[Reliability and Validity of the Abridged Chinese Version of Autism Spectrum Quotient-Child form in China].

OBJECTIVE: To determine the reliability and validity of the abridged Chinese version of the autism spectrum quotient (AQ) -child form. METHODS: A total of 86 children with autism spectrum disorder (ASD) were recruited from the West China Hospital from July 2014 to December 2016, along with 6 896 children recruited from three schools in Chengdu. The participants completed the AQ scale under instructions from a trained interviewer. Then 170 school children were selected and repeated the AQ scale within one month. RESULTS: All subscale scores were correlated with the scale score, but with weak inter-subscale correlations. The total AQ score of the control group was continuously distributed in the population, which was similar to the normal distribution. The skewness was -0.127 and the kurtosis was -0.124, indicating that the total AQ score was negatively skewed and slightly flat in the population.There were differences in AQ scores between different genders in community children (P<0.01), with male group (42.09±9.92) higher than female group (40.07±9.94).There was no gender difference in the ASD individuals. There was a correlation between age and AQ score (R=0.06).The autistic children had a higher AQ score (54.49±14.16) than the school children (41.12±9.98)(P<0.01). Similar results were found in the subscale scores, except for"attention to detail". The AQ scale had a Cronbach α coefficient of 0.71: ranging from 0.21 to 0.69 for the subscales. The test-retest reliability was good for the scale and the subscales (all P>0.05) . The sensitivity and specificity of AQ for screening ASD was both 0. 71. CONCLUSION: The abridged Chinese version of the AQ-child scale has good psychometrics properties and may be a valid and reliable instrument for ASD screening with a cut-off score of 48.

Associations of endocrine stress-related gene polymorphisms with risk of autism spectrum disorders: Evidence from an integrated meta-analysis.

Autism spectrum disorders (ASD) are related to serotonin transporter (5-HTT) and catechol-O-methyl transferase (COMT) as two most monoaminergic polymorphic variations. However, multiple studies assessing rs4680 and 5-HTTLPR variants in ASD have reported inconsistent results. Therefore, we conducted an integrated meta-analysis to combine case-control and transmission/disequilibrium test (TDT) studies to determine whether COMT and 5-HTT are associated with ASD. We searched multiple electronic databases (PubMed, EmBase and Web of Science) to identify studies assessing the rs4680 and 5-HTTLPR variants in ASD from Jan 1997 to Dec 2016. Then allelic data from case-control and TDT studies were analyzed by the Catmap package in the R software. A total of 5 studies were eligible for the meta-analysis of rs4680, including 3 case-control, 1 TDT and 1 TDT & case-control studies. Meanwhile, 22 studies of 5-HTTLPR were available, including 16 TDT, 4 case-control and 2 TDT & case-control studies. The current meta-analysis included 814 ASD cases, 741 controls and 311 families related to rs4680; 749 ASD cases, 1,118 controls and 1,861 families relevant to 5-HTTLPR were also evaluated. For rs4680, the pooled OR was 1.18 (95% CI = 0.87-1.59, P = 0.29, Pheterogeneity < 0.00001). There was no significant association of rs4680 with risk of ASD between the two subgroups. For 5-HTTLPR, the pooled OR was 1.05 (95% CI = 0.92-1.20, P = 0.4652, Pheterogeneity < 0.00001). Meanwhile, we found no significant risk in individual case-control or TDT studies. The above findings indicated that neither COMT rs4680 nor 5-HTT 5-HTTLPR polymorphism significantly affects ASD risk. Autism Res 2017, 10: 1722-1736. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Our results showed no evidence of significant association of either COMT rs4680 or 5-HTT 5-HTTLPR variants with ASD, showing that these two genes may not be major susceptible genetic factors in ASD occurrence, and may have a reciprocal action with each other in combination with environmental factors. These findings further provide evidence that a single gene variant may not dictate autism occurrence, but possibly contributes to a specific phenotype or subtype of ASD.