Journal of Autism and Developmental Disorders

, Volume 35, Issue 2, pp 221–234 | Cite as

Three Diagnostic Approaches to Asperger Syndrome: Implications for Research

  • Ami KlinEmail author
  • David Pauls
  • Robert Schultz
  • Fred Volkmar

Objective: To examine the implications for research of the use of three alternative definitions for Asperger syndrome (AS). Differences across the three nosologic systems were examined in terms of diagnostic assignment, IQ profiles, comorbid symptoms, and familial aggregation of social and other psychiatric symptoms. Method: Standard data on diagnosis, intellectual functioning, comorbidity patterns, and family history were obtained on 65 individuals screened for a very high probability of having autism without mental retardation (or higher functioning autism, HFA) or AS. Diagnoses of AS were established based on three different approaches: DSM-IV, presence/absence of communicative phrase speech by 3 years, and a system designed to highlight prototypical features of AS. Results: Agreement between the three diagnostic systems was poor. AS could be differentiated from HFA (but not from PDD-NOS) on the basis of IQ profiles in two of the three systems. Differences in patterns of comorbid symptomatology were obtained in two of the three systems, although differences were primarily driven by the PDD-NOS category. Only one of the approaches yielded differences relative to aggregation of the “broader phenotype” in family members. Conclusions: Diagnostic assignments of AS based on three commonly used approaches have low agreement and lead to different results in comparisons of IQ profiles, patterns of comorbidity, and familial aggregation of psychiatric symptoms across the approach-specific resultant groups of HFA, AS, and PDD-NOS.


