Zwaigenbaum Lonnie, Tarnopolsky Mark
Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.
J Autism Dev Disord. 2003 Apr;33(2):193-9. doi: 10.1023/a:1022947728569.
We report two children who were referred for diagnostic assessment for autism and were subsequently determined to have a muscular dystrophy (MD). Each child had a history of speech delay and social impairments, but also had motor delays that had not previously been investigated. Both children met diagnostic criteria for autism spectrum disorders on standardized assessment. Each child was hypotonic and had other mild motor impairments. Serum creatine kinase (CK) activity was markedly elevated in each child, and subsequent muscle biopsy led to diagnosis of Becker's MD and congenital (autosomal recessive) MD, respectively. These cases highlight the importance of a thorough neuromotor examination for all children with suspected autism spectrum disorders.
我们报告了两名因自闭症接受诊断评估的儿童，随后被确诊患有肌肉萎缩症（MD）。每个孩子都有语言发育迟缓及社交障碍的病史，但也存在此前未被调查的运动发育迟缓问题。在标准化评估中，两名儿童均符合自闭症谱系障碍的诊断标准。每个孩子都肌张力减退且伴有其他轻度运动障碍。两名儿童的血清肌酸激酶（CK）活性均显著升高，随后的肌肉活检分别确诊为贝氏肌肉萎缩症和先天性（常染色体隐性）肌肉萎缩症。这些病例凸显了对所有疑似自闭症谱系障碍儿童进行全面神经运动检查的重要性。
