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Philos Trans R Soc Lond B Biol Sci. 2003 Feb 28;358(1430):303-14.

Identifying neurocognitive phenotypes in autism.

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  • 1Laboratory of Developmental Cognitive Neuroscience, Department of Anatomy and Neurobiology, Boston University School of Medicine, 715 Albany Street L-814, Boston, MA 02118, USA.


Autism is a complex disorder that is heterogeneous both in its phenotypic expression and its etiology. The search for genes associated with autism and the neurobiological mechanisms that underlie its behavioural symptoms has been hampered by this heterogeneity. Recent studies indicate that within autism, there may be distinct subgroups that can be defined based on differences in neurocognitive profiles. This paper presents evidence for two kinds of subtypes in autism that are defined on the basis of language profiles and on the basis of cognitive profiles. The implications for genetic and neurobiological studies of these subgroups are discussed, with special reference to evidence relating these cognitive phenotypes to volumetric studies of brain size and organization in autism.

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