Thursday, November 20, 2008

Evolving Definitions

So, what IS autism, anyway?

Not a rhetorical question, that.

I suppose that on some philosophical level, there is a knowable "something" that is the quintessence of that which we call "autism."

Problem is, we haven't managed to catch up to it yet, either from a causality standpoint or a definitional standpoint.

When I first began to learn about autism, I took a line of thought that I think I've since outgrown... I hung my hat on the clinical, psychiatric definition of autism that formed the basis for Joy's diagnosis. That definition comes from the Diagnostic and Statistical Manual of Mental Disorders, published by the American Psychiatric Association. The most recent edition, the 4th edition, came out in 1994, and is known as the DSM-IV. I referenced in a previous post the peculiar combination-platter approach that checks off certain criteria in certain groupings to constitute an autism diagnosis:
A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3)

Uncle Schnirelmann obligingly contributed to the comments of that post a calculation of the number of potential combinations!

Here's the thing, though. This particular combination-platter that "is" autism has only been on the books since 1994. Autism was first added to the DSM in 1980; PDD-NOS (which broadens the autism spectrum considerably) was added in 1987; the autism definition expanded yet further in the current 1994 version, including the first mention of Asperger's.

Is autism in-and-of-itself really only the latest psychiatric definition? Did autism an sich (German for in-and-of-itself) actually change? Surely a reference book doesn't have quite that kind of power, right?

For anyone still hanging his or her hat on the clinical definition, hold on to the brim, because the world of psychiatrically-defined autism will be changing again, in not too many years.

The new DSM-V is due out in May 2012. The American Psychiatric Association started the wheels of the new edition turning as far back as 1999, in collaboration with the National Institute of Mental Health. There have been conferences and task forces, and starting in May 2008, 13 different work groups were convened to deal with different areas in the purview of the DSM. Autism is covered by the Neurodevelopmental Disorders Work Group, chaired by Susan Swedo, MD.

I didn't know all this off the top of my head, of course; got it from the American Psychiatric Association web site on the upcoming DSM-V. I started poking into this due to a blog post called Sausages and Legislation by afbh at Whose Planet Is It Anyway? The post references an LA Times piece from earlier this week, regarding a dispute between psychiatrists as to whether the process of assembling the DSM-V is going to be primarily a transparent process, or a closed-door process.

So that got me wondering, what exactly do we know about the status of the autism definition revision at this point? And that led me to this brief Report of the DSM-V Neurodevelopmental Disorders Work Group, dated November 2008.

The report lists three main areas of discussion for the work group:

1) Possible modification of ADHD criteria to allow for co-morbidity of autism and ADHD (currently excluded). The ADHD & Disruptive Behavior Disorders Work Group has agreed to consider this possibility.

2) Discussion of the validity of Rett’s disorder as a separate disorder and inclusion of a new modifier within the Autism Spectrum Disorders (ASD), which might include genetic and medical disorders and other biologically-definable conditions.

3) How to address Pervasive Developmental Disorders – Not Otherwise Specified (PDD-NOS). The individuals currently diagnosed with PDD-NOS may still be described in DSM-V, but the work group will discuss whether they can redefine ASD in such a way that the PDD-NOS diagnosis isn’t necessary, as this diagnosis currently captures a very heterogeneous group of individuals.

Then there are eight additional questions, and various subcommittees. I'm hoping this gets wider play in the autism blogs -- Kristina at Autism Vox has started that ball rolling. I'd like to see someone eventually take it in turn to invite discussions of each of the points and questions separately. (Not to worry. I won't inflict that on my particular readership!)

I will just comment a bit, though, on the one of the first three points that jumped out at me, and that's point #2, about the interface between autism and other genetic or biologically-definable conditions. The dual-diagnosis thing has been of particular interest to me, given Joy's combination of autism with linear nevus sebaceous syndrome. In our case, we've been conceptualizing Joy's autism as falling somehow under the LNSS umbrella. But I've also heard people referring to their quests to "rule out" autism by testing for genetic known-factors like Fragile X, and I've wondered why it couldn't be both -- especially since there's only one lone genetic exclusion in the DSM-IV, and that's Rett syndrome.

It's always seemed strange to me that Rett should be singled out, and at least mildly concerning that if the list of exclusions were to grow explicitly, it could have a massive impact on the eligibility for autism services of people who also have Down Syndrome, or Fragile X, or LNSS, or whatever. The work group report implies, though, that there's discussion about taking it in the other direction, maybe with explicit inclusions?

Fascinating stuff. I'm hoping that the official discussion stays as transparent as possible.


RatM said...

In my research classes, I've been cautioned about labels. Say I do a factor analysis. I mess with them in a bunch of technical ways until people settle cleanly into categories. The next step is to name the categories.

To name the categories, I look at the questions they tend to answer in a similar fashion. In a study of the motivations of park volunteers, people who answer similarly questions about "participating in activities that are deeply satisfying" and "mental refreshment through my activities" might get the label, "Personal Satisfaction."

