蕾雷寶貝骨科合併症的處理

1. 蕾雷寶貝骨科合併症
的處理
高雄長庚醫院 兒童骨科
蕭家傑
2014.10.25

2. • 蕾雷寶貝常見骨科合併症
• 骨科合併症的處理
• 預防
• 手術治療
• 藥物治療

3. • 蕾雷寶貝常見骨科合併症
• 骨科合併症的處理

4. 常見骨科合併症
• 脊柱側彎
• 骨質疏鬆
• 骨折
• 步態異常

5. 脊柱側彎
• 常見的合併症
• 16歲時的發生
率為 50－
85％
Colvin L, Fyfe S, Leonard S, et al. Describing the phenotype in Rett syndrome using a population database. Arch Dis Child 2003; 88:38.
Ager S, Fyfe S, Christodoulou J, et al. Predictors of scoliosis in Rett syndrome. J Child Neurol 2006; 21:809.
Percy AK, Lee HS, Neul JL, et al. Profiling scoliosis in Rett syndrome. Pediatr Res 2010; 67:435.
Stokland, E, Lidström, J, Hagberg, B. Scoliosis in Rett syndrome. In: Clinical and Biological Aspects, Hagberg, B (Ed), MacKeith Press, London 1993. p.61.

6. 脊柱側彎
• 併發因素包括
• 行走功能的延緩、衰失及衰退
• 較嚴重的臨床表現
• 便泌等
• 帶有 R294X and R306C 基因突變可降低
側彎的發生率
Ager S, Fyfe S, Christodoulou J, et al. Predictors of scoliosis in Rett syndrome. J Child Neurol 2006; 21:809.
Percy AK, Lee HS, Neul JL, et al. Profiling scoliosis in Rett syndrome. Pediatr Res 2010; 67:435.
Stokland, E, Lidström, J, Hagberg, B. Scoliosis in Rett syndrome. In: Clinical and Biological Aspects, Hagberg, B (Ed), MacKeith Press, London 1993. p.61.

7. 骨質疏鬆
• 兒童到成年都會
影響
• 無論有行動能力
與否
• 全身性
Haas RH, Dixon SD, Sartoris DJ, Hennessy MJ. Osteopenia in Rett syndrome. J Pediatr 1997; 131:771.
Ellis KJ, Shypailo RJ, Hardin DS, et al. Z score prediction model for assessment of bone mineral content in pediatric diseases. J Bone Miner Res 2001; 16:1658.
Motil KJ, Ellis KJ, Barrish JO, et al. Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndrome. Pediatr Res 2008; 64:435.

8. 骨質疏鬆
• 與其他疾病相比，包括囊狀纖維化
（cystic fibrosis）、幼年型皮肌炎
（juvenile dermatomyositis ）、肝病、人
類免疫缺陷病毒（HIV），蕾雷寶貝之
骨鬆最為嚴重
Ellis KJ, Shypailo RJ, Hardin DS, et al. Z score prediction model for assessment of bone mineral content in pediatric diseases. J Bone Miner Res 2001; 16:1658.

9. 骨折
• 骨拆之機率為一般小孩的四倍
• 骨頭厚度減低
• 更嚴重的基因突變
• 抗癲癇藥物使用
Leonard H, Thomson MR, Glasson EJ, et al. A population-based approach to the investigation of osteopenia in Rett syndrome. Dev Med Child Neurol 1999; 41:323.
Downs J, Bebbington A, Woodhead H, et al. Early determinants of fractures in Rett syndrome. Pediatrics 2008; 121:540.

10. 骨折的次數
Downs J, Bebbington A, Woodhead H. et al. Early determinants of fractures in Rett syndrome.Pediatrics. 2008 Mar;121(3):540-6. doi: 10.1542/peds.2007-1641.

11. 骨折的部位

12. 首次骨折的年齡
Downs J, Bebbington A, Woodhead H. et al. Early determinants of fractures in Rett syndrome.Pediatrics. 2008 Mar;121(3):540-6. doi: 10.1542/peds.2007-1641.

13. 首次骨折的年齡
Downs J, Bebbington A, Woodhead H. et al. Early determinants of fractures in Rett syndrome.Pediatrics. 2008 Mar;121(3):540-6. doi: 10.1542/peds.2007-1641.

14. 低能量骨折的部位
部位病患(61) 對照(122) p value
肱骨4 0 0.012
橈、尺骨3 5 NS
股骨5 0 0.004
脛、腓、臏骨3 3 NS
Roende G, Ravn K, Fuglsang K. et al. Patients with Rett syndrome sustain low-energy fractures. Pediatr Res. 2011 Apr;69(4):359-64. doi: 10.1203/PDR.0b013e31820bc6d3.

