Early brain development in infants at high risk for autism spectrum disorder
Heather Cody Hazlett1,2, Hongbin Gu1, Brent C Munsell3
1Department of Psychiatry, University of North Carolina, Chapel Hill, North Carolina 27599, USA.
Insights
Early brain changes, including cortical surface area expansion, precede autism diagnosis in high-risk infants. These findings suggest potential for early detection and intervention in autism spectrum disorder (ASD).
Area of Science:
- Neuroscience
- Developmental Psychology
- Pediatric Neurology
Background:
- Brain enlargement is noted in children with autism spectrum disorder (ASD), but its early timing and relation to behavioral symptoms remain unclear.
- Studies suggest increased brain volume may emerge early, with social deficits in ASD appearing in the second year of life.
- Infant studies offer insights into early autism development, highlighting the need for prospective neuroimaging.
Purpose of the Study:
- To investigate early postnatal brain changes in infants at high familial risk for ASD.
- To determine if early brain volume changes precede ASD diagnosis and correlate with behavioral symptoms.
- To develop a predictive model for autism diagnosis using infant brain imaging.
Main Methods:
- Prospective neuroimaging study of 106 high-risk and 42 low-risk infants.
- Magnetic resonance imaging (MRI) to assess brain volume and cortical surface area at 6-12 and 12-24 months.
- Deep-learning algorithm applied to MRI data for autism prediction.
Main Results:
- Hyperexpansion of cortical surface area (6-12 months) preceded brain volume overgrowth (12-24 months) in high-risk infants diagnosed with autism.
- Brain volume overgrowth correlated with the emergence and severity of autistic social deficits.
- A deep-learning algorithm using 6-12 month surface area data predicted autism diagnosis at 24 months with 81% PPV and 88% sensitivity.
Conclusions:
- Early brain changes, specifically cortical surface area expansion, occur before autism diagnosis and the emergence of autistic behaviors.
- These findings highlight a critical window for early detection of autism spectrum disorder.
- Neuroimaging in infancy holds promise for predicting autism and guiding early interventions.
Abstract:
Brain enlargement has been observed in children with autism spectrum disorder (ASD), but the timing of this phenomenon, and the relationship between ASD and the appearance of behavioural symptoms, are unknown. Retrospective head circumference and longitudinal brain volume studies of two-year olds followed up at four years of age have provided evidence that increased brain volume may emerge early in development. Studies of infants at high familial risk of autism can provide insight into the early development of autism and have shown that characteristic social deficits in ASD emerge during the latter part of the first and in the second year of life. These observations suggest that prospective brain-imaging studies of infants at high familial risk of ASD might identify early postnatal changes in brain volume that occur before an ASD diagnosis. In this prospective neuroimaging study of 106 infants at high familial risk of ASD and 42 low-risk infants, we show that hyperexpansion of the cortical surface area between 6 and 12 months of age precedes brain volume overgrowth observed between 12 and 24 months in 15 high-risk infants who were diagnosed with autism at 24 months. Brain volume overgrowth was linked to the emergence and severity of autistic social deficits. A deep-learning algorithm that primarily uses surface area information from magnetic resonance imaging of the brain of 6-12-month-old individuals predicted the diagnosis of autism in individual high-risk children at 24 months (with a positive predictive value of 81% and a sensitivity of 88%). These findings demonstrate that early brain changes occur during the period in which autistic behaviours are first emerging.
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