Journal of the American Academy of Child & Adolescent Psychiatry
Volume 51, Issue 1 , Pages 28-40.e3 , January 2012

Validation of Proposed DSM-5 Criteria for Autism Spectrum Disorder

  • Thomas W. Frazier, Ph.D.

      Affiliations

    • Center for Pediatric Behavioral Health and Center for Autism, Cleveland Clinic
    • Corresponding Author InformationCorrespondence to Thomas W. Frazier, Ph.D., Center for Autism, Cleveland Clinic, 2801 Martin Luther King Jr. Drive CRS10, Cleveland, OH 44104
    • ,
  • Eric A. Youngstrom, Ph.D.

      Affiliations

    • University of North Carolina at Chapel Hill
    • ,
  • Leslie Speer, Ph.D.

      Affiliations

    • Center for Pediatric Behavioral Health and Center for Autism, Cleveland Clinic
    • ,
  • Rebecca Embacher, B.S.

      Affiliations

    • Center for Autism, Cleveland Clinic
    • ,
  • Paul Law, M.D., M.P.H.

      Affiliations

    • Kennedy Krieger Institute
    • ,
  • John Constantino, M.D.

      Affiliations

    • Washington University in St. Louis
    • ,
  • Robert L. Findling, M.D.

      Affiliations

    • Case Western Reserve University
    • ,
  • Antonio Y. Hardan, M.D.

      Affiliations

    • Stanford University, Stanford, CA
    • ,
  • Charis Eng, M.D., Ph.D.

      Affiliations

    • Genomic Medicine Institute, Taussig Cancer Institute, and Stanley Shalom Zielony Institute of Nursing Excellence, Cleveland Clinic

,Accepted 29 September 2011.

