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

Nature

Volumn 542, Issue 7641, 2017, Pages 348-351

  Hazlett, Heather Cody ^a   Gu, Hongbin ^a   Munsell, Brent C ^b   Kim, Sun Hyung ^a   Styner, Martin ^a   Wolff, Jason J ^c   Elison, Jed T ^c   Swanson, Meghan R ^a   Zhu, Hongtu ^d   Botteron, Kelly N ^e   Collins, D Louis ^h   Constantino, John N ^e   Dager, Stephen R ^f,g   Estes, Annette M ^g   Evans, Alan C ^h   Fonov, Vladimir S ^h   Gerig, Guido ⁱ   Kostopoulos, Penelope ^h   McKinstry, Robert C ^j   Pandey, Juhi ^k   Paterson, Sarah ^l   Pruett, John R ^e   Schultz, Robert T ^k   Shaw, Dennis W ^f,g   Zwaigenbaum, Lonnie ^m   Piven, Joseph ^a   more..

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b School of Business   (United States)

^c UNIVERSITY OF MINNESOTA   (United States)

^d IL   (United States)

^e WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF WASHINGTON   (United States)

^h MCGILL UNIVERSITY   (Canada)

ⁱ POLYTECHNIC UNIVERSITY   (United States)

^j WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k UNIVERSITY OF PENNSYLVANIA   (United States)

^l TEMPLE UNIVERSITY   (United States)

^m UNIVERSITY OF ALBERTA   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALGORITHM; BIOLOGICAL DEVELOPMENT; BRAIN; CHILD HEALTH; HEALTH RISK; NERVOUS SYSTEM DISORDER; SURFACE AREA; SYMPTOM;

ARTICLE; AUTISM; BRAIN DEVELOPMENT; BRAIN SIZE; CHILD DEVELOPMENT; CONTROLLED STUDY; CUNEUS; FEMALE; HIGH RISK INFANT; HUMAN; INFANT; INFERIOR TEMPORAL GYRUS; LEARNING ALGORITHM; LINGUAL GYRUS; LOW RISK PATIENT; MAJOR CLINICAL STUDY; MALE; MIDDLE FRONTAL GYRUS; MIDDLE OCCIPITAL GYRUS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PREDICTIVE VALUE; PRIORITY JOURNAL; PROSPECTIVE STUDY; SENSITIVITY AND SPECIFICITY; SOCIAL BEHAVIOR; SURFACE AREA; AUTISM SPECTRUM DISORDER; BRAIN; FAMILY HEALTH; GENETICS; GROWTH, DEVELOPMENT AND AGING; LONGITUDINAL STUDY; PATHOLOGY; PRESCHOOL CHILD; PROGNOSIS; PSYCHOLOGY; RISK;

AUTISM SPECTRUM DISORDER; BRAIN; CHILD, PRESCHOOL; FAMILY HEALTH; FEMALE; HUMANS; INFANT; LONGITUDINAL STUDIES; MALE; NEUROIMAGING; PROGNOSIS; RISK; SOCIAL BEHAVIOR;

EID: 85016150530     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature21369     Document Type: Article

References (51)

