Ami Klin

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Health disparities are defined as preventable differences in the opportunities to achieve optimal health outcomes experienced by marginalized and underrepresented communities. For families with autistic children, health disparities limit accessing early intervention services-which have been found to improve quality of life and other outcomes. One specific early intervention service in the United States is Individuals with Disabilities Education Act, Part C Early Intervention programs, which are federally funded interventions for children birth-to-three with developmental delays...

With the upsurge of community uptake in population-based early screening for autism, the main obstacle to increasing access to early treatment and intervention services is the extremely limited access to high quality diagnosis, specifically the shortage of expert clinicians. Diagnostic evaluation models deployed by academic centers of excellence, which typically require the investment of 6-10 hours by specialized multidisciplinary teams, is not a viable solution to the vast needs of communities, resulting in parents' "diagnostic odysseys" and delays, often of several years, for treatment, interventions and supports...

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IMPORTANCE: Autism spectrum disorder is a common and early-emerging neurodevelopmental condition. While 80% of parents report having had concerns for their child's development before age 2 years, many children are not diagnosed until ages 4 to 5 years or later. OBJECTIVE: To develop an objective performance-based tool to aid in early diagnosis and assessment of autism in children younger than 3 years. DESIGN, SETTING, AND PARTICIPANTS: In 2 prospective, consecutively enrolled, broad-spectrum, double-blind studies, we developed an objective eye-tracking-based index test for children aged 16 to 30 months, compared its performance with best-practice reference standard diagnosis of autism (discovery study), and then replicated findings in an independent sample (replication study)...

IMPORTANCE: In the US, children with signs of autism often experience more than 1 year of delay before diagnosis and often experience longer delays if they are from racially, ethnically, or economically disadvantaged backgrounds. Most diagnoses are also received without use of standardized diagnostic instruments. To aid in early autism diagnosis, eye-tracking measurement of social visual engagement has shown potential as a performance-based biomarker. OBJECTIVE: To evaluate the performance of eye-tracking measurement of social visual engagement (index test) relative to expert clinical diagnosis in young children referred to specialty autism clinics...

Premature infants and infants later diagnosed with autism spectrum disorder (ASD) share many commonalities in clinical presentations. However, prematurity and ASD also have differences in clinical presentation. These overlapping phenotypes can lead to misdiagnoses of ASD or missing a diagnosis of ASD in preterm infants. We document these commonalities and differences in various developmental domains with the hope of aiding in the accurate early detection of ASD and timely intervention implementation in children born premature...

Early identification and diagnosis of autism spectrum disorder (ASD) is necessary to promote access to early treatment, a critical factor in optimizing children's lifetime outcomes. And yet, diagnosis is often late, delaying interventions to a time in which symptoms have aggravated and communication skills already show impairing differences. This review illustrates progress in developmental social neuroscience that shows promise in generating novel tools for objective and cost-effective early diagnosis of ASD...

The mechanisms by which infant-directed speech and song support language development in infancy are poorly understood, with most prior investigations focused on the auditory components of these signals. However, the visual components of infant-directed communication are also of fundamental importance for language learning: over the first year of life, infants' visual attention to caregivers' faces during infant-directed speech switches from a focus on the eyes to a focus on the mouth, which provides synchronous visual cues that support speech and language development...

Differential diagnosis of young children with suspected autism spectrum disorder (ASD) is challenging, and clinician uncertainty about a child's diagnosis may contribute to misdiagnosis and subsequent delays in access to early treatment. The current study was designed to replicate and expand a recent report in this Journal (McDonnell et al. in J Autism Dev Disord 49:1391-1401, https://doi.org/10.1080/15374416.2020.1823850 , 2019), in which only 60% of diagnoses were made with complete certainty by clinicians evaluating 478 toddlers and preschool children referred for possible ASD to specialized clinics...

Children who are nurtured, protected, and supported in the first years of life tend to have better individual outcomes and are more likely to grow to become healthy, productive adults. Child well-being varies across states, yet the field lacks a comprehensive review of infant and toddler indicators measured at the state-level. This paper reviews indicators of well-being from the prenatal period to three years that meet certain a priori criteria. Most of the child-level indicators identified were in the physical health domain; relatively fewer indicators were found in the early cognition and language or social-emotional-behavioral domains...