Asperger syndrome autism diagnosis 


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  1. American Psychiatric Association1994Diagnostic and statistical manual of mental disorders (4th ed.). (DSM-IV)American Psychiatric AssociationWashington, DCGoogle Scholar
  2. American Psychiatric Association2000Diagnostic and statistical manual of mental disorders (4th ed.), Text Revision (DSM-IV-TR)American Psychiatric AssociationWashington, DCGoogle Scholar
  3. Asperger, H. 1944Die ‘Autistischen Psychopathen’ im KindesalterArchiv für Psychiatrie und Nervenkrankheiten11776136Google Scholar
  4. Bailey, A., Palferman, S., Heavey, L., Le Couteur, A. 1998Autism: the phenotype in relativesJournal of Autism and Developed Disorders28369392Google Scholar
  5. Bailey, A., Phillips, W., Rutter, M. 1996Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectivesJournal of Child Psychology and Psychiatry and Allied Disciplines3789126Google Scholar
  6. Bolton, P.F., Pickles, A., Murphy, M., Rutter, M. 1998Autism, affective and other psychiatric disorders: patterns of familial aggregationPsychological Medicine28385395Google Scholar
  7. Bosch, G. 1970Infantile autismSpringer-VerlagNew York, NYGoogle Scholar
  8. Bowman, E.P. 1988Asperger’s syndrome and autism: the case for a connectionBritish Journal of Psychiatry152377382Google Scholar
  9. Cicchetti, D.V., Sparrow, S.S. 1981Development of criteria for establishing the Interrater reliability of specific items in a given inventory: applications to assessment of adaptive behaviorAmerican Journal of Mental Deficiency86127137Google Scholar
  10. Clarke, D.J., LittleJohns, C.S., Corbett, J.A., Joseph, S. 1989Pervasive developmental disorders and psychoses in adult lifeBritish Journal of Psychiatry155692669Google Scholar
  11. DeLong, G.R., Dwyer, J.T. 1988Correlation of family history with specific autistic subgroups: Asperger’s syndrome and bipolar affective diseaseJournal of Autism Development Disorders18593600Google Scholar
  12. Ehlers, S., Nyden, A., Gillberg, C., Dahlgren Sandberg, A. 1997Asperger syndrome, autism and attention disorders: a comparative study of the cognitive profiles of 120 childrenJournal of Child Psychology and Psychiatry and Allied Disciplines38207217Google Scholar
  13. Eisenmajer, R., Prior, M., Leekam, S., Wing, L., Gould, J., Welham, M., Ong, B. 1996Comparison of clinical symptoms in autism and Asperger’s disorderJournal of American Academy Child and Adolescent Psychiatry3515231531Google Scholar
  14. First, M.B., Spitzer, R.L., Gibbon, M., Williams, J.B.W. 1996Structured clinical interview for DSM-IV Axis I Disorders (Version 2.0)Biomedical Research Department, New York State Psychiatric InstituteNew York NYGoogle Scholar
  15. Fletcher, J.M. 1985External validation of learning disability typologiesRourke, P.B. eds. Neuropsychology of learning disabilities: essentials of subtype analysis.Guilford PressNew York, NY187211Google Scholar
  16. Folstein, S.E., Santangelo, S.L. 2000Does Asperger syndrome aggregate in familiesKlin, A.Volkmar, F.R.Sparrow, S.S. eds. Asperger syndromeGuilford PressNew York, NY159171Google Scholar
  17. Fombonne, E. 1999The epidemiology of autism: a reviewPsychological Medicine29769786Google Scholar
  18. Ghaziuddin, M., Tsai, L.Y., Ghaziuddin, N. 1992Brief report: A comparison of the diagnostic criteria for Asperger SyndromeJournal of Autism Development Disorders22643649Google Scholar
  19. Ghaziuddin, M., Tsai, L., Ghaziuddin, N. 1992Comorbidity of autistic disorder in children and adolescentsEuropean Child & Adolescent Psychiatry1209213Google Scholar
  20. Gilchrist, A., Green, J., Cox, A., Burton, D., Rutter, M., Le Couteur, A. 2001Development and current functioning in adolescents with Asperger syndrome: a comparative studyJournal Child Psychology Psychiatry and Aillied Disciplines42227240Google Scholar
  21. Gillberg, C. 1998Asperger syndrome and high-functioning autismBritish Journal of Psychiatry172200209Google Scholar
  22. Gillberg, C., Gillberg, I.C., Rastam, M., Wentz, E. 2001The Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI): a preliminary study of a new structured clinical interviewAutism55766Google Scholar
  23. Gillberg, C., Gillberg, I.C., Steffenburg, S. 1992Siblings and parents of children with autism: A controlled population-based studyDevelopmental Medicine and Child Neurology34389398Google Scholar
  24. Green, J., Gilchrist, A., Burton, D., Cox, A. 2000Social and psychiatric functioning in adolescents with Asperger syndrome compared with conduct disorderJournal of Autism Development Disorders30279293Google Scholar
  25. Gura, T. 1999Gene defect linked to Rett syndromeScience28627Google Scholar
  26. Hippler, K., Klicpera, C. 2003A retrospective analysis of the clinical case records of ‘autistic psychopaths’ diagnosed by Hans Asperger and his team at the University Children’s Hospital, ViennaPhilosophical Transactions of the Royal Society of London358291301Google Scholar
