This paper examines family experiences with the efficiency of ASD diagnosis. Children were age 8 or younger with ASD (n = 450). Outcomes were delay from first parent concern to diagnosis, shifting diagnoses, and being told child did not have ASD. Predictors were screening, travel distance, and problems finding providers. Logit models were used to examine associations. Screening was associated with reduced delay in diagnosis; problems finding providers were associated with greater delay. Screening, travel distance, and delay in diagnosis were associated with shifting diagnoses and being told child did not have ASD. Physician and parent training in communication and addressing mental health professional shortages and maldistribution may improve the diagnosis experiences of families of children with ASD.

Treatment effects in patients with neurodegenerative LSRDs are best evaluated by repeated measures and longitudinal analysis of each domain of function.

Background Prenatal alcohol exposure can affect neurodevelopment, but few studies have examined associations with autism spectrum disorder (ASD). Methods We assessed the association between maternal alcohol use and ASD in the Study to Explore Early Development, a multi-site case-control study of children born September 2003 – August 2006 in the U.S. Regression analyses included 684 children with research clinician-confirmed ASD, 869 children with non-ASD developmental delays or disorders (DDs) and 962 controls ascertained from the general population (POP). Maternal alcohol exposure during each month from three months prior to conception until delivery was assessed by self-report. Results Mothers of POP children were more likely to report any prenatal alcohol use than mothers of children with ASD or DD. In trimester one, 21.2% of mothers of POP children reported alcohol use compared to 18.1% and 18.2% of mothers of children with ASD or DD, respectively (adjusted OR for ASD versus POP 0.8, 95% confidence interval 0.6, 1.1). During preconception and the first month of pregnancy, 1–2 drinks on average per week was inversely associated with ASD risk. Conclusions These results do not support an adverse association between low-level alcohol exposure and ASD, though these findings were based retrospective self-reported alcohol use. Unmeasured confounding or exposure misclassification may explain inverse associations with 1–2 drinks per week. Pregnant or potentially pregnant women should continue to follow recommendations to avoid alcohol use because of other known effects on infant health and neurodevelopment.

This study explored caregivers’ perspectives on facilitators and barriers to screening, diagnosis, and identifying and accessing other services for young children with autism spectrum disorder (ASD); and caregivers’ suggestions for improving the process. Eight focus groups with 55 caregivers were conducted. Four groups had a mix of White, African American, and Asian caregivers, and to gain broader populations, we recruited two groups of Spanish-speaking and two groups of American Indian caregivers. Some caregivers reported that their child and they received excellent services; however, the majority reported concerns about the services they and their child received. The findings also indicated a lower age of diagnosis and a smaller gap between concerns and diagnosis for White non-Hispanic children compared with Hispanic non-White children. Caregivers had many suggestions for ways to improve the process.

The autism spectrum disorder phenotype varies by social and communication ability and co-occurring developmental, behavioral, and medical conditions. Etiology is also diverse, with myriad potential genetic origins and environmental risk factors. Examining the influence of parental broader autism phenotype-a set of sub-clinical characteristics of autism spectrum disorder-on child autism spectrum disorder phenotypes may help reduce heterogeneity in potential genetic predisposition for autism spectrum disorder. We assessed the associations between parental broader autism phenotype and child phenotype among children of age 30-68 months enrolled in the Study to Explore Early Development (N = 707). Child autism spectrum disorder phenotype was defined by a replication of latent classes derived from multiple developmental and behavioral measures: Mild Language Delay with Cognitive Rigidity, Mild Language and Motor Delay with Dysregulation (e.g. anxiety/depression), General Developmental Delay, and Significant Developmental Delay with Repetitive Motor Behaviors. Scores on the Social Responsiveness Scale-Adult measured parent broader autism phenotype. Broader autism phenotype in at least one parent was associated with a child having increased odds of being classified as mild language and motor delay with dysregulation compared to significant developmental delay with repetitive motor behaviors (odds ratio: 2.44; 95% confidence interval: 1.16, 5.09). Children of parents with broader autism phenotype were more likely to have a phenotype qualitatively similar to broader autism phenotype presentation; this may have implications for etiologic research.