Questionnaire can help with early identification of autism

A growing body of research suggests that early intervention is important for helping children with autism spectrum disorders. But early identification, which is critical for early intervention, has been somewhat elusive.

A new questionnaire, designed to be completed by parents in the pediatrician’s office during the one-year-old well-baby checkup, may help. Researchers from the University of California at San Diego had pediatricians distribute the 24-question survey to parents of 10,479 babies. The test identified 1,371 babies as potentially having autism or other developmental delay. The researchers tracked 184 of those, of whom 32 were subsequently were found to have autism spectrum disorder, 56 had language delays, 9 had developmental delays and 36 had other problems.

The survey is promising, but there was one challenge: 25% of the babies identified as potentially having developmental delays ended up on a normal development path. Such a high false-positive rate could result in a lot of unnecessary anxiety for parents.

The New York Times recently highlighted the research, which was published in the Journal of Pediatrics:

Although many pediatricians don’t screen 1-year-olds for autism, there is a growing body of evidence suggesting early intervention can be effective, said Dr. Karen Pierce, the lead author of the study — published Thursday in The Journal of Pediatrics — and assistant director of the Autism Center of Excellence at University of California, San Diego.

The checklist poses simple questions, like whether a baby responds to his or her name, whether parents can tell when an infant is happy or upset, and whether a child engages in pretend play with dolls or stuffed animals.

PBS NewsHour presents “Autism Now”

The PBS NewsHour just completed a 6-part series about autism. Causes, prevalence, research, funding: it’s all in there.

All six parts, as well as extended interviews with some of the experts are available on the NewsHour Web site, where you can also reserve a DVD of the series.

The neural signatures of autism

We recently posted about research at the University of Utah that used MRI to uncover communication deficiencies in the areas responsible for motor control, social functioning, attention, and facial recognition in individuals with autism. The thought is that MRI scans that could identify these deficiencies might serve as a diagnostic tool, thereby enabling earlier and more targeted interventions.

On the heels of that study comes new research from Yale University, published in the Proceedings of the National Academy of Sciences that looked at the neural characteristics of children with autism, their unaffected siblings, and typically developing children. From Science Daily:

The team identified three distinct “neural signatures”: trait markers — brain regions with reduced activity in children with ASD and their unaffected siblings; state markers — brain areas with reduced activity found only in children with autism; and compensatory activity — enhanced activity seen only in unaffected siblings. The enhanced brain activity may reflect a developmental process by which these children overcome a genetic predisposition to develop ASD.

The authors were particularly intrigued by the distinct brain responses exhibited by typically developing children and the unaffected siblings of children with autism because their behavioral profiles are so similar.

Like the authors of the University of Utah study, the Yale researchers are hopeful that the study the study could eventually lead to earlier and more accurate autism diagnosis.

Technology as a tool

Technology can make a lot of things easier and more efficient: email is faster than the US Mail, and shopping online doesn’t require hunting for a parking space. In the case of the Fast ForWord programs, technology actually enables something that isn’t otherwise possible: it can be used to modify to a consonant sound that a student is struggling to process and make it longer and louder. Go ahead: just try to make the /b/ sound in the word “bat” longer. It isn’t going to happen without some technological assistance.

The NY Times highlights technology – specifically the Apple iPad – that, while not specifically designed for those with disabilities, is nonetheless helping them communicate.

The article highlights Owen, a 7 year old with a motor-neuron disease that leaves him without the strength to maneuver a computer mouse. But he got the touch-screen iPad to work on his first try. The article also describes iPads used to train basic skills to children with autism, and, loaded with a speech-to-text application to give those with disabilities a voice.

One of the major advantages of the iPad is its relatively low price compared to specialized computer equipment that individuals with disabilities have used in the past. And, according to one interviewee, the “cool” factor of the iPad makes it a less stigmatizing tool in social situations.

First Direct Evidence That ADHD Is a Genetic Disorder

Some of this DNA stuff is a little beyond us, but we’re intrigued by the gist of a new study, published in the journal Lancet and highlighted on Science Daily: there is now “strong evidence that ADHD is a neurodevelopmental disorder — in other words, that the brains of children with the disorder differ from those of other children.”

The study, conducted at the University of Cardiff, found that children with ADHD were more likely to have small segments of their DNA duplicated or missing than other children. It’s incredibly important data for parents of children struggling with ADHD:

“We hope that these findings will help overcome the stigma associated with ADHD,” says Professor Anita Thapar. “Too often, people dismiss ADHD as being down to bad parenting or poor diet. As a clinician, it was clear to me that this was unlikely to be the case. Now we can say with confidence that ADHD is a genetic disease and that the brains of children with this condition develop differently to those of other children.”

We posted recently about a new book written by an investigative journalist who received her own ADHD diagnosis not long after her son was diagnosed with the disorder. For her and many other parents, the following is probably not a surprise:

The condition is highly heritable — children with ADHD are statistically more likely to also have a parent with the condition and a child with an identical twin with ADHD has a three in four chance of also having the condition. Even so, until now there has been no direct evidence that the condition is genetic and there has been much controversy surrounding its causes, which some people have put down to poor parenting skills or a sugar-rich diet.

We were also intrigued by the finding that the genes responsible for a tendency towards ADHD have also been implicated in other neurological conditions, including autism:

There was also significant overlap between CNVs identified in children with ADHD and regions of the genome which are known to influence susceptibility to autism and schizophrenia. Whilst these disorders are currently thought to be entirely separate, there is some overlap between ADHD and autism in terms of symptoms and learning difficulties. This new research suggests there may be a shared biological basis to the two conditions.

The importance of the research is well-summarized by Dr. John Williams, Head of Neuroscience and Mental Health at the Wellcome Trust, which helped fund the University of Cardiff study: “Using leading-edge technology, [researchers] have begun to shed light on the causes of what is a complex and often distressing disorder for both the children and their families.”

Parents for whom this is interesting stuff might also be intrigued by another recent post related to technology-based screenings for ADHD.

Be Amazing Learning provides research-based solutions that build brain processing efficiency in critical cognitive skill areas, including working memory, sustained attention and auditory processing. Our programs can be effective interventions for students struggling with ADHD. For more information, visit our Web site.

Using MRI to diagnose autism

From Science Daily: A recent study of individuals with autism at the University of Utah used MRI to study the strength of connections between the individuals’ left and right brain hemispheres. The study, published in Cerebral Cortex, indicates communication deficiencies in the areas responsible for motor control, social functioning, attention, and facial recognition.

Other than increased brain size in young children with autism, there are no major structural differences between the brains of people with autism and those who do not have the disorder that can be used to diagnose autism on a routine brain MRI. It has been long believed that more profound differences could be discovered by studying how regions in the brain communicate with each other. The study, and other work U of U researchers are doing using diffusion tensor imaging (measures microstructure of white matter that connects brain regions), reveals important information about autism. The advances highlight MRI as a potential diagnostic tool, so patients could be screened objectively, quickly, and early on when interventions are most successful. The advances also show the power of MRI to help scientists better understand and potentially better treat autism at all ages.

“We still don’t know precisely what’s going on in the brain in autism,” says Janet Lainhart, M.D., U of U associate professor of psychiatry and pediatrics and the study’s principal investigator. “This work adds an important piece of information to the autism puzzle. It adds evidence of functional impairment in brain connectivity in autism and brings us a step closer to a better understanding of this disorder. When you understand it at a biological level, you can envision how the disorder develops, what are the factors that cause it, and how can we change it. “