Development and Replication of Objective Measurements of Social Visual Engagement to Aid in Early Diagnosis and Assessment of Autism

Abstract

ImportanceAutism 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.ObjectiveTo develop an objective performance-based tool to aid in early diagnosis and assessment of autism in children younger than 3 years.Design, Setting, and ParticipantsIn 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). Discovery and replication studies were conducted in specialty centers for autism diagnosis and treatment. Reference standard diagnoses were made using best-practice standardized protocols by specialists blind to eye-tracking results. Eye-tracking tests were administered by staff blind to clinical results. Children were enrolled from April 27, 2013, until September 26, 2017. Data were analyzed from March 28, 2018, to January 3, 2019.Main Outcomes and MeasuresPrespecified primary end points were the sensitivity and specificity of the eye-tracking–based index test compared with the reference standard. Prespecified secondary end points measured convergent validity between eye-tracking–based indices and reference standard assessments of social disability, verbal ability, and nonverbal ability.ResultsData were collected from 1089 children: 719 children (mean [SD] age, 22.4 [3.6] months) in the discovery study, and 370 children (mean [SD] age, 25.4 [6.0] months) in the replication study. In discovery, 224 (31.2%) were female and 495 (68.8%) male; in replication, 120 (32.4%) were female and 250 (67.6%) male. Based on reference standard expert clinical diagnosis, there were 386 participants (53.7%) with nonautism diagnoses and 333 (46.3%) with autism diagnoses in discovery, and 184 participants (49.7%) with nonautism diagnoses and 186 (50.3%) with autism diagnoses in replication. In the discovery study, the area under the receiver operating characteristic curve was 0.90 (95% CI, 0.88-0.92), sensitivity was 81.9% (95% CI, 77.3%-85.7%), and specificity was 89.9% (95% CI, 86.4%-92.5%). In the replication study, the area under the receiver operating characteristic curve was 0.89 (95% CI, 0.86-0.93), sensitivity was 80.6% (95% CI, 74.1%-85.7%), and specificity was 82.3% (95% CI, 76.1%-87.2%). Eye-tracking test results correlated with expert clinical assessments of children’s individual levels of ability, explaining 68.6% (95% CI, 58.3%-78.6%), 63.4% (95% CI, 47.9%-79.2%), and 49.0% (95% CI, 33.8%-65.4%) of variance in reference standard assessments of social disability, verbal ability, and nonverbal cognitive ability, respectively.Conclusions and RelevanceIn two diagnostic studies of children younger than 3 years, objective eye-tracking–based measurements of social visual engagement quantified diagnostic status as well as individual levels of social disability, verbal ability, and nonverbal ability in autism. These findings suggest that objective measurements of social visual engagement can be used to aid in autism diagnosis and assessment.

Mapping autism’s research landscape: trends in autism screening and its alignment with sustainable development goals

“…MRI has detected brain differences in autistic infants ( 86 ), and eye-tracking technology is used to study eye movements and gaze patterns, identifying atypical visual attention and social interaction patterns associated with ASD ( 87 ). More recently, the culmination of a seminal research line started in 2008, on eye-tracking and clinical diagnosis of autism, was announced early in 2023 ( 88 , 89 ). Furthermore, virtual reality ( 90 ) has shown promise as an innovative therapeutic tool in treating autism.…”

Autism Spectrum Disorder: Brain Areas Involved, Neurobiological Mechanisms, Diagnoses and Therapies

“…Under these conditions, the state of patients is often impaired due to their aggravating symptoms. Relevant especially for poor communities, recognition of the disease by experienced clinicians is essential in many terms: medical, operational and even economical [70,71]. For ASD children, diagnoses are often made by the application of advanced tests, such as the psychodiagnostic tests, a gold standard in diagnosing ASD, by including in the evaluations also the criteria of DSM-5 defined by the Diagnostic and Statistical Manual for Mental Disorders [9,72].…”

Transtorno do espectro autista: Uma abordagem da medicina da família e comunidade

“…Assim como o diagnóstico precoce é importante para realização de um tratamento multidisciplinar, ainda é necessário para que facilite o apoio oportuno e direcionado para ajudar a criança e a família do paciente diagnosticado conforme necessário (Jones, et al, 2023). Além de todas as dificuldades já enfrentadas pelas pessoas autistas, há aquelas relacionadas ao acesso e a interação com os prestadores de cuidado com a saúde, que além de aumentar o estresse, desencorajam os mesmos a procurar assistência.…”