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Nature. 2017 Feb 15;542(7641):348-351. doi: 10.1038/nature21369.

Early brain development in infants at high risk for autism spectrum disorder.

Author information

1
Department of Psychiatry, University of North Carolina, Chapel Hill, North Carolina 27599, USA.
2
Carolina Institute for Developmental Disabilities, Chapel Hill, North Carolina 27599, USA.
3
College of Charleston, Charleston, South Carolina 29424, USA.
4
Department of Educational Psychology, University of Minnesota, Minneapolis, Minnesota 55455, USA.
5
Institute of Child Development, University of Minnesota, Minneapolis, Minnesota 55455, USA.
6
Department of Biostatistics, University of North Carolina, Chapel Hill, North Carolina 27599, USA.
7
Department of Psychiatry, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
8
Montreal Neurological Institute, McGill University, Montreal, Quebec H3A 0G4, Canada.
9
Department of Radiology, University of Washington, Seattle, Washington 98105, USA.
10
Center on Human Development and Disability, University of Washington, Seattle, Washington 98105, USA.
11
Department of Speech and Hearing Sciences, University of Washington, Seattle, Washington 98105, USA.
12
Tandon School of Engineering, New York University, New York, New York 10003, USA.
13
Mallinckrodt Institute of Radiology, Washington University, St. Louis, Missouri 63110, USA.
14
Center for Autism Research, The Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
15
Department of Psychology, Temple University, Philadelphia, Pennsylvania 19122, USA.
16
Department of Pediatrics, University of Alberta, Edmonton, Alberta T6G 2R3, Canada.

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.

PMID:
28202961
PMCID:
PMC5336143
DOI:
10.1038/nature21369
[Indexed for MEDLINE]
Free PMC Article

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