Investigating the autistic traits in children with attention deficit hyperactivity disorder / 中华行为医学与脑科学杂志

Objective To investigate the autistic symptoms or autistic trait in the children with attention deficit hyperactivity disorder(ADHD) for facilitating the development of appropriate interventions.Methods Sixty-two 6-12-year-old high-functioned autism spectrum disorder (ASD),ADHD and typically developing (TD) children were assessed respectively using Chinese-version social responsiveness scale (SRS),and ADHD core symptoms were assessed in the ADHD children at the same time.Results ASD group＞ADHD group＞ TD group on the SRS total raw score and the five dimensions scores as well(P＜0.01).ASD,ADHD and TD group scored respectively 92.43±19.17,65.66±19.86 and 38.40±10.68 on the SRS total scale.The SRS total raw score of ADHD group exceeded the TD group for 2.55 standard deviant (SD) and with social communication (2.00 SD) and autistic mannerism (2.71 SD) deviating the most.22.58％ (14 out of 62) children with ADHD scored above the threshold on the SRS total raw score which was significantly higher than that in the TD group(P＜0.01).There were nonsignificant differences in the ADHD core symptoms between ADHD± children (with the SRS total raw score ≥85)and ADHD-children(with the SRS total raw score＜85) (P＞0.01).Conclusion Children with ADHD appear more ASD symptoms than the TD children and a considerable proportion of them reach the SRS diagnostic cut-off point.

Copy number variation analysis of a Chinese Han family with autism spectrum disorder / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the copy number variation (CNV) in a Chinese Han autistic spectrum disorder (ASD) pedigree.</p><p><b>METHODS</b>The pedigree involved six siblings, and three of them were autistic. B lymphocytes of the pedigree were immortalized with EBV and used as studying materials. Karyotyping and Affymatrix 500k SNP chip assay were performed to assess the genetic defects among the members of the pedigree.</p><p><b>RESULTS</b>Karyotyping indicated that the chromosomes were normal. However, the 15q11 locus was located as de novo CNV region in all autistic siblings of the pedigree. In this locus, the fragment in 19827281-19998230 illustrated "loss" of CNV, while other three fragments with 37 kb, 1316 kb and 37 kb indicated "gain" of CNV.</p><p><b>CONCLUSION</b>In this study, olfactory genes OR11K1P, OR4Q1P, OR4H6P, OR4M2, etc. in the sites with loss and gain of CNV may provide a new clue for genetic research of autism spectrum disorder.</p>