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

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.

Figure 1

BEC diagnoses across sites.

Figure 2. CART.2 for BEC diagnoses with diagnostic scales, site, and diagnostician characteristics as predictors

Numbers denote Ns for each diagnostic group: AUT/PDD-NOS/ASP. ADOS-Soc+Com=ADOS Social + Communication Domain Total; ADOS-CSS=ADOS Calibrated Severity Score; ADOS Mod=ADOS Module; ADI-Social=ADI-R Social Total; ADI-VC=ADI-R Verbal Communication Total; ADI-NVC=ADI-R Nonverbal Communication Total; ADI-RRB=ADI-R Restricted and Repetitive Behaviors Total; Yr Exp=Senior Diagnostician’s Number of Years of Experience. .