Paper / Clinical Diagnosis Autism, PDD-NOS, Asperger’s NOT RELIABLE

Arch Gen Psychiatry. March, 2012

Note: The DSM-5 was published May, 2013 after a decade of revision; do not know if this study had any influence. Regardless, getting rid of Asperger’s did NOT solve the problems of diagnosis: ASD is still a mess of “junk-drawer” symptoms that have no “disciplined-by-fact basis” but rely on subjective interpretation by too many non-qualified “diagnosers” who feel emboldened by the LACK OF coherent diagnostic standards.

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

Lord C1, Petkova E, (more at original article) Author information

Institute for Brain Development, Weill Cornell Medical College, White Plains, NY 10605-1504, USA. cal2028@med.cornell.edu

Abstract

CONTEXT: Best-estimate clinical diagnoses  (BEC) 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. (Subjective diagnosis preferred over using standards for diagnosis) 

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) (a person serving as the starting point for the genetic study of a family, used especially in medicine and psychiatry.) between 4 and 18 years of age (mean [SD] age, 8.93  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.

PMID: 22065253

PMCID: PMC3626112

DOI: 10.1001/archgenpsychiatry.2011.148

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