1. Hazlett, H. C. et al. Magnetic resonance imaging and head circumference study of brain size in autism: birth through age 2 years. Arch. Gen. Psychiatry 62, 1366-1376 (2005).
2. Hazlett, H. C. et al. Early brain overgrowth in autism associated with an increase in cortical surface area before age 2 years. Arch. Gen. Psychiatry 68, 467-476 (2011).
3. Ozonoff, S. et al. A prospective study of the emergence of early behavioral signs of autism. J. Am. Acad. Child Adolesc. Psychiatry 49, 256-266.e1, 2 (2010).
4. Zwaigenbaum, L. et al. Behavioral manifestations of autism in the first year of life. Int. J. Dev. Neurosci. 23, 143-152 (2005).
5. Piven, J. et al. An MRI study of brain size in autism. Am. J. Psychiatry 152, 1145-1149 (1995).
6. Courchesne, E. et al. Unusual brain growth patterns in early life in patients with autistic disorder: an MRI study. Neurology 57, 245-254 (2001).
7. Schumann, C. M. et al. Longitudinal magnetic resonance imaging study of cortical development through early childhood in autism. J. Neurosci. 30, 4419-4427 (2010).
8. Sparks, B. F. et al. Brain structural abnormalities in young children with autism spectrum disorder. Neurology 59, 184-192 (2002).
9. Shen, M. D. et al. Early brain enlargement and elevated extra-axial fluid in infants who develop autism spectrum disorder. Brain 136, 2825-2835 (2013).
10. Lord, C., Rutter, M., DiLavore, P. C. & Risi, S. The Autism Diagnostic Observation Schedule. (Western Psychological Services, 2000).
11. Wetherby, A. & Prizant, B. Communication and Symbolic Behavior Scales Developmental Profile, First Normed Edition. (Paul H. Brookes, 2002).
12. Li, G. et al. Mapping longitudinal hemispheric structural asymmetries of the human cerebral cortex from birth to 2 years of age. Cereb. Cortex 24, 1289-1300 (2014).
13. Elison, J. T. et al. White matter microstructure and atypical visual orienting in 7-month-olds at risk for autism. Am. J. Psychiatry 170, 899-908 (2013).
14. Estes, A. et al. Behavioral, cognitive, and adaptive development in infants with autism spectrum disorder in the first 2 years of life. J. Neurodev. Disord. 7, 24 (2015).
15. Qureshi, A. Y. et al. Opposing brain differences in 16p11.2 deletion and duplication carriers. J. Neurosci. 34, 11199-11211 (2014).
16. Bernier, R. et al. Disruptive CHD8 mutations define a subtype of autism early in development. Cell 158, 263-276 (2014).
17. Panizzon, M. S. et al. Distinct genetic influences on cortical surface area and cortical thickness. Cereb. Cortex 19, 2728-2735 (2009).
18. Rakic, P. A small step for the cell, a giant leap for mankind: a hypothesis of neocortical expansion during evolution. Trends Neurosci. 18, 383-388 (1995).
19. Chenn, A. & Walsh, C. A. Regulation of cerebral cortical size by control of cell cycle exit in neural precursors. Science 297, 365-369 (2002).
20. Casanova, M. F. et al. Minicolumnar abnormalities in autism. Acta Neuropathol. 112, 287-303 (2006).
21. Hill, J. et al. Similar patterns of cortical expansion during human development and evolution. Proc. Natl Acad. Sci. USA 107, 13135-13140 (2010).
22. Packer, A. Neocortical neurogenesis and the etiology of autism spectrum disorder. Neurosci. Biobehav. Rev. 64, 185-195 (2016).
23. Fang, W. Q. et al. Overproduction of upper-layer neurons in the neocortex leads to autism-like features in mice. Cell Reports 9, 1635-1643 (2014).
24. Pucilowska, J. et al. The 16p11.2 deletion mouse model of autism exhibits altered cortical progenitor proliferation and brain cytoarchitecture linked to the ERK MAPK pathway. J. Neurosci. 35, 3190-3200 (2015).
25. Nonaka-Kinoshita, M. et al. Regulation of cerebral cortex size and folding by expansion of basal progenitors. EMBO J. 32, 1817-1828 (2013).
26. Sugathan, A. et al. CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. Proc. Natl Acad. Sci. USA 111, E4468-E4477 (2014).