The trick is that we have a real tendency as people to treat categories like that as if they're real. Once I have a label, I can go on about how personal satisfaction volunteers think this or do that. The label can shape your thinking. In a funny way, it acquires its own reality. Perhaps better label might be "emotional satisfaction" or "deep satisfaction," but whatever I choose is going to change the discourse.

So with Autism, you're in the same boat. The label affects you for the purposes of insurance (which is stupid, but that's another rant), but it also affects the thinking. If they switch up the label on you, that's going to change how the medical folks think about what's going on with Joy, even though she'll be the same Joy regardless of the label.

I never thought much about the process they use, even though I know folks who are fighting the fight with gender identity disorder. What a mess.

JoyMama said...

RatM - labels are slippery, and they do absolutely affect thinking. If we'd never sought out the developmentalist who gave Joy the autism diagnosis (and it wasn't something we HAD to do, we had a perfectly good explanation in the LNSS), I'd be extremely disconnected and lonely over Joy's situation because there are so few people with LNSS out there, and it's only a subgroup of those who have autism-like symptoms. Instead, not only is Joy getting a rich plateful of publicly funded services, I'm also enjoying a rich discussion and the company of a great group of bloggy-moms with whose children Joy has much in common.

I'm not sure that autism is quite as "created" as your categories of park volunteers, though I see the similarity. It still seems to me that there's an autism an sich somewhere at the bottom of all this...

Navi said...

I'd like to see them allow for adhd and autism comorbidity, being that they've found it in clinical studies... and I see it in my son... who is autistic, with a severely adhd father. I think also that if they allow for comorbidity, perhaps it will silence the 'ADHD should be on the spectrum' storm, when it really is a different condition, despite the similarities

Anonymous said...

Yes, fascinating stuff. I can just imagine some of the discussions that go on at those conferences and meetings. Ugh!

I'm completely with you on #2. So many family members ask me, confused, "So. If she has LKS (Landua-Kleffner Syndrome), does that mean she doesn't have autism?" Is it one or the other or both? Or did one cause the other? The experts still debate these things - the interface between the disorders and the defintions of the disorders themselves.

I'll spend a lifetime learning what autism is and how it affects my daughter.

Anonymous said...

This week I'm reminded that my knowledge of autism comes from knowing/observing/serving many (many) children, different ages, over many (many) years, and what I read VS. living with a child with autism.

It would not occur to me to ask if autism eliminates another diagnosis as I can easily understand co-existance of autism with another diagnosis. At the same time, I am not seeing the sense of including Rhett Syndrome on the autism spectrum. Undoubtedly I have not read enough on that.

rhemashope's response to the DMS V discussion is the same as mine - ugh! -(been in similar meetings).

There is a difference between a label and a diagnosis. The two words are not equal or synonymous in meaning or effect.

If I understand RatM correctly, she is correct for concluding the effect of labels. Different diagnoses require different treatment, sometimes. (If I misunderstand, RatM, 'never mind'.) The labeling of categories for research purposes usually comes under the idea of 'operational definition' or defined for the purposes of research. Not quite the issue of defining autism, I think.

I've been looking for what's published on brain differences in persons with autism. Albeit genetics studies provide useful information, brain info would surely guide the work of therapists.

Autism an sich is not like a bacteria or virus. I'm not sure an sich works for a syndrome or spectrum disorder.

Autism is defined by behaviors - no? Co-exists with MR and ADHD - yes?

Plenty of time to ponder - still a full 2.5 years until publication. Barbara

JoyMama said...

Barbara - I'm not sure I've ever heard of autism eliminating another diagnosis, but I've certainly heard of conditions other than Rett given as reasons why autism isn't the "right" diagnosis (as in, "well, we know it's Fragile X, so that accounts for it and the autism thing therefore doesn't apply.")

Thanks for the thoughts on the difference between label & diagnosis...

Certainly as far as the DSM-diagnosis goes, autism is defined as behaviors. And that definition keeps changing with every edition. My sense is that the "something" (autism) that the DSM is trying to define exists independently of that definition, and that the definitions are attempts to get ever closer to describing it properly. That's where I'm coming from, claiming the an sich for autism.

Would there really BE no autism, if there were no DSM definition? (Some interpreters of the incidence/prevalence statistics in the past couple decades do seem to want to make that claim!)

datri said...

Interesting stuff. I really HATE that PDD-NOS diagnosis. I mean really, I think nearly everyone has at least one of the things listed in the DSM criteria for autism! How many and which ones make it PDD-NOS?

In my experience, I find that Down syndrome/autism comorbidity is a completely different condition than Down syndrome alone or autism alone. It's a whole different set of challenges.

And it irritates me that I still find "professionals" who don't think that DS and autism can coexist. If you've ever seen Kayla in a group of her peers with Down syndrome, well, there's just no comparison. And it has nothing to do with her being more "low functioning", either.