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Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.

There are no epidemiological data on autism for Mexico. This study was conducted to generate a first estimate of ASD prevalence in Mexico. We surveyed children age eight in Leon (Guanajuato). The sample was stratified in two strata: (1) children having special education and medical records (SEMR; N = 432) and (2) children attending regular schools (GSS; N = 11,684). GSS children were screened with the SRS and those with the highest scores were invited to a diagnostic evaluation. The final sample comprised 36 children (80.6% male) who had confirmed ASD. A third had intellectual disability, 25% were non-verbal, 69% had co-occurring behavioral problems. The prevalence overall was 0.87% (95% CI 0.62, 1.1%). This survey provides an estimate for ASD prevalence in Mexico that is consistent with recent studies.

Background: Differences in how developmental pathways interact dynamically in children with autism spectrum disorder (ASD) likely contribute in important ways to phenotypic heterogeneity. This study aimed to model longitudinal reciprocal associations between social competence (SOC) and language (LANG) pathways in young children with ASD. Methods: Data were obtained from 365 participants aged 2-4 years who had recently been diagnosed with an ASD and who were followed over three time points: baseline (time of diagnosis), 6- and 12 months later. Using structural equation modeling, a cross-lagged reciprocal effects model was developed that incorporated auto-regressive (stability) paths for SOC (using the Socialization subscale of the Vineland Adaptive Behavior Scales-2) and LANG (using the Preschool Language Scale-4 Auditory Comprehension subscale). Cross-domain associations included within-time correlations and lagged associations. Results: SOC and LANG were highly stable over 12 months. Small reciprocal cross-lagged associations were found across most time points and within-time correlations decreased over time. There were no differences in strength of cross-lagged associations between SOC-LANG and LANG-SOC across time points. Few differences were found between subgroups of children with ASD with and without cognitive impairment. Conclusions: Longitudinal reciprocal cross-domain associations between social competence and language were small in this sample of young children with ASD. Instead, a pattern emerged to suggest that the two domains were strongly associated around time of diagnosis in preschoolers with ASD, and then appeared to become more independent over the ensuing 12 months.

Purpose: Impairments in the social use of language are universal in autism spectrum disorder (ASD), but few standardized measures evaluate communication skills above the level of individual words or sentences. This study evaluated the Expression, Reception, and Recall of Narrative Instrument (ERRNI; Bishop, 2004) to determine its contribution to assessing language and communicative impairment beyond the sentence level in children with ASD. Method: A battery of assessments, including measures of cognition, language, pragmatics, severity of autism symptoms, and adaptive functioning, was administered to 74 8- to 9-year-old intellectually able children with ASD. Results: Average performance on the ERRNI was significantly poorer than on the Clinical Evaluation of Language Fundamentals-Fourth Edition (CELF-4). In addition, ERRNI scores reflecting the number and quality of relevant story components included in the participants' narratives were significantly positively related to scores on measures of nonverbal cognitive skill, language, and everyday adaptive communication, and significantly negatively correlated with the severity of affective autism symptoms. Conclusion: Results suggest that the ERRNI reveals discourse impairments that may not be identified by measures that focus on individual words and sentences. Overall, the ERRNI provides a useful measure of communicative skill beyond the sentence level in school-aged children with ASD., Autism spectrum disorder (ASD) includes a range of neurodevelopmental conditions that are characterized by impairments in social communication and by the presence of repetitive and stereotyped interests and behavior (American [...]

Path analysis within a structural equation modeling framework was employed to examine the relationships between two types of parent stress and children's externalizing and internalizing behaviors over a 4-year period, in a sample of 184 mothers of young children with autism spectrum disorder. Parent stress was measured with the Parenting Stress Index-Short Form and child behavior was measured with Child Behavior Checklist/1.5-5. Across all time points, parent general distress predicted both types of child behaviors, but not vice versa. In addition, there was modest evidence of a bidirectional relationship between parenting distress and both types of child behaviors from 12 months post-diagnosis to age 6. Results are compared to previous work in this area, with implications for early intervention.

