Posts Tagged ‘ autism ’

Genes and Autism: New Challenges Ahead

Wednesday, May 21st, 2014

A new twin study of autism suggests that while genetics clearly play a key role , environmental factors are influential too – and in fact may be as important important.

This work – which involved analysis of twins in a large national database in Sweden – partially replicates a recent twin study of autism with US twins sample published in 2011. The only difference is the US study found evidence of “shared environmental” influences on autism – environmental factors that partially explain the similarity of twins (or siblings) independent of genetics. But in both cases, the heritability estimate (a statistical, not biological, metric) suggests that the sum effect of genes on autism is less than estimated in the past.

Overall, the implication is that we need to ramp up efforts to examine environmental contributions to autism – without diluting genetic research. This is easier said than done in a climate in which research funding continues to retract. The reduction of funding makes it harder to pursue the complex issues that require sorting out. Here’s a sampling of issues requiring further intensive investigation:

  • It is likely that there is no one “cause” of autism, such that there may be subtypes that are more strongly effected by genes than others. Testing out this idea would require very large samples – which requires substantial funding.
  • Isolating multiple genes that have “small effects” rather than finding one “disease gene” is still a tricky proposition (akin to looking for multiple needles in a haystack). Researchers continue to evolve biological and statistical approaches to achieve this – but again this work is costly.
  • The same complexities characterize efforts to isolate environmental contributors to autism. Bear in mind that the twin studies don’t identify the sources of the environmental effect – rather, they provide evidence suggesting that environmental factors are critically important and should not be ignored. Again – funding is needed for this.

As the estimated rate of autism continues to climb, and the science keeps telling us that the causes are varied and complex, we need to embrace the idea that funding is critical. Yet we continue to hear that funding for autism research is limited at the national level. Private organizations like Autism Speaks are making great strides but the effort required necessitates a national commitment to increase funding for research on autism. Disseminating that perspective to law makers is one way to try to provide the level of support necessary to examine the roots of a disease that affects more and more children each year.

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Early Signs of Autism
Early Signs of Autism
Early Signs of Autism

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“1 in 68″: The New Data On Autism Spectrum Disorder

Friday, March 28th, 2014

It is now estimated that 1 in 68 children are diagnosed with Autism Spectrum Disorder (ASD), based on a report issued by the Centers for Disease Control and Prevention. This detailed CDC report deserves a close look as there are a number of important findings on the prevalence of ASD and factors that influence evaluation and diagnosis.

THE RATE KEEPS INCREASING: As described by the CDC, the new estimate is 30% higher than the prior estimate made just 2 years ago (1 in 88). The estimated prevalence of ASD has gone up tremendously in the last decade, and it is assumed that improved recognition and diagnosis is the primary factor. The implication here is that we have underestimated the true rate of ASD and as such the new data suggest an urgency in mobilizing resources to understand the causes and accelerate the delivery of interventions (see, for example, the reaction from Autism Speaks to the new estimate).

SEX OF CHILD MATTERS: ASD has always been more prevalent in boys. The new data continue to support that, as 1 in 42 boys in the study received a diagnosis, as compared to 1 in 189 girls. The reasons for this sex difference are still not well understood. But it’s clear that boys in particular are especially likely to be diagnosed with ASD – 1 in 42 is a very high prevalence for any disorder. So anticipate increased efforts at screening for ASD by pediatricians, especially for boys. And it is noted  that ASD should be screened for in girls with more intensity as well, as 1 in 189 is a high prevalence for a disorder.

ETHNICITY MATTERS: While the rates of ASD continue to go up, it is diagnosed more frequently in white, non-Hispanic children. Non-Hispanic white children are 30 times more likely to receive a diagnosis as compared to non-Hispanic black children, and nearly 50% more likely to be diagnosed than Hispanic children. Evaluative and diagnostic efforts need to increase for children in these ethnic groups.

