Happy 2009!

We’re leaving tonight on the red-eye to go back from the Bay Area to New Jersey so, in the interest of being able to spend more time in the California sunshine with my guys and my parents, and since it is, indeed, 2009, a few more highlights from 2008.

August means one thing in my household—-two weeks at the beach, at the Jersey Shore. Not surprisingly, it was still impossible to avoid talk about vaccines. A new clinical trial of the GFCF diet was announced. While people have strong disagreements about the “right” of parents to vaccinate or not, everyone agreed that the use of “retard” in the movie Tropic Thunder was unncessary.

Charlie started middle school in September and, by October, he was deep into middle school blues, and Jim and I found ourselves back into the old familiar advocacy mode, including meetings with teachers present and past, Charlie’s case manager, ABA consultants, school district administrators (but not, yet, “legal counsel” of the sort this family in Montgomery County (Virginia) has had to take).

Also in September: A 13-year-old autistic boy treaded water for 15 hours off the coast of Volusia County in Florida, until he was found the next day.

Another study showed that the MMR vaccine does not cause autism.

And, with Election Day nearing, the choice of Alaska governor Sarah Palin—whose youngest son, Trig, has Down Syndrome—-as Senator John McCain’s running mate got the (Special Needs) Mommy Wars going again.

In October, I (former warrior mom that I am) was on a Science Blogs book club panel writing about a newly published book, I get a lot of hate mail”: Autism’s False Prophets by Paul Offit. (And I’ve not been feeling that I need beware Jenny McCarthy and her so-called angry mom-mob; I know that someone’s watching over me.)

More to the point than “debates” about vaccines and autism was the passage of the mental health parity bill.

And then, in the middle of October, was the McCain-Obama debate in which McCain apparently confused Down Syndrome and autism, and after which I was interviwed on Newsweek about the candidates.

Around the same time, Denis Leary did a Michael Savage, Charlie seemed to grow taller every week, and David Kirby exonerated thimerosal, and as quickly said he hadn’t.

November brought a new theory about autism and genetics, another suggestion for identifying autism in infants (”strange play“), and more speculation about autism and schizophrenia as the same. A mandatory autism registry was proposed in New Jersey; researchers began to look for autism’s causes at home; and I attended the November 21st meeting of the Interagency Autism Coordinating Committee (IACC), at which the draft of the Strategic Plan was discussed.

December, this past month, began with Autism Twitter Day, organized by Bonnie Sayers; an exchange about some dangerous ideas about autism, and some events concerning autistic rights, from an autistic girl in Wisconsin becoming a Brownie after being asked not to return to a special needs Brownie troop, to calls for the inclusion of autistic individuals on the boards of autism organizations. (This letter states why.)

And some final thoughts as 2008 ended: What would you like to see in autism legislation? (Something besides insurance coverage for specific therapies.) And isn’t it time for vaccine talk detox? (Yes.)

So farewell to 2008 and onward into the new year, which I suspect holds some more changes all the time for Charlie, and which holds a big one for me, too—-but more on that tomorrow, once we’re back home in Jersey.

What goes around, comes around.

1952. The DSM-I says this about “000-x28 Schizophrenic reaction, childhood type”:

Here will be classified those schizophrenic reactions occurring before puberty. The clinical picture may differ from schizophrenic reactions occurring in other age periods because of the immaturity and plasticity of the patient at the time of onset of the reaction. Psychotic reactions in children, manifesting primarily autism, will be classified here. [via Unstrange.com; my emphases]

And in 1968, in the DSM-II, here is the definition of “295.8 Schizophrenia, childhood type”:

This category is for cases in which schizophrenic symptoms appear before puberty. The condition may be manifested by autistic, atypical and withdrawn behavior; failure to develop identity separate from the mother’s; and general unevenness, gross immaturity and inadequacy of development. These developmental defects may result in mental retardation, which should also be diagnosed.[via Unstrange.com; my emphases]

Before autism was “autism” as we talk about it today, and before there was such a thing as “autism spectrum disorder,” autism was “childhood schizophrenia.” Now bring up autism and schizophrenia in the same conversation and you’ll get a heated response. Back in February, Dr. Nancy Minshew, Director of the University of Pittsburgh’s Center for Excellence in Autism Research, was quoted in the Pittsburgh Post-Gazette as saying that, in the past, some autistic children may have been mislabeled as schizophrenic, and placed in state hospitals or institutions; some (mis)interpreted her comments as somehow as suggesting that autistic children were schizophrenic, when Dr. Minshew was noting the differences in how we once classified and spoke about autism, in contrast to how we do today. Drawing on a new theory about autism and genetics, a November article suggested that autism and schizophrenia are the same disease.