Autism Spectrum Disorders (ASDs) and childhood obesity (OBY) are rising public health concerns. This study aimed to evaluate the prevalence of overweight (OWT) and OBY in a sample of 376 Oregon children with ASD, and to assess correlates of OWT and OBY in this sample. We used descriptive statistics, bivariate, and focused multivariate analyses to determine whether socio-demographic characteristics, ASD symptoms, ASD cognitive and adaptive functioning, behavioral problems, and treatments for ASD were associated with OWT and OBY in ASD. Overall 18.1% of children met criteria for OWT and 17.0% met criteria for OBY. OBY was associated with sleep difficulties, melatonin use, and affective problems. Interventions that consider unique needs of children with ASD may hold promise for improving weight status among children with ASD.

The prevalence of autism spectrum disorders has been steadily rising. In most parts of the world, rates as high as 1% are reported, including in the United States. In Israel, previously reported prevalence rates have been in the 0.2% range, and were based on parental reporting of diagnosis. In this study, records from one of the largest Israeli Health Maintenance organizations were used to calculate both incidence and prevalence of autism spectrum disorder (ASD) in Israel. Israeli prevalence of ASD was calculated at 0.48% for 1-12 years olds and 0.65% for 8 year old children in 2010, higher than previous Israeli reports, but still lower than prevalence estimates for the US. Incidence calculations ranged from 0.65 to 0.84 per 1,000 children for children 1-12 year olds. Reasons for these differences are suggested and discussed.

Limited access to screening and evaluation for autism spectrum disorder in children is a major barrier to improving outcomes for marginalized families. To identify and evaluate available digital autism spectrum disorder screening resources, we simulated web and mobile app searches by a parent concerned about their child's likelihood of autism spectrum disorder. Included digital autism spectrum disorder screening tools (a) were on Internet or mobile app; (b) were in English; (c) had a parent user inputting data; (d) assigned likelihood category to child <9 years; and (e) screened for autism spectrum disorder. Ten search terms, developed using Google Search and parent panel recommendations, were used to search web and app tools in the United States, the United Kingdom, India, Australia, and Canada using Virtual Private Networks. Results were examined for attributes likely to benefit parents in marginalized communities, such as ease of searching, language versions, and reading level. The four terms most likely to identify any tools were "autism quiz," "autism screening tool," "does my child have autism," and "autism toddler." Three out of five searches contained autism spectrum disorder screening tools, as did one of 10 links or apps. Searches identified a total of 1475 websites and 919 apps, which yielded 23 unique tools. Most tools required continuous Internet access or offered only English, and many had high reading levels. In conclusion, screening tools are available, but they are not easily found. Barriers include inaccessibility to parents with limited literacy or limited English proficiency, and frequent encounters with games, advertisements, and user fees. Many parents wonder if their child might have autism. Many parents use their smartphones to answer health questions. We asked, "How easy or hard is it for parents to use their smartphones to find 'tools' to test their child for signs of autism?" After doing pretend parent searches, we found that only one in 10 search results were tools to test children for autism. These tools were not designed for parents who have low income or other challenges such as low literacy skills, low English proficiency, or not being tech-savvy. [ABSTRACT FROM AUTHOR]

There are no epidemiological data on autism for Mexico. This study was conducted to generate a first estimate of ASD prevalence in Mexico. We surveyed children age eight in Leon (Guanajuato). The sample was stratified in two strata: (1) children having special education and medical records (SEMR; N = 432) and (2) children attending regular schools (GSS; N = 11,684). GSS children were screened with the SRS and those with the highest scores were invited to a diagnostic evaluation. The final sample comprised 36 children (80.6 % male) who had confirmed ASD. A third had intellectual disability, 25 % were non-verbal, 69 % had co-occurring behavioral problems. The prevalence overall was 0.87 % (95 % CI 0.62, 1.1 %). This survey provides an estimate for ASD prevalence in Mexico that is consistent with recent studies., Author(s): Eric Fombonne[sup.1] , Carlos Marcin[sup.2] , Ana Cecilia Manero[sup.3] , Ruth Bruno[sup.4] , Christian Diaz[sup.3] , Michele Villalobos[sup.5] , Katrina Ramsay[sup.6] , Benjamin Nealy[sup.6] Author Affiliations: (1) Department of [...]