15. 高能量骨折的部位
部位病患(61) 對照(122) p value
肱骨1 5 NS
橈、尺骨1 13 0.037
股骨0 3 NS
脛、腓、臏骨0 1 NS
Roende G, Ravn K, Fuglsang K. et al. Patients with Rett syndrome sustain low-energy fractures. Pediatr Res. 2011 Apr;69(4):359-64. doi: 10.1203/PDR.0b013e31820bc6d3.

16. 骨折的因素
行走功能有骨折
(12) 無骨折(49) p value
獨立2 (16.7%) 26 (53.1%) 0.023
需支撐5 (41.7%) 16 (32.7%)
不能行走5 (41.7%) 7 (14.3%) 0.047
Roende G, Ravn K, Fuglsang K. et al. Patients with Rett syndrome sustain low-energy fractures. Pediatr Res. 2011 Apr;69(4):359-64. doi: 10.1203/PDR.0b013e31820bc6d3.

17. 骨折的因素
站立功能有骨折
(12) 無骨折(49) p value
獨立2 (16.7%) 28 (57.1%) 0.012
需支撐7 (58.3%) 20 (40.8%)
不能站立3 (25%) 1 (2%) 0.022
Roende G, Ravn K, Fuglsang K. et al. Patients with Rett syndrome sustain low-energy fractures. Pediatr Res. 2011 Apr;69(4):359-64. doi: 10.1203/PDR.0b013e31820bc6d3.

18. 骨折的因素
坐功能有骨折
(12) 無骨折(49) p value
獨立／稍支撐5 (41.7%) 41 (83.7%) 0.006
必須支撐／不
能坐7 (58.3%) 8 (16.3%) 0.006
Roende G, Ravn K, Fuglsang K. et al. Patients with Rett syndrome sustain low-energy fractures. Pediatr Res. 2011 Apr;69(4):359-64. doi: 10.1203/PDR.0b013e31820bc6d3.

19. 骨折的因素
跌倒次數有骨折
(12) 無骨折(49) p value
每月＜1次11 (91.7%) 41 (83.7%) NS
每月＞＝1次1 (8.3%) 8 (16.3%) NS
Roende G, Ravn K, Fuglsang K. et al. Patients with Rett syndrome sustain low-energy fractures. Pediatr Res. 2011 Apr;69(4):359-64. doi: 10.1203/PDR.0b013e31820bc6d3.

20. 骨折的因素
癲癇有骨折
(12) 無骨折(49) p value
O 9 (75%) 38 (77.6%) NS
X 3 (25.3%) 11 (22.4%) NS
Roende G, Ravn K, Fuglsang K. et al. Patients with Rett syndrome sustain low-energy fractures. Pediatr Res. 2011 Apr;69(4):359-64. doi: 10.1203/PDR.0b013e31820bc6d3.

21. 步態異常

23. • 蕾雷寶貝常見骨科合併症
• 骨科合併症的處理

24. 營養
• 高卡路里飲食
• 足夠的維他命及鈣質的補充

25. 側彎檢查
• 及早發現、及早治療
• 每六個月的脊椎理學檢查
Downs J, Bergman A, Carter P, et al. Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence. Spine (Phila Pa
1976) 2009; 34:E607.

26. 側彎－物理治療
• 適當的物理治療
• 可以促進活動能力
• 維持關節活動度
• 維持正確的坐姿
• 矯正輔具 (e.g. Bracing) 需無法有效控制
側彎，但可以有很好的軀體支撐性
Downs J, Bergman A, Carter P, et al. Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence. Spine (Phila Pa
1976) 2009; 34:E607.
Harrison DJ, Webb PJ. Scoliosis in the Rett syndrome: natural history and treatment. Brain Dev 1990; 12:154.
Bassett GS, Tolo VT. The incidence and natural history of scoliosis in Rett syndrome. Dev Med Child Neurol 1990; 32:963.

27. 側彎－手術治療
• 若側彎角度
(Cobb angle)大
於40～50度，
建議手術治療
• 脊椎融合手術
Downs J, Bergman A, Carter P, et al. Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence. Spine (Phila Pa
1976) 2009; 34:E607.

28. 骨拆－治療

29. 骨拆－治療

30. 骨拆－治療

31. 骨拆－治療

32. 骨鬆－治療

33. 骨鬆－治療

34. 骨鬆－治療