The Quantitative Nature of Autistic Social Impairment. Constantino, J N Pediatric Research, 69(5):55R–62R. ISBN: 0031-3998doi abstract bibtex Autism, like intellectual disability, represents the severe end of a continuous distribution of developmental impairments that occur in nature, that are highly inherited, and that are orthogonally related to other parameters of development. A paradigm shift in understanding the core social abnormality of autism as a quantitative trait rather than as a categorically defined condition has key implications for diagnostic classification, the measurement of change over time, the search for underlying genetic and neurobiologic mechanisms, and public health efforts to identify and support affected children. Here, a recent body of research in genetics and epidemiology is presented to examine a dimensional reconceptualization of autistic social impairment as manifested in clinical autistic syndromes, the broader autism phenotype, and normal variation in the general population. It illustrates how traditional categorical approaches to diagnosis may lead to misclassification of subjects (especially girls and mildly affected boys in multiple-incidence autism families), which can be particularly damaging to biological studies and proposes continued efforts to derive a standardized quantitative system by which to characterize this family of conditions. (Pediatr Res 69: 55R-62R, 2011)
@article{constantino_quantitative_nodate,
title = {The {Quantitative} {Nature} of {Autistic} {Social} {Impairment}},
volume = {69},
doi = {10.1203/PDR.0b013e318212ec6e},
abstract = {Autism, like intellectual disability, represents the severe end of a continuous distribution of developmental impairments that occur in nature, that are highly inherited, and that are orthogonally related to other parameters of development. A paradigm shift in understanding the core social abnormality of autism as a quantitative trait rather than as a categorically defined condition has key implications for diagnostic classification, the measurement of change over time, the search for underlying genetic and neurobiologic mechanisms, and public health efforts to identify and support affected children. Here, a recent body of research in genetics and epidemiology is presented to examine a dimensional reconceptualization of autistic social impairment as manifested in clinical autistic syndromes, the broader autism phenotype, and normal variation in the general population. It illustrates how traditional categorical approaches to diagnosis may lead to misclassification of subjects (especially girls and mildly affected boys in multiple-incidence autism families), which can be particularly damaging to biological studies and proposes continued efforts to derive a standardized quantitative system by which to characterize this family of conditions. (Pediatr Res 69: 55R-62R, 2011)},
language = {English},
number = {5},
journal = {Pediatric Research},
author = {Constantino, J N},
note = {ISBN: 0031-3998},
keywords = {CHILDREN, FAMILIES, GENERAL-POPULATION, HIRSCHSPRUNG DISEASE, LANGUAGE IMPAIRMENT, MULTIPLE-INCIDENCE, PHENOTYPE, REARRANGEMENTS, RECURRENT, SPECTRUM DISORDERS, TRAITS},
pages = {55R--62R},
}
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