The impact of bilingual exposure on language learning has not been systematically studied in children with Autism Spectrum Disorders. This study compared the social abilities and language levels of children (mean age = 56 months) with ASDs from bilingual (n = 45) and monolingual (n = 30) environments. Bilingually-exposed children were subgrouped based on simultaneous bilingual exposure from infancy (SIM, n = 24) versus sequential post-infancy bilingual exposure (SEQ, n = 21). Despite significantly different amounts of bilingual exposure across all groups (p = less than 0.001) and significantly stronger social interaction scores in the SIM group compared to the SEQ group on the Vineland Adaptive Behavior Scales-II Interpersonal subdomain (p = 0.025), there were no significant group differences in language level. Bilingually-exposed children with ASDs did not experience additional delays in language development.

This study examined changes in the administrative prevalence of autism spectrum disorders (ASD) in Utah children from 2002 to 2008 by record source (school and health), age (four, six, and eight), and special education classification. Prevalence increased 100% with 1 in 77 children aged eight identified with ASD by 2008. Across study years and age groups rates were higher when health and school data were combined with a greater proportion of cases ascertained from health. The proportion of children with both a health ASD diagnosis and a special education autism classification did not significantly change. Most children with an ASD health diagnosis did not have an autism special education classification. Findings highlight the growing health and educational impact of ASD.

The purpose of this study was to compare a group of recently diagnosed bilingual-exposed children with autism (n = 20) aged 24-2 months with a matched group of monolingual-exposed children with autism (n = 40). The groups were matched with regard to chronological age at the time of language assessment and nonverbal IQ score, then compared with regard to the severity of children's autism-related communication impairment, age of first words, age of first phrases, receptive language scores, expressive language scores, and functional communication scores. Univariate ANOVAs were performed for autism-related communication impairment, age of first words, and age of first phrases. A MANCOVA, with the total number of speech-language and applied behavior analysis intervention hours entered as a covariate, was performed on the remaining dependent variables. No statistically significant differences between the two groups on any of the language measures were observed. The results suggest that a bilingual language environment does not disadvantage young children with autism in the early stages of language development. Study limitations and research and clinical implications are discussed. (Contains 3 tables.)

The present study examined diagnostic differentiation between school-aged children with autism spectrum disorders (ASD) and children with pragmatic language impairment (PLI). Standardized diagnostic instruments were used to investigate the relationship between severity of "autism triad" impairments and group membership. The Autism Diagnostic Observation Schedule was administered to 19 children with PLI and 22 children with ASD. Parents completed the Social Communication Questionnaire. There was a significant difference between diagnostic groups in the level of the severity of behaviors represented by the "Communication" and "Reciprocal Social Interaction" sub-domains on both diagnostic measures. Currently displayed "Repetitive and Restricted Behaviors and Interests" were not found to be useful for differentiating between groups. The similarities found between groups have important implications for intervention. (Contains 4 tables and 1 figure.)

This pilot study presents preliminary results concerning the prevalence of Pervasive Developmental Disorder (PDD) in South America. It was a three-phase study conducted in a typical town in Southeast Brazil. Case definition was based in a combination of standardized instruments and clinical evaluations by experts. The prevalence of PDD was 27.2/10,000 (95% CI: 17.6-36.8) and some hypotheses were raised to explain this low frequency. Clinical findings of PDD cases were consistent with previous data, such as, male preponderance, more children diagnosed with PDD-NOS than with autistic disorder, and half of them born from older mothers. Moreover, the study raised concerns about treatment of cases, because identification of PDD had been late and access to services has been very limited.

