Three Diagnostic Approaches to Asperger Syndrome: Implications for Research Article DOI:
Cite this article as: Klin, A., Pauls, D., Schultz, R. et al. J Autism Dev Disord (2005) 35: 221. doi:10.1007/s10803-004-2001-y 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. Keywords Asperger syndrome autism diagnosis References American Psychiatric Association 1994Diagnostic and statistical manual of mental disorders (4th ed.). (DSM-IV) American Psychiatric Association Washington, DC Google Scholar American Psychiatric Association 2000Diagnostic and statistical manual of mental disorders (4th ed.), Text Revision (DSM-IV-TR) American Psychiatric Association Washington, DC Google Scholar Asperger, H. 1944 Die ‘Autistischen Psychopathen’ im Kindesalter Archiv für Psychiatrie und Nervenkrankheiten 117 76 136 Google Scholar Bailey, A., Palferman, S., Heavey, L., Le Couteur, A. 1998 Autism: the phenotype in relatives Journal of Autism and Developed Disorders 28 369 392 Google Scholar Bailey, A., Phillips, W., Rutter, M. 1996 Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives Journal of Child Psychology and Psychiatry and Allied Disciplines 37 89 126 Google Scholar Bolton, P.F., Pickles, A., Murphy, M., Rutter, M. 1998 Autism, affective and other psychiatric disorders: patterns of familial aggregation Psychological Medicine 28 385 395 Google Scholar Bosch, G. 1970Infantile autism Springer-Verlag New York, NY Google Scholar Bowman, E.P. 1988 Asperger’s syndrome and autism: the case for a connection British Journal of Psychiatry 152 377 382 Google Scholar Cicchetti, D.V., Sparrow, S.S. 1981 Development of criteria for establishing the Interrater reliability of specific items in a given inventory: applications to assessment of adaptive behavior American Journal of Mental Deficiency 86 127 137 Google Scholar Clarke, D.J., LittleJohns, C.S., Corbett, J.A., Joseph, S. 1989 Pervasive developmental disorders and psychoses in adult life British Journal of Psychiatry 155 692 669 Google Scholar DeLong, G.R., Dwyer, J.T. 1988 Correlation of family history with specific autistic subgroups: Asperger’s syndrome and bipolar affective disease Journal of Autism Development Disorders 18 593 600 Google Scholar Ehlers, S., Nyden, A., Gillberg, C., Dahlgren Sandberg, A. 1997 Asperger syndrome, autism and attention disorders: a comparative study of the cognitive profiles of 120 children Journal of Child Psychology and Psychiatry and Allied Disciplines 38 207 217 Google Scholar Eisenmajer, R., Prior, M., Leekam, S., Wing, L., Gould, J., Welham, M., Ong, B. 1996 Comparison of clinical symptoms in autism and Asperger’s disorder Journal of American Academy Child and Adolescent Psychiatry 35 1523 1531 Google Scholar 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 Institute New York NY Google Scholar Fletcher, J.M. 1985 External validation of learning disability typologies Rourke, P.B. eds. Neuropsychology of learning disabilities: essentials of subtype analysis. Guilford Press New York, NY 187 211 Google Scholar Folstein, S.E., Santangelo, S.L. 2000 Does Asperger syndrome aggregate in families Klin, A. Volkmar, F.R. Sparrow, S.S. eds. Asperger syndrome Guilford Press New York, NY 159 171 Google Scholar Fombonne, E. 1999 The epidemiology of autism: a review Psychological Medicine 29 769 786 Google Scholar Ghaziuddin, M., Tsai, L.Y., Ghaziuddin, N. 1992 Brief report: A comparison of the diagnostic criteria for Asperger Syndrome Journal of Autism Development Disorders 22 643 649 Google Scholar Ghaziuddin, M., Tsai, L., Ghaziuddin, N. 1992 Comorbidity of autistic disorder in children and adolescents European Child & Adolescent Psychiatry 1 209 213 Google Scholar Gilchrist, A., Green, J., Cox, A., Burton, D., Rutter, M., Le Couteur, A. 2001 Development and current functioning in adolescents with Asperger syndrome: a comparative study Journal Child Psychology Psychiatry and Aillied Disciplines 42 227 240 Google Scholar Gillberg, C. 1998 Asperger syndrome and high-functioning autism British Journal of Psychiatry 172 200 209 Google Scholar