r = 0.78，p = 0.03）。股骨颈干角与儿科结局数据收集工具的运动评分密切相关（r = 0.46，p = 0.03），但与转移评分无关。下肢疾病负担的骨扫描评分与转移量表（r = 0.76，p = 0.03）和运动量表（r = 0.77，p = 0.02）均相关。肢体畸形、脊柱侧弯的存在、内分泌功能障碍的患病率和骨折数量与儿科结局数据收集工具评分无关。
在多骨型纤维性发育不良患者中，正常股骨颈干角的丧失和下肢的疾病负担似乎对使用儿科结局数据收集工具测量的功能活动影响最大。
