The Autism Diagnosis: Ongoing and Unadressed Problems
Kanner published his original paper Disturbances of Affective Contact in 1943. In 1944 he named this disorder as early infantile autism. Using Kanner’s own description, “almost overnight, the country seemed to be populated by a multitude of autistic children”. “Many authors began to dilute the original concept of infantile autism by diagnosing it in many disparate conditions which show one or another isolated symptom found as a part feature of the overall syndrome”. While the majority of Europeans were satisfied with a sharp delineation of infantile autism as an illness sui generis, (of its own kind or a natural kind) there was a tendency in America to view it as a developmental anomaly ascribed exclusively to maternal emotional determinants. In the 1970’s the DSM-3 was published which institutionalized categorical diagnosis of all psychiatric disorders, thus supporting the assumption that these were illnesses su generis. Few today associate autism with maternal emotional determinants; however the basic questions remains; is autism a disorder sui generis or is it just a syndrome which merges into the rest of developmental disorders and other psychiatric disorders.
In this talk I will review the overlap of autism with other psychiatric and neurologic disorders and discuss the centrality of these findings; review the problem of co-morbidities; review the problem of reification of diagnosis and how that affects both clinical practice as well as phenotypic decisions for research; and review the effect that a re-organization of diagnostic concepts might have on the major stakeholders which includes primary care physicians, psychiatrists, behaviorists, educators, researchers, policy makers and affected individuals and their families.
I will present evidence that the categorical diagnosis of autism has flaws which have far reaching effects on clinical and research practice. In its stead I propose that we view autism as one outcome of anomalous brain development. Rather than seeing co-existing problems as co-morbidities with the implication of there being two or more potentially unrelated disorders, each sign or symptoms deserves equal weight in characterizing the clinical entity which a given individual may have. Without a preconceived notion of which symptoms are “core” symptoms we have the scientific freedom to explore other pathopysiololgic models. An example might be the recent findings by several groups that in very young children, motor deficits were the most predictive of later development of autism, despite these symptoms having a small or peripheral role in the diagnosis.
In order to harmonize both the clinical and the research nosology, I propose that those with autism be part of a “super diagnostic group” which could be termed “Developmental Brain Disorders”. This could be followed by a second axis in which the specific findings of that individual could be listed. This is closer to the model currently used by the ICD for medical diagnoses.