Purpose: The Preschool Language Scale, Fourth Edition (PLS-4; Zimmerman, Steiner, & Pond, 2002) was used to examine syntactic and semantic language skills in preschool children with autism spectrum disorders (ASD) to determine its suitability for use with this population. We expected that PLS-4 performance would be better in more intellectually able children and that receptive skills would be relatively more impaired than expressive abilities, consistent with previous findings in the area of vocabulary. Method: Our sample consisted of 294 newly diagnosed preschool children with ASD. Children were assessed via a battery of developmental measures, including the PLS-4. Results: As expected, PLS-4 scores were higher in more intellectually able children with ASD, and overall, expressive communication was higher than auditory comprehension. However, this overall advantage was not stable across nonverbal developmental levels. Expressive skills were significantly better than receptive skills at the youngest developmental levels, whereas the converse applied in children with more advanced development. Conclusions: The PLS-4 can be used to obtain a general index of early syntax and semantic skill in young children with ASD. Longitudinal data will be necessary to determine how the developmental relationship between receptive and expressive language skills unfolds in children with ASD. (Contains 2 figures.)

This study examined the factor structure of the Repetitive Behavior Scale-Revised (RBS-R) in a sample of 287 preschool-aged children with autism spectrum disorder (ASD). A confirmatory factor analysis was used to examine six competing structural models. Spearman's rank order correlations were calculated to examine the associations between factor scores and variables of interest. The 3- and 5-factor models were selected as preferable on the basis of fit statistics and parsimony. For both models, the strongest correlations were with problem behavior scores on the Child Behavior Checklist and repetitive behavior scores on the ADI-R. Developmental index standard scores were not correlated with factors in either model. The results confirm the utility of the RBS-R as a measure of repetitive behaviors in young children with ASD. (Contains 5 tables and 1 figure.)

There is a general lack of information about the economic impact of autistic spectrum disorder (ASD), particularly regarding adults and those with high-functioning ASD. In this study, the societal economic consequences of ASD were investigated using a sample of young high-functioning adults in need of employment support. A methodology for the collection of cost information was developed and information about how to avoid obstacles in the collection process was obtained. Today, many people with ASD who would be able to function in open employment do not get this opportunity. This study demonstrated that ASD results in high costs and indicates that a lack of supported employment programmes for people with ASD may have negative resource consequences for the economy. The study also contributes towards a methodology of economically evaluating supported employment programs as well as other interventions for people with high-functioning ASD.

There is a growing need for multicultural collaboration in child mental health services, training, and research. To facilitate such collaboration, this study tested the 8-syndrome structure of the Child Behavior Checklist (CBCL) in 30 societies. Parents' CBCL ratings of 58,051 6- to 18-year-olds were subjected to confirmatory factor analyses, which were conducted separately for each society. Societies represented Asia; Africa; Australia; the Caribbean; Eastern, Western, Southern, and Northern Europe; the Middle East; and North America. Fit indices strongly supported the correlated 8-syndrome structure in each of 30 societies. The results support use of the syndromes in diverse societies.

This study compared parents' ratings of behavioral and emotional problems on the "Child Behavior Checklist" (Achenbach, 1991; Achenbach & Rescorla, 2001) for general population samples of children ages 6 to 16 from 31 societies (N = 55,508). Effect sizes for society ranged from 0.03 to 0.14. Effect sizes for gender were less than or equal to 0.01, with girls generally scoring higher on Internalizing problems and boys generally scoring higher on Externalizing problems. Effect sizes for age were less than or equal to 0.01 and varied across types of problems. Total Problems scores for 19 of 31 societies were within 1 "SD" of the overall mean of 22.5. Bisociety correlations for mean item scores averaged 0.74. The findings indicate that parents' reports of children's problems were similar in many ways across highly diverse societies. Nonetheless, effect sizes for society were larger than those for gender and age, indicating the need to take account of multicultural variations in parents' reports of children's problems.

