杜氏肌营养不良-一个案例研究

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您请求的操作仅限于组中的用户:这个虚构的案例研究描述了一个被诊断为DMD的8岁男孩的评估和干预策略。我们的案例研究侧重于从晚期的动态发展到早期的非动态阶段的疾病。我们的评估通过神经学检查，ROM和手动肌肉测试来测量身体功能和结构损伤。通过步态和平衡评估以及客观结果测量(NSAA, 6MWT, MFM)来测量活动限制。参与限制通过两种PedsQL自我报告测量来测量:PedsQL 3.0神经肌肉模型和PedsQL 4.0通用核心量表，这两种量表被推荐用于神经肌肉疾病儿童的综合评估。Davis SE, Hynan LS, Limbers CA, Andersen CM, Greene MC, Varni JW，等。儿童杜氏肌萎缩症患者的PedsQL:儿童生活质量量表神经肌肉模块和通用核心量表的可行性、可靠性和有效性。临床神经肌肉疾病杂志。2010; 11(3): 97 - 109。由于他们的观点不同，孩子的自我报告和父母的代理报告都必须在每个测量中进行评估。这些评估工具让我们全面了解了疾病是如何影响J.D.的。这使我们能够制定有意义的和功能性的目标，以减缓功能衰退。 The long term goals that were developed were aimed at maintaining or improving outcome measures that were reassessed every 6 months. The interventions that were used focused on balance, ROM, introduction to respiratory training, and education about orthotics. As J.D. progressed towards the non-ambulatory phase, his performance on outcome measures declined and some measures were no longer applicable due to the loss of his functional mobility. At this stage, referral to other health professionals was needed for more detailed assessment and other intervention strategies as they would be addressed better by those professionals. Weekly physical therapy sessions will be continued to slow the disease progression. The unexpected challenges when working with patients in this population is dealing with the progressive nature of the disease. A holistic approach to treatment is needed when dealing with families of this disease as it can be emotionally draining on them. Ensuring independence for as long as possible can help increase social well-being and maintain high levels of overall quality of life for a longer period of time for the patient. Goal setting is an additional challenge that clinicians face when dealing with this population as it can be difficult to make goals that improve function and motivate the patient to achieve them. It is important to work with the patient and family to develop interventions that target compensation of function that can unveil abilities that the patient and their family may not have thought were possible given their condition. Health professionals should not settle to just maintain function but should aim to improve function through various intervention strategies. Continued monitoring of patient's status is required throughout the condition a decline in the body's systems may be gradual and may go unnoticed unless frequent reassessment occurs. When these changes unfold the treatment plan must be adjusted accordingly and new goals need to be developed. This stresses the importance of using outcome measures that are able to address changes in function across all stages of the disease. The MFM is able to accomplish this and should be used in conjunction with other tools such as the NSAA, 6MWT or [[Vignos Scale]]; which may not be applicable to the different stages and will need to be replaced. DMD can be a devastating condition to the family, however, improvements in research and high-quality multidisciplinary care has prolonged life expectancy and can maintain participation in activities that the patient feels are important for a longer period of time.

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