Notes on Rutter (2012) Autism - current findings, directions - J Autism Dev Disord(2013 43:17491757 DOI 10.1007\/s10803-012-1713-7 ORIGINAL PAPER

Notes on Rutter (2012) Autism - current findings,...

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ORIGINAL PAPERChanging Concepts and Findings on AutismMichael RutterPublished online: 29 November 2012ÓSpringer Science+Business Media New York 2012AbstractNewresearchfindingsprovidemajorchal-lenges regarding our understanding of the concept of aut-ism. These are critically discussed in relation to researchrelevanttoclassification,genetics,environmentalriskfactors, gene-environment interplay, animal models, bio-markers, clinical features, neuropathology, pharmacother-apy, behavioral treatments, and functioning in adult life. Itis concluded that, although there have been major researchadvances; there is a need for a reconceptualization and anavoidance of claims that go beyond the evidence.KeywordsPhenotypic overlap among disordersÁGeneticoverlapÁFractionable autism triadÁBroader autismphenotypeÁRett syndromeÁEpilepsyIntroductionDuring the last few years there has been a virtual revolutionin the understanding of the concept of autism and itsimplications for both research and clinical practice (seeRutter2011a,b,cfor a summary of the state of play ear-lier). Research up to the turn of the century had led to anacceptance that autism constituted a genetically influencedneurodevelopmental disorder and not a psychogenicallydetermined unusually early onset variety of schizophrenia(Rapin2011; Rutter2011a). Psychoanalytic psychotherapyhad come to be replaced by developmentally informedbehavioral treatments.During thefirst decade of thiscentury, new scientific findings showed the importance ofcopy number variations (submicroscopic deletions or sub-stitutions of DNA segments); provided an animal model ofRett syndrome; showed the increasing brain size in thepreschool years; and indicated the reality of a broaderphenotype of autism—to mention just a few examples.Geschwind’s (2011) thoughtful critique of autism geneticsandgenomics,whilstraisingincisivequestions,drewattention to the gains from recent research. This paper, too,provides a mixture of achievements and queries, but anexamination of classification issues, the first topic to bediscussed, highlights that research findings raise majorchallenges to prevailing concepts of autism.ClassificationAt the time of writing, both the major psychiatric classifi-cations—namely the American Psychiatric Association’s(2000) DSM-IV and the World Health Organization’s(1992) ICD-10 are in the course of substantial revision,giving rise to DSM-5 and ICD-11. Traditionally, autism hasbeen used as a distinct categorical designation diagnosis thatis separate from all others and is meaningfully different inways that matter. Several classification issues and changeshave strongly challenged that view. First, there is a sub-stantialoverlapamongautism,intellectualdisability,Attentiondeficitdisorderwithhyperactivity(ADHD),schizophrenia (Sprong et al.2007), and conduct disorder(Happe´ and Frith1996). In the past, the official classifica-tions have not allowed both autism and ADHD to be diag-nosed and that will have to change. Of course, there is
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