When I first received the press release from Lineagen, a Utah-based diagnostics company, I was tempted to pitch it. The release stated:
On January 10, LineaGen will launch a new genetic testing service for the early diagnosis of autism and other developmental disorders. Early diagnosis and intervention is crucial for increasing a patient's chances for a normal life. Autism is typically diagnosed around age five, whereas LineaGen's new service is capable of helping diagnose autism as early as 18 months.
As most people interested in autism know, there is no "autism gene." In fact, researchers have come up with a wide array of genetic differences, some inherited and some unique, which may (or may not) be among the causes of autism. And while we know that certain rare genetic disorders can cause autism, at present those disorders (including Fragile X) all put together, plus all known environmental causes, explain only 15% of diagnosed cases of autism. So what in the world could this company have to offer that we might need?
Nevertheless, since they offered, I said I'd speak with their president, Michael Paul.
I'm glad I did.
The Lineagen "First Step" diagnostic test is not a scam. It does not purport to identify autism in apparently typical infants, nor do its makers claim they've found the "autism gene." Rather, the test is a "whole genome test," or chromosomal microarray, intended only for individuals (toddlers and older) who have already been identified with symptoms of an autism spectrum disorder. Its purpose is not to "prove" that the child is officially autistic (which would be impossible), but rather to scan for known genetic disorders such as Fragile X and also for spontaneous anomalies.
Paul's hope is that, through genetic screening, the percentage of children with autism of KNOWN cause will rise significantly from 15% to a possible 50%. Says Paul, "Our goal is to identify more genetic factors with a clear scientific basis of association, in order to reduce the subjective nature of current behavioral diagnosis." In addition, through genetic counseling (offered as a part of the testing package, and including a comprehensive writeup with personalized information, possible implications, and risk factors,), Lineagen hopes to provide parents with a better - though not perfect - vision of their risk of autism in a future child.
Why is it helpful to know whether your child's autism is caused by a particular genetic disorder? One reason, of course, is to identify your own risk of having another child with autism. Another is to determine your child's risk of passing on the disorder. The cause of autism, though, doesn't make much different relative to treatment. But this is changing. Just today, a press release from Novartis announced the creation of a drug specifically designed to treat the symptoms of Fragile X disorder - and, according to the release in Newswire:
The data from the early trial of 30 Fragile X patients, found the drug, called AFQ056, made by Novartis Pharmaceuticals, helped improve symptoms in some patients. Patients who had the best response have a kind of "fingerprint" in their DNA that could act as a marker to determine who should get treatment.
"This is an exciting development. It is the first time we have a treatment targeted to the underlying disorder, as opposed to supportive treatment of the behavioral symptoms, in a developmental brain disorder causing intellectual disability. This drug could be a model for treatment of other disorders such as autism," said pediatric neurologist Dr. Elizabeth Berry-Kravis, a study author and director of the Fragile X Clinic and Research Program and the Fragile X-Associated Disorders Program at Rush.
A full-genome scan may or may not be covered by your insurance - or even recommended by your doctor. But according to Paul, it is now recommended by the American Academy of Medical Genetics as a first-tier test for children identified as autistic.
To be honest, I'm considering chatting with our pediatrician about this option. Even though my son is now a teenager, I can see some significant advantages in identifying - or eliminating - possible genetic causes of his disorder.
In today's news, a preliminary research study conducted by Columbia University and other institutions found an association between closely-spaced births and autism. That is, when children are conceived less than 1-2 years after an older sibling, they are significantly more likely to be diagnosed with autism. According to the story on the ABC News site (which includes a video interview with the lead researcher):
The risk of autism among children conceived 1-2 years after an older sibling was almost double, the researchers reported.
The study focused on over 660,000 second-born sibling children born in California between 1992 and 2002. During that period, the proportion of births occurring within 24 months of a previous birth increased from 11 percent to 18 percent, according to the researchers.
"Closely spaced births occur in some part because of unintended pregnancies but also by choice, particularly among women who delay childbearing," they wrote.
The mechanism by which closely spaced pregnancies may boost autism risk remains unclear, but the authors offered two possible explanations: Autistic behaviors might be more noticeable when there's an older sibling close in age for comparison; or a biological factor, such as maternal depletion of nutrients like folate, -- important for brain development -- could put the developing fetus at risk.
It is important to note that this is a preliminary study, and while the results are intriguing, they do not provide actionable information for parents. That is, it is not at all clear WHY this association was found, or what it implies for family planning. At this point, the researchers note, there are many possible reasons for the association - ranging from older parenthood (and resulting genetic anomalies) to nutritional issues.
My son Tom is 14, diagnosed with PDD-NOS (an autism spectrum disorder). He's verbal, bright, a terrific story teller and a lovely young man, but no one meeting him for more than a couple of minutes would miss the unusual intonations of his voice, the too-young-for-his-age topics of conversation, or the difficulty with eye contact. He's quite obviously different.