References 

  1. Geschwind DH . Advances in autism . Annu Rev Med . 2009;60:367–380
  2. Fombonne E . Epidemiology of pervasive developmental disorders . Pediatr Res . 2009;65:591–598
  3. Ganz ML . The lifetime distribution of incremental societal costs of autism . Arch Pediatr Adolesc Med . 2007;161:343–349
  4. American Psychiatric Association . Diagnostic and statistical manual of mental disorders . Fourth Edition. Text Revision . Washington, DC: American Psychiatric Association; 2000;
  5. DSM-5 Development . 299.00 Autistic Disorder . http://www.dsm5.org/ProposedRevisions/Pages/proposedrevision.aspx?rid=94 2011; Accessed February 1, 2011
  6. Tanner L . Proposed autism diagnosis changes anger “Aspies” . ABC News / Health . 2010; Accessed February 11, 2010
  7. Miller JN , Ozonoff S . The external validity of Asperger disorder: lack of evidence from the domain of neuropsychology . J Abnorm Psychol . 2000;109:227–238
  8. Constantino JN . How continua converge in nature: cognition, social competence, and autistic syndromes . J Am Acad Child Adolesc Psychiatry . 2009;48:97–98
  9. Constantino JN , Todd RD . Autistic traits in the general population: a twin study . Arch Gen Psychiatry . 2003;60:524–530
  10. Constantino JN , Lajonchere C , Lutz M , et al.  Autistic social impairment in the siblings of children with pervasive developmental disorders . Am J Psychiatry . 2006;163:294–296
  11. Piven J , Palmer P , Jacohbi D , Childress D , Arndt S . Broad autism phenotype: evidence from a family history study of multiple-incidence autism families . Am J Psychiatry . 1997;154:185–190
  12. Constantino JN , Todd RD . Intergenerational transmission of subthreshold autistic traits in the general population . Biol Psychiatry . 2005;57:655–660
  13. Ronald A , Happe F , Bolton P , et al.  Genetic heterogeneity between the three components of the autism spectrum: a twin study . J Am Acad Child Adolesc Psychiatry . 2006;45:691–699
  14. Ronald A , Simonoff E , Kuntsi J , Asherton P , Plomin R . Evidence for overlapping genetic influences on autistic and ADHD behaviours in a community twin sample . J Child Psychol Psychiatry . 2008;49:535–542
  15. Rosenberg RE , Law JK , Yenokyan G , McGready J , Kaufmann WE , Law PA . Characteristics and concordance of autism spectrum disorders among 277 twin pairs . Arch Pediatr Adolesc Med . 2009;163:907–914
  16. Ho A , Todd RD , Constantino JN . Brief report: autistic traits in twins vs. non-twins—a preliminary study . J Autism Dev Disord . 2005;35:129–133
  17. Kanner L , Rodriguez A , Ashenden B . How far can autistic children go in matters of social adaptation? . J Autism Child Schizophr . 1972;2:9–33
  18. Rutter M . The autistic child . R Inst Public Health Hyg J . 1967;30:130–132
  19. Wing JK , O'Connor N , Lotter V . Autistic conditions in early childhood: a survey in middlesex . Br Med J . 1967;3:389–392
  20. Frazier TW , Youngstrom EA , Sinclair L , et al.  Autism spectrum disorders as a qualitatively distinct category from typical behavior in a large, clinically ascertained sample . Assessment . 2010;17:308–320
  21. Ingram DG , Takahashi TN , Miles JH . Defining autism subgroups: a taxometric solution . J Autism Dev Disord . 2008;38:950–960
  22. Lord C , Risi S , DiLavore PS , Shulman C , Thurm A , Pickles A . Autism from 2 to 9 years of age . Arch Gen Psychiatry . 2008;63:694–701
  23. Van Daalen E , Kemner C , Dietz C , Swinkels SHN , Buitelaar J , Van Engeland H . Inter-rater reliability and stability of diagnoses of autism spectrum disorder in children identified through screening at a very young age . Eur Child Adolesc Psychiatry . 2009;18:663–674
  24. Mayes SD , Calhoun SL . Influence of IQ and age in childhood autism: lack of support for DSM-IV Asperger's disorder . J Dev Phys Diabilities . 2004;16:257–272
  25. Mahoney W , Szatmari P , Maclean J , et al.  Reliability and accuracy of differentiating pervasive developmental disorder subtypes . J Am Acad Child Adolesc Psychiatry . 1998;37:278–285
  26. Lubke GH , Muthen B . Investigating population heterogeneity with factor mixture models . Psychol Methods . 2005;10:21–39
  27. Muthen B , Asparouhov T , Rebollo I . Advances in behavioral genetics modeling using Mplus: applications of factor mixture modeling to twin data . Twin Res Hum Genet . 2006;9:313–324
  28. Lubke GH , Muthen B , Moilanen IK , et al.  Subtypes versus severity differences in attention-deficit/hyperactivity disorder in the Northern Finnish Birth Cohort . J Am Acad Child Adolesc Psychiatry . 2007;46:1584–1593
  29. Kraemer HC . Evaluating Medical Tests: Objective and Quantitative Guidelines . Newbury Park, CA: Sage Publications; 1992;
  30. Ruscio J , Ruscio AM . A structure-based approach to psychological assessment: matching measurement models to latent structure . Assessment . 2002;9:4–16
  31. Ruscio J , Ruscio AM . Clarifying boundary issues in psychopathology: the role of taxometrics in a comprehensive program of structural research . J Abnorm Psychol . 2004;113:24–38
  32. Amaral DG , Schumann CM , Nordahl CW . Neuroanatomy of autism . Trends Neurosci . 2008;31:137–145
  33. Pardo CA , Eberhart CG . The neurobiology of autism . Brain Pathol . 2007;17:434–447
