Some people with autism have severe physical illnesses, such as gastrointestinal disorders, mitochondrial disease, or epilepsy. Others are perfectly healthy, though they have significant developmental issues. Some are extremely verbal; others never say a single word. Some people with autism have known genetic disorders which led to their autistic symptoms, while others are just... autistic.
The Problem with Autism DiagnosisAt this point in history, we don't know what causes most cases of autism. Nor do we know which therapies are likely to be most helpful in treating any individual on the spectrum. Most experts believe that there are multiple "autisms," and that each "autism" is caused by something different. So we are stuck with a form of diagnosis which looks at symptoms -- but not at causes.
Imagine thousands of patients complaining of "headache," with doctors explaining "there are many different "headaches". Some will go away if you get a good night's sleep. Others are the result of an underlying but treatable illness. Still others are symptoms of a fatal disease. All we can do, really, is describe your headache carefully, and offer you the usual treatments -- aspirin, stress relief, and a comfy pillow. If it's not cured, we'll call it a chronic illness." That's more or less where we are with autism.
How DSM-5 Will Provide Personalized Autism DiagnosesThe prior diagnostic criteria (DSM IV) tried to parse out different autisms by creating five different categories for diagnosis, including Asperger syndrome and PDD-NOS. But no one knew where one disorder ended and the next began, leading to lots of confusion and frustration. The new diagnostic criteria (DSM-5) allows for more personalized diagnosis through the use of levels and specifiers.
I've described the "levels of support" in detail in another article; in essence, they provide information about the degree of severity of symptoms. The specifiers allow clinicians to describe each individual person's autism in much more detail than ever before. This means that it's now possible to diagnose someone with, for example, "level three (severe) autism spectrum disorder with gastrointestinal symptoms and intellectual challenge." The official specifiers include:
- With or without accompanying intellectual impairment
- With or without accompanying language impairment
- Associated with a known medical or genetic condition or environmental factor (Coding note: Use additional code to identify the associated medical or genetic condition.)
- Associated with another neurodevelopmental, mental, or behavioral disorder (Coding note: Use additional code[s] to identify the associated neurodevelopmental, mental, or behavioral disorder[s].)
- With catatonia
Will New Autism Diagnosis Tools Work?How well will this work out? The jury is still out, and the verdict remains to be seen. One study concludes: "DSM-5 provides better specificity (so reducing false-positive diagnoses), but at the expense of potentially reduced sensitivity, especially for older children, adolescents and adults, individuals without intellectual disability, and individuals who previously met criteria for diagnoses of DSM-IV “Asperger's disorder" or “pervasive developmental disorder not otherwise specified." It remains to be seen in real-life settings how diagnostic practice, service delivery, and prevalence estimates will be affected by applying DSM-5 ASD criteria. In particular, one major nosological issue is to what extent individuals fitting DSM-IV PDD but not DSM-5 ASD diagnoses will end up falling into the newly created diagnosis of “Social (Pragmatic) Communication Disorder". Clearly more research needs to be done to provide a thorough and fair evaluation of this revision."
American Psychiatric Association. (2000). Diagnostic and statistical manual of mental disorders (4th ed., text rev.). Washington, DC.
American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Washington, DC.
American Psychiatric Association. "Autism Spectrum Disorder Fact Sheet." (2013). Washington, DC.
Lai M-C, Lombardo MV, Chakrabarti B, Baron-Cohen S (2013) Subgrouping the Autism “Spectrum": Reflections on DSM-5. PLoS Biol 11(4): e1001544. doi:10.1371/journal.pbio.1001544