Posts Tagged ‘ autism spectrum disorder ’

Why Every Parent Should Be Aware Of Autism

Monday, April 29th, 2013

As Autism Awareness Month is coming to a close, it’s important to remind parents why they need to be aware of autism spectrum disorder (ASD). 

ASD is no longer a rare disorder. The estimated rate keeps rising. Parents need to be aware of the most telling signs in order to promote early recognition in their kids – and also provide a platform for understanding why a pediatrician may broach the subject.

Such early recognition is essential because early intervention can make a huge difference for a child with ASD. New interventions hold particular promise. While intervention at any time is beneficial, it’s clear that the earlier it starts, the more effective it may be.

Even if ASD hasn’t touched your life directly, it’s still important to know something about it. ASD has become, in a way, like cancer – it seems like we all know someone with cancer. You may have a friend who will have a child diagnosed with ASD in the next few years. Your kid may become friends with someone who has a sibling with ASD. Your kid may become friends with a child who has ASD.

Here are a few good links to follow to learn more about ASD:

Autism Speaks

National Institute of Mental Health

Child Mind Institute

Autism Awareness via


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Can a Child “Outgrow” Autism?

Thursday, April 18th, 2013

Autism DiagnosisAs April is Autism Awareness MonthI am taking on some of the most frequently asked questions about Autism Spectrum Disorder (ASD). “Can A Child ‘Outgrow’ Autism?” is one of the basic ones. A new study released earlier this year suggests that the answer is … yes.

To get to this answer, the study took on two core issues that need to be resolved:

  • Did the youth really have ASD? (Or put another way –  were they misdiagnosed initially?)
  • Did the youth fully recover? (Or put another way – did they lose all of their symptoms, or just enough to lose the diagnosis?)

This study was able to address these issues by combining the clinical resources of a number of institutions, and by using a longitudinal design that tracked kids over time. Via comparisons with two other groups of kids (one with current ASD, another without ASD) - along with rich clinical and developmental histories –  they were able to document complete recovery in 34 cases. By complete recovery, they answered the above questions as follows:

  • The youth had documented ASD earlier in life using current diagnostic criteria.
  • The youth lost all of their symptoms over time (not just some of them).

The question the study has not answered yet is what factors contributed to the complete recovery of these 34 cases. It is anticipated that a future publication will examine this.

While complete recovery is a goal for many parents, right now it is not the typical outcome for the majority of kids with ASD. That said, great strides are being made with intervention – especially early intervention. Getting kids diagnosed early and using that as a platform for early intervention will always lead to improvement in functioning over time, even if complete recovery is not achieved.

Autism Diagnosis via woaiss /

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Why Is Autism So Common Now?

Monday, April 1st, 2013

Autism RibbonIn 1980, the rate of autism was typically quoted as 4 in 10,000. The most recent rate reported is 1 in 50. While it is difficult to get a precise estimate, it’s abundantly clear that rates of autism have increased dramatically since 1980 – and in fact over the last decade. So what has changed?

There are a number of factors that have brought the startling levels of autism to our attention. These include:

Better Awareness: In 1980, autism was first introduced as a separate diagnostic category in the third addition of the Diagnostic and Statistical Manual of Mental Disorders (DSM). Prior to that time, clinicians using the DSM applied other categories such as childhood schizophrenia. Since 1980, there has been extraordinary growth in awareness – both for professionals and parents alike. This is particularly so over the past decade. Advocacy groups have done an admirable job of helping us understand what autism is (and isn’t). Pediatricians now screen for early warning signs – as do parents. These actions have all led to a much greater awareness of the symptoms of autism which undoubtedly translates in more proper diagnoses being made. In addition, the increased awareness has permitted older kids to be diagnosed more properly when the signs earlier in life were not recognized as autism.

Expansion Of The Symptoms: In parallel with efforts to increase awareness, diagnostic changes that recognized autism as a spectrum – now referred to as Autism Spectrum Disorder (ASD) – helped capture the wide range of symptoms that go beyond “classic” autism. Including a much broader representation of social, communicative, and repetitive/stereotyped behaviors certainly helped recognize the disorder in many youth who would not have been diagnosed in past years. Of course, there is debate about how the changes in the upcoming DSM-5 may result in a reduction in the rate of diagnosed ASD in the future. But up until now, recognizing the variation in symptoms that can characterize ASD has certainly been a factor in understanding how common autism really is.

Changes In Etiological Factors: Less understood is the role of new causative factors that increase risk for ASD. Much attention is being given to a large number of potential environmental contributors. There is the suggestion that specific genetic mutations that may be linked to autism – and associated with paternal age – are more common in the population because of average increases in paternal age over the last few decades. Much of this work, though, is work in progress, as it is believed that ASD typically results from the combination of a number of environmental and genetic risk factors. But many researchers operate under the assumption that there are both environmental and genetic risk factors that may be increasing in the population, though they remain elusive.

So, since 1980, what we have learned? We know now that autism is very common, is best thought of as a spectrum that includes substantial variation in how symptoms are expressed, and may be influenced by increasing levels of risk factors that are not well understood at this time. For all these reasons, it is critical that we keep researching the causes of autism, and continue to promote awareness of the early signs and symptoms in order to support early diagnosis and intervention.

