An expecting mother wrote this yesterday on BabyCenter:

…..more than anything else that could go wrong with this pregnancy, I am more worried about my child having autism than anything else in the world.

These causes, many reported by the popular media, and without valid evidence to back them up, are listed:

- Vaccines, especially with thermisol, the kid getting them all at once (flu shot, MMR)

- Smelling cleaning products while pregnant (Lysol, etc.)

- Advanced maternal age

- Having autism in your family

- Heat, hot baths, hot showers

- Worrying and stressing

- Rainy climates

The UC M.I.N.D. Institute’s MARBLES (rs of Autism Risk in Babies—Learning Early Signs) seems to be referred to, though I don’t think the “smelling” of cleaning products during pregnancy is specifically mentioned. The study linking rainy climates to autism rates is noted—a study about which there’s doubt as to “whether the paper deserved to be published and reported,” as stated in the Times Online. Older parents, fathers as well as mothers, have been linked to autism, and there’s a number of studies for genetics, for autism being “in the family.”

But “worrying” and “stressing” and hot showers and baths?

Will we next be hearing about whether worrying about autism be linked to causing autism?

Yes, the numerous claims that vaccines can be linked to autism have been gnawing away at the fears of parents-to-be even though vaccinations do not cause autism.

Hope that the expecting mother on BabyCenter might, instead of fearing autism, learn about it, learn that there’s a lot that you can do to help a child, and know that life raising an autistic child—-life raising a child—-isn’t what the popular media makes it out to be. It may be a different parenting adventure than one might think—for us, for sure, it’s been full of much that’s unexpected, and more goodness and love than I could ever have bargained for.

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.

Gluten-free diets are now being used to address conditions ranging from autism to ADHD. As noted in this week’s Newsweek, those with allergies and pregnant women are also saying they feel better on what’s come to be known in autism circles as “the special diet” or “the diet.” (Go here, here, and here to read some of our experiences with “the diet”; Charlie now eats wheat, though not dairy.) Is gluten-free the new hope, or is it more dietary hype, with Americans spending $2 billion a year on gluten-free products?

The UC Davis-M.I.N.D. Institute’s MARBLES study ( Markers of Autism Risk in Babies’ Learning Early Signs) is following some 100 women who have a biological autistic child and who are pregnant, or who are planning on becoming pregnant, to investigate possible biological and environmental agents that children are exposed to prenatally and post-partum. It seems that maternal health during pregnancy—what expecting mothers do or do not do—will remain an area of scrutiny in the search for autism’s causes: A study published in the December Neurology shows that children whose mothers took Epilim, an anti-epileptic drug, during pregnancy were seven times more likely to develop autism, as compared with children whose mothers did not take such a drug, as reported in Reuters. Epilim is known generically as Valproate and is sold as Depakene in the US. Previous studies have reported an association between fetal valproate syndrome and autism.

More children with Down’s Syndrome are being born in the UK, according to today’s Times Online.

Widespread screening was introduced in 1989, and led to a steady fall in new instances of Down’s syndrome. From 717 babies born with Down’s that year, the total decreased each year, to 594 in 2000.

During the next six years the birth rate for children with Down’s rose by 15 per cent, reaching 749 in 2006, the most recent year for which figures are available from the National Down Syndrome Cytogenetic Register.

It’s noted that, while most women who receive a prenatal diagnosis of Down’s Syndrome choose not to have the child, “many are now deciding to give birth.”

Carol Boys, chief executive of the [Down’s Syndrome Association, had not expected the rise in Down’s syndrome births. “It seems to show that more parents are thinking more carefully before opting for prenatal screening and termination – that being born with Down’s syndrome is being seen in a different light today,” she says on the programme.

“When I and others had our babies it was a very different world . . . Now there is much greater inclusion and acceptance, with mainstream education having a huge role. We think this plays a part in the decisions parents make – there’s even been a baby with Down’s syndrome on EastEnders.”

A little positive representation of autism, of disabilities and human diversity, of life raising a disabled child—can go a long, long way.

Would I have had Charlie, if (while pregnant with him) I had known that he’d be autistic?

Yes—you betcha, indeed.