ALL LEVELS OF COGNITIVE FUNCTIONING ARE AFFECTED: Nearly half (46%) of the diagnosed cases in the study had cognitive abilities in the average or above average range. This is potentially one factor that has increased the estimated prevalence over time, as there is more recognition of symptoms of ASD without cognitive/intellectual impairment. Level of cognitive functioning is important clinically in terms of managing other potential conditions and planning interventions – but it’s clear that ASD is being diagnosed across all levels of functioning.

ASD IS STILL DIAGNOSED LATER THAN IT COULD BE: Although recognition of ASD has certainly increased over the last decade, the evaluative and diagnostic efforts are still being done later rather than sooner. The CDC suggests that less than 50% of the diagnosed cases were evaluated before age 3, and that the majority of diagnoses were made after age 4. Reliable screenings of ASD can be made by 2 years of age, and it is imperative that early detection is encouraged, as there are interventions that can begin at these earlier ages. So while detection of ASD has improved over time, we need to see evaluations done at younger ages to ensure that children with ASD receive interventions as early as possible.

WILL THE RATES CONTINUE TO RISE?: This question is raised because of the change in diagnostic criteria offered by the DSM-5, which was introduced in May 2013. Note that the current study collected data in 2010, using the prior version of the DSM (the DSM IV-R). There has been much speculation that the prevalence of ASD will decline given the new criteria. However, we are years away from getting the answer to that question, given the amount of time that it takes to mobilize these intensive data collection efforts. But it’s something to keep in mind for the future.

WHAT ARE THE MOST IMPORTANT IMPLICATIONS OF THE “1 in 68″ STUDY?: Clearly, the need for earlier detection is key – we can’t confuse the increasing recognition with early detection. More vigilant efforts need to be applied to evaluate children in every ethnic group. And while the rate of ASD in girls is much less than that for boys, keep in mind that “1 in 189″ is still a very high prevalence, so efforts to detect ASD in girls should also be intensified. For parents, the most important point is to be aware of early signs of ASD, and to work collaboratively with your pediatrician to monitor your child’s early development and seek out further evaluation if necessary as young as possible.

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2013 and … Autism

Wednesday, December 18th, 2013

Two themes stand out when I reflect on autism research in 2013.

First, there was substantial debate about how we diagnose autism, primarily spurred by changes introduced in DSM-5 (which was published in May). The reformulation of the diagnostic criteria – which led to a discontinuation of the category of Asperger Syndrome in favor of a broad-based category of Autism Spectrum Disorder (ASD) – spurred concerns that many youth would no longer qualify for a diagnosis and hence have their intervention options limited. Others suggested that more precise diagnostic criteria are needed to ensure that ASD does not get overdiagnosed. While we await empirical resolution via publication of well-designed studies, it’s clear that the DSM-5 debate will stand out as an important time in which we wrestled (again) with the best way to be inclusive in diagnosis without expanding diagnostic criteria too broadly.

Second, we are seeing more research on the early diagnosis of ASD, or at least detection of early warning signs, using methods like tracking eye movements of babies when looking at a human face. While this line of work will need to continue to refine the validity and feasibility of the approach – particularly when studying infants – it is an intriguing approach that may eventually have important implications for delivering interventions in the first year of life. Given the proven utility of early intervention, the hope is that the earliest interventions may hold the most promise for promoting development.

Wherever these research directions take us, we know for sure that early detection and intervention is essential. That’s one message that has not changed in 2013.


Early Signs of Autism
Early Signs of Autism
Early Signs of Autism

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Decreasing Eye Contact In Infancy: An Early Indicator Of Autism?

Thursday, November 7th, 2013

Early diagnosis of autism spectrum disorders (ASD) offers the promise of early intervention – with the premise being the earlier, the better. New research suggests that we may be on the horizon of finding signs of ASD in the first 6 months of life. Here’s the breakdown of why this study – which examined attention to eyes in infants as a predictor of a diagnosis of ASD in toddlerhood – is so important.