A review of the research literature by developmental psychologist Annemie Ploeger suggests that autism and schizophrenia share a common origin. The review is from Ploeger’s doctoral thesis, “Towards an integration of evolutionary psychology and developmental science: New insights from evolutionary developmental biology” and is summarized in the December 16th Science Daily. Ploeger looked at whether there was a connection between autism and schizophrenia by focusing on the first month of pregnancy. She noted certain “physical abnormalities” in autistic children: “protruding ears,” “peculiar toes,” “a large head and intestinal problems.”

Ploeger’s research reveals that in the period between 20 and 40 days after fertilisation, the embryo is highly susceptible to disruptions. In this period, early organogenesis, there is a lot of interaction between the different parts of the body. If something goes wrong with a given part of the body, it greatly influences the development of other parts of the body. As people with schizophrenia and autism frequently have physical abnormalities to body parts formed during early organogenesis, Ploeger concluded that the foundation for these psychiatric disorders is laid very early during pregnancy.

The existence of a relationship between unhealthy behaviour during pregnancy and the subsequent development of schizophrenia and autism in the child was already known. However, Ploeger’s hypothesis that the early organogenesis stage is the most critical, is new. Ploeger bases her hypothesis on an extensive study of scientific literature in this area. She often had to make use of related studies; although a lot of research has been done into prenatal influences on the development of schizophrenia and autism, little is known about the influence that the period between 20 to 40 days after fertilisation has.

From this description, it’s not clear what sort of factors—the mother’s genetic make-up; any environmental agents—are seen as having an effect of early organogenesis, though “unhealthy behavior during pregnancy” of course suggests that the mother’s activities and behaviors are particularly under consideration here. Ploeger also notes that some women who took Softenon for morning sickness in the 1960s and 1970s gave birth to severely disabled children, as a result of taking the medicine: “Autistic children were born in four percent of pregnancies in which softenon was used, whereas normally this figure is 0.1 percent.”

This study, along with another noted on Monday about paternal age and children’s health, is focusing on how parents’ behaviors and decision (taking certain medications, having a child when one is older) can possibly have an impact on a child being autistic or not; on a child being “healthy” or not—-I’ll end by noting that I, and some other friends who have autistic children, followed all the recommendations about “how to have a healthy pregnancy” exactingly, and our husbands were younger than 40.

What comes around, comes around.

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.

Included in the economic bailout bill signed by President Bush last Friday, October 3, was a new law requiring equal coverage of mental and physical illnesses. Go here to read H.R. 1424, SEC. 512. MENTAL HEALTH PARITY, Subtitle B–Paul Wellstone and Pete Domenici Mental Health Parity and Addiction Equity Act of 2008.

The October 5th New York Times quotes Dr. Steven E. Hyman, a former director of the National Institute of Mental Health, as saying that “it was impossible to justify insurance discrimination when an overwhelming body of scientific evidence showed that ‘mental illnesses represent real diseases of the brain.’” More specifically:

“Genetic mutations and unlucky combinations of normal genes contribute to the risk of autism and schizophrenia…..There is also strong evidence that people with schizophrenia have thinning of the gray matter in parts of the brain that permit us to control our thoughts and behavior.”

The new law will now make is easier for people to get treatment for conditions such as depression, autism, schizophrenia, eating disorders and alcohol and drug abuse. Employments and group health plans have set limits to hospital stays and to the number of outpatient visits for mental health treatments, and insurers have set higher co-payments and deductibles; under the new law, these will restrictions are eliminated.

As Regan noted, a “collateral benefit” to the passage of the bailout bill.

13-year-old Austin Large has been missing since earlier this week, when he did not return from a fishing trip with his father, Eugene Large. Today’s AM 900 reports that police now believe that this may be a case of parental abduction:

Witnesses though have told police they saw the two aboard a ferry to Manitoulin on Saturday, and that they bought 2 beige t-shirts.

They were then spotted in Espanola about 4 hours later.

Police believe they may still be in northern Ontario, en-route to either Alberta or eastern Canada.

It’s believed Austin is out of his autism medication and that his father is stressed and behaving abnormally, following the break-up of his marriage.

Hoping that Austin is back home, soon.

Scientists have previously posited that autism’s cause is at the synapse. Mutations in the genes for neuroligins—which ensure that signal transitions between nerve cells function—-have been suggested as a cause of autism.  Neuroscientists at Children’s Hospital Boston have identified what is being called a “master switch” that organizes the functioning of inhibitory synapses. Synapses are the connections between brain cells and enable communication among neurons; they’re essentially for virtually all brain functions, such as memory, sensory perception, motor coordination, learning.

The “master switch” is Npas4, which is a transcription factor, a “switch” that activates or represses other genes; it regulates over 200 genes that play a role in “calming down” over-excited cells. From today’s Science Daily:

At birth, the rapidly developing brain teems with excitatory synapses, which tend to make nerve cells “fire” and stimulate their neighbors. But if the excitation isn’t eventually balanced, it can lead to epilepsy, and diseases like autism and schizophrenia have been associated with an imbalance of excitation and inhibition. The creation of inhibitory connections is also necessary to launch critical periods — windows of rapid learning during early childhood and adolescence, when the brain is very “plastic” and able to rewire itself.