Gillberg, C., Gillberg, I.C., Rastam, M., Wentz, E. 2001 The Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI): a preliminary study of a new structured clinical interview Autism 5 57 66 Google Scholar Gillberg, C., Gillberg, I.C., Steffenburg, S. 1992 Siblings and parents of children with autism: A controlled population-based study Developmental Medicine and Child Neurology 34 389 398 Google Scholar Green, J., Gilchrist, A., Burton, D., Cox, A. 2000 Social and psychiatric functioning in adolescents with Asperger syndrome compared with conduct disorder Journal of Autism Development Disorders 30 279 293 Google Scholar Gura, T. 1999 Gene defect linked to Rett syndrome Science 286 27 Google Scholar Hippler, K., Klicpera, C. 2003 A retrospective analysis of the clinical case records of ‘autistic psychopaths’ diagnosed by Hans Asperger and his team at the University Children’s Hospital, Vienna Philosophical Transactions of the Royal Society of London 358 291 301 Google Scholar Howlin, P. 2000 Outcome in adult life for more able individuals with autism or Asperger syndrome Autism 4 63 83 CrossRef Google Scholar Kanner, L. 1943 Autistic disturbances of affective contact Nervous Child 2 217 253 Google Scholar Kerbeshian, J., Burd, L. 1986 Asperger’s syndrome and Tourette syndrome: The case of the pinball wizard British Journal of Psychiatry 148 731 6 Google Scholar Kim, J., Szatmari, P., Bryson, S., Streiner, D.L., Wilson, F.J. 2000 The prevalence of anxiety and mood problems among children with autism and Asperger syndrome Autism 4 117 132 Google Scholar Klin, A., Carter, A., Volkmar, W.D., Cohen, F.R., Marans, D.J., Sparrow, S.S. 1997 Assessment issues in children with autism Cohen, D.J. Volkmar, F.R. eds. Handbook of Autism and Pervasive Developmental Disorders, (2nd ed.) Wiley New York, NY 411 418 Google Scholar Klin, A., Sparrow, S.S., Marans, W.D, Carter, A., Volkmar, F.R. 2000 Assessment issues in children and adolescents with Asperger syndrome Klin, A. Volkmar, F.R. Sparrow, S.S. eds. Asperger syndrome Guilford Press New York, NY 309 339 Google Scholar Klin, A., Volkmar, F.R. 1996 The pervasive developmental disorders: Nosology and profiles of development Luthar, S. Burack, J. Cicchetti, D. Wiesz, J. eds. Developmental Perspectives on Risk and Psychopathology. Cambridge University Press New York, NY 208 226 Google Scholar Klin, A., Volkmar, F.R. 1997 Asperger Syndrome Cohen, D.J. Volkmar, F.R. eds. Handbook of Autism and Pervasive Developmental Disorders Wiley & Sons New York, NY 94 122 Google Scholar Klin, A., Volkmar, F.R., Sparrow, S.S., Cicchetti, D.V., Rourke, B.P. 1995 Validity and neuropsychological characterization of Asperger syndrome Journal of Child Psychology Psychiatry and Allied Disciplines 36 1127 1140 Google Scholar Klin, A. Volkmar, F.R. Sparrow, S.S. eds. 2000Asperger syndrome Guilford Press New York Google Scholar Landa, R. 2000 Social language use in Asperger syndrome and high-functioning autism Klin, A. Volkmar, F.R. Sparrow, S.S. eds. Asperger syndrome. Guilford Press New York, NY 125 155 Google Scholar Leckman, J.F., Sholomskas, D., Thompson, W.D. 1982 Best estimate of lifetime psychiatric diagnosis: A methodological study Archives of General Psychiatry 32 879 883 Google Scholar Leekam, S., Libby, S., Wing, L., Gould, J., Gillberg, C. 2000 Comparison of ICD-10 and Gillberg’s criteria for Asperger syndrome Autism 4 11 28 Google Scholar Lincoln, A., Courchesne, E., Allen, M., Hanson, E., Ene, M. 1998 Neurobiology of Asperger Syndrome: seven case studies and quantitative magnetic resonance imaging findings Schopler, E. Mesibov, G. Kunce, L.J. eds. Asperger syndrome or High-Functioning Autism? Plenum New York 145 166 Google Scholar Lincoln, A.J., Allen, M., Kilman, A. 1995 The assessment and interpretation of intellectual abilities in people with autism Schopler, E. Mesibov, G. eds. Learning and Cognition in Autism. Plenum New York, NY 89 117 Google Scholar
Lord, C., Rutter, M. & DiLavore, P.(1996). Autism diagnostic observation schedule – Generic (ADOS-G). Unpublished manuscript. University of Chicago, Chicago, Illinois.
