My practice continues to speak with families who remain confused about the most accurate diagnosis for their developmentally challenged offspring. Three professionals can provide 6 different-sounding diagnosis, depending on when they examined the patient, insurance and reimbursement requirements, what they have read on the web or experienced through the media, and well-meaning (sometimes ignorant-of-the-situation) friends, relatives and ‘experts’.
There are parents who say, “I don’t care about the exact diagnosis. Please, if someone could just make things better.” For a scientist who expects to provide the most precise remedy for the condition at hand, an accurate diagnosis is the most important first step in addressing the problem correctly. Otherwise, therapies may only represent poorly-placed, short-lived bandaids; hit-and-miss at best, under which infection may occassionally smolder and worsen. Here is a list of the alphabet soup of diagnoses that professionals offer to explain the patients’ various symptoms:
Autism, Autism Spectrum Disorder (ASD), “Spectrum”
Asperger’s, Asperger’s Syndrome (AS)
Pervasive Developmental Delay, Not Otherwise Specified (PDD-NOS)
Developmental Delay (DD)
Developmental Delay plus ADHD, Oppositional Defiance Disorder (ODD), Hypotonia, etc.
Mental Retardation (MR – yes, parents still hear that)
Cerebral Encephalopathy (yes, neurologists still say that)
There’s nothing wrong with your child
A previous blog, Another Model of Autism, was the result of a great deal of thought about how to paint a picture of what I perceive, as a physician, on a daily basis. My illustration was offered to represent why symptoms such as low tone or G-I problems could precede the actual diagnosis, while ‘stims’ and sleep problems might occur as the child got older. However, as I was explaining my elaborate model to parents, I could see the puzzlement on their faces. The problem is that the term “Autism” is based on the 70 year-old observations of the father of modern child psychiatry, who believed that poor parenting was the cause, at a time when the incidence was less than 1 per 10,000, patients presented with much more severe symptoms, and at a an older age.
The puzzle pieces don’t fit together because we are talking about,
and looking at, different pictures!
It is no wonder, then, that parents are so confused, since the professionals are likewise not in agreement about what constitutes the diagnosis. For example, there are many children who DO exhibit eye contact or some socialization and others who DON’T have severe tantrums or obvious repetitive movements. Is that ‘autism’ or is that PDD-NOS? It depends on the professional, their training, experience, and understanding of the problem. Furthermore, there exists the belief that people cannot recover from autism, so, if the patient improves, it wasn’t autism. Or, thinking that that the condition ‘turns into’ Asperger’s Syndrome, because the patient can talk and appears to be ‘high-functioning’. There is really no term to define the situation in patients who have improved from the condition because of ABA or biomedical intervention, yet still have some ‘leftover’ behavioral challenges.
Because of such a plethora of definitions, the DSM 5 will include all similar symptomatology under the ‘Spectrum’ banner. Perhaps the revised nomenclature may make the terminology more streamlined, but I am not sure that it will help parents and professionals understand 1) why development is not proceeding normally, 2) how to choose the best intervention(s), and 3) what the prognosis will be? In my practice, I observe many different types and presentations of autism, Asperger’s, PDD-NOS and variations of normal development. It would be preferable if science could detail each type of developmental delay, because treatments could be evaluated and targeted with more precision, and therefore more likely to be successful.
As in other epidemics (Legionnaire’s disease, HIV, ‘Swine’ flu, breast cancer), patients are left in the dark while science determines cause(s) and effective treatments. The present condition that we call ‘Autism’ is so extensive, poorly-defined and enigmatic that it leaves families extremely frustrated as they seek help for their affected children.
In the meantime, we are left to call it something as etiology, prevention and precise treatment await further discoveries. It’s not fair.