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To examine the inter-rater reliability of Autism Diagnostic Interview-Revised, Japanese Version (ADI-R-JV), the authors recruited 51 individuals aged 3-19 years, interviewed by two independent raters. Subsequently, to assess the discriminant and diagnostic validity of ADI-R-JV, the authors investigated 317 individuals aged 2-19 years, who were divided into three diagnostic groups as follows: autistic disorder (AD), pervasive developmental disorder not otherwise specified, and other psychiatric diagnosis or no diagnosis, according to the consensus clinical diagnosis. As regards inter-rater reliability, intraclass correlation coefficients of greater than 0.80 were obtained for all three domains of ADI-R-JV. As regards discriminant validity, the mean scores of the three domains was significantly higher in individuals with AD than in those of other diagnostic groups. As regards diagnostic validity, sensitivity and specificity for correctly diagnosing AD were 0.92 and 0.89, respectively, but sensitivity was 0.55 for individuals younger than 5 years. Specificity was consistently high regardless of age and intelligence. ADI-R-JV was shown to be a reliable tool, and has sufficient discriminant validity and satisfactory diagnostic validity for correctly diagnosing AD, although the diagnostic validity appeared to be compromised with respect to the diagnosis of younger individuals.

The pervasive developmental disorders (PDDs) Autism Society Japan Rating Scale (PARS), an interview-based instrument for evaluating PDDs, has been developed in Japan with the aim of providing a method that (1) can be used to evaluate PDD symptoms and related support needs and (2) is simpler and easier than the currently used "gold standard" instruments such as the Autism Diagnostic Interview-Revised (ADI-R). We examined the reliability and validity of PARS on the basis of data from 572 participants (277 PDD patients and 295 nonclinical controls). Inter-rater reliability was sufficient at both the item and scale level. Factor analysis extracted four subscales, for which internal consistency was found to be high. The sub and total scores of PARS showed correlations with the domain and total scores of ADI-R, in line with theoretical prediction, indicating the convergent validity of PARS. A receiver operating characteristic analysis showed that PARS has good discriminative validity in differentiating between PDD patients and nonclinical controls, regardless of intellectual capacity. Considering that PARS can be easily implemented by professionals with appropriate knowledge regarding PDDs, PARS may be superior to the existing instruments in terms of cost performance. (Contains 5 tables and 1 figure.)

Social support in children and adolescents is fundamental for preventing mental health problems. Differences in sources and types of social support may lead to differential effects on psychosocial outcomes; however, tools to assess these differences are lacking in Japan. The present study investigated the reliability and validity of the Japanese version of the Child and Adolescent Social Support Scale (CASSS) in 1,068 students aged 9–15 years. A confirmatory factor analysis showed robustness for the five‐factor model, while the third‐order factor model, which integrated the overall scale and four subdomains (types: emotional, informational, appraisal, and instrumental) within the five domains (sources: parent, teacher, classmate, close friend, and school) above, also met criteria for good model fit. The overall scale and all domains and subdomains demonstrated sufficient internal consistency (α =.76–.98). For construct validity, there were significant correlations between CASSS scores and prosocial behavior, internalizing or externalizing problems as assessed by the Strength and Difficulties Questionnaire (SDQ), and depressive symptoms assessed by the Depression Self‐Rating Scale for Children (DSRS‐C). The agreement rate between these correlation coefficients and the prespecified hypothesis was 89.6%. These results suggest that the Japanese version of the CASSS has adequate reliability and validity and can be used to assess perceived social support among Japanese early adolescents. [ABSTRACT FROM AUTHOR]

Background: In a genome-wide association study of autism, zinc finger protein 804A (ZNF804A) single nucleotide polymorphisms (SNPs) were found to be nominally associated in verbally deficient individuals with autism. Zinc finger protein 804A copy number variations (CNVs) have also been observed in individuals with autism. In addition, ZNF804A is known to be involved in theory of mind (ToM) tasks, and ToM deficits are deemed responsible for the communication and social challenges faced by individuals with autism. We hypothesized that ZNF804A could be a risk gene for autism. Methods: We examined the genetic association and CNVs of ZNF804A in 841 families in which 1 or more members had autism. We compared the expression of ZNF804A in the postmortem brains of individuals with autism (n = 8) and controls (n = 13). We also assessed in vitro the effect of ZNF804A silencing on the expression of several genes known to be involved in verbal efficiency and social cognition. Results: We found that rs7603001 was nominally associated with autism (p = 0.018). The association was stronger (p = 0.008) in the families of individuals with autism who were verbally deficient (n = 761 families). We observed ZNF804A CNVs in 7 verbally deficient boys with autism. In ZNF804A knockdown cells, the expression of synaptosomal-associated protein, 25kDa (SNAP25) was reduced compared with controls (p = 0.009). The expression of ZNF804A (p = 0.009) and SNAP25 (p = 0.009) were reduced in the anterior cingulate gyrus (ACG) of individuals with autism. There was a strong positive correlation between the expression of ZNF804A and SNAP25 in the ACG (p < 0.001). Limitations: Study limitations include our small sample size of postmortem brains. Conclusion: Our results suggest that ZNF804A could be a potential candidate gene mediating the intermediate phenotypes associated with verbal traits in individuals with autism., Introduction Autism is a complex neurodevelopmental disorder characterized by deficiencies in social interaction and communication, and by repetitive and stereotyped behaviours. The abnormalities are usually identified in the early years [...]

Background: Synaptic dysfunction has been shown to be involved in the pathogenesis of autism. We hypothesized that the protocadherin a gene cluster (PCDHA), which is involved in synaptic specificity and in serotonergic innervation of the brain, could be a suitable candidate gene for autism. Methods: We examined 14 PCDHA single nucleotide polymorphisms (SNPs) for genetic association with autism in DNA samples of 3211 individuals (841 families, including 574 multiplex families) obtained from the Autism Genetic Resource Exchange. Results: Five SNPs (rs251379, rs1119032, rs17119271, rs155806 and rs17119346) showed significant associations with autism. The strongest association (p < 0.001) was observed for rs1119032 (z score of risk allele G = 3.415) in multiplex families; SNP associations withstand multiple testing correction in multiplex families (p = 0.041). Haplotypes involving rs1119032 showed very strong associations with autism, withstanding multiple testing corrections. In quantitative transmission disequilibrium testing of multiplex families, the G allele of rs1119032 showed a significant association (p = 0.033) with scores on the Autism Diagnostic Interview-Revised (ADI-R)_D (early developmental abnormalities). We also found a significant difference in the distribution of ADI-R_A (social interaction) scores between the A/A, A/G and G/G genotypes of rs17119346 (p = 0.002). Limitations: Our results should be replicated in an independent population and/or in samples of different racial backgrounds. Conclusion: Our study provides strong genetic evidence of PCDHA as a potential candidate gene for autism., Introduction Autism is a complex neurodevelopmental disorder characterized by social and communicative deficits and ritualistic-repetitive behaviours that are detectable in early childhood. It is one of the most heritable (> [...]