MARBLES stands for Markers of Autism Risk in Babies—Learning Early Signs. The study investigates “biological and environmental triggers that children are exposed to prenatally and post-partum”: Some 100 women who have a biological autistic child and who are pregnant, or who are planning on becoming pregnant, are participating in MARBLES, which began in 2006. Researchers from the UC Davis-M.I.N.D. Institute are collecting blood, urine, hair, saliva, and breast milk (if the mother is breast feeding), as well as dust from participants’ houses, and mothers are interviewed and medical records examined. It’s noted that MARBLES is “unique” because

follows mothers before, during, and after their pregnancies, allowing us to obtain information about the pre-natal and post-natal environment to which the baby is exposed.? By gathering information in real-time we increase the accuracy of the information collected and will be able to better understand and observe the biological and behavioral changes that may occur in the mother and/or baby throughout the pregnancy and early childhood period.

The November 22nd InsideBayArea opens by suggesting that people’s homes “might reveal clues for solving one of the biggest mysteries of modern medicine: the cause of a rapid rise in autistic children.” Besides collecting dust with a “special vaccuum,” researchers are also noting what household cleaners soaps, beauty products, electronics, and types of paint, each family uses. And, when Danielle Bell of Danville—whose almost 4-year-old son Jake is autistic—had her now 8-month-old daughter, Layla, researchers were present and “took for laboratory analysis the umbilical cord, a portion of the placenta and what is known as meconium, or the baby’s first bowel movement.”

In the search for a cause, for some of us, it could be said that our homes indeed contain “clues” about autism, in our very selves, in our genes, and not so much is to be revealed by analyzin the dust or the types household cleaning products.

Aside from discovering our housekeeping habits……..

Through laboratory experiments with rats, Prof. Marta Weinstock-Rosin of the Hebrew University of Jerusalem School of Pharmacy is studying how maternal stress during pregnancy can lead to developmental and emotional problems in their offspring. From a press release, which notes that some of the “unfortunate consequences” that children can develop are “slower development, learning and attention difficulties, anxiety and depressive symptoms and possibly even autism.”

Weinstock-Rosin has been able to show through her laboratory experiments that when rat mothers were subject to stressful situations (irritating sounds at alternating times, for example), their offspring were later shown to have impaired learning and memory abilities, less capacity to cope with adverse situations (such as food deprivation), and symptoms of anxiety and depressive-like behavior, as compared to those rats in control groups that were born to unstressed mothers. All of these symptoms parallel the impairments that have been observed in children born to mothers who were stressed in pregnancy, she points out.

Further experiments by Weinstock-Rosin and her students have shown the crucial effect of excessive levels of the hormone cortisol that is released by the adrenal gland during stress and reaches the fetal brain during critical stages of brain development. Under normal conditions, this hormone has a beneficial function in supplying instant energy, but it has to be in small amounts and for a short period of time. Under conditions of excessive stress, however, the large amount of this hormone reaching the fetal brain can cause structural and functional changes. In humans, above-normal levels of cortisol can also stimulate the release of another hormone from the placenta that will cause premature birth, another factor that can affect normal development.

Prof. Weinstock-Rosin will present her research at a conference, “Long Term Consequences of Early Life Stress,” to be held at Mishkenot Sha’ananim in Jerusalem on October 29 and 30.

Parents of autistic children may, I suspect, may approach these findings with some hesitation, due to older (and widely discredited) theories of autism causation, such as the “refrigerator mother” theory and the more recent, and simply inaccurate and offensive, comments by Denis Leary about “laziness” in parents with autistic. (Leary’s been blaming his Irish-Catholic parents for his controversial remarks—but perhaps he ought to cease blaming others and listen to his own words.)

And I should note, the press release about Prof. Weinstock-Rosin’s study ends with the phrase

Husbands take note!

1st born child—-older mother—-older father: Such a child is three times more likely to develop autism than third- or later-born offspring of mothers who are 20–34 years and fathers who are less than 40 years old, according to a study published in the October 21st American Journal of Epidemilogy (full text can be accessed here and this is a PDF file; another summary at the Daily Telegraph). Researchers reached these conclusions after studying records for more than 253,347 children born in 1994 of whom 1,251 have autism.

Researchers note that there has been a decline in average family size in recent decades:

The results of this study raise the question of whether some portion of the recent rise in ASD prevalence may be linked to recent trends in parental age and family size. A further question is whether a modest increase in prevalence associated with advancing parental age and low birth order may have contributed to a greater awareness of ASD and, in turn, increases in measured prevalence. The tendency for older parents of firstborn children to have higher levels of educational achievement and resources than other parents could further contribute to increased awareness and an expansion of the diagnosis of ASD.

