What does a Pediatrician do for a suspected Autism Spectrum Disorder and again I hope, I didn't pressed you that your threshold should be really well and again, my apology is to those of you for whom this is bread and butter everyday stuff you do for the students and residents, I hope that it's important and useful information.
First thing, wait and see is not a good thing. It doesn't reassure parents, they don't appreciate it. They need education. Depending on your patient population, they will have more education than you do, than I do. They will come in with the latest articles off the web, but not everybody does. So it's our obligation to not just say, well, you know, it might be little talk or let's just see and there is information out there. There is booklet from the American Academy of Pediatrics. There is a large campaign, many websites, lots of information available and then, I think, the most important thing is the simultaneity of next three steps.
One is to initiate a comprehensive evaluation and that includes the primary care practitioner and the team. Second, refer for early intervention and this is important because early intervention can start therapy even in the absence of a diagnosis and it doesn't matter -- if what they are doing is work to promote communication, speech development and they do that even if they are not specifically doing that with a diagnosis of Autism Spectrum Disorder, at least they are doing it. They are getting started and a precise diagnosis can wait and then the third thing that crucial is to order a hearing test and again, the comprehensive evaluation is something that needs to be done as a partnership, in the medical home and with the team and the team ideally includes neurologist and or developmental pediatrician, psychologist, psychiatrist, Speech and Language therapist, occupational therapist, social worker, geneticist, asterisks for geneticist.
One of the problems that we face and everyone in the country in faces is that professionals competent to make this diagnosis and use standardized instruments and tools. There is a paucity of them. So we need to initiate therapy and initiate educational processes for parents and initiate diagnostic processes even if we can't do it ideally, in an ideal linear fashion like we like to do with more precise medical diagnosis and diseases.
What should an evaluation tell you? It should tell you the overall level functioning of the child. It should tell you whether the diagnosis of an Autism Spectrum Disorder can be made and how much of a search for an etiology is indicated and what does that evaluation consist of? The history, a physical exam, a psychological assessment, ideally using standardized diagnostic tools such as the Autism Diagnostic Observation Schedule, developed by Catherine Lord which is a series of presses of artificial such clay situations in which child is presented with a stimulus and his response is quoted by trained observers and that is given a numerical score. That is often not necessary to make the diagnosis of Autism when the features are clinically clear. I find it useful clinically when I am on the fence between Isolated Language Disorder and Autism Spectrum Disorder.
Of the four things that are usual differential diagnosis when a toddler presents with delayed language, deafness, Global Mental Deficiency, Isolated Speech and Language Disorder or autism are the big four. Deafness you can rule out. Global Mental Deficiency requires some measured psychological testing that can be ruled in or out, but Isolated language versus Autism Spectrum is sometimes the most difficult diagnosis to make and that's where standardized tools are very helpful.
It is also virtually impossible to publish a research paper on the Autism Spectrum Disorder population without standardized testing to confirm the diagnosis. We also need to assess the parents understanding of the disorder and their coping skills, the resources and support they have and the laboratory investigations.
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