A mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophy
A mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophy
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DOI：
10.1038/ejhg.2014.147
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发表时间：
2015-05-01
影响因子：
5.2
通讯作者：
Metcalfe, Sylvia A.
中科院分区：
文献类型：
--
作者：
Lawton, Sally;Hickerton, Chriselle;Metcalfe, Sylvia A.
脊髓性肌萎缩症（SMA）是一种常染色体隐性遗传性神经肌肉疾病，在澳大利亚的携带者频率为1/41。儿童SMA根据儿童出现症状的年龄和临床严重程度分为三种类型。家庭的经验导致诊断还没有描述，但重要的是考虑到潜在的诊断奥德赛。使用混合方法的方法，从访谈和SMA儿童家庭的全国性调查中收集数据，以探索他们在这一旅程中的经历。综合结果（n = 28）显示，接受诊断的旅程是漫长的。从第一次注意到症状到最终得到诊断的时间是情绪化和令人沮丧的。一旦父母或其他家庭成员意识到症状，几乎所有人都在最终诊断之前咨询了多个不同的卫生专业人员。毫不奇怪，接受诊断对家庭来说是毁灭性的。信息的性质和提供给他们的方式并不总是最佳的，特别是因为难以预测临床严重程度。大多数人认为，他们的孩子本可以更早地被诊断出来，尽管人们对这对他们的孩子有不同的看法，但他们认为这可能减少了对家庭的情感影响。总体而言，与新生儿人群筛查相比，家庭更支持人群SMA携带者筛查。尽管人们对SMA的认识不断提高，但诊断延迟仍然对家庭产生负面影响。
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease with a carrier frequency of 1 in 41 in Australia. Childhood SMA is classified into three types based on the age at which children present with symptoms and the clinical severity. Families' experiences leading up to the diagnosis have not been described, but are important when considering the potential for a diagnostic odyssey. Using a mixed methods approach, data were collected from interviews and a national survey of families of children with SMA to explore their experiences of this journey. The combined findings (n = 28) revealed that the journey to receiving a diagnosis was protracted. The time from first noticing symptoms to finally receiving a diagnosis was emotional and frustrating. Once parents or other family members became aware of symptoms, almost all had consulted with multiple different health professionals before the diagnosis was ultimately made. Not surprisingly, receiving the diagnosis was devastating to the families. The nature of the information and the way it was given to them was not always optimal, particularly because of the difficulties predicting clinical severity. Most felt that their child could have been diagnosed earlier and, although there were mixed views around the benefit of this for their child, they felt it may have reduced the emotional impact on families. Overall, families were more in favour of population carrier screening for SMA when compared with newborn screening of the population. Despite an increasing awareness of SMA, the diagnostic delay continues to have negative impacts on families.