Researchers bred mice that lacked Npas4; these mice appeared anxious and hyperactive as were also prone to seizures and neurological problems. Scientific American has more to say and also notes that findings such as these can be used to “identify people who are genetically at risk for neurological disorders and develop new drugs to prevent and treat them.”

The latest issue of Nature Genetics opens with an editorial entitled All in the mind about recent discoveries of de novo mutations in some cases of autism and schizophrenia. “Exceptional rigor and caution” are called for in the search for “causative variants”:

If many genes can be perturbed to produce a related set of psychiatric phenotypes, how can we establish a causal relationship? What if the visible rearrangements are the byproduct of a mutational process? Sebat et al. (Science 316, 445–449; 2007) considered that the hypothesis positing common causation of autism and CNV [copy number variant] by a “fragile genome disorder” would predict not single de novo CNV but larger numbers clustered in affected individuals. They did not find clusters of CNVs in any individual. However, this conclusion may be open to reevaluation, as existing chip-based methods assess larger CNV and the overwhelming majority of variants smaller than 10 kb may require higher-density arrays or even sequencing to genotype them.

In an excellent review on the genetics of autism, Abrahams and Geschwind (Nat. Rev. Genet. 9, 341–355; 2008) caution that “For some of the very rare, virtually unique, mutations even large sample sizes will not be sufficient to demonstrate statistical association, although the biological significance of the mutation may be clear.” To which we add our standard warning: if these disorders of mind are oligogenic and we do not have quantitative measure of the frequency and circumstances of discovery of the mutations, as well as the genomic background on which they occurred, we have only part of the picture. Incomplete notions of “biological significance”, unsupported by statistical significance, may once again lead us back into the wilderness. [my emphases]

Perhaps we’re stumbling through a wilderness of possible causes; am glad to have some guides along the way.

Go here for the July issue of Nature Genetics.

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.)

The risk of having an autistic child is doubled if a parent has schizophrenia or if a mother has psychiatric problems (depression, personality disorders), according to a study published in Pediatrics. From Reuters via WNED.org:

The study of families in Sweden with children born between 1977 and 2003 involved 1,227 children diagnosed with autism. They were compared with families of nearly 31,000 children who did not have autism. Sweden’s detailed health registry provides a wealth of data for such studies.
…..
The association between a child’s autism and mental illness in the parent was strongest with schizophrenia, and was less powerful when the mother suffered from depression or personality disorders. There was little association between autism and parental addiction to alcohol or drugs or some other types of mental illness.

It was not clear if it was significant that having a mother, but not a father, with certain mental illnesses, raised the risk of autism.

Interesting—once autism was called childhood schizophrenia.

In a new study, scientists at the University of Washington and Cold Spring Harbor Laboratories have found that rates of genetic deletions and duplications are three to four times higher in people with schizophrenia. These genetic mutations are more likely to disrupt that brain’s signaling genes, which affect brain development. Further, researchers found that “most patients have different mutations” which cause them to have schizophrenia. (While autism was once referred to as child schizophrenia, they are different diagnoses; here’s an interesting note about this at Left Brain/Right Brain.)

As today’s Science Daily reports:

Some deletions and duplications are common and found in all humans. The researchers studied such mutations that were found only in individuals with the illness, and compared them to mutations found only in healthy persons. They theorized that rare mutations found only in schizophrenic patients would be more likely to disrupt genes related to brain functioning and thus may cause schizophrenia.

The study was conducted using DNA from 150 people with schizophrenia and 268 healthy individuals. The investigators found rare deletions and duplications of genes present in 15 percent of those with schizophrenia, versus only 5 percent in the healthy controls. The rate was even higher in patients whose schizophrenia first presented at a younger age, with 20 percent of those patients having a rare mutation.
…..
The findings suggest that schizophrenia is caused by many different mutations in many different genes, with each mutation leading to a disruption in key pathways important to a developing brain. Once a disease-causing mutation is identified, other different disease-causing mutations may be found in the same gene in different people with the illness.

Thus, for most cases of schizophrenia, the genetic causes may be different.

Jonathan Sebat, assistant professor of genetics at Cold Spring Harbor Laboratory, also theorized that “some mutations probably overlap with other brain disorders, such as autism, depression and bipolarism,” as noted in PsychPort.com. Many of the DNA variants found in the study are, like those in an autism study under Michael Wigler, another Cold Spring geneticist, occur spontaneously.

The study was published on March 27th in the online version of the journal Science. PsychCentral casts a more critical eye on the study and points out that these gene mutations do not occur “in the vast majority” of people with schizophrenia (80-85% of people with schizophrenia do not have the mutations.)