The earlier part of this year saw the publication of a number of studies about the genetics of autism, with one scientist speculating about a unified theory of autism.

The July 2008 Nature Genetics has a review of psychiatric genetics that considers progress and controversy. Here is the abstract:

Several psychiatric disorders — such as bipolar disorder, schizophrenia and autism — are highly heritable, yet identifying their genetic basis has been challenging, with most discoveries failing to be replicated. However, inroads have been made by the incorporation of intermediate traits (endophenotypes) and of environmental factors into genetic analyses, and through the identification of rare inherited variants and novel structural mutations. Current efforts aim to increase sample sizes by gathering larger samples for case–control studies or through meta-analyses of such studies. More attention on unique families, rare variants, and on incorporating environment and the emerging knowledge of biological function and pathways into genetic analysis is warranted.

And some more information about genetic tests and psychiatric disorders: In a recent post on Eye on DNA by Dr. Hsien Hsien Lei, describes newly-developed (and, in some cases, still being developed) genetic tests for psychiatric disorders that are being offered by three different companies. Neuromark’s Mark-C will examine two genetic markers, GRIK2 and GRIA3, that appear to increase the risk of suicidal thoughts in people taking antidepressant drug Celexa; Psynomics is offering a test for mutations of genes linked to bipolar disorder and to patient responses to serotonin-based drugs; SureGene “examines a panel of (unspecified) genes and markers that is being marketed to aid in the diagnosis of patients at risk of developing psychosis,” and that may also be used to predict a person’s response to taking anti-psychotic medications. Autism is not a psychiatric condition (though it used to be considered such); some of the issues raised in the development of these genetic tests are relevant to consider, especially if some kind of genetic test for autism is created.Eye on DNA includes a thoughtful comment from a family practice physician, Tim Janzen, on a Genealogy-DNA discussion list. Dr. Janzen notes that attendant anxiety that may arise in some one who receives a positive result on such a test and underscores that these tests indicate a “genetic predisposition”:

Patients who have a family history of mental illness or other conditions already know that they have a predisposition (unless they are adopted). Thus the genetic results will either reinforce the fact that specific patients are at increased personal risk or they will show that they are at lower risk than they might otherwise be. We shouldn’t forget that environment also plays a role in mental health. Drug abuse is one environmental factor that also predisposes to mental illness.

Genetic testing might be incorporated into “treatment algorithms for people with mental illness.” Regarding “environmental factors,” it’s not quite clear what Dr. Janzen is referring to, though he seems to be speaking not so much about factors such as air pollution, but about what potential parents might do, or not do.

Genetic testing is an understandably sensitive topic in discussions about autism: There are concerns about what choices parents might make if there were a prenatal test for autism and as other diagnostic genetic tests for autism are developed. As my son’s communication abilities are limited—–he is not able, yet, to describe his emotions or if his stomach hurts, or how a certain medication might be affecting him—and here other kinds of testing might, or might not be helpful. Indeed, seeking answers about what to do is a motivating reason for why people are in search of a physiological marker for autism.

Sunday’s New York Times had an article about “Mad Pride”: More people with “severe forms of mental illness such as schizophrenia and bipolar disorder” are now speaking out about “their demons”:

About 5.7 million Americans over 18 have bipolar disorder, which is classified as a mood disorder, according to the National Institute of Mental Health. Another 2.4 million have schizophrenia, which is considered a thought disorder. The small slice of this disparate population who have chosen to share their experiences with the public liken their efforts to those of the gay-rights and similar movements of a generation ago.

Just as gay-rights activists reclaimed the word queer as a badge of honor rather than a slur, these advocates proudly call themselves mad; they say their conditions do not preclude them from productive lives.

One of the persons interviewed for the article is a law professor and associate dean at the University of Southern California, Elyn Saks, who has schizophrenia; she did not reveal her diagnosis until after she had received tenure.

Autism as I understand it, as I know it from my son Charlie, and as I write about it here, is not a mental illness. It’s a neurological disorder. Nonetheless, there’s been a side-discussion going on about autism, trauma, and neurosis in an older post I did on Floortime therapy, in which autism is referred to as psychological and even psychogenic. If there’s one theory about autism causation that today’s parents universally reject, it is that they themselves “caused” a child to become autistic due to the parents being emotionally withdrawn, as stated in the infamous “refrigerator mother theory.”

One could argue that some of the past and present stigma cast upon autistic individuals is in part because of misconceptions not only of autism, but of mental illness. More about “Mad Pride” in the New York Times:

Members of the mad pride movement do not always agree on their aims and intentions. For some, the objective is to continue the destigmatization of mental illness. A vocal, controversial wing rejects the need to treat mental afflictions with psychotropic drugs and seeks alternatives to the shifting, often inconsistent care offered by the medical establishment. Many members of the movement say they are publicly discussing their own struggles to help those with similar conditions and to inform the general public.

“It used to be you were labeled with your diagnosis and that was it; you were marginalized,” said Molly Sprengelmeyer, an organizer for the Asheville Radical Mental Health Collective, a mad pride group in North Carolina. “If people found out, it was a death sentence, professionally and socially.”

She added, “We are hoping to change all that by talking.”

The confessional mood encouraged by memoirs and blogs, as well as the self-help advocacy movement in mental health, have deepened the understanding of bipolar disorder and schizophrenia.

It’s the stigma attached to mental illness that rings true. There’s been more than a few people whom we’ve heard say things like “he’s nuts!” or “what’s wrong with that kid?” about Charlie. Certainly we strive to teach Charlie that home and the car are the safe places to do some things, but I also know that some seemingly “odd behaviors” that Charlie might do (like the curious and loud barking sound he’s been making of late) are how he communicates how he feels about being in some public situations. We try to teach him to talk and not be quite that loud, and we also hope seeing Charlie out and about might teach people that autism, too, is not a “death sentence.”

And as far as pride—I can never say enough about how proud I am of Charlie.

(But you probably already know that.)

Some interesting reviews from Toronto of Autism: The Musical which (EyeWeekly notes) offers a “real life alternative to Rain Man.” And, while I’m on the subject, two more musicals: In Brick Township, NJ, a “rock opera,” Day After Day, that is about “the daily struggles the families of autistic children face”; it’s being performed this Friday and has also been performed eight times in New Jersey, Pennsylvania and New York over the course of two months in 2004.

On a slightly different note (sorry for the unintended pun), in New York there’s Next to Normal, the city’s “first mainstream musical about manic depression.” Housewife Diana is manic-depressive and, it seems, undergoes electro-shock treatment in the course of the show (someone it seems a little off to have just written that); one supposes taht a dance of “pill-proffering pharmacologists” will not exactly enchant the “this vaccine thing is all a conspiracy between Big Pharma and the government” lobby. Notes the February 14th New York Times:

………“Next to Normal” assesses the fragmenting effects of mental illness within a family. It also, in an honored tradition of all-American hometown weepers, makes a high school dance an acid test for a central character. And the lyrics traffic in Lifetime-style buzzwords. People sing with some regularity of wanting to “begin to heal,” and they ask questions like: “Who’s crazy: the one who’s uncured? Or maybe the one who’s endured?”

Schmalzy stuff but “the uncured” and “the one who’s endured”: Those phrases resonate around here.