Image: Autism Awareness Ribbon via Shutterstock

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Do 1 in 50 Kids Have Autism Spectrum Disorder?

Wednesday, March 20th, 2013

The Centers for Disease Control (CDC) have released a report that suggests 1 in 50 kids suffer from autism spectrum disorder (ASD). This is indeed the number they found in their study of over 100,000 families. But that said, it’s difficult to draw firm conclusions on this finding. Here are a few key points to consider: 

1) One of the reasons that the rate of ASD has increased from the prior estimate of 1 in 88 kids is that, in this new study, data on older kids were collected. The prior estimate derived from sampling families who had an 8 year old child. The new research reached out to families with kids between 6-17 years of age. Thus one of the suggestions is that this newer estimate is higher because older kids with more mild symptoms were more likely to be represented in the sample. In this sense, the new data are more informative.

2) That said, it should be noted that the participation rate in the new study was quite low – only 23% of the families contacted participated in the survey. The authors suggest that this sample was not biased (based on statistical modeling used). However, it’s worth noting that prior estimates were based on sampling that resulted in participation rates closer to 50%. The issue – that isn’t resolved – is the extent to which families who have a child with ASD were more likely to participate – or put another way, families who don’t have kids with ASD may not have been motivated to participate. Bottom line, this participation rate is a concern.

3) The new study asked parents (or guardians) directly if they have been told (by a practitioner) that a child in the home (in the targeted age range) has ASD and also if the child currently has ASD. The authors suggest that this is an important strategy because not every child receives services and hence service-based estimates may be biased. But it’s also the case that only asking a parent/guardian these particular questions does not give a complete picture (for example, a child may have been misdiagnosed by a practitioner in either direction). So this sampling strategy is a mixed bag – there are both advantages and disadvantages to it. Of course, the gold standard would be to do a diagnostic assessment of all the kids – but something of this magnitude is typically not feasible for pragmatic reasons (it would be a huge scientific undertaking).

Taken together, we see that this study had strengths, weaknesses, and some mixed elements to it. Conducting a study of this magnitude is very difficult and as such the data should not be dismissed. But it’s tough to say if the new estimate is the “real” one or just another statistical estimate that is higher than previously thought.

We do, however, know three things for sure. First, whatever the true population estimate may be, ASD undoubtedly affects a profound number of youth. Second, it will be critical to evaluate how the new diagnostic criteria in the upcoming DSM 5 will impact these estimates – especially since there have been suggestions that at least 10% of kids currently diagnosed with ASD will no longer meet diagnostic criteria. And third, the key for any child who is diagnosed with ASD is to get intervention as early as possible, especially given some of the latest encouraging findings.

Autism via

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Childhood Psychiatric Disorders: Will Genetic Engineering Ever Be A Solution?

Wednesday, February 27th, 2013

Following a stimulating Intelligence Squared debate, we’ve been discussing genetic engineering (think of it as directly changing DNA) here at – both in terms of using it to create a “Super Baby” and to prevent disease. As a follow-up, let’s consider the likelihood of genetic engineering being a factor in the future for a number of childhood psychiatric disorders – or more to the point, the challenges that lay ahead. 

Autism Spectrum Disorder (ASD)

There would be hope that genetic engineering would be feasible in the future, as ASD is believed to be highly genetic in origin. However, the genetic basis for ASD is not clear. In fact, there may be a range of genetic etiologies. For example, some cases may be due to a rare genetic mutation – but there could be a number of mutations that can lead to ASD (not just one identified disease gene) making the idea of genetic engineering more challenging. The majority of ASD cases may reflect a complex mix of genetic and environmental influences – and the latest statistical modeling suggests that the genetic contribution to ASD may not be as strong as previously thought (and that the role of the environment may be more pronounced). For those situations, the idea of using genetic engineering is even more murky, because there may be many genes involved and they probably interact with a variety of environmental factors. All of this is not to say that genetics won’t lead to possible biological therapeutics – rather it’s to point out that the lure of genetic engineering as a solution may not be the avenue that will be pursued.


The best evidence to date suggests that ADHD is due to a mix of genetic factors along with the influence of a number of environmental factors. As discussed above, this makes the pure application of genetic engineering difficult to imagine. There may a large number of genes involved, each of which may only have a small effect on the likelihood of developing ADHD – which, simply put, would make it very difficult to know what genes to target. Again, it’s tough to predict where genetic research will go, but while it may certainly lead to improved treatments over time for ADHD, it’s tough to see the role of genetic engineering.


You’re starting to see a pattern here. Like ADHD, depression is also thought to be influenced by many genes as well as the environment. As discussed above, this constellation of risk factors does not suggest that genetic engineering will be a factor any time soon.

Conduct Disorder (CD)

This is the same deal as the case for ADHD and depression – and it may be that the environment plays an even stronger role in the etiology of CD.


The idea of genetic engineering is provocative. But the reality may be far in the future for most childhood psychiatric disorders – and in many cases it may not be the way in which genetic research gets translated into prevention and intervention.

Molecular Biology Test via



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