A multisite study of the clinical diagnosis of different autism spectrum disorders

Catherine Lord, Eva Petkova, Vanessa Hus, Weijin Gan, Feihan Lu, Donna M. Martin, Opal Ousley, Lisa Guy, Raphael Bernier, Jennifer Gerdts, Molly Algermissen, Agnes Whitaker, James S. Sutcliffe, Zachary Warren, Ami Klin, Celine Saulnier, Ellen Hanson, Rachel Hundley, Judith Piggot, Eric FombonneMandy Steiman, Judith Miles, Stephen M. Kanne, Robin P. Goin-Kochel, Sarika U. Peters, Edwin H. Cook, Stephen Guter, Jennifer Tjernagel, Lee Anne Green-Snyder, Somer Bishop, Amy Esler, Katherine Gotham, Rhiannon Luyster, Fiona Miller, Jennifer Olson, Jennifer Richler, Susan Risi

Research output: Contribution to journalArticle

225 Citations (Scopus)

Abstract

Context: 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. Objective: To determine whether the relationships between behavioral phenotypes and clinical diagnoses of different autism spectrum disorders vary across 12 university- based sites. Design: 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. Setting: Participants were recruited through 12 university- based autism service providers into a genetic study of autism. Participants: 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. Main Outcome Measure: Best-estimate clinical diagnoses predicted by standardized scores from diagnostic, cognitive, and behavioral measures. Results: 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. Conclusions: 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.

Original languageEnglish (US)
Pages (from-to)306-313
Number of pages8
JournalArchives of General Psychiatry
Volume69
Issue number3
DOIs
StatePublished - Mar 2012
Externally publishedYes

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Autistic Disorder
Language
Asperger Syndrome
Phenotype
Genetic Research
Autism Spectrum Disorder
Clinical Studies
Autism Spectrum Disorders
Diagnostics
Cognition
Observational Studies
Appointments and Schedules
Observation
Demography
Outcome Assessment (Health Care)
Interviews
Autism

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Arts and Humanities (miscellaneous)

Cite this

A multisite study of the clinical diagnosis of different autism spectrum disorders. / Lord, Catherine; Petkova, Eva; Hus, Vanessa; Gan, Weijin; Lu, Feihan; Martin, Donna M.; Ousley, Opal; Guy, Lisa; Bernier, Raphael; Gerdts, Jennifer; Algermissen, Molly; Whitaker, Agnes; Sutcliffe, James S.; Warren, Zachary; Klin, Ami; Saulnier, Celine; Hanson, Ellen; Hundley, Rachel; Piggot, Judith; Fombonne, Eric; Steiman, Mandy; Miles, Judith; Kanne, Stephen M.; Goin-Kochel, Robin P.; Peters, Sarika U.; Cook, Edwin H.; Guter, Stephen; Tjernagel, Jennifer; Green-Snyder, Lee Anne; Bishop, Somer; Esler, Amy; Gotham, Katherine; Luyster, Rhiannon; Miller, Fiona; Olson, Jennifer; Richler, Jennifer; Risi, Susan.

In: Archives of General Psychiatry, Vol. 69, No. 3, 03.2012, p. 306-313.

Research output: Contribution to journalArticle

Lord, C, Petkova, E, Hus, V, Gan, W, Lu, F, Martin, DM, Ousley, O, Guy, L, Bernier, R, Gerdts, J, Algermissen, M, Whitaker, A, Sutcliffe, JS, Warren, Z, Klin, A, Saulnier, C, Hanson, E, Hundley, R, Piggot, J, Fombonne, E, Steiman, M, Miles, J, Kanne, SM, Goin-Kochel, RP, Peters, SU, Cook, EH, Guter, S, Tjernagel, J, Green-Snyder, LA, Bishop, S, Esler, A, Gotham, K, Luyster, R, Miller, F, Olson, J, Richler, J & Risi, S 2012, 'A multisite study of the clinical diagnosis of different autism spectrum disorders', Archives of General Psychiatry, vol. 69, no. 3, pp. 306-313. https://doi.org/10.1001/archgenpsychiatry.2011.148
Lord, Catherine ; Petkova, Eva ; Hus, Vanessa ; Gan, Weijin ; Lu, Feihan ; Martin, Donna M. ; Ousley, Opal ; Guy, Lisa ; Bernier, Raphael ; Gerdts, Jennifer ; Algermissen, Molly ; Whitaker, Agnes ; Sutcliffe, James S. ; Warren, Zachary ; Klin, Ami ; Saulnier, Celine ; Hanson, Ellen ; Hundley, Rachel ; Piggot, Judith ; Fombonne, Eric ; Steiman, Mandy ; Miles, Judith ; Kanne, Stephen M. ; Goin-Kochel, Robin P. ; Peters, Sarika U. ; Cook, Edwin H. ; Guter, Stephen ; Tjernagel, Jennifer ; Green-Snyder, Lee Anne ; Bishop, Somer ; Esler, Amy ; Gotham, Katherine ; Luyster, Rhiannon ; Miller, Fiona ; Olson, Jennifer ; Richler, Jennifer ; Risi, Susan. / A multisite study of the clinical diagnosis of different autism spectrum disorders. In: Archives of General Psychiatry. 2012 ; Vol. 69, No. 3. pp. 306-313.
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abstract = "Context: 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. Objective: To determine whether the relationships between behavioral phenotypes and clinical diagnoses of different autism spectrum disorders vary across 12 university- based sites. Design: 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. Setting: Participants were recruited through 12 university- based autism service providers into a genetic study of autism. Participants: 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. Main Outcome Measure: Best-estimate clinical diagnoses predicted by standardized scores from diagnostic, cognitive, and behavioral measures. Results: 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. Conclusions: 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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AU - Lord, Catherine

AU - Petkova, Eva

AU - Hus, Vanessa

AU - Gan, Weijin

AU - Lu, Feihan

AU - Martin, Donna M.

AU - Ousley, Opal

AU - Guy, Lisa

AU - Bernier, Raphael

AU - Gerdts, Jennifer

AU - Algermissen, Molly

AU - Whitaker, Agnes

AU - Sutcliffe, James S.

AU - Warren, Zachary

AU - Klin, Ami

AU - Saulnier, Celine

AU - Hanson, Ellen

AU - Hundley, Rachel

AU - Piggot, Judith

AU - Fombonne, Eric

AU - Steiman, Mandy

AU - Miles, Judith

AU - Kanne, Stephen M.

AU - Goin-Kochel, Robin P.

AU - Peters, Sarika U.

AU - Cook, Edwin H.

AU - Guter, Stephen

AU - Tjernagel, Jennifer

AU - Green-Snyder, Lee Anne

AU - Bishop, Somer

AU - Esler, Amy

AU - Gotham, Katherine

AU - Luyster, Rhiannon

AU - Miller, Fiona

AU - Olson, Jennifer

AU - Richler, Jennifer

AU - Risi, Susan

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N2 - Context: 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. Objective: To determine whether the relationships between behavioral phenotypes and clinical diagnoses of different autism spectrum disorders vary across 12 university- based sites. Design: 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. Setting: Participants were recruited through 12 university- based autism service providers into a genetic study of autism. Participants: 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. Main Outcome Measure: Best-estimate clinical diagnoses predicted by standardized scores from diagnostic, cognitive, and behavioral measures. Results: 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. Conclusions: 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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