So says Ellen Raphael, UK director of Sense About Science, regarding the “bad science tips” made by various celebrities and public figures (from Tom Cruise on psychiatry to, yes, President-Elect Barack Obama on vaccines and autism).

Here’s hoping that they’ll all take a New Year’s resolution to do a little fact-checking, or at least web-surfing, before offering those tips in 2009.

So the December 17th New York Times refers to the DSM, the Diagnostic and Statistical Manual of Mental Disorders, now in its fifth revision. Will Asperger Syndrome and “high-functioning autism” be merged? Will sensory processing disorder enter the DSM?

The revision, it’s noted, “will have consequences for insurance reimbursement, research and individuals’ psychological identity for years to come,” and, too, for our cultural understanding of what “autism” is. Perhaps it’d be more accurate to call the DSm (whatever revision), the book of being human, all too human.

So what is autism?

Chances are, if you’re reading this, you know, and are quite prepared to explain at the drop of the hat “what autism is.”

But what if you’re asked:

Why is there this separate term, “PDD-NOS”?

What is child disintegrative disorder and what does that have to do with autism, plain and simple? (as if there is such a “plain and simple autism”)

If a child has Fragile X, that means they don’t have autism……right….no….which?

Does “high-functioning autism” mean “Asperger’s Syndrome” only?

What’s the connection between autism and ADHD? Can you have both?

Can where you are and what culture a child is raised in influence diagnosis?

Is autism necessarily a life-long diagnosis?

These are just some of the questions and topics posed in a November report from the DSM-V Neurodevelopmental Disorders Work Group, written by Susan Swedo. The report is available via the website of the America Psychatric Association; more about the “future manual” of the DSM-V can be read here and go to Unstrange.com for an overview of how the diagnostic criteria for autism have changed through the years.

I gave a talk about autism to the Sociology Club at my college yesterday; one topic I discussed was how official definitions and our understanding of autism have changed over the years (however aware we are of this or not). I talked about theories of what causes autism; of the concept of an autism “spectrum”; about the need for including autistic individuals in schools and communities and not shutting them away in institutions; about my own experience taking care of my son and our search for the right school for him; about a family in China’s search for an education and therapy for their son as depicted in the film Children of the Stars and how is autism diagnosed in other countries?.

I only had a lunch period (not even 50 minutes; everyone had to run off so as not to be late for their 1pm class) and I felt as if I were putting out a lot of information, without really connecting it. In retrospect—especially as I reviewed the questions still being considered about autism spectrum disorders by the Neurodevelopmental Disorders (ND) workgroup—I started to think that maybe that’s just part of what happens when one tries to define and categorize “what” my son has and what he is; to find abstractions and generalizations for the specifics of one child I spend my days with.

The DSM revisions matter as they’ll have an impact on the services and therapies a child might “qualify” to have, based on what particular diagnosis a child is given. Even as we finesse the criteria and hone our understanding, and our categorization of “what” constitutes a diagnosis or not, will we lose the sense of some kind of common ground provided by the concept of an “autism spectrum”—or is this ground not so common as it might appear to be?

h/t to j/m

More than 389,000 children and teenagers were treated with Risperdal—an atypical antipsychotic—last year. And, 240,000 of them were 12 years old or younger, the November 18th New York Times reports. A panel of federal drug experts stated that medications like Risperdal are ” being used far too cavalierly in children” and that “federal drug regulators must do more to warn doctors of their substantial risks.”

Risperdal has been approved for treating irritability in autistic children. The New York Times notes that “in many cases, the drug was prescribed to treat attention deficit disorders,” for which it has not been approved for:

The meeting on Tuesday was scheduled to be a routine review of the pediatric safety of Risperdal and Zyprexa, popular antipsychotic medicines made, respectively, by Johnson & Johnson and Eli Lilly & Company. Food and Drug Administration officials proposed that the committee endorse the agency’s routine monitoring of the safety of the medicines in children and support its previous efforts to highlight the drugs’ risks.

But committee members unanimously rejected the agency’s proposals, saying that far more needed to be done to discourage the medicines’ growing use in children, particularly to treat conditions for which the medicines have not been approved.

“The data show there is a substantial amount of prescribing for attention deficit disorder, and I wonder if we have given enough weight to the adverse-event profile of the drug in light of this,” Dr. Daniel Notterman, a senior health policy analyst at Princeton University and a panel member, said when speaking about Risperdal.

The side effects of Risperdal are serious and include substantial weight gain, metabolic disorders, tardive dyskinesia and dystonia.

My son’s among those 389,000 children, and among those 240,000 children aged 12 and younger, who are taking Risperdal. He’s been taking Risperdal since the spring of 2004, at a time when his self-injurious behavior—head-banging—-was severe and he was on the verge of being removed from a public school special education classroom to an out-of-district placement. This is a more detailed account of what Charlie’s experience on Risperdal has been. The most difficult side effect has been the substantial increase in his appetite and the resulting wet gain; we’ve sought to address this by watching Charlie’s diet (and minimizing junk food, in particular) and by making sure he gets a lot of exercise.

