A community support program for children with autism and their typically developing siblings: Initial investigation.

Siblings are a critical part of lifelong support for individuals with autism spectrum disorder (ASD). But siblings face their own social-emotional adjustment needs. These needs may be addressed through programs that include support groups specifically for the siblings. This study examined the effects of a community program on typical siblings' depression, anxiety, ASD knowledge, and peer network as well as reciprocal interactions between the typical sibling and sibling with ASD. The program provided a sibling support group, a skills intervention for children with ASD, and an inclusive recreation time. Siblings reported significant decreases in depression and physiological anxiety and improvements in their peer network. Autism knowledge increased but only approached significance. Direct observations revealed improvement in reciprocal interactions by most children that did not reach statistical significance. Parents, typical siblings, and interventionists indicated positive reactions to the program and its goals and outcomes. Findings are discussed in terms of the need to continue to explore interventions for siblings of children with ASD.

Factor analysis of repetitive behaviors in Autism as measured by the Y-BOCS.

The authors carried out a factor analysis of the Yale-Brown Obsessive-Compulsive Scale checklist at the category level in order to reduce the number of variables in this domain and ultimately identify possible endophenotypes; 181 children with autism were enrolled. The authors estimated a tetrachoric correlation matrix among the dichotomous symptom categories and then used exploratory and confirmatory factor analyses to identify a clinically meaningful factor structure for this correlation matrix. Their analysis supported a four-factor solution: obsessions, higher-order repetitive behaviors, lower-order repetitive behaviors, and hoarding. These findings are another step in the effort to identify genetically and biologically distinct groups within this population.

Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism.

Evidence for a genetic association between autism and two single nucleotide polymorphisms (SNPs), rs2056202 and rs2292813, in the mitochondrial aspartate/glutamate carrier (SLC25A12) gene led us to ask whether any of the four previously identified familial traits in autism spectrum disorders (ASD) varied by these SNPs. In 355 ASD cases from 170 sibships we examined levels of the four traits in these SNPs using ANCOVA models. The primary models selected unrelated affected cases and used age and sex as covariates. An ancillary set of models used all affected siblings and included "sibship" as a random effects independent variable. We found significantly lower levels of routines and rituals associated with the presence of the less frequent A allele in rs2056206. No other significant differences were observed. The rs2056202 polymorphism may be associated with levels of routines and rituals in autism and related disorders.

Sibling self-management: Programming for generalization to improve interactions between typically developing siblings and children with autism spectrum disorders.

The present study taught typically developing (TD) siblings of children with autism spectrum disorders (ASD) social-communicative and self-management skills. The authors' hypothesized that the acquisition of self-management skills would support generalization of targeted social-communicative responses. A multiple baseline probe design across sibling dyads was used to decrease exposure to unnecessary sessions in the absence of intervention. Four TD siblings were taught self-management of a social skills curriculum using behavioral skills training, which consisted of instructions, modeling, practice, and subsequent feedback. Results indicated that TD siblings learned to self-manage the social skills curriculum with some generalization across novel settings and over time. Comparisons of social-communicative responses to their typical peers provided some support for the social validity of the intervention outcomes. These results support the use of self-management, when explicitly programming for generalization, which continues to be a key consideration when including TD siblings in interventions with their siblings with ASD.

Increasing responding to others' joint attention directives using circumscribed interests.

Children with autism show significant deficits in joint attention (JA), which occurs when 2 people engage in verbalizations, gestures, or eye contact with each other and a common object. Children with autism also exhibit intense interests in specific topics (i.e., circumscribed interests; CI). This study investigated the effectiveness of teaching responding to JA directives (RJA) to 3 children with autism while engaged in CI activities. RJA increased during intervention and generalized from CI to preferred activities.

Brief report: parental age and the sex ratio in autism.

The male-to-female (M:F) ratio for autism spectrum disorders (ASD), typically about 4:1, appears to decrease with increasing paternal age, but this relationship has not been systematically tested. With 393 ASD cases from families with two or more ASD cases, we categorized paternal age into five age groups (<30, 30-34, 35-39, 40-44, 45+) and found that the M:F ratio was significantly decreased with increasing paternal age groups and remained so after also adjusting for maternal age. No significant relationship between maternal age group and the M:F ratio was observed. This study suggests that the M:F ratio is reduced with increasing paternal age consistent with de novo genetic or genomic anomalies arising more frequently as men age and then conceive children.

Family-based association study of TPH1 and TPH2 polymorphisms in autism.

The TPH1 and TPH2 genes encode the rate-limiting enzymes that control serotonin biosynthesis, and serotonin is clearly altered in autism. In the current study, eight SNPs in the TPH1 gene region and eight SNPs within the TPH2 gene were examined by family-based association tests in a large cohort of 352 families with autism and in clinically defined subsets of these families with either severe obsessive-compulsive behaviors (sOCB) or self-stimulatory behaviors (SSB). We found no evidence for association between autism and single SNPs or haplotypes of the TPH1 and TPH2 genes in the cohort of all families or in the sOCB and SSB subsets. In particular, we failed to replicate the association between autism and variants of the TPH2 gene, rs4341581 (TRANSMIT P = 1; PDT P = 0.323; FBAT P = 0.446) and rs11179000 (TRANSMIT P = 0.174; PDT P = 0.293; FBAT P = 0.374). Furthermore, no evidence for linkage was observed between autism and SNPs in the TPH1 and TPH2 genes (although linkage at the TPH2 locus was observed in the SSB subset). Thus, it appears unlikely that the TPH1 and TPH2 genes play a significant role in the susceptibility to autism or to autism endophenotypes including sOCB and SSB.