Thursday, October 30, 2014

More Than 100 Genes

The hunt to find genes that cause autism has been a long slog, one hampered by a lack of technology and families willing to be tested.
But those efforts are starting to pay off. On Tuesday, researchers at more than 50 laboratories said they had identified more than 100 genes that are mutated in children with autism, dozens more than were known before.
These are mutations that crop up spontaneously, not ones that parents pass down to their children. At least 30 percent of autism cases are caused by these spontaneous mutations, according to researchers at Cold Spring Harbor Laboratory.
One group of mutations contributes to autism in high-IQ, high-functioning boys, one study found, while another group influences autism in girls and boys with low IQ.
"There's somewhat of a mechanism difference in the genes that are being hit, and the way that gene function is being changed, "says Michael Ronemus, a researcher Cold Spring Harbor Laboratory and an author of one of the studies, which were published Tuesday inNature.
Girls are less likely to get autism than boys, and this study found that the mutations in girls affected genes that play crucial roles during an embryo's early days in the womb. Scientists think that girls are somehow protected against autism, and that it takes a heavy hit like this to cause the disorder in girls.

Tuesday, October 28, 2014

Out-of-Home Placement

The American Academy of Pediatrics has a report titled "Out-of-Home Placement for Children and Adolescents With Disabilities." The abstract:
The vast majority of children and youth with chronic and complex health conditions who also have intellectual and developmental disabilities are cared for in their homes. Social, legal, policy, and medical changes through the years have allowed for an increase in needed support within the community. However, there continues to be a relatively small group of children who live in various types of congregate care settings. This clinical report describes these settings and the care and services that are provided in them. The report also discusses reasons families choose out-of-home placement for their children, barriers to placement, and potential effects of this decision on family members. We examine the pediatrician’s role in caring for children with severe intellectual and developmental disabilities and complex medical problems in the context of responding to parental inquiries about out-of-home placement and understanding factors affecting these types of decisions. Common medical problems and care issues for children residing outside the family home are reviewed. Variations in state and federal regulations, challenges in understanding local systems, and access to services are also discussed.

"Appointments. Lots of Appointments."

The Missourian has a story on Keller Garcille of Rolla, Missouri:
Keller's diagnosis changed the Garcille family's life. Now they spend their time in waiting rooms and doctors' offices, researching autism developments and watching Keller for anything that may hint at a meltdown in the making.
"Appointments. Lots of appointments," Trevor Garcille said.
Because there are few autism specialists in Rolla, Missouri, where the Garcilles live, the family has made the Thompson Center in Columbia their primary source of care.
Every few months, the couple makes the two-hour drive with Keller for his appointments. Fortunately, the Garcille's insurance is accepted by the MU Health Care System.
"We go to Columbia because the Thompson Center is one of the best in the country. A two-hour drive is nothing when it gives him the best chance for growth," Erika Garcille said.
Since his diagnosis in April, Keller has had five assessments. That doesn't include all of the doctors' appointments and consultations for other factors, such as the influence of diet on his symptoms. In a time span of only six months, Keller has been to see one sort of doctor or another at least 14 times.
The Garcilles aren't the only ones stressed by the number of appointments they have. People and organizations that provide treatment, such as the Thompson Center, are also feeling the strain. Wait times for new patients are getting longer as the center manages an increase in the number of referrals it receives, as well as an increase in requests for evaluations.

Monday, October 27, 2014

Yet One More Risk Factor: C-Sections

Add another to the very long and always-growing list of correlates and risk factors.  The Irish Times reports:
Delivery by Caesarean section is associated with an increased risk of autism in childhood, according to a study by Irish researchers.
Children born by Caesarean section have a 23 per cent greater risk of developing autism spectrum disorder (ASD), the study to be published shortly in the Journal of Child Psychology and Psychiatry suggests.
The researchers, led by Eileen Curran of University College Cork, also look at links between Caesareans and attention deficit and hyperactivity disorder (ADHD) but the findings were unclear.
The authors urge caution in interpreting their results and say more research is urgently needed to explore the risks involved. The study is a meta-analysis of 25 previously published papers on the links between Caesarean sections and conditions such as autism and ADHD. Some showed the risk of autism after a Caesarean increased by as much as 40 per cent.
The study says it is unclear what is driving this association and whether it is causal. Children born by Caesarean section have different gut flora than those born by normal delivery, and some scientists believe this may be a factor in psychological development.