  27. Howlin, P. 2000Outcome in adult life for more able individuals with autism or Asperger syndromeAutism46383CrossRefGoogle Scholar
  28. Kanner, L. 1943Autistic disturbances of affective contactNervous Child2217253Google Scholar
  29. Kerbeshian, J., Burd, L. 1986Asperger’s syndrome and Tourette syndrome: The case of the pinball wizardBritish Journal of Psychiatry1487316Google Scholar
  30. Kim, J., Szatmari, P., Bryson, S., Streiner, D.L., Wilson, F.J. 2000The prevalence of anxiety and mood problems among children with autism and Asperger syndromeAutism4117132Google Scholar
  31. Klin, A., Carter, A., Volkmar, W.D., Cohen, F.R., Marans, D.J., Sparrow, S.S. 1997Assessment issues in children with autismCohen, D.J.Volkmar, F.R. eds. Handbook of Autism and Pervasive Developmental Disorders, (2nd ed.)WileyNew York, NY411418Google Scholar
  32. Klin, A., Sparrow, S.S., Marans, W.D, Carter, A., Volkmar, F.R. 2000Assessment issues in children and adolescents with Asperger syndromeKlin, A.Volkmar, F.R.Sparrow, S.S. eds. Asperger syndromeGuilford PressNew York, NY309339Google Scholar
  33. Klin, A., Volkmar, F.R. 1996The pervasive developmental disorders: Nosology and profiles of developmentLuthar, S.Burack, J.Cicchetti, D.Wiesz, J. eds. Developmental Perspectives on Risk and Psychopathology.Cambridge University PressNew York, NY208226Google Scholar
  34. Klin, A., Volkmar, F.R. 1997Asperger SyndromeCohen, D.J.Volkmar, F.R. eds. Handbook of Autism and Pervasive Developmental DisordersWiley & SonsNew York, NY94122Google Scholar
  35. Klin, A., Volkmar, F.R., Sparrow, S.S., Cicchetti, D.V., Rourke, B.P. 1995Validity and neuropsychological characterization of Asperger syndromeJournal of Child Psychology Psychiatry and Allied Disciplines3611271140Google Scholar
  36. Klin, A.Volkmar, F.R.Sparrow, S.S. eds. 2000Asperger syndromeGuilford PressNew YorkGoogle Scholar
  37. Landa, R. 2000Social language use in Asperger syndrome and high-functioning autismKlin, A.Volkmar, F.R.Sparrow, S.S. eds. Asperger syndrome.Guilford PressNew York, NY125155Google Scholar
  38. Leckman, J.F., Sholomskas, D., Thompson, W.D. 1982Best estimate of lifetime psychiatric diagnosis: A methodological studyArchives of General Psychiatry32879883Google Scholar
  39. Leekam, S., Libby, S., Wing, L., Gould, J., Gillberg, C. 2000Comparison of ICD-10 and Gillberg’s criteria for Asperger syndromeAutism41128Google Scholar
  40. Lincoln, A., Courchesne, E., Allen, M., Hanson, E., Ene, M. 1998Neurobiology of Asperger Syndrome: seven case studies and quantitative magnetic resonance imaging findingsSchopler, E.Mesibov, G.Kunce, L.J. eds. Asperger syndrome or High-Functioning Autism?PlenumNew York145166Google Scholar
  41. Lincoln, A.J., Allen, M., Kilman, A. 1995The assessment and interpretation of intellectual abilities in people with autismSchopler, E.Mesibov, G. eds. Learning and Cognition in Autism.PlenumNew York, NY89117Google Scholar
  42. Lord, C., Rutter, M. & DiLavore, P.(1996). Autism diagnostic observation schedule – Generic (ADOS-G). Unpublished manuscript. University of Chicago, Chicago, Illinois.Google Scholar
  43. Lord, C., Rutter, M., LeCouteur, A. 1994Autism Diagnostic Interview–Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disordersJournal of Autism and Developed Disorders24659685Google Scholar
  44. Martin, A., Patzer, D.K., Volkmar, F.R. 2000Psychopharmacological treatment of higher-functioning pervasive developmental disordersKlin, A.Volkmar, F.R.Sparrow, S.S. eds. Asperger Syndrome.Guilford PressNew York210230Google Scholar
  45. Mayes, S.D., Calhoun, S.L., Crites, D.L. 2001Does DSM-IV Asperger’s disorder exist?Journal Abnorm Child Psychology29263271Google Scholar
  46. Miller, J.N., Ozonoff, S. 1997Did Asperger’s cases have Asperger Disorder?Journal of Child Psychology and Psychiatry38247251Google Scholar
  47. Miller, J., Ozonoff, S. 2000The external validity of Asperger disorder: lack of evidence from the domain of neuropsychologyJournal of Abnorm Psychology109227238Google Scholar
  48. Murphy, M., Bolton, P.F., Pickles, A., Fombonne, E., Piven, J., Rutter, M 2000Personality traits of the relatives of autistic probandsPsychological Medicine3014111424Google Scholar
  49. Orvaschel, H., Puig-Antich, J. 1987Schedule for Affective Disorders and Schizophrenia for School-Age Children (K-SADS). (4th ed)Western Psychiatric Institute and ClinicPittsburgh, PAGoogle Scholar
  50. Ozonoff, S. 2000Neuropsychological function and the external validity of Asperger syndromeKlin, A.Volkmar, F.R.Sparrow, S.S. eds. Asperger syndrome.Guilford PressNew York, NY7296Google Scholar
  51. Ozonoff, S., Rogers, S., Pennington, B. 1991Asperger’s syndrome: evidence of an empirical distinctionJournal of Child Psychology and Psychiatry3211071122Google Scholar
