WZ Yang, YJ Zhao

Abstract

Objective: The association of autism and Down syndrome (DS) is comparatively uncommon, especially in females. We report a female patient with both DS and autism with detailed clinical information. Methods: The diagnosis of DS based on a particular set of facial characteristics, delayed growth and chromosomal analysis. Autism Behavior Checklist and the DSM-IV criteria of autism were used for the diagnosis of autism. Case presentation: A five-year-old girl was sent to our department due to unusual social development, language delay and restricted behaviour. At 8 months, she was diagnosed to have DS with the karyotype of 47, XX, +21. Autism was diagnosed based on the behaviour and the DSM-IV criteria. On the modified ABC, the score given by her mother was 90, which further supported the diagnosis. Conclusion: With low index of suspicion, autism/autism spectrum disorders can easily be missed in patients with DS. Increase in awareness that the 2 conditions can coexist in the same patient is important to paediatricians.

目的：同時合併唐氏綜合症與自閉症並不常見，病童為女孩則更為少見。我們報導1例唐氏綜合症伴隨自閉症女病童。方法：唐氏綜合症的診斷基於特定面容、生長發育延遲和染色體分析。自閉症的診斷基於ABC和DSM-IV標準。病例表現：1例5歲女孩由於社會交往發展異常、語言延遲和行為異常來院就診。染色體核型分析為47,XX,+21，診斷唐氏綜合症。自閉症的診斷基於行為表現與DSM-IV標準。其母對其通過改良ABC評分估測為90分，從而進一步確診為自閉症。結論：唐氏綜合症的臨床徵狀明顯，可以使自閉症的表現不易顯露出來，容易導致漏診。故兒科醫生必須提高警覺，因兩種疾病皆可並存。