Social-communication differences are a robust and defining feature of autism spectrum disorder (ASD) but identifying early points of divergence in infancy has been a challenge. The current study examines social communication in 9- to 12-month-old infants who develop ASD (N = 30; 23% female; 70% white) compared to typically developing (TD) infants (N = 94, 38% female; 88% white). Results demonstrate that infants later diagnosed with ASD were already exhibiting fewer social-communication skills using eye gaze, facial expression, gestures, and sounds at 9 months (effect size: 0...

Infants show shifting patterns of visual engagement to faces over the first years of life. To explore the adaptive implications of this engagement, we collected eye-tracking measures on cross-sectional samples of 10-25-month-old typically developing toddlers (TD;N = 28) and those with autism spectrum disorder (ASD;N = 54). Concurrent language assessments were conducted and relationships between visual engagement and expressive and receptive language were analyzed between groups, and within ASD subgroups...

The national priority to advance early detection and intervention for children with autism spectrum disorder (ASD) has not reduced the late age of ASD diagnosis in the US over several consecutive Centers for Disease Control and Prevention (CDC) surveillance cohorts, with traditionally under-served populations accessing diagnosis later still. In this review, we explore a potential perceptual barrier to this enterprise which views ASD in terms that are contradicted by current science, and which may have its origins in the current definition of the condition and in its historical associations...

OBJECTIVES: African American (AA) children affected by autism spectrum disorder (ASD) experience delays in diagnosis and obstacles to service access, as well as a disproportionate burden of intellectual disability (ID) as documented in surveillance data recently published by the US Centers for Disease Control and Prevention. Our objective in this study was to analyze data from the largest-available repository of diagnostic and phenotypic information on AA children with ASD, and to explore the wide variation in outcome within the cohort as a function of sociodemographic risk and specific obstacles to service access for the purpose of informing a national approach to resolution of these disparities...

Early intervention helps to address developmental delays in young children with autism spectrum disorder. Yet, research suggests there are barriers to enrollment into research studies that test the effectiveness of these interventions for infants at risk. This study identifies family characteristics that were associated with agreement to enroll in a clinical trial of early intervention for 12-month-old infants at risk for autism spectrum disorder. As part of a large longitudinal study, infants were evaluated for early signs of autism spectrum disorder at 1 year of age...

Eye-blinking has emerged as a promising means of measuring viewer engagement with visual content. This method capitalizes on the fact that although we remain largely unaware of our eye-blinking in everyday situations, eye-blinks are inhibited at precise moments in time so as to minimize the loss of visual information that occurs during a blink. Probabilistically, the more important the visual information is to the viewer, the more likely he or she will be to inhibit blinking. In the present study, viewer engagement was experimentally manipulated in order to: (1) replicate past studies suggesting that a group of viewers will blink less often when watching content that they perceive as more important or relevant; (2) test the reliability of the measure by investigating constraints on the timescale over which blink rate patterns can be used to accurately quantify viewer engagement; and (3) examine whether blink rate patterns can be used to quantify what an individual - as opposed to a group of viewers-perceives as engaging...

Importance: Autism spectrum disorder (ASD) is a neurodevelopmental disorder associated with different genetic etiologies. Prospective examination of familial-risk infants informs understanding of developmental trajectories preceding ASD diagnosis, potentially improving early detection. Objective: To compare outcomes and trajectories associated with varying familial risk for ASD across the first 3 years of life. Design, Setting, and Participants: This longitudinal, prospective cohort study used data from 11 sites in the Baby Siblings Research Consortium database...

The preponderance of causal influence on total population attributable risk for autism is polygenic in nature, but it is not known how such liability engenders the development of the syndrome. In 348 epidemiologically ascertained toddler twins, we explored associations between autistic traits and three robust, highly heritable predictors of familial autism recurrence: variation in attention, motor coordination, and parental autistic trait burden. We observed that these predictors-despite collectively accounting for over one third of variance in clinical recurrence-are genetically independent in early childhood, and jointly account for a comparable share of inherited influence on early reciprocal social behavior in the general population...

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