  52. Piven, J., Chase, G.A., Landa, R., Wzorek, M., Gayle, J., Cloud, D., Folstein, S. 1991Psychiatric disorders in the parents of autistic individualsJournal of American Academy Child and Adolescent Psychiatry30471478Google Scholar
  53. Piven, J., Palmer, P. 1999Psychiatric disorder and the broad autism phenotype: evidence from a family study of multiple-incidence autism familiesAmerican Journal of Psychiatry156557563Google Scholar
  54. Piven, J., Palmer, P., Jacobi, D., Childress, D., Arndt, S. 1997The broader autism phenotype: evidence from a family study of multiple-incidence autism familiesAmerican Journal of Psychiatry154185190Google Scholar
  55. Prior, M., Eisenmajer, R., Leekam, S., Wing, L., Gould, J., Ong, B., Dowe, D. 1998Are there subgroups within the autistic spectrum? A cluster analysis of a group of children with autistic spectrum disordersJournal of Child Psychology and Psychiatry39893902Google Scholar
  56. Rourke, B. 1989Nonverbal learning disabilities: The syndrome and the modelGuilford PressNew York, NYGoogle Scholar
  57. Rutter, M. 1999The Emanuel Miller Memorial Lecture 1998Autism: two-way interplay between research and clinical work. Journal of Child Psychology and Psychiatry40169188Google Scholar
  58. Rutter, M. 2000Genetic studies of autism: from the 1970s into the millenniumJournel of Child Psychology and Psychiatry28314Google Scholar
  59. Smalley, S.L., McCracken, J., Tanguay, P. 1995Autism, affective disorders and social phobiaAmerican Journal of Medical Genetics601926Google Scholar
  60. Sparrow, S., Balla, D., Cicchetti, D. 1984Vineland Adaptive Behavior Scales, Expanded EditionAmerican Guidance ServiceCircle Pines, MNGoogle Scholar
  61. Szatmari, P., Archer, L., Fisman, S., Streiner, D.L., Wilson, F. 1995Asperger’s syndrome and autism: differences in behavior, cognition, and adaptive functioningJournal of American Academy Child and Adolescent Psychiatry3416621671Google Scholar
  62. Szatmari, P., Bryson, S.E., Streiner, D.L., Wilson, F., Archer, L., Ryerse, C. 2000Two-year outcome of preschool children with autism or Asperger’s syndromeAmerican Journal of Psychiatry15719801987Google Scholar
  63. Szatmary, P 2000Perspectives on the classification of Asperger syndromeKlin, A.Volkmar, F.R.Sparrow, S.S. eds. Asperger syndrome.Guilford PressNew York403417Google Scholar
  64. Tantam, D. 1988Annotation: Asperger’s syndromeJournal of Child Psychology and Psychiatry29245255Google Scholar
  65. Thomsen, P.H. 1994Obsessive-compulsive disorder in children and adolescents: A 6–22-year follow-up study: Clinical descriptions of the course and continuity of obsessive-compulsive symptomatologyEuropean Child Adolescent Psychiatry38296Google Scholar
  66. Van Krevelen, D.A. 1971Early infantile autism and autistic psychopathyJournal autism and Child Schizophrenia18286Google Scholar
  67. Volkmar, F.R., Klin, A. 2002Diagnostic issues in Asperger syndromeKlin, A.Volkmar, F.R.Sparrow, S.S. eds. Asperger syndromeGuilford PressNew York, NY2571Google Scholar
  68. Volkmar, F.R., Klin, A., Cohen, D.J. 1997Diagnosis and Classificiation of autism and related conditions: Consensus and IssuesCohen, D.J.Volkmar, F.R. eds. Handbook of Autism and Pervasive Developmental Disorders.WileyNew York, NY540Google Scholar
  69. Volkmar, F.R., Klin, A., Pauls, D. 1998Nosological and genetic aspects of Asperger SyndromeJournal of Autism Development Disorders28457463Google Scholar
  70. Volkmar, F.R., Klin, A., Siegel, B., Szatmari, P., Lord, C., Campbell, M., Freeman, B.J., Cicchetti, D.V., Rutter, M., Kline, W., Buitelaar, J., Hattab, Y., Fombonne, E., Fuentes, J., Werry, J., Stone, W., Kerbeshian, J., Hoshino, Y., Bregman, J., Loveland, K., Szymanski, L., Towbin, K. 1994DSM-IV Autism/Pervasive Developmental Disorder Field TrialAmerican Journal of Psychiatry15113611367Google Scholar
  71. Wechsler, D. 1992Manual for the Wechsler Intelligence Scale for Children, (3rd ed.)The Psychological CorporationSan Antonio, TXGoogle Scholar
  72. Wechsler, D. 1997Manual for the Wechsler Adult Intelligence Scale, (3rd ed.)The Psychological CorporationSan AntonioGoogle Scholar
  73. Wing, L. 1981Asperger’s syndrome: a clinical accountPsychological Medicine11115129Google Scholar
  74. Wing, L. 1986Clarification on Asperger’s Syndrome (Letters to the Editor)Journal of Autism Development Disorder16513515Google Scholar
  75. World Health Organization1992The ICD-10 Classification of Mental and Behavioral DisordersWorld Health OrganizationGenevaGoogle Scholar

Copyright information

© Springer Science+Business Media, Inc. 2005

Authors and Affiliations

  • Ami Klin
    • 1
    Email author
  • David Pauls
    • 1
  • Robert Schultz
    • 1
  • Fred Volkmar
    • 1
  1. 1.Yale child Study CenterUSA

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