UNC questionnaire able to identify children at-risk of autism in first year of life!

I was quite excited today when I read Catherine Pearson’s article in the Huffington Post’s about a group of researchers at the University of North Carolina School of Medicine who developed and tested a questionnaire that can, apparently, pinpoint with some accuracy children at-risk of an autism spectrum disorder as early as their first birthday.

As Pearson suggests in her lead paragraph about the research, such early knowledge is crucial for early intervention programs. And, let’s face it, there is already plenty of evidence that the earlier the intervention the better!

Essentially then, the UNC study is about a 63-item questionnaire that some 699 parents completed at the time their child was one year of age. Assuming the 699 parents were referring to an equal number of children (as opposed to twins), 31% of the affected children that were shown to be at risk of an autism diagnosis at age one had that fact confirmed at aged three.

Similarly, 85% of the children that were shown to be at-risk for an autism diagnosis at age one had some type of developmental disability identified by age three. Meaning, that the majority of children who showed at-risk behaviours in the first year of their lives were in fact at-risk and in line for some type of early intervention programming.

Yes, as Pearson points out in her article, there are professionals who feel that the results of this and other questionnaires are only indicators, not a diagnosis. Plus, there are those who worry about false positives and false negatives. But as both a former professional in a similar field of research and a parent of a child (now an adult) with an autism spectrum disorder (PDD-NOS), some indicators at aged one are certainly better than none.

The lead author of the UNC study is Lauren Turner-Brown while the rest of the team (who actually developed the questionnaire) are identified as Grace Baranek, Linda Watson, Elizabeth Crais and J. Steven Reznick from PEARLS (the Program for Early Autism, Research, Leadership and Services, also at UNC).

Without a doubt, good stuff!

Endnotes:

(1) I have e-mailed the UNC team’s media contact for more details on the questionnaire as I would like to take a look at the 63 questions and see if any of them could have identified the behaviours my son exhibited in the first year of his life (back in 1965/66).  If it can, it would simply be further proof that both foresight and hindsight validates the questionnaire.

(2) I worry about potential Catch 22 situations.  An autism spectrum disorder is very difficult to pin down until a child is at least three years of age. Which means, if parents cannot access early intervention programs until a formal diagnosis, they cannot access help for their child when he or she is between the ages of one and three.  Which is why a questionnaire like the UNC one is so exciting — if it could be used as a pre-diagnosis validation in order to access ABA?

Study claims preemies have a higher risk of autism

During the last couple of days, the media have been reporting that, according to a recent study, babies born prematurely (preemies) have a higher incidence of autism. The claim, published in the Journal of Pediatrics, and communcated by lead researcher, Jennifer Pinto-Martin of the University of Pennsylvania, is that five out of every one hundred babies born less than four and a half pounds were eventually diagnosed with autism.

My reaction? Is it the lower birth weight, the fact the babies were premature or some other variable, such as a lack of oxygen, that is the risk? As Dr. Karl Kuban, Chief of Pediatric Neurology at the Boston Medical Centre says: “Is it being born early that’s leading to the problem, or is it that being born early and having autism share a common risk? We don’t know.”

My own son, for example, who is now age 46, was nearly 9 pounds when he was born and nearly two weeks late. Plus, the birth process was traumatic for us both. And, yes, he has an autism spectrum disorder. So, was it the large birth weight, the fact that he was late or the difficult delivery. Or, was it none of the above and genetic? As Dr. Kuban says: “We don’t know.” As though parents of preemies don’t have enough to worry about!!

Endnote: Here is the latest issue of the Journal of Pediatrics which does not show the current study. In fact, even when I searched under the lead researcher’s name, all I could find was an article on this topic dated 1998. However, with a little digging, I was eventually able to find a link via ParentCentral.ca. Here, for example, is the study in question in the Journal of Pediatrics, a submision that was accepted by the Journal on July 20th, 2011.

Autism is treatable? More on ARI Conference at Las Vegas

As many autism activists know, there is a conference currently underway in Las Vegas (October 13-16). One of the main topics is that autism does not have to be a lifelong static disorder. Here are a few paragraphs from Market Watch:

As autism reaches epidemic proportions in the United States, science is challenging the traditional view of autism as a static, lifelong disorder. The Fall 2011 ARI Conference is a resource for parents, families, caregivers, educators, scientists, healthcare practitioners and other experts who will share information aimed at improving the quality of life for children and adults diagnosed with ASD, as well as that of their families.