Sunday, October 26, 2014

Ignorance and Vaccines

Laurie Garrett and Maxine Builder of the Council on Foreign Relations write at The Los Angeles Times:
Since 2008, the Council on Foreign Relations has been collecting data and publishing weekly updates to an interactive map of vaccine-preventable diseases, and the map is now robust, dense with six years of data. One terrible truth stands out: Misinformation and rumors from just one persuasive voice, delivered effectively, can derail entire immunization campaigns and persuade millions of parents to shun vaccinations for their children.
...
And anti-vaccine sentiments aren't limited to the developing world. The effects of Andrew Wakefield's now thoroughly debunked 1998 Lancet study claiming links between vaccinations and autism are still being felt in the Western world, as can be seen in our interactive map. Outbreaks of pertussis in wealthy California communities, of mumps in Ohio college towns and of measles throughout the United Kingdom demonstrate the broad impact of the anti-vaccination movement.

In light of the paranoia evoked by Ebola, political and public health leaders must appreciate that not a single voice dispensing misinformation should go unchallenged. The general public has proved its inability to weigh facts accurately and reach a rational conclusion when fear clouds its judgment. Remarkably, in the case of the purported associations between autism and vaccines, the concept has gone viral in some of America's most highly educated and wealthy communities, as has unscientific advice about delaying certain immunizations to avoid “vaccine overload.
At The Daily Beast, Lloyd Grove writes of Jenny McCarthy:
McCarthy herself famously told Time magazine: “I do believe sadly it’s going to take some diseases coming back to realize that we need to change and develop vaccines that are safe. If the vaccine companies are not listening to us, it’s their fucking fault that the diseases are coming back…If you give us a safe vaccine, we’ll use it. It shouldn’t be polio versus autism.”

She came to this conclusion—and published three books on the subject—after her son Evan was diagnosed at age three with the neurological syndrome, and, by dint of sheer energy and celebrity, she became the nation’s most prominent purveyor of anti-vaxxer ideology.

Indeed, she is president of Generation Rescue, a group dedicated to the proposition that children on the autism spectrum can be cured, often by methods that depart from traditional, scientifically supported medicine.

“I am not anti-vaccine,” McCarthy insists. “I’m in this gray zone of, I think everyone should be aware and educate yourself and ask questions. And if your kid is having a problem, ask your doctor for an alternative way of doing the shots”—for example, fewer vaccination doses at the same time.

     

Saturday, October 25, 2014

Science, Information, and Trust

Chris Gunter writes at SFARI:
Anyone who has had to address the issue of autism and vaccines can vouch for the fact that simply relaying information is not enough to change someone’s behavior. The field of autism is not unique in this sense. A 2011 study found that informing people about the dangers of climate change actually lowered their perception of the risk1. Similarly, providing a scientific explanation of synthetic biology doubled the proportion of people who perceived more risks than benefits, a 2009 study found.
We have to accept that public opinion is not based on information alone. Rather, it incorporates a person’s trust for the information source and their pre-existing beliefs. This is important because it affects the types of research projects that get funded, as well as the types of treatment programs and research studies that families are willing to participate in.
John Elder Robison provided an important example in his eloquent address at the 2014 International Meeting for Autism Research. “There’s the continuing reality that lay people in the community believe that scientists want to do genetic research to eradicate autistic people,” said Robison, who has Asperger syndrome. “That may be the farthest thing from a researcher’s mind, but the fact that the public believes it is a disaster for researchers.”
...
How we communicate is also important when we try to engage caregivers in treatment plans — particularly ones that take a long time to pay off. A new study by my colleague Nathan Call and his team found that parents might place less value on these ‘delayed outcomes’ than researchers do2. In other words, simply informing them of the benefits of a behavioral intervention is not enough to keep them in the treatment program long-term.

Friday, October 24, 2014

Defying Multiple Stereotypes

A letter in Live Action News defies a number of stereotypes:
Hello, everybody. I’m 19 years old, and 100% pro-life.

I’m also an atheist.

But before you decide to stop reading this, you deserve to know a few things about me.

I was born and raised in a Catholic family. I was baptized a month old, went to Sunday school, and went to church every Sunday. Okay, I went most Sundays. I also know that there are other divisions of Christianity, as well as other religions, and I respect your spirituality, what ever it may be.

I stopped breathing twice the day I was born. They doctor didn’t think I would live very long, but I did. I have ADHD, High-functioning Autism (also known as Asperger’s Syndrome), Gastro-Esophageal Reflux Disease, a thyroid disease, and, for the first four years of my life, was born deaf. I’m not asking for your pity, I’m just letting you know.

I was a Girl Scout for 13 years, which is the max. I’ve earned the Bronze Award, the Silver Award, and I almost earned the Gold Award, the highest honor you can receive. I have even earned a religious award, as well.

With all of those things, you would think that I would be very religious, but that’s not the case. Over the years, my views have changed, and I eventually became an atheist. But what hasn’t changed is my belief that abortion is wrong. It’s completely cruel, no doubt there. Everyday I grieve for the millions of lives that have been taken by the abortion industry.

You might be wondering why I’m telling all of this to you. It’s because I’ve been needing to get this off of my chest for a while, now. So thank you for taking your precious time to listen to what I have to say, and let’s keep on fighting for the lives of the unborn!