  34. Lykken DT , McGue M , Tellegen A , Bouchard TJ . Emergenesis: genetic traits that may not run in families . Am. Psychol . 1992;47:1565–1577
  35. Haslam N . Evidence that male sexual orientation is a matter of degree . J Pers Soc Psychol . 1997;73:862–870
  36. Lenzenweger MF , McLachlan G , Rubin DB . Resolving the latent structure of schizophrenia endophenotypes using expectation-maximization-based finite mixture modeling . J Abnorm Psychol . 2007;116:16–29
  37. Haslam N . Categorical versus dimensional models of mental disorder: the taxometric evidence . Aust N Z J Psychiatry . 2003;37:696–704
  38. Cook EH , Scherer SW . Copy-number variations associated with neuropsychiatric conditions . Nature . 2008;455:919–923
  39. Gottesman II , Gould TD . The endophenotype concept in psychiatry: etymology and strategic intentions . Am J Psychiatry . 2003;160:636–645
  40. Cannon TD , Keller MC . Endophenotypes in the genetic analyses of mental disorders . Annu Rev Clin Psychol . 2006;2:267–290
  41. Abrahams BS , Geschwind DH . Advances in autism genetics: on the threshold of a new neurobiology . Nat Rev Genet . 2008;9:341–355
  42. Lee H , Marvin AR , Watson T , et al.  Accuracy of phenotyping of autistic children based on Internet implemented parent report . Am J Med Genet B Neuropsychiatr Genet . 2010;153B:1119–1126
  43. Constantino JN , Zhang Y , Frazier TW , Abbacchi AM , Law P . Sibling recurrence and the genetic epidemiology of autism . Am J Psychiatry . 2010;167:1349–1356
  44. Constantino JN , Gruber CP . Social Responsiveness Scale: Manual . Los Angeles, CA: Western Psychological Services; 2005;
  45. Rutter M , Bailey A , Lord C . The Social Communication Questionnaire Manual . Los Angeles, CA: Western Psychological Services; 2003;
  46. Lord C , Pickles A , McLennan J , et al.  Diagnosing autism: analyses of data from the Autism Diagnostic Interview . J Autism Dev Disord . 1997;27:501–517
  47. Chandler S , Charman T , Baird G , et al.  Validation of the social communication questionnaire in a population cohort of children with autism spectrum disorders . J Am Acad Child Adolesc Psychiatry . 2007;46:1324–1332
  48. Virkud YV , Todd RD , Abbacchi AM , Zhang Y , Constantino JN . Familial aggregation of quantitative autistic traits in multiplex versus simplex autism . Am J Med Genet B Neuropsychiatr Genet . 2009;150B:328–334
  49. Corsello C , Hus V , Pickles A , et al.  Between a ROC and a hard place: decision making and making decisions about using the SCQ . J Child Psychol Psychiatry . 2007;48:932–940
  50. Nasser F , Wisenbaker J . A Monte Carlo study investigating the impact of item parceling on measures of fit in confirmatory factor analysis . Educ Psychol Measure . 2003;63:729–757
  51. Lubke G , Neale M . Distinguishing between latent classes and continuous factors with categorical outcomes: class invariance of parameters of factor mixture models . Multivar Behav Res . 2006;41:499–532
  52. Lubke G , Tueller S . Latent class detection and class assignment: a comparison of the MAXEIG taxometric procedure and factor mixture modeling approaches . Struct Equat Model . 2010;17:605–628
  53. Faraone SV , Tsuang MT . Measuring diagnostic accuracy in the absence of a “gold standard” . Am J Psychiatry . 1994;151:650–657
  54. Mildenberger K , Sitter S , Noterdaeme M , Amorosa H . The use of the ADI-R as a diagnostic tool in the differential diagnosis of children with infantile autism and children with a receptive language disorder . Eur Child Adolesc Psychiatry . 2001;10:248–255
  55. Cohen J . Statistical power analysis for the behavioral sciences . 2nd edition ed.. Hillsdale, NJ: Erlbaum; 1987;
  56. Kalb LG , Law JK , Landa R , Law PA . Onset patterns prior to 36 months in autism spectrum disorders . J Autism Dev Disord . 2010;40:1389–1402
  57. Wing L , Gould J , Gillberg C . Autism spectrum disorders in the DSM-V: better or worse than the DSM-IV? . Res Dev Disabil . 2011;32:768–773
  58. Dinstein I , Pierce K , Eyler L , et al.  Disrupted neural synchronization in toddlers with autism . Neuron . 2011;70:1218–1225
  59. Sackett DL , Straus SE , Richardson WS , Rosenberg W , Haynes RB . Evidence-Based Medicine: How to Practice and Teach EBM . 2nd ed. Edinburgh: Churchill Livingstone; 2000;
  60. Sanders SJ , Ercan-Sencicek AG , Hus V , et al.  Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism . Neuron . 2011;70:863–885
  61. Wang K , Zhang H , Ma D , et al.  Common genetic variants on 5p14.1 associate with autism spectrum disorders . Nature . 2009;459:528–533
  62. Gregory SG , Connelly JJ , Towers AJ , et al.  Genomic and epigenetic evidence for oxytocin receptor deficiency in autism . BMC Med . 2009;7:62
  63. Moss J , Magiati I , Charman T , Howlin P . Stability of the Autism Diagnostic Interview—Revised from pre-school to elementary school age in children with autism spectrum disorders . J Autism Dev Disord . 2008;38:1081–1091
  64. Pinto-Martin JA , Young LM , Mandell DS , Poghosyan L , Giarelli E , Levy SE . Screening strategies for autism spectrum disorders in pediatric primary care . J Dev Behav Pediatr . 2008;29:345–350

