Prediction of autism in infants: progress and challenges

Dawson, Geraldine; Rieder, Amber D.; Johnson, Mark H.

doi:10.1016/s1474-4422(22)00407-0

Cited by 24 publications

(18 citation statements)

References 101 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Autism spectrum disorder (ASD; henceforth ‘autism’) is a neurodevelopmental condition associated with challenges in social communication abilities and the presence of restricted and repetitive behaviors. Autism signs emerge between 9 and 18 months and include reduced attention to people, lack of response to name, differences in affective engagement and expressions and motor delays, among other features 1 . Commonly, children are screened for autism at their 18–24-month well-child visits using a parent questionnaire, the Modified Checklist for Autism in Toddlers-Revised with Follow-Up (M-CHAT-R/F) 2 .…”

Section: Mainmentioning

confidence: 99%

Early detection of autism using digital behavioral phenotyping

Perochon,

Di Martino,

Carpenter

et al. 2023

Nat Med

Self Cite

View full text Add to dashboard Cite

Early detection of autism, a neurodevelopmental condition associated with challenges in social communication, ensures timely access to intervention. Autism screening questionnaires have been shown to have lower accuracy when used in real-world settings, such as primary care, as compared to research studies, particularly for children of color and girls. Here we report findings from a multiclinic, prospective study assessing the accuracy of an autism screening digital application (app) administered during a pediatric well-child visit to 475 (17–36 months old) children (269 boys and 206 girls), of which 49 were diagnosed with autism and 98 were diagnosed with developmental delay without autism. The app displayed stimuli that elicited behavioral signs of autism, quantified using computer vision and machine learning. An algorithm combining multiple digital phenotypes showed high diagnostic accuracy with the area under the receiver operating characteristic curve = 0.90, sensitivity = 87.8%, specificity = 80.8%, negative predictive value = 97.8% and positive predictive value = 40.6%. The algorithm had similar sensitivity performance across subgroups as defined by sex, race and ethnicity. These results demonstrate the potential for digital phenotyping to provide an objective, scalable approach to autism screening in real-world settings. Moreover, combining results from digital phenotyping and caregiver questionnaires may increase autism screening accuracy and help reduce disparities in access to diagnosis and intervention.

show abstract

Section: Mainmentioning

confidence: 99%

Early detection of autism using digital behavioral phenotyping

Perochon,

Di Martino,

Carpenter

et al. 2023

Nat Med

Self Cite

View full text Add to dashboard Cite

show abstract

“…Identifying early markers that may signpost elevated risk for developmental delay is one way to improve these early detection and support efforts. Literature to date has shown that delays in early social and executive function markers may be predictive of later developmental delays and eventual neurodevelopmental diagnoses, such as autism [ 1 , 2 ]. Two at-risk infant groups that can show significant delays associated with social and executive function and have an elevated risk of meeting criteria for autism spectrum diagnoses include neonates admitted to the Neonatal Intensive Care Unit (NICU) and infants with, or at risk for, cerebral palsy (CP).…”

Section: Introductionmentioning

confidence: 99%

“…Thus far, reliable markers of autism have been established from the second year of life onwards. These markers include atypical social interaction and communication behaviours as well as distinct profiles of early temperament, motor development and attention [ 1 , 45 – 47 ]. However, there has been much less clarity on whether these markers exhibit predictive value in the first year of life, and particularly in the first 6 months [ 48 , 49 ].…”

Section: Introductionmentioning

confidence: 99%

Exploring early life social and executive function development in infants and risk for autism: a prospective cohort study protocol of NICU graduates and infants at risk for cerebral palsy

Boulton,

Lee,

Honan

et al. 2024

BMC Psychiatry

View full text Add to dashboard Cite

Background Delays in early social and executive function are predictive of later developmental delays and eventual neurodevelopmental diagnoses. There is limited research examining such markers in the first year of life. High-risk infant groups commonly present with a range of neurodevelopmental challenges, including social and executive function delays, and show higher rates of autism diagnoses later in life. For example, it has been estimated that up to 30% of infants diagnosed with cerebral palsy (CP) will go on to be diagnosed with autism later in life. Methods This article presents a protocol of a prospective longitudinal study. The primary aim of this study is to identify early life markers of delay in social and executive function in high-risk infants at the earliest point in time, and to explore how these markers may relate to the increased risk for social and executive delay, and risk of autism, later in life. High-risk infants will include Neonatal Intensive Care Unit (NICU) graduates, who are most commonly admitted for premature birth and/or cardiovascular problems. In addition, we will include infants with, or at risk for, CP. This prospective study will recruit 100 high-risk infants at the age of 3–12 months old and will track social and executive function across the first 2 years of their life, when infants are 3–7, 8–12, 18 and 24 months old. A multi-modal approach will be adopted by tracking the early development of social and executive function using behavioural, neurobiological, and caregiver-reported everyday functioning markers. Data will be analysed to assess the relationship between the early markers, measured from as early as 3–7 months of age, and the social and executive function as well as the autism outcomes measured at 24 months. Discussion This study has the potential to promote the earliest detection and intervention opportunities for social and executive function difficulties as well as risk for autism in NICU graduates and/or infants with, or at risk for, CP. The findings of this study will also expand our understanding of the early emergence of autism across a wider range of at-risk groups.

show abstract

“…Another possible future application of the findings by Jones et al is the use of eye tracking to identify infants younger than 1 year who have a higher likelihood of a later autism diagnosis. Eye tracking is one of several infant autism biomarkers currently being studied, which include brain-based biomarkers measured via magnetic resonance imaging, electroencephalography, and near-infrared spectroscopy . Eye tracking has the advantage of being relatively inexpensive and easy to administer.…”

mentioning

confidence: 99%

“…Differences in social attention based on eye tracking have been found in infants later diagnosed with autism as young as 2 to 6 months of age . Early behavioral signs of autism emerge between 6 and 12 months of age and include reduced attention to people, a lack of orienting when the infant’s name is called, reduced communicative babbling and gestures, differences in affect and social engagement, and motor delays . Future studies are needed to examine whether a combination of an eye-tracking test assessing social attention with other early behavioral signs increases accuracy of prediction of a later diagnosis of autism in infants.…”

mentioning

confidence: 99%