Disorder or difference? Autism researchers face off over field’s terminology A long-smoldering debate among scientists studying autism has erupted. At issue is language—for example, whether researchers should describe autism as a “disorder,” “disability,” or “difference,” and whether its associated features should be called “symptoms” or simply “traits.” In scientific papers and commentaries published in recent months, some have decried ableist language among their colleagues whereas others have defended traditional terminology—with both sides saying they have the best interests of autistic people in mind. The vitriol is harming the field and silencing researchers, some fear, but others see it as a long-overdue reckoning. Since autism’s earliest descriptions in the academic literature as a condition affecting social interaction and communication, researchers and clinicians have framed it as a medical disorder, with a set of symptoms to be treated. Historically, autistic children have been institutionalized and subjected to treatments involving physical punishment, food restriction, and electric shocks. Even today, the most widely used autism therapy—applied behavior analysis—is seen by some as a harmful tool of normalization. Many autistic people and their families have instead embraced the view that their difficulties lie not with their autism, but with a society that isn’t built to support them. But according to some autism researchers, the field still too often defaults to terms with negative connotations. For example, in addition to “symptom” and “disorder,” many scientists use the term “comorbid” rather than the more neutral “co-occurring” to describe conditions that tend to accompany autism. Similarly, some argue the oft-used phrase “people with autism,” as opposed to “autistic person,” can imply that autism is necessarily an unwanted harmful condition.

The transcription factor MYT1L normally protects the molecular identity of nerve cells. If it is genetically switched off in human nerve cells or in mice, the functional changes and symptoms typical of autism occur. A drug that blocks sodium channels in the cell membrane can reverse the consequences of MYT1L failure and alleviate the functional and behavioral abnormalities in mice. Disorders from the autism spectrum (ASD, autism spectrum disorders) are not only manifested by impairments in social interaction, communication, interest formation and by stereotypical behavior patterns, but are often accompanied by other abnormalities such as epilepsy or hyperactivity. Scientists are intently searching for the molecular abnormalities that contribute to this complex developmental disorder. A multitude of genetic factors that influence the molecular programs of the nerve cells have already been linked to the development of autism. Moritz Mall from the Hector Institute for Translational Brain Research (HITBR) has long been researching the role of the protein MYT1L in various neuronal diseases. The protein is a so-called transcription factor that decides which genes are active in the cell and which are not. Almost all nerve cells in the body produce MYT1L throughout their entire life span. Read More