Lord, C., Rutter, M., LeCouteur, A. 1994 Autism Diagnostic Interview–Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders Journal of Autism and Developed Disorders 24 659 685 Google Scholar Martin, A., Patzer, D.K., Volkmar, F.R. 2000 Psychopharmacological treatment of higher-functioning pervasive developmental disorders Klin, A. Volkmar, F.R. Sparrow, S.S. eds. Asperger Syndrome. Guilford Press New York 210 230 Google Scholar Mayes, S.D., Calhoun, S.L., Crites, D.L. 2001 Does DSM-IV Asperger’s disorder exist? Journal Abnorm Child Psychology 29 263 271 Google Scholar Miller, J.N., Ozonoff, S. 1997 Did Asperger’s cases have Asperger Disorder? Journal of Child Psychology and Psychiatry 38 247 251 Google Scholar Miller, J., Ozonoff, S. 2000 The external validity of Asperger disorder: lack of evidence from the domain of neuropsychology Journal of Abnorm Psychology 109 227 238 Google Scholar Murphy, M., Bolton, P.F., Pickles, A., Fombonne, E., Piven, J., Rutter, M 2000 Personality traits of the relatives of autistic probands Psychological Medicine 30 1411 1424 Google Scholar Orvaschel, H., Puig-Antich, J. 1987Schedule for Affective Disorders and Schizophrenia for School-Age Children (K-SADS). (4th ed) Western Psychiatric Institute and Clinic Pittsburgh, PA Google Scholar Ozonoff, S. 2000 Neuropsychological function and the external validity of Asperger syndrome Klin, A. Volkmar, F.R. Sparrow, S.S. eds. Asperger syndrome. Guilford Press New York, NY 72 96 Google Scholar Ozonoff, S., Rogers, S., Pennington, B. 1991 Asperger’s syndrome: evidence of an empirical distinction Journal of Child Psychology and Psychiatry 32 1107 1122 Google Scholar Piven, J., Chase, G.A., Landa, R., Wzorek, M., Gayle, J., Cloud, D., Folstein, S. 1991 Psychiatric disorders in the parents of autistic individuals Journal of American Academy Child and Adolescent Psychiatry 30 471 478 Google Scholar Piven, J., Palmer, P. 1999 Psychiatric disorder and the broad autism phenotype: evidence from a family study of multiple-incidence autism families American Journal of Psychiatry 156 557 563 Google Scholar Piven, J., Palmer, P., Jacobi, D., Childress, D., Arndt, S. 1997 The broader autism phenotype: evidence from a family study of multiple-incidence autism families American Journal of Psychiatry 154 185 190 Google Scholar Prior, M., Eisenmajer, R., Leekam, S., Wing, L., Gould, J., Ong, B., Dowe, D. 1998 Are there subgroups within the autistic spectrum? A cluster analysis of a group of children with autistic spectrum disorders Journal of Child Psychology and Psychiatry 39 893 902 Google Scholar Rourke, B. 1989Nonverbal learning disabilities: The syndrome and the model Guilford Press New York, NY Google Scholar Rutter, M. 1999 The Emanuel Miller Memorial Lecture 1998 Autism: two-way interplay between research and clinical work. Journal of Child Psychology and Psychiatry 40 169 188 Google Scholar Rutter, M. 2000 Genetic studies of autism: from the 1970s into the millennium Journel of Child