‘ARI is committed to empowering the autism spectrum disorders (ASD) community with science-based solutions for treating autism,’ said Dr. Stephen M. Edelson, pioneer, researcher and director of the Autism Research Institute. ‘An appropriate medical approach, implementing dietary and lifestyle adjustments, is proven to have significant impact for many with ASD. In the context of a growing incidence of the disorder–and considering that the standard ASD treatment is pharmaceutical–favoring an encompassing medical approach cannot be overemphasized.'”

So, while the notion that some types of autism  spectrum disorders are treatable will no doubt be good news for many. For others, it could give false hope.  For example, my now 46 year-old son showed tremendous improvement in his 20s following a decade of behaviour modification and special diets, although his negative autism behaviours never completely disappeared — which explains why he was never able to keep a competitive job longer than a couple of weeks. However, in spite of being diagnosed with PDD-NOS (Pervasive Developmental Disorder), he is a very friendly and warm person by nature, although he still cannot be touched or hugged and his inability to perceive cause and effect has adversely affected his life, particularly when it comes to finances and understanding social cues.

Then, there is the hand flapping and hand biting. Not long ago he was watching a program on TV and got so excited that he wasn’t even aware that he was flapping one hand while biting the other. In fact, he bit the one hand so hard, he broke a front tooth, leaving only the root. Surgery was necessary to remove the root pieces of course, and we arranged for a partial. But, the hand biting was indicative that in his 40s, some of his earlier obsessive compulsive behaviours had returned.

However, the good news is that he is living independently with his wife (who has intellectual and physical disabilities) and with community supports they can cope. His wife is totally dependent on him (for grocery shopping, housework and taking her to medical appointments) and that seems to give him the stability he needs to go day-to-day. I still worry about when my husband and I are no longer here but are thankful that he now has a financial trustee and there is a dedicated community agency working with both of them.

In other words, while it is great news that some children and adults who have been diagnosed with an autism spectrum disorder can be helped with ongoing ABA treatment programs, exercise and vitamin regimes, it would be wrong to go back to the future — where the blame for autism-like behaviours is put on the parents — particularly the mother. Been there and experienced that in the late 1960s and know how very demoralizing that can be for all concerned.

Genetic findings about autism factors are huge!

When I received my University of Toronto alumni newsletter this morning, I was very pleased to read a news release about the latest findings of the International Autism Genome Project, Phase 2. Although the report of the study itself can be found in a June 9th advance edition of Nature, the key points for professionals and parents from the release are:

The study substantiates the importance of genes as susceptibility factors in autism spectrum disorders. Meaning that if a child’s behaviours falls within the autism spectrum, identifying those factors could pave the way for a definitive diagnosis, which in turn should lead to treatment options.   

Some of the susceptibility genes — called “copy number variants” (CNVs) appeared to be inherited while others are considered new. The result? Dozens of new autism risk genes have been discovered, including “some that might be helpful in early diagnosis.” As Stephen Scherer (Director of the McLaughlin Centre at the University of Toronto) is quoted as saying: “We now know several of the genes involved in autism and for the first time, we are able to tie many of these genes into the same biological pathways involved in brain function….Knowing these autism genes are linked, we can begin to develop therapies to target the common pathways involved.”

Another discovery made during this phase of the project was the overlap between autism susceptibility genes and those genes that were previously thought to be implicated in intellectual disability. As such, I can’t help wonder how the developers of the next DSM-V will deal with this new information.

In 10% of the families studied (1500 in all and more than 120 scientists) they found that there were some genetic “clues” that may “assist in the early diagnosis of autism or related complications.”

So, the results of this study will, no doubt, result in a paradigm shift when “it comes to our understanding of the root causes of autism and indeed other neurodevelopmental disorders.” In fact, the Canadian researchers involved in this project say the next goal “is to set up mechanisms and processes so that all families who are interested can have access” to the same testing as the 1500 families involved in the study.

Think about that. Parents being able to take their children for DNA testing, just like any other blood test. Then, if no genetic cues or CNV’s suggesting autism or intellectual disability are found, then genetic causes can be ruled out. Meaning, that the medical profession will have no choice but to look for other possible causes, including environmental toxins and possible negative reactions to vaccines.

The crux of the matter is that, even though this study’s findings have been quietly released, its findings are huge because they are about to change the way autism spectrum disorders are currently diagnosed. Here, for example, is what Harold Doherty at Facing Autism in NB wrote on that topic in relation to these latest findings.