Last month, Tom played a jazz solo with the middle school band in front of a packed house. And he was good. Tonight, Tom started playing with a junior ensemble for a regional symphony orchestra. He plays the clarinet, rather well for his age - and he auditioned and got in.
What did it take to get him to this place?
To begin with, when he was seven, we had to find a music teacher willing to even take on a child with autism. We searched through music schools, talked with music therapists, checked into university-based disabilities programs... and were turned down across the board. Tom's first music teacher was 21, fresh out of school, and hadn't yet figured out that it was impossible to teach a child with special needs. And so - she did. With enormous patience and creativity.
Of course, it wouldn't have worked if I hadn't attended every lesson, learned to play along with Tom, and showed him exactly what to do when he practiced.
It wouldn't have happened if we hadn't insisted that being in the "autism only" class in elementary school didn't exclude our child from band.
It wouldn't have happened if I hadn't shadowed Tom during fourth grade band practice, every Tuesday at 7 a.m., made sure he had put his instrument together, prompted him to attend to the band teacher (who'd never worked with a child with special needs), helped him find the right music, and reminded his aide (who didn't come to school that early) that the band teacher taught woodwind players at 2 pm. on Thursday. Even with reminders, it was often the case that "something" came up that seemed more important to his teachers and aide than showing up for lessons with the typically developing music students.
It wouldn't have happened if we hadn't insisted that, despite the fact that he's homeschooled AND autistic, he should be allowed to join the middle school jazz band. And it wouldn't have happened if we hadn't chauffered him to every after-school practice, gone through the music with the band director, and marked up every piece of music to be sure he could play it.
It wouldn't have happened if we hadn't enrolled him in band camp, having explained his autism to the camp director, the woodwind teacher and the senior-high counselors.
It wouldn't have happened if we hadn't searched the area for just the right advanced teacher - a fabulously talented professor of music with a background in teaching students by ear.
It wouldn't have happened if I hadn't picked up the paper as I do every week, and noticed that auditions were going on - even though we'd asked everyone who'd worked with our son to keep their eyes open for opportunities that might be right for him.
It wouldn't have happened if Tom had balked at auditioning, or had had a hard time playing a new piece of music in a new place in front of new people.
It most certainly wouldn't have happened if the people who know Tom well didn't believe that he had musical talent, or the ability to be part of a typical group of advanced instrumentalists.
And it probably would never have happened if we hadn't moved to a smaller town, in a smaller community, where music is valued - but competition is relatively low key.
We're nowhere near the end of our journey, but we know we've reached a point where, at least in one area, our son has been fully and truly included.
No matter how you slice it, it hasn't been an easy process for Tom to get where he is today - and there's a long way to go. Yet we are a middle class, educated couple with the ability to be flexible about our time and our money. I have the advantage of knowing a great deal about autism and inclusion, and the experience of having started up a few inclusion programs in my time. Despite all our advantages, looking back, I realize that both my husband and I have spent untold hours working just to help our son get to the most ordinary level of success.
The truth is, community inclusion even for high functioning children with autism is no cake walk, and it's not for the faint of heart. It can take multiple attempts, and years of hard work.
Is it worth it? In our opinion, there's really no question. It's worth every minute. Because, in the long run, finding what you love, doing it well, and earning the respect of your community is what life is all about. And that's what we want - for our son, for our daughter, and for ourselves.
Yet another story has come out debunking a notorious 1998 study by Dr. Andrew Wakefield which linked the MMR vaccine with autism. According to just about everyone on the internet (with a few key exceptions) Wakefield's study was a complete fraud. There are stories in USA Today, The New York Times, The Baltimore Sun, NPR and many other international outlets, all citing the British Medical Journal (BMJ) and a report by journalist Brian Deer. The gist of the story, as reported in USA Today, is pretty damning:
Now, the BMJ reports that Wakefield, who was paid more than $675,000 by a lawyer hoping to sue vaccine makers, was not just unethical -- he falsified data in the study, which suggested that children developed autism after getting a shot against measles, mumps and rubella.
In fact, the children's medical records show that some clearly had symptoms of developmental problems long before getting their shots, BMJ says. Several had no autism diagnosis at all. Wakefield could not be reached by USA TODAY.
Within hours, supporters of Dr. Wakefield including the National Autism Association and Age of Autism had issued press releases reiterating support for Wakefield and his work. At the same time Dr. Paul Offit of Children's Hospital of Philadelphia, a long-time opponent of Wakefield and those in support of his opinions on vaccines and autism, was quoted as saying ""He made an extraordinary claim with no extraordinary evidence...Children have suffered, and have been hospitalised and have died, because of the false notion vaccines cause autism."
No doubt this most recent set of debunkings will be a nine days wonder - and a source of much blogging. But to be honest, I don't think it changes a thing.
Do you have an opinion on this issue? Express your thoughts by clicking on either or both of the links below:
Learn More About Andrew Wakefield, His Work and Its Aftermath