Psychology and Psychiatry 28 3 14 Google Scholar Smalley, S.L., McCracken, J., Tanguay, P. 1995 Autism, affective disorders and social phobia American Journal of Medical Genetics 60 19 26 Google Scholar Sparrow, S., Balla, D., Cicchetti, D. 1984Vineland Adaptive Behavior Scales, Expanded Edition American Guidance Service Circle Pines, MN Google Scholar Szatmari, P., Archer, L., Fisman, S., Streiner, D.L., Wilson, F. 1995 Asperger’s syndrome and autism: differences in behavior, cognition, and adaptive functioning Journal of American Academy Child and Adolescent Psychiatry 34 1662 1671 Google Scholar Szatmari, P., Bryson, S.E., Streiner, D.L., Wilson, F., Archer, L., Ryerse, C. 2000 Two-year outcome of preschool children with autism or Asperger’s syndrome American Journal of Psychiatry 157 1980 1987 Google Scholar Szatmary, P 2000 Perspectives on the classification of Asperger syndrome Klin, A. Volkmar, F.R. Sparrow, S.S. eds. Asperger syndrome. Guilford Press New York 403 417 Google Scholar Tantam, D. 1988 Annotation: Asperger’s syndrome Journal of Child Psychology and Psychiatry 29 245 255 Google Scholar Thomsen, P.H. 1994 Obsessive-compulsive disorder in children and adolescents: A 6–22-year follow-up study: Clinical descriptions of the course and continuity of obsessive-compulsive symptomatology European Child Adolescent Psychiatry 3 82 96 Google Scholar Van Krevelen, D.A. 1971 Early infantile autism and autistic psychopathy Journal autism and Child Schizophrenia 1 82 86 Google Scholar Volkmar, F.R., Klin, A. 2002 Diagnostic issues in Asperger syndrome Klin, A. Volkmar, F.R. Sparrow, S.S. eds. Asperger syndrome Guilford Press New York, NY 25 71 Google Scholar Volkmar, F.R., Klin, A., Cohen, D.J. 1997 Diagnosis and Classificiation of autism and related conditions: Consensus and Issues Cohen, D.J. Volkmar, F.R. eds. Handbook of Autism and Pervasive Developmental Disorders. Wiley New York, NY 5 40 Google Scholar Volkmar, F.R., Klin, A., Pauls, D. 1998 Nosological and genetic aspects of Asperger Syndrome Journal of Autism Development Disorders 28 457 463 Google Scholar 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. 1994 DSM-IV Autism/Pervasive Developmental Disorder Field Trial American Journal of Psychiatry 151 1361 1367 Google Scholar Wechsler, D. 1992Manual for the Wechsler Intelligence Scale for Children, (3rd ed.) The Psychological Corporation San Antonio, TX Google Scholar Wechsler, D. 1997Manual for the Wechsler Adult Intelligence Scale, (3rd ed.) The Psychological Corporation San Antonio Google Scholar Wing, L. 1981 Asperger’s syndrome: a clinical account Psychological Medicine 11 115 129 Google Scholar Wing, L. 1986 Clarification on Asperger’s Syndrome (Letters to the Editor) Journal of Autism Development Disorder 16 513 515 Google Scholar World Health Organization 1992The ICD-10 Classification of Mental and Behavioral Disorders World Health Organization Geneva Google Scholar Copyright information
© Springer Science+Business Media, Inc. 2005