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.