Table of Contents

HK J Paediatr (New Series)
Vol 19. No. 3, 2014

HK J Paediatr (New Series) 2014;19:185-187

Case Report

Clinical Report: A Female with Down Syndrome and Autism

WZ Yang, YJ Zhao


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.

Keyword : Autism; Comorbidity; Down syndrome

Abstract in Chinese


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