 This publication was made possible by the Case Western Reserve University/Cleveland Clinic Clinical and Translational Grant Number UL1 RR024989 from the National Center for Research Resources. Autism Speaks provided support for the Interactive Autism Network project and Dr. Law. Funding from the National Institute of Child Health and Human Development Grant Number HD42541 supported Dr. Constantino's involvement. Dr. Eng is a Doris Duke Distinguished Clinical Scientist and holds the Sondra J. and Stephen R. Hardis Chair of Cancer Genomic Medicine at the Cleveland Clinic.

 Dr. Law designed and maintains the Interactive Autism Network registry. Drs. Frazier, Youngstrom, and Eng designed the present study. Dr. Frazier obtained funding to support analyses. Drs. Frazier, Youngstrom, Speer, Constantino, Findling, and Hardan, and Ms. Embacher supervised data interpretation of the study. Drs. Frazier and Ms. Embacher conducted data management and data analyses. All authors contributed to writing and revision.

 The authors gratefully acknowledge the efforts of families contributing to the Interactive Autism Network. Drs. Frazier and Youngstrom served as the statistical experts.

 Disclosure: Dr. Frazier has received federal funding or research support from, acted as a consultant to, or received travel support from Shire Development, Inc., Bristol-Myers Squibb, Integragen, the National Institutes of Health (NIH), and the Brain and Behavior Research Foundation. Dr. Youngstrom has received travel support from Bristol-Myers Squibb. Dr. Findling receives or has received research support, acted as a consultant to and/or served on a speakers' bureau for Abbott, Addrenex, AstraZeneca, Biovail, Bristol-Myers Squibb, Forest, GlaxoSmithKline, Johnson and Johnson, KemPharm, Eli Lilly and Co., Lundbeck, Merck, Neuropharm, Novartis, Noven, Organon, Otsuka, Pfizer, Rhodes Pharmaceuticals, Sanofi-Aventis, Schering-Plough, Seaside Therapeutics, Sepracore, Shire, Solvay, Sunovion, Supernus Pharmaceuticals, Transcept, Validus, and Wyeth. Dr. Constantino receives grant or research support from NIH, National Institute of Child Health and Human Development, the National Institute of Mental Health, the Department of Health and Human Services, Autism Speaks, and the Centers for Disease Control and Prevention. He receives royalties from Western Psychological Services for the commercial distribution of the Social Responsiveness Scale, one of the metrics used in this study; no royalties were generated by any of the assessments performed in the present research. Drs. Law, Speer, Eng, and Hardan, and Ms. Embacher report no biomedical financial interests or potential conflicts of interest.

 This article is discussed in an editorial by Dr. Bennett L. Leventhal on page 6.

 Supplemental material cited in this article is available online.

PII: S0890-8567(11)00890-2

doi: 10.1016/j.jaac.2011.09.021

Journal of the American Academy of Child & Adolescent Psychiatry
Volume 51, Issue 1 , Pages 28-40.e3 , January 2012

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