Essay about Han Chinese individuals with ASD

Essay about Han Chinese individuals with ASD

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This investigation provides a solid foundation for future genetic studies of Han Chinese individuals with ASD and also identifies some caveats regarding future work in this population. With respect to the clinical characteristics of Han Chinese ASD cohorts, past studies have speculated that individuals with normal cognitive functioning or mild intellectual disability may be underrepresented in studies of Han Chinese individuals from mainland China (Zhang and Ji 2005). In this study, the use of the CARS and ABC screening instruments, may also contribute to some diagnostic bias. Since both of these tests rely on behavioral observations, cultural factors could influence the recognition of autistic behaviors. Particularly, different expectations with respect to age of first speech in boys (Daley and Sigman 2002) and a child’s capacity to maintain eye contact (Wallis and Pinto-Martin 2008) have been noted in ASD studies of Han Chinese individuals (Sun, Allison et al. 2013). ASD prevalence estimates from studies using the Autism Behavior Checklist are typically lower than those using other diagnostic instruments as the ABC scale is better able to identify cases with classical autism as opposed to high functioning cases (Sun, Allison et al. 2013). Similarly, the CARS diagnostic scale was created at the time of the DSM-III and does not account for all of the ASD criteria found in the DSM-IV (Perry, Condillac et al. 2005). Some groups have argued that the CARS score may be biased by the developmental level of the child as children with intellectual disabilities frequently have a score indicating greater severity using the CARS scale (Perry, Condillac et al. 2005).
Another potential confounder arises from the fact that many Chinese pedi...

... middle of paper ...

...on overlapping the final exon of YWHAE is a population-specific variant in some individuals of Han Chinese ancestry. CNVs overlapping this gene have been previously associated with autism and intellectual disability (Capra, Mirabelli-Badenier et al. 2012; Prasad, Merico et al. 2012; Curry, Rosenfeld et al. 2013; Roberts, Hovanes et al. 2014). In our study, we identified small gains overlapping the final exon in one proband, his mother, and two other mothers in our study. As a result, we caution against over-interpretation of copy number gains at the 3’ end of YWHAE. This example communicates the importance of using ancestry-matched controls when identifying rare variants in a population. We expect that as CNV studies become routine in other ASD populations, we will see additional examples of population-specific non-pathogenic CNVs overlapping ASD candidate genes.

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