While it’s not clear how advanced parental age might contribute to increased risk for autism, the researchers note that the “probability or selection of [gene] mutations increases as men age”; in older mothers, “age-related chromosome changes, pregnancy complications, or environmental exposures during pregnancy” are possibilities. Also noted is the potential role of infertility treatments or assisted reproductive technologies,” the use of which has increased recently and among “women and men of advanced reproductive age,” and, too, the “psychopathology or behavioral traits of parents that may result in both delayed parenthood and genetic susceptibility to autism in offspring.” Two other studies that have found increased risk of autism in first-born children are cited.

Charlie is our first-born (and our only child). I was between 20–34 years old when he was born and Jim was less than 40 years old.

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.

Currently, there’s no prenatal genetic test for autism. Long ago (as in “around the time I first started writing this blog”) I referred to such testing as “fighting word“: While some would welcome the notion of knowing that a child-to-be would have a disability, others have been quick to point out the possibility of people choosing to abort a fetus if a disability were detected.

In the October 13th Babble, an online web community for a “new generation of parents,” Karen Dempsey writes about Choosing (a) Life: They said our baby would have Down’s; we said we understood. We had no idea. Having conceived her second child after a year of infertility treatments, Dempsey was concerned that the “risks of amniocentesis outweighed the chances it would detect a problem.” During an ultrasound, the radiologist detected other possible signs of Down Syndrome (echogenic intracardiac focus, or EIF; the size of the baby’s nose). Dempsey and her husband knew they were going to have their baby, no matter what. The article depicts Dempsey’s emotional state and thoughts while awaiting her daughter’s birth:

One sleepless night near the end of my pregnancy, I lay in bed with my heart racing, remembering that tiny star from the ultrasound. Were we kidding ourselves, pretending we could just take things as they came? I couldn’t calm myself, though I was desperate to sleep. I tried relaxing by tightening and releasing the muscles of my body one by one, beginning at my toes. I should pray, I thought. I should pray for her. But what did that mean? She was there, fully formed inside of me. I could feel her knees and elbows, her stubborn round head. I didn’t believe in a prayer that would change her genetic makeup; she had Down syndrome, or she didn’t. And so what would I be asking for, a different baby? I’d already chosen to have this one. I finally found peace, and sleep, with the thought, She is who she is. Already, she is who she is, and she is mine.

Liddy does not have Down’s Syndrome, but she has a number of medical conditions: a heart murmur caused by a congenital heart defect, swollen kidneys, an elevated white blood cell count, severe gastroesophogeal reflux disease. Dempsey writes of what testing could have told her and what it could not have:

An amniocentesis would not have predicted Liddy’s complications, or prepared me for the realities of having a sick child. Caring for Liddy challenged my marriage, my family relationships, my friendships and my mental health — my very way of being in the world. John and I were naïve. We would learn, through Liddy, the awe-inspiring breadth of medicine’s understanding, as well as the frustration and grief of its limitations — and of our own.

There’s no question in my mind that we were going to have Charlie when I was expecting, “whatever” he might have. Dempsey’s experience seems to me a potential harbinger of questions that parents may find themselves facing should more prenatal tests be developed, including these tough questions:

Will medicine suggest that any and every variation from absolute normalcy is pathological?

How can we draw lines between disabling diseases such as severe autism and more mild differences such as Asperger’s, which may give society some of its greatest achievers?

Will parents have complete say over the kind of children they want to bear?

And what sorts of messages will doctors and genetic counselors convey when talking about risks, probabilities and choices that involve not life and death but personality and sociability, genius and geekiness?

Tough questions and big questions. Here’s two perspectives, one from a scientist and another from the father of an autistic daughter.

For myself, I would to some extent have appreciated knowing Charlie’s diagnosis as early as possible. Perhaps it’s from the memory of all my wondering, worries, and confusion during Charlie’s babyhood, when subtle things said “things are different,” but nothing stood too much out, and no one wanted to say “maybe he needs to be evaluated by a specialist.” On the other hand, before there might be such a test, it seems all the more imperative to—like parents of children with Down Syndrome—present a hopeful message out there about autism, with an emphasis on how it’s not a dreadful death sentence, and that we know a lot more and can help a child greatly.

When I tally up all the things that have happened to Jim and Charlie and me since Charlie was diagnosed, it’s a rich harvest of experience, with some really tough and awful times (because society and communities did not know what supports and services to provide him with to thrive) and some so good, you can’t imagine life without them.

Following up on the harvest theme, today is “harvest theme day” at the b5media Health and Wellness channel. Wishing you a day of plenty and of sunshine, and of good times with those who walk with you.