The autistic spectrum

Handb Clin Neurol. 2013;111:263-71. doi: 10.1016/B978-0-444-52891-9.00029-4.


The autistic spectrum currently encompasses common precocious behaviourally identified constellations of social and communication atypicalities associated with restricted interests and repetitive behavior, together with uneven ability profiles. It is associated with multiple but heterogeneous genetic, functional, and structural variations whose established links with an autistic behavioral phenotype are as yet minimal. Strong evidence of high heritability contrasts with limited determination of genes and modes of transmission involved. Adaptation and outcomes vary widely according to opportunities, accommodation, and co-occurring conditions. With current diagnostic practices, multiple genetic conditions overlap with the autistic spectrum, with potential for confusion arising from phenocopies. Recent advances question the often presumed association between autism and intellectual disability and/or epilepsy. Autism is currently understood as a final common phenotypical pathway resulting from an indefinite number of genetic variations, possibly involving the same information processing pathways, and producing a variant in the way humans perceive, memorize, manipulate, and attribute emotional value to available information. Findings plausibly converge on more optional, rather than typically mandatory, hierarchies of information processing as fundamental to autism. Adaptation of education and employment according to individual strengths and needs, as well as attention to co-occurring conditions as necessary, remains today the best way to assist autistic individuals.

Publication types

  • Review

MeSH terms

  • Child Development Disorders, Pervasive / diagnosis
  • Child Development Disorders, Pervasive / epidemiology*
  • Child Development Disorders, Pervasive / genetics*
  • Child Development Disorders, Pervasive / therapy
  • Humans
  • Nervous System Diseases / complications
  • Phenotype