Standardized assessment instruments developed in one society are often used in other societies. However, it is important to determine empirically how assessment instruments developed in one society function in others. The present study tested the fit of the Teacher's Report Form syndrome structures in 20 diverse societies using data for 30,030 6- to 15-year-old students from Asia; Australia; the Caribbean; eastern, western, southern, and northern Europe; and the Middle East. A correlated seven-syndrome model and a hierarchical Attention Problems model were tested separately in each of the 20 societies via confirmatory factor analyses. The results supported the fit of the models in the tested societies. (Contains 5 tables and 2 figures.)

This study compared teachers' ratings of behavioral and emotional problems on the Teacher's Report Form for general population samples in 21 countries (N = 30,957). Correlations between internal consistency coefficients in different countries averaged 0.90. Effects of country on scale scores ranged from 3% to 13%. Gender effects ranged from less than 1% to 5%, and age effects were all less than 1%. With great consistency across countries, scores were higher for boys than for girls on eight scales: Total Problems; Externalizing; the Attention Problems, Rule-Breaking Behavior, and Aggressive Behavior syndromes; and "Diagnostic and Statistical Manual" (DSM)-oriented Attention Deficit Hyperactivity Problems, Oppositional Defiant Problems, and Conduct Problems. Correlations between mean item ratings in different countries averaged 0.74. Teacher's Report Form results were thus similar across 21 very diverse countries, despite differences across these countries in school systems, models of pedagogy, and curricula. (Contains 2 figures and 4 tables.)

We examined the stability of cognitive and adaptive behaviour standard scores in children with autism spectrum disorder (ASD) between diagnosis and school entry approximately age 6. IQ increased 18 points in 2-year-olds, 12 points in 3-year-olds, and 9 points in 4-year-olds (N = 281). Adaptive behaviour scores increased 4 points across age groups (N = 289). At school entry, 24 % of children met criteria for intellectual disability (cognitive and adaptive behaviour scores, Author(s): Helen E. Flanagan[sup.1] , Isabel M. Smith[sup.1] [sup.2] , Tracy Vaillancourt[sup.3] , Eric Duku[sup.4] , Peter Szatmari[sup.5] , Susan Bryson[sup.1] [sup.2] , Eric Fombonne[sup.6] , Pat Mirenda[sup.7] , Wendy [...]

Parents of children with autism spectrum disorder (ASD) and other chronic health conditions often face exceptional caregiving demands that can lead to challenges related to maintaining and succeeding in employment. Detailed information on the specific ways in which these health conditions impact parent employment could aid in designing equitable, effective policies to support families. The r‐Kids study used electronic health records to identify three groups of children: those with ASD, asthma, or neither condition (control), from several health care systems. We oversampled racial and ethnic minorities and matched the asthma and control groups to the age and sex distribution of the ASD group. Parents completed three online surveys over the course of a year to measure annual employment outcomes. Surveys included the Family Economic Impact Inventory (measuring employment impacts) and measures of quality of life and symptom severity. All materials were provided in English and Spanish. The study enrolled 1461 families (564 ASD, 468 asthma, 429 control). Youth were 3–16.5 years old and predominantly male (79%). The sample was diverse (43% non‐Hispanic White; 35% non‐Hispanic Asian, Black, Native Hawaiian, or Other; and 21% Hispanic ethnicity). Parents of children with ASD were significantly less likely to be employed than parents of youth with asthma and control combined (OR: 14.2, p < 0.001), and were more likely to have other difficulties with employment and productivity while at work. Public and employer policies to help mitigate these impacts could aid families in managing care for youth with ASD. Lay Summary: Caring for a child with a chronic health condition such as autism spectrum disorder (ASD) can interfere with parental employment in a number of ways. We found that parents of children with ASD are less likely to be employed, and when they are employed, many face challenges in managing productivity and caregiving. A detailed understanding of these impacts can guide clinical and employment policies to help families navigate the financial implications of a child's health condition. [ABSTRACT FROM AUTHOR]