→ | CHOP INTEND |
→ | HFMSE |
→ | ULM、RULM |
→ | 6MWT |
→ | CMAP、MUNE |
測量: 動作發展里程碑
嬰兒(2-24個月大)
Hammersmith嬰兒神經檢查(HINE)是一種簡單且可計分的方法,用來判斷2個月至2歲嬰兒的病徵。 HINE包括3個部分,內含26個項目,可用來評估不同面向的神經功能7,8:
- 第1部分:神經系統檢查,評估腦神經功能、姿勢、活動力、張力、反射力、反應力
- 第2部分:發育指標(頭部控制、坐姿、自主性抓握、踢、滾動、爬行、站立、行走能力)
- 第3部分:行為評估(意識狀態、情緒狀態、社會取向)
HINE第二部分(動作發展里程碑)包括8個項目,以5個分數來標示不同程度,分別是0 到4分。0分表示無活動力,最高分數為4分9
- 有些項目的最高得分為2或3分(見下表)
HINE第二部分的計分圖表說明動作發展里程碑9
HINE第二部分的研究中,一般正常的249個嬰兒所達到的動作發展里程碑7
達成的年齡 |
% 達到里程碑 |
動作發展里程碑 |
達成的年齡12個月 |
% 達到里程碑90% |
動作發展里程碑能保持對頭部的控制 |
79% |
能在沒有支撐下站立 |
|
51% |
行走 |
|
達成的年齡18個月 |
% 達到里程碑90% |
動作發展里程碑在沒有支撐下站著/行走 |
在嬰兒型SMA(I型)中,動作發展里程碑的達成很罕見
一項對於病發於1至8個月嬰兒型的SMA患者(I型, n = 33) 的回溯性研究顯示,症狀嚴重的嬰兒中沒有任何人能達到重要的動作發展里程碑,例如滾動身體、獨立坐起、爬行、站立或步行。9
嬰兒型SMA中極少案例能夠達到動作發展里程碑。患有SMA最嚴重病症(早發)的嬰兒可能在HINE第二部分中所有8個項目的評估都為0分。9
REFERENCES
1. Finkel RS, McDermott MP, Kaufmann P, et al. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014;83(9):810-817. 2. Montes J, Gordon AM, Pandya S, De Vivo DC, Kaufmann P. Clinical outcome measures in spinal muscular atrophy. J Child Neurol. 2009;24(8):968-978. 3. Darras BT, Royden Jones H Jr, Ryan MM, De Vivo DC, eds. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. 2nd ed. London, UK: Elsevier; 2015. 4. Mercuri E, Finkel R, Montes J, et al. Patterns of disease progression in type 2 and 3 SMA: implications for clinical trials. Neuromuscul Disord. 2016;26(2):123-131. 5. Kolb SJ, Coffey CS, Yankey JW, et al; the NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators. Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study. Ann Clin Transl Neurol. 2016;3(2):132-145. 6. Data on file. Biogen Inc, Cambridge, MA. 7. Haataja L, Mercuri E, Regev R. Optimality score for the neurologic examination of the infant at 12 and 18 months of age. J Pediatr. 1999;135(2 pt 1):153-161. 8. Romeo DM, Ricci D, Brogna C, Mercuri E. Use of the Hammersmith Infant Neurological Examination in infants with cerebral palsy: a critical review of the literature. Dev Med Child Neurol. 2016;58(3):240-245. 9. De Sanctis R, Coratti G, Pasternak A, et al. Developmental milestones in type I spinal muscular atrophy. Neuromuscul Disord. 2016;26(11):754-759. 10. Glanzman AM, Mazzone E, Main M, et al. The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability. Neuromuscul Disord. 2010;20(3):155-161. 11. Glanzman AM, McDermott MP, Montes J. Validation of the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). Pediatr Phys Ther. 2011;23(4):322-326. 12. Spinal Muscular Atrophy Clinical Research Center. CHOP INTEND for SMA Type I score sheet. http://columbiasma.org/links.html. Updated March 14, 2013. Accessed April 26, 2016. 13. Finkel RS, Chiriboga CA, Vajsar J, et al. Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. Lancet. 2016; 388(10063):3017-3026. 14. Glanzman AM, O’Hagen JM, McDermott MP, et al; the Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR), and the Muscle Study Group (MSG). Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III. J Child Neurol. 2011;26(12):1499-1507. 15. The Pediatric Neuromuscular Clinical Research Network for SMA. Expanded Hammersmith Functional Motor Scale for SMA (HFMSE). http://columbiasma.org/links.html. March 7, 2009. Accessed April 25, 2016. 16. Kaufmann P, McDermott MP, Darras BT, et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology. 2012;79(18):1889-1897. 17. Sivo S, Mazzone E, De Sanctis, et al. Upper limb module in non-ambulant patients with spinal muscular atrophy: 12 month changes. Neuromuscul Disord. 2015;25(3):212-215. 18. Mazzone E, Bianco F, Martinelli D, et al. Assessing upper limb function in nonambulant SMA patients: development of a new module. Neuromuscul Disord. 2011;21(6):406-412. 19. Mazzone ES, Mayhew A, Montes J, et al. Revised Upper Limb Module for spinal muscular atrophy: development of a new module. Muscle Nerve. 2016. doi:10.1002/mus.25430. 20. Montes J, McDermott MP, Martens WB, et al. Six-minute walk test demonstrates motor fatigue in spinal muscular atrophy. Neurology. 2010;74(10):833-838. 21. Mazzone E, Bianco F, Main M, et al. Six minute walk test in type III spinal muscular atrophy: a 12 month longitudinal study. Neuromuscul Disord. 2013;23(8):624-628. 22. Swoboda KJ, Prior TW, Scott CB, et al. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol. 2005;57(5):704-712. 23. Arnold WD, Sheth KA, Wier CG, et al. Electrophysiological motor unit number estimation (MUNE) measuring compound muscle action potential (CMAP) in mouse hindlimb muscles. J Vis Exp. 2015;103:1-8. 24. Bromberg MB, Swoboda KJ. Motor unit number estimation in infants and children with spinal muscular atrophy. Muscle Nerve. 2002;25(3):445-447. 25. Monti RJ, Roy RR, Edgerton VR. Role of motor unit structure in defining function. Muscle Nerve. 2001;1;24(7):848-866. 26. Finkel RS. Electrophysiological and motor function scale association in a pre-symptomatic infant with spinal muscular atrophy type I. Neuromuscul Disord. 2013;23(2):112-115.
SMA患者的基本活動能力與病情進展如何決定日常活動與生活方式?
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