Functional neuroimaging of high-risk 6-month-old infants predicts a diagnosis of autism at 24 months of age

Emerson, Robert Wall; Adams, Chloe M.; Nishino, Tomoyuki; Hazlett, Heather C.; Wolff, Jason J.; Zwaigenbaum, Lonnie; Constantino, John N.; Shen, Mark D.; Swanson, Meghan R.; Elison, Jed T.; Kandala, Sridhar; Estes, Annette; Botteron, Kelly N.; Collins, D. Louis; Dager, Stephen R.; Evans, Alan C.; Gerig, Guido; Gu, Hongbin; McKinstry, Robert C.; Paterson, Sarah; Schultz, Robert T.; Styner, Martin; Schlaggar, Bradley L.; Pruett, John R.; Piven, Joseph

doi:10.1126/scitranslmed.aag2882

Cited by 271 publications

(178 citation statements)

References 54 publications

(74 reference statements)

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“…Early studies find only modest relationships between structural and functional biomarkers and cognition and behaviour. Machine-learning based prediction frameworks are beginning to be applied to infant imaging 201–203 and are needed to better predict developmental outcomes from early imaging parameters, in context of genetic, environmental and birth-related variables. It is unlikely that a single or even a few imaging parameters will have sufficient power for accurate prediction.…”

Section: Discussionmentioning

confidence: 99%

Imaging structural and functional brain development in early childhood

2018

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In humans, the period from term birth to ~2 years of age is characterized by rapid and dynamic brain development and plays an important role in cognitive development and risk for disorders such as autism and schizophrenia. Recent imaging studies have begun to delineate the growth trajectories of brain structure and function in the first years after birth and their relationship to cognition and risk for neuropsychiatric disorders. This Review discusses the development of grey and white matter, structural and functional networks, as well as genetic and environmental influences on early childhood brain development. We also discuss initial evidence regarding the usefulness of early imaging biomarkers for predicting cognitive outcomes and risk for neuropsychiatric disorders.

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Section: Discussionmentioning

confidence: 99%

Imaging structural and functional brain development in early childhood

2018

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“…Hyperexpansion of cortical surface area at 6 months and 12 months, which preceded brain volume overgrowth at 12 months and 24 months, informed a deep learning algorithm that correctly classified 30 of 34 high risk infants diagnosed with ASD at age 24 months (sensitivity 88%) and 138 of 145 high risk infants not diagnosed with ASD (specificity 95%) 78. Also in the IBIS high risk cohort (n=59), a functional connectivity MRI based machine learning algorithm applied at 6 months of age had a 81% sensitivity and 100% specificity for the diagnosis of ASD 79. Increased extra-axial cerebral spinal fluid volume at 6 months of age correlated with motor function at 6 months and was associated with a diagnosis of ASD at 24 months (80% sensitivity and 67% specificity) 80.…”

Section: Potential For Presymptomatic Detection: Advances In Biomarkementioning

confidence: 99%

Autism spectrum disorder: advances in diagnosis and evaluation

Zwaigenbaum

Penner

2018

BMJ

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164

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Autism spectrum disorder (ASD) has a variety of causes, and its clinical expression is generally associated with substantial disability throughout the lifespan. Recent advances have led to earlier diagnosis, and deep phenotyping efforts focused on high risk infants have helped advance the characterization of early behavioral trajectories. Moreover, biomarkers that measure early structural and functional connectivity, visual orienting, and other biological processes have shown promise in detecting the risk of autism spectrum disorder even before the emergence of overt behavioral symptoms. Despite these advances, the mean age of diagnosis is still 4-5 years. Because of the broad consistency in published guidelines, parameters for high quality comprehensive assessments are available; however, such models are resource intensive and high demand can result in greatly increased waiting times. This review describes advances in detecting early behavioral and biological markers, current options and controversies in screening for the disorder, and best practice in its diagnostic evaluation including emerging data on innovative service models.

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“…In infants later diagnosed with autism spectrum disorder (ASD), aberrant brain development is apparent during the first year of life, well before the defining features are exhibited (1–5). Delayed language onset is often the first warning sign for ASD, and the majority of affected individuals exhibit difficulties in speech production, speech comprehension, and/or pragmatic language (6).…”

Section: Introductionmentioning

confidence: 99%

Subcortical Brain and Behavior Phenotypes Differentiate Infants With Autism Versus Language Delay

Swanson

Shen

Elison

et al. 2017

Biological Psychiatry: Cognitive Neuroscience and Neuroimaging

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Background Younger siblings of children with autism spectrum disorder (ASD) are themselves at increased risk for ASD and other developmental concerns. It is unclear if infants who display developmental concerns, but are unaffected by ASD, share similar or dissimilar behavioral and brain phenotypes to infants with ASD. Most individuals with ASD exhibit heterogeneous difficulties with language, and their receptive-expressive language profiles are often atypical. Yet, little is known about the neurobiology that contributes to these language difficulties. Methods In this study, we used behavioral assessments and structural magnetic resonance imaging to investigate early brain structure and associations with later language skills. High-risk infants who were later diagnosed with ASD (n = 86) were compared to high-risk infants who showed signs of early language delay (n = 41), and high- and low-risk infants who did not have ASD or language delay (n= 255, n = 143, respectively). Results Results indicated that diminished language skills were evident at 12-months in infants with ASD and infants with early language delay. At 24-months of age, only the ASD infants displayed atypical receptive-expressive language profiles. Associations between 12-month subcortical volumes and 24-month language skills were moderated by group status, indicating disordinal brain-behavior associations among ASD infants and language delay infants. Conclusions These results suggest that there are different brain mechanisms influencing language development in ASD and language delay infants, and that the two groups likely experience unique sets of genetic and environmental risk factors.

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Functional neuroimaging of high-risk 6-month-old infants predicts a diagnosis of autism at 24 months of age

Cited by 271 publications

References 54 publications

Imaging structural and functional brain development in early childhood

Imaging structural and functional brain development in early childhood

Autism spectrum disorder: advances in diagnosis and evaluation

Subcortical Brain and Behavior Phenotypes Differentiate Infants With Autism Versus Language Delay

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