I really didn’t want to put Charlie on medication. And truly, it’s not the “answer” in and of itself for addressing aggressive or “problem behaviors.” Even as he wrote the first prescription for Risperdal for Charlie, our pediatric neurologist told us sternly that Charlie also had to have behavior therapy; that we had to keep his education in mind first.

Charlie was 7 1/2 when he started taking Risperdal — since then, mostly via this post, I’ve heard of younger and younger children being prescribed Risperdal. The federal panel’s concern seems very much justified. The New York Times notes a few more reasons why, including the rise of the diagnosis of bipolar disorder in children; however:

The leading advocate for the bipolar diagnosis is Dr. Joseph Biederman, a child psychiatrist at Harvard University whose work is under a cloud after a Congressional investigation revealed that he had failed to report to his university at least $1.4 million in outside income from the makers of antipsychotic medicines.

In the past year, Risperdal prescriptions to patients 17 and younger increased 10 percent, while prescriptions among adults declined 5 percent. Most of the pediatric prescriptions were written by psychiatrists.

From 1993 through the first three months of 2008, 1,207 children given Risperdal suffered serious problems, including 31 who died. Among the deaths was a 9-year-old with attention deficit problems who suffered a fatal stroke 12 days after starting therapy with Risperdal.

At least 11 of the deaths were children whose treatment with Risperdal was unapproved by the F.D.A. Once the agency approves a medicine for a particular condition, doctors are free to prescribe it for other problems.

Panel members said they had for years been concerned about the effects of Risperdal and similar medicines, but F.D.A. officials said no studies had been done to test the drugs’ long-term safety.

No studies done to test the drugs’ long-term safety: It’s a phrase that keeps ringing in my ears; in any parents’ ears. Charlie can’t tell us how he feels taking the medications so it’s up to us and Charlie’s teachers to watch and observe, to adjust and alter. And to know that, medications can help, but they’re just on part of the picture, and a part that needs to be kept under very careful scrutiny.

Today’s ABC News reports on the difficulty of getting a diagnosis of autism. 29-year-old Jason Ross was 25 when he was diagnosed with Asperger’s Syndrome; his mother, Lois Ross, describes how he was first said to have speech delay, attention deficit disorder, “psychosis not otherwise specified,” obsessive compulsive disorder and schizophrenia. You can also read Ross’s own words on his blog, Drive Mom Crazy.

Unraveling Autism: What’s Next in Treatment and How Do We Best Train Practitioners to Provide It? is the headline for a press release about a panel discussion offered by the Chicago School of Professional Psychology, Los Angeles Campus.

I don’t know, I just prefer to talk about teaching—not “treatment.”

ABC News lists, and debunks,10 myths about autism—–the discussion of the first myth (”autism is an emotional or mental health disorder”) contains this not quite correct assertion:

“Autism is a biological illness.”

Autism isn’t something you can catch (like measles) and it is not (as ABC News points out) something that can be cured. Myths have a way of persisting……..

Nestor Lopez-Duran Ph.D., a clinical psychologist and neuroscience researcher, writes the Translating Autism blog, which I’ve come to rely on for thoughtful and in-depth reviews of recent autism research. A recent post, Neuropsychological evaluations of children with autism: From recommendations to practical implementation is especially helpful. Dr. Lopez-Duran notes his own experience conducting neuropsychological evaluations of children with Autism Spectrum Disorders and particularly describes how a neuropsychological evaluation can be used to “guide decisions regarding eligibility for special education services”—how it is more than a “diagnostic procedure.”

Such an evaluation includes six areas:

1. Cognitive and Functional Academics
2. Self-Management
3. Communication: Verbal and Non-Verbal
4. Motor Skills
5. Daily Living Skills
6. Social Functioning (including play)

And, as Dr. Lopez-Duran notes, “EIPs should discuss how each of the 6 areas above will be addressed in regards to environmental modifications, specific instruction, and targeted behaviors.” In particular, the creation of a “bridge document” is called for; such a document can be used in an IEP meeting and “provide very specific recommendations regarding environmental changes, instructional changes, and targeted behaviors”—can help to integrate the neuropscyhologist’s recommendations as seamlessly as possible into an IEP and help a child.

Which is the main aim, indeed.

Researchers from the Seaver and NY Autism Center of Excellence at New York’s Mount Sinai School of Medicine have developed a new method to detect copy number variants associated with autism spectrum disorders and have also found new chromosomal duplications that can be linked to autism.The study is published in the October 16th BMC Medical Genomics.