27. Cotney, J. et al. The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment. Nat. Commun. 6, 6404 (2015).
28. Marchetto, M. C. et al. Altered proliferation and networks in neural cells derived from idiopathic autistic individuals. Mol. Psychiatry http://dx.doi.org/10.1038/mp.2016.95 (2016).
29. Charman, T. Early identification and intervention in autism spectrum disorders: some progress but not as much as we hoped. Int. J. Speech Lang Pathol. 16, 15-18 (2014).
30. Landa, R. J., Gross, A. L., Stuart, E. A. & Faherty, A. Developmental trajectories in children with and without autism spectrum disorders: the first 3 years. Child Dev. 84, 429-442 (2013).
31. Messinger, D. et al. Beyond autism: a baby siblings research consortium study of high-risk children at three years of age. J. Am. Acad. Child Adolesc. Psychiatry 52, 300-308.e1 (2013).
32. Georgiades, S. et al. A prospective study of autistic-like traits in unaffected siblings of probands with autism spectrum disorder. JAMA Psychiatry 70, 42-48 (2013).
33. Ozonoff, S. et al. The broader autism phenotype in infancy: when does it emerge? J. Am. Acad. Child Adolesc. Psychiatry 53, 398-407.e2 (2014).
34. Hazlett, H. C. et al. Brain volume findings in 6-month-old infants at high familial risk for autism. Am. J. Psychiatry 169, 601-608 (2012).
35. Lord, C., Rutter, M. & Le Couteur, A. Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J. Autism Dev. Disord. 24, 659-685 (1994).
36. Mullen, E. M. Mullen Scales of Early Learning: AGS edn (American Guidance Service, 1995).
37. Sparrow, S., Balla, D. & Cicchetti, D. Vineland Scales of Adaptive Behavior: A Survey Form Manual. (American Guidance Service, 1984).
38. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders (4th edn) (Washington, 2000).
39. Guthrie, W., Swineford, L. B., Nottke, C. & Wetherby, A. M. Early diagnosis of autism spectrum disorder: stability and change in clinical diagnosis and symptom presentation. J. Child Psychol. Psychiatry 54, 582-590 (2013).
40. Wang, J. et al. Multi-atlas segmentation of subcortical brain structures via the AutoSeg software pipeline. Front. Neuroinform. 8, 7 (2014).
41. Shaw, P. et al. Development of cortical surface area and gyrification in attention-deficit/hyperactivity disorder. Biol. Psychiatry 72, 191-197 (2012).
42. Shaw, P. et al. Neurodevelopmental trajectories of the human cerebral cortex. J. Neurosci. 28, 3586-3594 (2008).
43. Tzourio-Mazoyer, N. et al. Automated anatomical labeling of activations in SPM using a macroscopic anatomical parcellation of the MNI MRI single-subject brain. Neuroimage 15, 273-289 (2002).
44. Kim, S. H. et al. Adaptive prior probability and spatial temporal intensity change estimation for segmentation of the one-year-old human brain. J. Neurosci. Methods 212, 43-55 (2013).
45. Gilmore, J. H. et al. Longitudinal development of cortical and subcortical gray matter from birth to 2 years. Cereb. Cortex 22, 2478-2485 (2012).
46. Chawarska, K. et al. Early generalized overgrowth in boys with autism. Arch. Gen. Psychiatry 68, 1021-1031 (2011).
47. WHO Multicentre Growth Reference Study Group. WHO Child Growth Standards: Growth Velocity based on Weight, Length and Head Circumference: Methods and Development. (WHO 2009).
48. Im, K. et al. Brain size and cortical structure in the adult human brain. Cereb. Cortex 18, 2181-2191 (2008).
49. Gilmore, J. H. et al. Regional gray matter growth, sexual dimorphism, and cerebral asymmetry in the neonatal brain. J. Neurosci. 27, 1255-1260 (2007).
50. Benjamini, Y., Krieger, A. M. & Yekutieli, D. Adaptive linear step-up procedures that control the false discovery rate. Biometricka 93, 491-507 (2006).
51. Hinton, G. E. & Salakhutdinov, R. R. Reducing the dimensionality of data with neural networks. Science 313, 504-507 (2006).