Purpose: The Social Responsiveness Scale (SRS) is frequently used in research settings to measure characteristics associated with autism spectrum disorders (ASD). A short version has been developed but not yet tested for certain properties of the full SRS, such as familiality. The purpose of this study was to determine if prior familiality…

The aim of the study was to perform family-based association analysis of "PRKCB1," "CBLN1" and "KCNMB4" gene polymorphisms and autism disorder. We comprised 206 Caucasian children with autistic spectrum disorder (ASD) and their biological parents. In transmission/disequilibrium test we observed that T-allele of the…

The broad autism phenotype (BAP) is a set of characteristics often observed in typically developing people with a genetic load for autism, such as parents of autistic children. The Broad Autism Phenotypic Questionnaire (BAPQ) is a 36-item questionnaire developed to identify the BAP in first-degree relatives of autistic people. We translated the…

Several studies have shown a strong association between atopic diseases and autism spectrum disorder (ASD). However, the risk of atopic diseases in individuals having ASD-affected siblings has never been investigated. This nationwide population-based cohort study included 2762 individuals with ASD-affected siblings and 11,048 controls. Diagnoses…

The broad autism phenotype (BAP) refers to the phenotypic expression of an underlying genetic liability to autism, manifest in non-autistic relatives. This study examined the relationship among the "Broad Autism Phenotype Questionnaire" (BAPQ), "Social Responsiveness Scale: Adult Research Version" (SRS:ARV), and "Family…

The present study examined genetic and shared environment contributions to quantitatively-measured autism symptoms and categorically-defined autism spectrum disorders (ASD). Participants included 568 twins from the Interactive Autism Network. Autism symptoms were obtained using the Social Communication Questionnaire and Social Responsiveness…

The link between parental autistic tendency and anxiety symptoms was studied in 491 Taiwanese couples raising biological children with autism spectrum disorders (ASDs). Parental autistic tendency as measured by Autism Spectrum Quotient (AQ) was associated with anxiety symptoms across all domains. Large effect sizes were found in social phobia and…

Inborn errors of purine metabolism have been implicated as a cause for some cases of autism. This hypothesis is supported by the finding of decreased adenosine deaminase (ADA) activity in the sera of some children with autism and reports of an association of the A allele of the ADA G22A (Asp8Asn) polymorphism in individuals with autism of…

Questionnaires completed by 83 families of autistic children (5-23 years old) revealed that significantly more autistic children were non-right-handers than either their siblings or their parents. Findings suggest that increased mixed- and left-handedness in autistic persons is not due to inheritance. (CL)

To assess the possible role of familial psychopathology in the etiology of infantile autism, family histories and neurological status of 51 autistic subjects subgrouped by level of language function were evaluated. Among findings was a high incidence of Asperger's Syndrome in family members of high functioning autistic subjects. (Author/DB)

Few autistic brain samples are available for study, limiting investigations into molecular and histopathological abnormalities associated with this common disease. To facilitate distribution of samples, we have constructed a tissue array containing cerebral and cerebellar cores from 5 autistic children, 1 girl with Rett syndrome, and 5 age-matched…

Forty-two parents of children with autistic disorder, 15 children with autistic disorder, 17 siblings of children with autistic disorder, and 12 unrelated normal controls were studied for binding characteristics of their immunoglobulins. Results did not support the hypothesis that two specific autoantibodies are characteristic of autism.…

A literature review of autism and tuberous sclerosis complex (TSC) substantiates a significant association between the two. Studies of 14 autistic probands and 13 TSC probands identified 7 TSC subjects with autism, who had more seizures and mental retardation than those without autism. More male TSC probands with autism than female were…

This study evaluated the fragile X status of 116 Japanese patients with autism. None of the subjects was found to have the fragile X condition, a finding which is contrasted with results of 16 other studies. Possible racial factors or methodological complications are suggested as reasons for these findings. (DB)

A study of 202 patients with autism found the incidence of a dodecamer duplication in the HOPA gene was not significantly different between patients and controls. Three female patients inherited the duplication from nonautistic fathers. Also, there was no systematic skewing of X inactivation in female patients with the duplication. (Contains…