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      DSM-5 and autism spectrum disorders (ASDs): an opportunity for identifying ASD subtypes

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      Author(s): 1 , 2 , , 1 , 1
      Publication date (Electronic):
      Journal: Molecular Autism
      Publisher: BioMed Central

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          Abstract

          The heterogeneous clinical presentations of individuals with autism spectrum disorders (ASDs) poses a significant challenge for sample characterization and limits the interpretability and replicability of research studies. The Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5) diagnostic criteria for ASD, with its dimensional approach, may be a useful framework to increase the homogeneity of research samples. In this review, we summarize the revisions to the diagnostic criteria for ASD, briefly highlight the literature supporting these changes, and illustrate how DSM-5 can improve sample characterization and provide opportunities for researchers to identify possible subtypes within ASD.

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          Autism from 2 to 9 years of age.

          Catherine Lord, Susan Risi, Pamela DiLavore … (2006)
          Autism represents an unusual pattern of development beginning in the infant and toddler years. To examine the stability of autism spectrum diagnoses made at ages 2 through 9 years and identify features that predicted later diagnosis. Prospective study of diagnostic classifications from standardized instruments including a parent interview (Autism Diagnostic Interview-Revised [ADI-R]), an observational scale (Pre-Linguistic Autism Diagnostic Observation Schedule/Autism Diagnostic Observation Schedule [ADOS]), and independent clinical diagnoses made at ages 2 and 9 years compared with a clinical research team's criterion standard diagnoses. Three inception cohorts: consecutive referrals for autism assessment to (1) state-funded community autism centers, (2) a private university autism clinic, and (3) case controls with developmental delay from community clinics. At 2 years of age, 192 autism referrals and 22 developmentally delayed case controls; 172 children seen at 9 years of age. Consensus best-estimate diagnoses at 9 years of age. Percentage agreement between best-estimate diagnoses at 2 and 9 years of age was 67, with a weighted kappa of 0.72. Diagnostic change was primarily accounted for by movement from pervasive developmental disorder not otherwise specified to autism. Each measure at age 2 years was strongly prognostic for autism at age 9 years, with odds ratios of 6.6 for parent interview, 6.8 for observation, and 12.8 for clinical judgment. Once verbal IQ (P = .001) was taken into account at age 2 years, the ADI-R repetitive domain (P = .02) and the ADOS social (P = .05) and repetitive domains (P = .005) significantly predicted autism at age 9 years. Diagnostic stability at age 9 years was very high for autism at age 2 years and less strong for pervasive developmental disorder not otherwise specified. Judgment of experienced clinicians, trained on standard instruments, consistently added to information available from parent interview and standardized observation.
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            Sensory processing subtypes in autism: association with adaptive behavior.

            Maureen Lane, Suzanne Young, Amy Baker … (2009)
            Children with autism are frequently observed to experience difficulties in sensory processing. This study examined specific patterns of sensory processing in 54 children with autistic disorder and their association with adaptive behavior. Model-based cluster analysis revealed three distinct sensory processing subtypes in autism. These subtypes were differentiated by taste and smell sensitivity and movement-related sensory behavior. Further, sensory processing subtypes predicted communication competence and maladaptive behavior. The findings of this study lay the foundation for the generation of more specific hypotheses regarding the mechanisms of sensory processing dysfunction in autism, and support the continued use of sensory-based interventions in the remediation of communication and behavioral difficulties in autism.
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              A multisite study of the clinical diagnosis of different autism spectrum disorders.

              Vanessa Hus, Mandy Steiman, U Peters … (2012)
              Best-estimate clinical diagnoses of specific autism spectrum disorders (autistic disorder, pervasive developmental disorder-not otherwise specified, and Asperger syndrome) have been used as the diagnostic gold standard, even when information from standardized instruments is available. To determine whether the relationships between behavioral phenotypes and clinical diagnoses of different autism spectrum disorders vary across 12 university-based sites. Multisite observational study collecting clinical phenotype data (diagnostic, developmental, and demographic) for genetic research. Classification trees were used to identify characteristics that predicted diagnosis across and within sites. Participants were recruited through 12 university-based autism service providers into a genetic study of autism. A total of 2102 probands (1814 male probands) between 4 and 18 years of age (mean [SD] age, 8.93 [3.5] years) who met autism spectrum criteria on the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule and who had a clinical diagnosis of an autism spectrum disorder. Best-estimate clinical diagnoses predicted by standardized scores from diagnostic, cognitive, and behavioral measures. Although distributions of scores on standardized measures were similar across sites, significant site differences emerged in best-estimate clinical diagnoses of specific autism spectrum disorders. Relationships between clinical diagnoses and standardized scores, particularly verbal IQ, language level, and core diagnostic features, varied across sites in weighting of information and cutoffs. Clinical distinctions among categorical diagnostic subtypes of autism spectrum disorders were not reliable even across sites with well-documented fidelity using standardized diagnostic instruments. Results support the move from existing subgroupings of autism spectrum disorders to dimensional descriptions of core features of social affect and fixated, repetitive behaviors, together with characteristics such as language level and cognitive function.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Mol Autism
                Journal ID (iso-abbrev): Mol Autism
                Title: Molecular Autism
                Publisher: BioMed Central
                ISSN (Electronic): 2040-2392
                Publication date Collection: 2013
                Publication date (Electronic): 15 May 2013
                Volume: 4
                Page: 12
                Affiliations
                [1 ]Center for Autism and the Developing Brain, Weill Cornell Medical College and New York Presbyterian Hospital/Westchester Division, NY, USA
                [2 ]Teachers College, Columbia University, NY, USA
                Article
                Publisher ID: 2040-2392-4-12
                DOI: 10.1186/2040-2392-4-12
                PMC ID: 3671160
                PubMed ID: 23675638
                SO-VID: 72cbeaaf-ff82-425b-bd04-23d6b644a8bc
                Copyright © Copyright ©2013 Grzadzinski et al.; licensee BioMed Central Ltd.
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 20 December 2012
                Date accepted : 3 May 2013
                Categories
                Subject: Review

                ScienceOpen disciplines: Neurosciences
                Data availability:
                ScienceOpen disciplines: Neurosciences

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