Autism spectrum disorders (ASDs) are complex, lifelong, neurodevelopmental conditions of largely unknown cause. They are much more common than previously believed, second in frequency only to mental retardation among the serious developmental disorders. Although a heritable component has been demonstrated in ASD etiology, putative risk genes have yet to be identified. Environmental risk factors may also play a role, perhaps via complex gene-environment interactions, but no specific exposures with significant population effects are known. A number of endogenous biomarkers associated with autism risk have been investigated, and these may help identify significant biologic pathways that, in turn, will aid in the discovery of specific genes and exposures. Future epidemiologic research should focus on expanding population-based descriptive data on ASDs, exploring candidate risk factors in large well-designed studies incorporating both genetic and environmental exposure data and addressing possible etiologic heterogeneity in studies that can stratify case groups and consider alternate endophenotypes.

Objectives We sought to examine racial and ethnic disparities in the recognition of autism spectrum disorders (ASDs). Methods Within a multisite network, 2568 children aged 8 years were identified as meeting surveillance criteria for ASD through abstraction of evaluation records from multiple sources. Through logistic regression with random effects for site, we estimated the association between race/ethnicity and documented ASD, adjusting for gender, IQ, birthweight, and maternal education. Results Fifty-eight percent of children had a documented autism spectrum disorder. In adjusted analyses, children who were Black (odds ratio [OR] = 0.79; 95% confidence interval [CI] = 0.64, 0.96), Hispanic (OR = 0.76; CI = 0.56, 0.99), or of other race/ethnicity (OR = 0.65; CI = 0.43, 0.97) were less likely than were White children to have a documented ASD. This disparity persisted for Black children, regardless of IQ, and was concentrated for children of other ethnicities when IQ was lower than 70. Conclusions Significant racial/ethnic dispatrities exist in the recognition of ASD. For some children in some racial/ethnic groups, the presence of intellectual disability may affect professionals’ further assessment of developmental delay. Our findings suggest the need for continued professional education related to the heterogeneity of the presentation of ASD.

Objective At what age are children with an autism spectrum disorder (ASD) identified by community providers? What factors influence the timing of when children are identified with ASDs? This study examined the timing of when children with ASDs are identified. Method Data came from 13 sites participating in the Centers for Disease Control and Prevention’s 2002 multisite, ongoing autism surveillance program, the Autism and Developmental Disabilities Monitoring Network. Survival analysis was used to examine factors that influence the timing of community-based identification and diagnosis. Result Data from health and education records reveal that the median age of identification was 5.7 years (SE 0.08). Parametric survival models revealed that several factors were associated with a younger age of identification: being male, having IQ ≤ 70, and having experienced developmental regression. Significant differences in the age of identification among the 13 sites were also discovered. Conclusions The large gap between the age at which children can be identified and when they actually are identified suggests a critical need for further research, innovation, and improvement in this area of clinical practice.

These data highlight the need for clinicians to keep in mind the high prevalence of associated diagnoses with an ASD diagnosis, and the possibility that in younger children other symptoms or disorders may be masking or obscuring core symptoms of ASD, which would lead to a diagnosis.

Background One of the most consistent features of the autism spectrum disorders (ASDs) is the predominance among males, with approximately four males to every female. We sought to examine sex differences among children who met case definition for ASD in a large, population-based cohort with respect to age at first developmental evaluation, age of diagnosis, influence of cognitive impairment on these outcomes, and sex-specific behavioral characteristics. Methods We conducted a secondary analysis of data collected for a population-based study of the prevalence of ASD. The sample comprised 2,568 children born in 1994 who met the case definition of ASD as established by the Autism and Developmental Disabilities Monitoring (ADDM) Network for ASD surveillance. Children who had a history of developmental disability and behavioral features consistent with the DSM-IV-TR criteria for autistic disorder, Asperger's disorder, and Pervasive Developmental Disorder–Not Otherwise Specified in existing evaluation records were classified as ASD cases via two paths: streamlined and nonstreamlined. Streamlined reviews were conducted if there was an ASD diagnosis documented in the records. Data were collected in 13 sites across the United States through the ADDM Network, funded by the Centers for Disease Control and Prevention. Results Males constituted 81% of the sample. There were no differences by sex in average age at first evaluation or average age of diagnosis among those with an existing documented chart diagnosis of an ASD. Girls were less likely than boys to have a documented diagnosis (odds ratio [OR] = 0.76, p = .004). This analysis was adjusted for cognitive impairment status. In the logistic model, with the interaction term for sex and cognitive impairment, girls with IQ of 70 or less were less likely than boys with IQ of 70 or less to have a documented diagnosis (OR = 0.70, 95% confidence interval [CI] = 0.50–0.97, p = .035). Boys with IQ greater than 70 were less likely than boys with IQ of 70 or less to have a documented diagnosis (OR = 0.60, 95% CI = 0.49–0.74, p < .001). This finding (less likely to have a documented diagnosis) was also true for girls with IQ greater than 70 (OR = 0.45, 95% CI = 0.32–0.66, p < .001). Girls were more likely to have notations of seizure-like behavior (p < .001). Boys were more likely to have notations of hyperactivity or a short attention span and aggressive behavior (p < .01). Conclusions Girls, especially those without cognitive impairment, may be formally identified at a later age than boys. This may delay referral for early intervention. Community education efforts should alert clinicians and parents to the potential of ASDs in boys and girls.

The Study to Explore Early Development (SEED), a multisite investigation addressing knowledge gaps in autism phenotype and etiology, aims to: (1) characterize the autism behavioral phenotype and associated developmental, medical, and behavioral conditions and (2) investigate genetic and environmental risks with emphasis on immunologic, hormonal, gastrointestinal, and sociodemographic characteristics. SEED uses a case–control design with population-based ascertainment of children aged 2–5 years with an autism spectrum disorder (ASD) and children in two control groups—one from the general population and one with non-ASD developmental problems. Data from parent-completed questionnaires, interviews, clinical evaluations, biospecimen sampling, and medical record abstraction focus on the prenatal and early postnatal periods. SEED is a valuable resource for testing hypotheses regarding ASD characteristics and causes.

This study describes wives' self-reports of preparedness to care for their husbands' physical and emotional needs during the first 6 months after surgery for prostate cancer. The research questions addressed in this article are part of a larger study designed to test the effects of a standardized nursing intervention protocol (SNIP) on quality-of-life outcomes in men postprostatectomy. The Preparedness for Caregiving Scale (PCGS) was administered to wives, and an open-ended questionnaire solicited wives' descriptions of how they felt unprepared. The results suggest that nursing services are needed after hospital discharge to support patients and family caregivers to manage the physical and emotional effects related to the cancer diagnosis and treatment. The information gained can be used to refine a home-based nursing intervention to facilitate caregivers' preparedness to enhance patients' physical function and psychosocial adaptation, and ultimately the couple's quality of life.

Clinical guidelines recommend chromosomal microarray analysis (CMA) for all children with autism spectrum disorders (ASDs). We explored the test’s perceived usefulness among parents of children with ASD who had undergone CMA, and received a result categorized as pathogenic, variant of uncertain significance, or negative. Fifty-seven parents participated in a semi-structured telephone interview, and 50 also completed a survey. Most parents reported that CMA was helpful for their child and family. Major themes regarding perceived usefulness were: medical care, educational and behavioral interventions, causal explanation, information for family members, and advancing knowledge. Limits to utility, uncertainties and negative outcomes were also identified. Our findings highlight the importance of considering both health and non-health related utility in genomic testing.