Why Is This Study Design Powerful?  This study – which builds on substantial prior research on eye contact in ASD – uses a powerful longitudinal design to search for the early signs of ASD in infants, including some at high risk (babies of older siblings with ASD). These design features give confidence in the results – the sampling frame goes from early infancy through the typical age of first diagnosis of ASD, and the high-risk component ensures enough cases to draw meaningful conclusions. And the construct of interest – attention to eyes – has been well-studied, is theoretically grounded, and can be measured with precision.

Why Are The Findings Provocative? Two reasons. First, while ASD (or the risk, or liability, to develop ASD) is assumed to be present at birth, early signs of ASD have been elusive. This study offers hope that by detecting a lack of attention to eyes in the first 6 months of life may offer one potentially powerful screen for risk for ASD. But there’s more. An especially novel finding is that infants later diagnosed with ASD started out in life attending to eyes – but that that ability declined over time. This may eventually be a clue in terms of underlying brain mechanisms – and it also suggests that if these fundamental mechanisms are “in tact” at birth and then decline, perhaps there is even more room for change with very early intervention. Either way, a strong signal of risk in the first 6 months of life may be translated – perhaps rapidly – into very early intervention strategies.

What’s The Take-Home Message? Parents have been encouraged to be mindful of some of the signals of risk for ASD in the early years – including 7 early signs of ASD. Although this study has not yet led to formal recommendations for parents, it does suggest how important face-to-face interaction is during infancy – and also highlights that parents should be vigilant about seeing how their baby reacts when eye contact is expected. The way a baby looks at the human face changes a lot over the first year in life – but the constant is that they spend a lot of time looking at it. The suggesting from this new research is that babies at risk for ASD show a decrease in their interest in the face during infancy. If this is happening, it is certainly worth bringing to the attention of a pediatrician, who will be positioned to look for other developmental milestones and indicators.

What’s The Future? Research studies are especially influential if they give a glimpse into the future. Here the hope is that a screening protocol can be developed to route infants into very early intervention – a developmental time that may hold promise for a lot of plasticity and response to intervention. Bear in mind that some of the most exciting findings to date about intervention – based on application of the Early Start Denver Model (ESDM) – demonstrated that one of the results of intensive intervention is changing the brain response to the human face, with normative patterns of brain activity achieved in some cases. Starting that process in infancy might lead to even more effective intervention programs for ASD.

Early Signs of Autism
Early Signs of Autism
Early Signs of Autism

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Movement And Autism: Why The Link?

Tuesday, July 30th, 2013

Researchers are developing methods to analyze movement patterns in children with autism spectrum disorder (ASD), with the hope that these may be invaluable tools for aiding the diagnostic process and eventually designing interventions. While movement difficulties have long been recognized to be part of ASD, these newer approaches are embracing the idea that movement is a core process via which infants develop their way of interacting with the world – one that it is critically linked with the development of a number of brain areas that underlie social and cognitive development

Consider the ways in which babies use movement to learn about the world. Think about how a baby pulls themselves up, starts to crawl, and learns to walk – from the perspective of how these movement-based actions allow them to explore their world. Think about how they use their hands to experience and manipulate their physical and social environment. These processes have been appreciated by developmentalists for a very long time. But what’s new is understanding how important movement is for establishing brain development. Recent advances in neuroimaging are showing, for example, how  the cerebellum is not just specialized for movement – it also has subsections involved in processing cognitive and emotional stimuli. Movement isn’t just about movement – it’s a fundamental vessel for integrating information out in the world and then translating that information into action.

We will continue to see more and more evidence for movement-brain-cognition links in the future. But the bottom line is that encouraging movement as a way of exploring the physical and social world in infancy and toddlerhood is a very good thing for the brain. And it may turn out that it will also be one avenue to help improve both diagnostics and generate potential interventions early in life for children with ASD.

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