C. Lord
,
University of Michigan Autism & Communication Disorders Centers, University of Michigan, New York, NY
L. Harvey
,
University of Michigan Autism & Communication Disorders Center (UMACC), Ann Arbor, MI
E. Petkova
,
NYU Child Study Center, Ny, NY
S. Qiu
,
University of Michigan Autism and Communication Disorder Center, University of Michigan Autism & Communication Disorders Center (UMACC)
J. Tjernagel
,
University of Michigan Autism & Communication Disorders Center (UMACC), Ann Arbor, MI
R. Bernier
,
Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA
J. N. Constantino
,
Psychiatry (Child), Washington University School of Medicine, Saint Louis, MO
E. H. Cook
,
Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago, IL
O. Ousley
,
Psychiatry and Behavioral Sciences, Emory University, Atlanta, GA
W. Stone
,
Pediatrics, Vanderbilt University, Nashville, TN
Z. Warren
,
Kennedy Center, Vanderbilt University, Nashville, TN
A. Beaudet
,
Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
D. E. Treadwell-Deering
,
Menninger Department of Psychiatry and Behavioral Sciences and Department of Pediatrics, Texas Children's Hosptial, Baylor College of Medicine, Houston, TX
B. Peterson
,
Department of Psychiatry, Columbia University, NYS Psychiatric Institute, New York, NY
A. Whitaker
,
Child and Adolescent Psychiatry, Columbia University Medical Center, New York, NY
D. H. Ledbetter
,
Department of Human Genetics, Emory University, Atlanta, GA
C. L. Martin
,
Department of Human Genetics, Emory University, Atlanta, GA
E. Hanson
,
Division of Developmental Medicine, Children's Hospital, Boston, MA
C. A. Walsh
,
Children's Hospital Boston, Boston, MA
E. Fombonne
,
Head, Division of Child Psychiatry, McGill University, Montreal, QC, Canada
M. Steiman
,
Autism Clinic, Montreal Children's Hospital, Montreal, QC, Canada
D. Geschwind
,
Neurology, University of California, Los Angeles
J. Piggot
,
Department of Psychiatry and Behavioral Sciences, University of California, Los Angeles, Los Angeles, CA
C. W. Brune
,
Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago, IL
D. M. Martin
,
Departments of Pediatrics and Communicable Diseases and Human Genetics, University of Michigan, Ann Arbor, MI
S. M. Kanne
,
Thompson Center for Autism and Neurodevelopmental Disorders, University of Missouri, Columbia, MO
J. H. Miles
,
Thompson Center, University of Missouri, Columbia, MO
E. M. Wijsman
,
University of Washington, University of Washington, Seattle, WA
J. Sutcliffe
,
Molecular Neuroscience, Vanderbilt University, Nashville, TN
R. Maxim
,
Knights of Columbus Developmental Center, Saint Louis University, St. Louis, MO
A. Klin
,
Yale Child Study Center, Yale University School of Medicine, New Haven, CT
L. Quirmbach
,
Child Study Center, Yale University School of Medicine, New Haven, CT
Background: In several studies, clinical diagnoses and/or certainty ratings made by clinicians within a research group have added to the value of standardized diagnostic and cognitive measures in longitudinal predictions for young children with ASD.
Objectives: The objectives of this study were to 1) assess how such clinical judgments, made across a number of tertiary clinical centers for autism, would compare to standardized assessments and 2) whether the clinical judgments would independently contribute to predictions of current impairment.
Methods: The sample consisted of 414 4 to 17 year-old probands with an autism spectrum disorder (clinical diagnoses: 65.7% autism, 21.7% PDD-NOS, 12.6% Asperger’s) from 12 North American clinics. All probands met CPEA-STAART criteria for ASD based on the ADI-R and ADOS (Risi et al., 2006). With appropriate IRB approved consents, families were recruited through the Simons Simplex Collection, a genetic and phenotypic repository for families with one child with ASD and, in most cases, at least one typical sibling. Children with severe to profound nonverbal intellectual disability, cerebral palsy, extensive birth complications, Fragile X, or Down syndrome or first/ second degree relatives with ASD were not included. Probands were assessed with the ADI-R, ADOS, a standard hierarchy of cognitive and language tests, and other behavioral and adaptive measures. Extensive efforts were made to ensure cross-site reliability of administration and scoring of the standardized measures, as well as procedures for making DSM IV diagnoses.
Results: Use of different clinical diagnoses within ASD was highly variable across sites, with some sites diagnosing most or all children with autism and other sites reporting much higher frequencies of PDD-NOS or Asperger, though the means and distributions of standardized scores on the ADI-R, ADOS and cognitive measures were very similar across sites, with a few exceptions. Use of different ASD diagnoses were related to verbal IQ, age of proband and severity of repetitive behaviors, but also reflected comparative composition of the sample within a site (e.g., how an individual proband compared to other children seen at that site). Adaptive scores and IQs for children with diagnoses of Asperger Syndrome were consistently higher than those of children with autism diagnoses; the relationship of PDD-NOS to either of the other diagnoses, adaptive functioning and all other measures was highly variable, as were proportions of children receiving different diagnoses within very similar distributions of standardized scores.
Conclusions: In the past, within-site clinical judgments of subtypes of ASD (autism, PDD-NOS, Asperger) have offered a useful source of information about functioning for young children with spectrum disorders. However, in a multi-site study of older children, such judgments were far less interpretable. Predictable factors could be identified within most sites which related to different clinical diagnoses, however, the particular factor of greatest influence varied considerably across sites, even when a standard battery of instruments was used and procedures were highly similar. Implications for the validity of clinical diagnoses within ASD will be discussed.