Abbreviations and terminology surrounding autism spectrum disorders and intellectual disability


  • How to Cite this Article: Carey JC. 2011. Abbreviations and terminology surrounding autism spectrum disorders and intellectual disability. Am J Med Genet Part A 155: 2905–2905.

The medical and biological aspects of the autism spectrum disorders (ASDs) and intellectual disability (ID) represent common topics covered within the pages of the American Journal of Medical Genetics. One only has to peruse the Table of Contents of the Journal (Parts A, B, and C) to confirm the importance that these two neurodevelopmental phenotypes and their occurrence in genetic conditions have been given over the years. Notably, the terminology and designations used by clinicians and scientists surrounding these phenotypes has evolved recently as the two ensuing pieces in this month's issue of the Journal illustrate.

In the first of these Invited Commentaries, Dr. M. Michael Cohen Jr. [2011] points out the potential confusion generated currently in the commonly used abbreviation for autism spectrum disorders, that is, ASD. As he indicates, this initialism, ASD, has designated atrial septal defect in the cardiology, pediatric, and genetic literature for decades. Cohen recommends using ASD for atrial septal defect and ASDs for the autism spectrum disorders as the latter term is always stated in the plural. The Editor-in-chief and Editorial office of the AJMG wholeheartedly concur.

In the other piece Dr. Gene Fisch [2011] comments on the two previously published invited editorials that appeared in the May 2011 issue of the Journal: “Invited Comments on Terminology” by Moeschler and Nisbet, and “Mental Retardation: Is Naming the Real Issue” by Chiurazzi [Chiurazzi, 2011; Moeschler and Nisbet, 2011]. The latter two essays presented somewhat contrasting views toward the recent recommendation by several austere bodies in the field to replace the term “mental retardation” (MR) with ID. Fisch provides a compelling argument in favor of this change summarizing his reasoning from several different arenas: psychometric testing, traumatic brain injury, pejorative terminology, and tradition.

While acknowledging Dr. Chiurazzi's main point that “naming is not the real issue” and that integration of persons with disabilities into schools and work place is the key objective, AJMG will institute the policy to use ID (rather than MR) when referring to these manifestations occurring in individuals reported on in manuscripts submitted to the Journal. This change will be reflected in upcoming revisions of the Author Guidelines, which are located on the Wiley Online Library web page for the Journal (

We recognize that it will be more challenging to adapt the change to the many syndrome designations and gene name abbreviations that include MR. Thus, in referring to genes, for example, FMR1, no change will be needed; it will be required when referring to a person who has the neurodevelopmental condition.

In this small way we strive toward the acceptability that we seek for our patients and citizens with these disabilities.