Autism spectrum disorder

Autism spectrum disorder is a construct used to describe individuals with a specific combination of impairments in social communication and repetitive behaviours, highly restricted interests and/or sensory behaviours beginning early in life. The worldwide prevalence of autism is just under 1%, but estimates are higher in high-income countries. Although gross brain pathology is not characteristic of autism, subtle anatomical and functional differences have been observed in post-mortem, neuroimaging and electrophysiological studies. Initially, it was hoped that accurate measurement of behavioural phenotypes would lead to specific genetic subtypes, but genetic findings have mainly applied to heterogeneous groups that are not specific to autism. Psychosocial interventions in children can improve specific behaviours, such as joint attention, language and social engagement, that may affect further development and could reduce symptom severity. However, further research is necessary to identify the long-term needs of people with autism, and treatments and the mechanisms behind them that could result in improved independence and quality of life over time. Families are often the major source of support for people with autism throughout much of life and need to be considered, along with the perspectives of autistic individuals, in both research and practice.

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Acknowledgements

The authors thank J. McCauley, S. Gaspar, K. Byrne and A. Holbrook from UCLA for help with manuscript preparation. S. Tromans is thanked for his updated review of the epidemiology literature. We recognize the many investigators who contributed research that we cannot cite due to space limitations. C.L. is supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHHD; R01 HD081199), the National Institute of Mental Health (NIMH; R01MH081873-01A1) and the Simons Foundation. T.S.B. is supported by grants from the Health and Social Care Information Centre, Leeds, and the National Institute for Health Research (NIHR HTA; grant ref. NIHR127337). T.C. is supported by grants from Innovative Medicines Initiative 2 (no. 777394), the Medical Research Council (MRC; grants MR/K021389/1) and the NIHR (grant 13/119/18). J.C. is funded by Autistica. G.D. is supported by the Institut Pasteur. T.F. is supported by the Autism Speaks Foundation. E.J.H.J. is supported by grants from the Economic and Social Research Council (ESRC; ES/R009368/1), the Innovative Medicines Initiative 2 (no. 777394), the MRC (MR/K021389/1) and the Simons Foundation (609081). R.M.J. acknowledges the Mortimer D. Sackler Family and the NIMH (R01MH114999). J.L.T. is supported by grants from the FAR fund and the NIMH (R34 MH104428, R03 MH 112783 and R01 MH116058). A.P. is partially supported by the Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King’s College London and the NIHR (NF-SI-0617-10120). M.W.S. is supported by the National Institutes of Health (NIH; MH106934, MH109901, MH110928, MH116487 MH102342, MH111662, MH105575 and MH115747), the Overlook International Foundation and the Simons Foundation. J.V.-V. is supported by the NIH (MH016434 and MH094604), the Simons Foundation and the New York State Psychiatric Institute. The views expressed are those of the authors and not necessarily those of the NHS, the NIHR, or the Department of Health and Social Care.

Author information

Authors and Affiliations

  1. Departments of Psychiatry and School of Education, University of California, Los Angeles, Los Angeles, CA, USA Catherine Lord
  2. Department of Health Sciences, University of Leicester, Leicester, UK Traolach S. Brugha
  3. Institute of Psychiatry, Psychology & Neuroscience, King’s College London, London, UK Tony Charman & Andrew Pickles
  4. Autistica, London, UK James Cusack
  5. Institut Pasteur, UMR3571 CNRS, Université de Paris, Paris, France Guillaume Dumas
  6. Autism Speaks, New York, NY, USA Thomas Frazier
  7. Centre for Brain & Cognitive Development, University of London, London, UK Emily J. H. Jones
  8. The Sackler Institute for Developmental Psychobiology, New York, NY, USA Rebecca M. Jones
  9. The Center for Autism and the Developing Brain, White Plains, NY, USA Rebecca M. Jones
  10. Department of Psychiatry, Langley Porter Psychiatric Institute and Weill Institute for Neurosciences, University of California, San Francisco, CA, USA Matthew W. State
  11. Department of Pediatrics and Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN, USA Julie Lounds Taylor
  12. Department of Psychiatry, Columbia University, New York, NY, USA Jeremy Veenstra-VanderWeele
  1. Catherine Lord