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.

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.

Having considered prenatal genetic testing and autism, what about the possible influence of the environment of the womb on a developing baby? An October 10th article in Slate with the provocative title of Womb Raider asks if future health problems occur during gestation:

Recently, a study of 1,044 mother-child pairs found that 3-year-olds born to mothers who gained too much weight during pregnancy had increased odds of becoming overweight. Somehow, it seemed, these women metabolically programmed their kids to get fat.

The Slate article immediately acknowledges the dangers of this particular line of thinking about children’s health:

The notion that children’s futures are foretold early in life has strong narrative appeal (consider the stories of Aladdin, the Lion King, and Harry Potter, who were all destined for greatness). Increasingly, however, even reality-based researchers and media say that events in the womb and early infancy are critical developmental opportunities with irreversible consequences when mishandled. These notions form the backbone of modern parental anxiety (heaven forbid, for example, that a mother is unable to exclusively breast-feed her newborn). More worrisome, pinning complex public-health problems, like childhood obesity, on failed gestation has a blame-the-victim undercurrent [my emphasis]. Though the supporting research is often weak, this view may encourage inaction: More support for kids, the thinking goes, might not alter the fate set in motion by irresponsible wombs.

This fall, the British Broadcasting Corp. will air War in the Womb, a documentary tracing the origins of later depression, autism, and other problems to “fetal-maternal conflict” during pregnancy.

Mothers of autistic children, and, simply, parents of autistic children know well to be wary about theories that look closely, and even very closely in certain ways, and with questions about what did an expecting mother eat? did she exercise? was she ever on bedrest? did she work and where?. The shadow of the notion of refrigerator mothers—cold and unfeeling and emotionally withdrawn women who caused their young children to become autistic—still lingers, though this theory of autism causation is widely and generally discredited.

With the National Child Study—which “will examine the effects of environmental influences on the health and development of 100,000 children across the United States, following them from before birth until age 21″—-now underway, will mothers find themselves under the limelight, and every detail of “what you did” while pregnant scrutinized?

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.