279 child with ASDs were screened for micro-duplications and -deletions in regions of the genome that have been connected to other cognitive conditions. The researchers detected several previously known duplications associated with autism, but also some that had not previously been recognized. The approach that psychiatry researcher Joseph Buxbaum and his colleagues used is multiplex ligation-dependent probe amplification, or MLPA which, it’s underlined, is an inexpensive and “efficient method to screen or chromosomal abnormalities,” whether these are large or small duplications.

Here’s a summary of the study from Genome Web:

The researchers screened 279 unrelated children with ASD using four different MLPA panels targeted parts of the genome previously linked to cognitive impairment. The subjects, who were around 8 years old, were not pre-selected based on dysmorphism or cognitive defects, Buxbaum said.

After weeding out copy number variants that were found in healthy controls and validating micro-deletions or -duplications using fluorescence in situ hybridization, quantitative PCR, or direct sequencing, the researchers found that about one to two percent of those with ASD also had a chromosomal abnormality associated with cognitive impairment.

For instance, they found subjects with duplications in a chromosome 15 region known to be involved in Prader-Willi/Angelman syndrome, a region of chromosome 22 that’s linked to DiGeorge syndrome, and a region of the X-chromosome that’s associated with X-linked non-specific mental retardation. The team also detected subjects with a partial duplication in the ASMT gene, which is found in the pseudoautosomal region 1 of sex chromosomes and has been previously linked to ASD.

Although the approach is quick and easy, Buxbaum cautioned, MLPA can’t be used to find new, unknown mutations — a situation that may occur in autism. That means it could miss private mutations that could be caught using array CGH with a dense chip.

In contrast, array CGH is “very expensive and time consuming.”

Buxbaum notes that these findings are mostly significant for an etiological understanding of autism and to starting a child on therapy as soon as possible:

………he emphasized, it would be unrealistic and undesirable to think of applying this sort of test in a prenatal setting, particularly because the individual mutations associated with autism are often incredibly rare, often with a vast range of expressivity. In cases where there is a family-member with a known genetic condition, Buxbaum noted, genetic testing for that specific condition can sometimes be desirable.

“Every time you say genetic testing, some people automatically think of pre-natal testing,” Buxbaum said. “This is more about giving an etiological diagnosis to children with autism.”

Multiplex ligation-dependent probe amplification for genetic screening in autism
spectrum disorders: Efficient identification of known microduplications and
identification of a novel microduplication in ASMT can be read as a PDF file.

A recent post asking if autism is different in girls led to an interesting discussion; Sullivan also noted that the IACC Strategic Plan specifically mentioned “research on females with ASD to better characterize clinical, biological and protective features.” Back in August of 2007, the Telergraph, Charlotte Moore (author of George and Sam and the mother of three sons, two of whom are autistic) interviews four autistic women—one of whom (Lauren) was only diagnosed at the age of 23—-and asks whether the rate of autism in women is lower than that in men is due to women being better able to pretend to be “normal.” The women whom Moore interviews are very much aware of being different and of struggling to “conform to normal social expectations of female behaviour”; they’ve been bullied and been misdiagnosed with psychiatric illnesses or learning difficulties:

social stereotyping can lead to autistic behaviour going unnoticed. A woman who depends heavily on a dominant husband and has little life outside the home may well escape scrutiny. In school, while autistic boys are typically loud, disruptive and destructive, girls can be quiet, passive and compliant, but mentally absent; and students who give no trouble are less likely to be flagged up by a busy teacher.

Moore also cites a theory connecting autism to anorexia in some women:

Christopher Gillberg of the National Centre for Autism Studies at the University of Strathclyde explains, ‘A girl may be withdrawn and uncommunicative without attracting attention, but when she develops a calorie fixation it becomes a serious problem. Counting calories may be a manifestation of autism. Some women could be going undiagnosed.’

One psychiatry professor has even described anorexia as possibly being the “female Asperger’s. (Conversely, it could be argued that anorexics, while being obsessive-compulsive and having a “distorted pattern of processing information,” are too aware of social, of society’s norms and hyper-imagine what other people might be thinking about their bodies and appearance.)

Moore makes this comment about changing trends in the diagnosis of autism:

When the first of my two autistic sons was diagnosed in 1994, someone told me that autism was more prevalent among Jews (my sons’ father is partly Jewish). This notion probably arose because many mid-century psychiatrists and psychoanalysts were Jewish, so interest in and awareness of unusual mental states was higher among Jewish families, who were therefore more likely to seek consultations for their children. Similarly, Asperger believed autism to be more prevalent amongst the professional classes, failing to see that it was simply more likely that such a parent would seek his advice. We now know that autism is not related to ethnicity, income or social class. Are we about to find that it is not as strongly linked to gender as has been supposed, that there are more autistic women out there than we imagine?

I’m going to hazard a less-than-hesitant “yes.”