Examination of the impact of the Get SET Early program on equitable access to care within the screen-evaluate-treat chain in toddlers with autism spectrum disorder.

LAY ABSTRACT: Delays in autism spectrum disorder identification and access to care could impact developmental outcomes. Although trends are encouraging, children from historically underrepresented minority backgrounds are often identified at later ages and have reduced engagement in services. It is unclear if disparities exist all along the screen-evaluation-treatment chain, or if early detection programs such as Get SET Early that standardize, these steps are effective at ameliorating disparities. As part of the Get SET Early model, primary care providers administered a parent-report screen at well-baby examinations, and parents designated race, ethnicity, and developmental concerns. Toddlers who scored in the range of concern, or whose primary care provider had concerns, were referred for an evaluation. Rates of screening and evaluation engagement within ethnic/racial groups were compared to US Census data. Age at screen, evaluation, and treatment engagement and quantity was compared across groups. Statistical models examined whether key factors such as parent concern were associated with ethnicity or race. No differences were found in the mean age at the first screen, evaluation, or initiation or quantity of behavioral therapy between participants. However, children from historically underrepresented minority backgrounds were more likely to fall into the range of concern on the parent-report screen, their parents expressed developmental concerns more often, and pediatricians were more likely to refer for an evaluation than their White/Not Hispanic counterparts. Overall results suggest that models that support transparent tracking of steps in the screen-evaluation-treatment chain and service referral pipelines may be an effective strategy for ensuring equitable access to care for all children.

Pre-treatment clinical and gene expression patterns predict developmental change in early intervention in autism.

Early detection and intervention are believed to be key to facilitating better outcomes in children with autism, yet the impact of age at treatment start on the outcome is poorly understood. While clinical traits such as language ability have been shown to predict treatment outcome, whether or not and how information at the genomic level can predict treatment outcome is unknown. Leveraging a cohort of toddlers with autism who all received the same standardized intervention at a very young age and provided a blood sample, here we find that very early treatment engagement (i.e., <24 months) leads to greater gains while controlling for time in treatment. Pre-treatment clinical behavioral measures predict 21% of the variance in the rate of skill growth during early intervention. Pre-treatment blood leukocyte gene expression patterns also predict the rate of skill growth, accounting for 13% of the variance in treatment slopes. Results indicated that 295 genes can be prioritized as driving this effect. These treatment-relevant genes highly interact at the protein level, are enriched for differentially histone acetylated genes in autism postmortem cortical tissue, and are normatively highly expressed in a variety of subcortical and cortical areas important for social communication and language development. This work suggests that pre-treatment biological and clinical behavioral characteristics are important for predicting developmental change in the context of early intervention and that individualized pre-treatment biology related to histone acetylation may be key.

Identifying prognostic markers in autism spectrum disorder using eye tracking.

While many children with autism spectrum disorder are now detected at young ages given the rise in screening and general awareness, little is known regarding the prognosis of early detected children. The brain is shaped by experience-dependent mechanisms; thus, what a child pays attention to plays a pivotal role in shaping brain development. Eye tracking can provide an index of a child's visual attention and, as such, holds promise as a technology for revealing prognostic markers. In this, 49 children aged 1-3 years with autism spectrum disorder participated in an eye-tracking test, the GeoPref Test, that revealed preference for social versus nonsocial images. Next, children participated in a comprehensive test battery 5-9 years following the initial GeoPref Test. Statistical tests examined whether early age eye tracking predicted later school-age outcomes in symptom severity, social functioning, adaptive behavior, joint attention, and IQ. Results indicated that toddlers with higher preference for geometric images demonstrated greater symptom severity and fewer gaze shifts at school age. This relationship was not found in relation to IQ or adaptive behavior. Overall, the GeoPref Test holds promise as a symptom severity prognostic tool; further development of eye-tracking paradigms may enhance prognostic power and prove valuable in validating treatment progress.

Naturalistic language sampling to characterize the language abilities of 3-year-olds with autism spectrum disorder.

Characterization of language in naturalistic settings in autism spectrum disorder has been lacking, particularly at young ages, but such information is important for parents, teachers, and clinicians to better support language development in real-world settings. Factors contributing to this lack of clarity include conflicting definitions of language abilities, use of non-naturalistic standardized assessments, and restricted samples. The current study examined one of the largest datasets of naturalistic language samples in toddlers with autism spectrum disorder, and language delay and typically developing contrast groups at age 3. A range of indices including length of phrase, grammatical markings, and social use of language was assayed during a naturalistic observation of a parent-child play session. In contrast to historical estimates, results indicated only 3.7% of children with autism spectrum disorder used no words, and 34% were minimally verbal. Children with autism spectrum disorder and language delay exhibited similar usage of grammatical markings, although both were reduced compared to typically developing children. The greatest difference between autism spectrum disorder and language delay groups was the quantity of social language. Overall, findings highlight a range of language deficits in autism spectrum disorder, but also illustrate that the most severe level of impairments is not as common in naturalistic settings as previously estimated by standardized assessments.

Rethinking the idea of late autism spectrum disorder onset.

A common theory of autism spectrum disorder (ASD) symptom onset includes toddlers who do not display symptoms until well after age 2, which are termed late-onset ASD cases. Objectives were to analyze differences in clinical phenotype between toddlers identified as ASD at initial evaluations (early diagnosed) versus those initially considered nonspectrum, then later identified as ASD (late diagnosed). Two hundred seventy-three toddlers recruited from the general population based on a failed developmental screening form or parent or physician concerns were followed longitudinally from 12 months and identified as early- and late-diagnosed cases of ASD, language delayed, or typically developing. Toddlers completed common standardized assessments and experimental eye-tracking and observational measures every 9-12 months until age 3. Longitudinal performance on standardized assessments and experimental tests from initial evaluations were compared. Delay in social communication skills was seen in both ASD groups at early-age initial assessment, including increased preference for nonsocial stimuli, increased stereotypic play, reduced exploration, and use of gestures. On standardized psychometric assessments, early-diagnosed toddlers showed more impairment initially while late-diagnosed toddlers showed a slowing in language acquisition. Similar social communication impairments were present at very early ages in both early-detected ASD and so-called late-onset ASD. Data indicate ASD is present whether detected or not by current methods, and development of more sensitive tools is needed.

Measuring outcome in an early intervention program for toddlers with autism spectrum disorder: use of a curriculum-based assessment.

Measuring progress of children with autism spectrum disorder (ASD) during intervention programs is a challenge faced by researchers and clinicians. Typically, standardized assessments of child development are used within research settings to measure the effects of early intervention programs. However, the use of standardized assessments is not without limitations, including lack of sensitivity of some assessments to measure small or slow progress, testing constraints that may affect the child's performance, and the lack of information provided by the assessments that can be used to guide treatment planning. The utility of a curriculum-based assessment is discussed in comparison to the use of standardized assessments to measure child functioning and progress throughout an early intervention program for toddlers with risk for ASD. Scores derived from the curriculum-based assessment were positively correlated with standardized assessments, captured progress masked by standardized assessments, and early scores were predictive of later outcomes. These results support the use of a curriculum-based assessment as an additional and appropriate method for measuring child progress in an early intervention program. Further benefits of the use of curriculum-based measures for use within community settings are discussed.