杜氏肌营养不良症的早期诊断与二级预防
Early diagnosis and secondary prevention of Duchenne muscular dystrophy.
作者信息
Smith R A, Sibert J R, Wallace S J, Harper P S
机构信息
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff.
出版信息
Arch Dis Child. 1989 Jun;64(6):787-90. doi: 10.1136/adc.64.6.787.
A total of 33 young boys (mean age 3.4 years) with Duchenne muscular dystrophy and 21 normal controls (mean age 3.5 years) were assessed using the Griffiths's mental development scales and the Reynell language scales. The boys with Duchenne muscular dystrophy were significantly developmentally delayed when compared with the control group. The developmental delay was most pronounced in locomotor function and language. There was no significant difference in social class distribution. Early diagnosis of Duchenne muscular dystrophy is of vital importance if secondary cases within families are to be prevented. While diagnosis is still unacceptably late in most cases, it can be improved if all boys with this pattern of developmental delay are screened for Duchenne muscular dystrophy by measurement of creatine kinase activity.
共有33名患有杜氏肌营养不良症的男童（平均年龄3.4岁）和21名正常对照儿童（平均年龄3.5岁）接受了格里菲斯心理发展量表和雷内尔语言量表的评估。与对照组相比，患有杜氏肌营养不良症的男童在发育上明显延迟。发育延迟在运动功能和语言方面最为明显。社会阶层分布没有显著差异。如果要预防家庭中的二代病例，杜氏肌营养不良症的早期诊断至关重要。虽然在大多数情况下诊断仍然晚得令人无法接受，但如果通过测量肌酸激酶活性对所有有这种发育延迟模式的男童进行杜氏肌营养不良症筛查，诊断情况是可以改善的。
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