Archive for the ‘
Genetics ’ Category
Friday, May 31st, 2013
The big theme this month was DSM-5. It’s here, we’re reacting – and parents will be dealing with the implications of this diagnostic system for quite some time.
So …. here’s a recap of what was covered this month:
General Issues: Changes Made, Controversies Raised, And What To Expect
An Overview For Parents
The “Saving Normal” Debate
Specific Disorders: What You Need To Know
Autism Spectrum Disorder
Disruptive Mood Dysregulation Disorder
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Friday, April 19th, 2013
As part of Autism Awareness Month, I’ve been reflecting on some of the new things we have learned about Autism Spectrum Disorder (ASD) over the past few years. Four findings stand out for me:
It’s Not Just DNA: The landmark twin study published in 2011 suggests that while genes are important, environmental factors that increase likelihood of ASD are a key etiological influence as well. This finding is a critical one as it is the first twin study to show such a strong environmental effect after controlling for the role of genetics. It gives new impetus to examining a range of environmental influences in addition to searching for genes that increase risk for ASD.
Recovery From ASD Is Possible: While it’s been a controversial topic in the scientific literature, a recent study provides solid evidence that some kids can “outgrow” ASD. What we still don’t know is why that is the case. But this paper does stand out as important documentation that the phenomena of recovery is real.
Psychosocial Interventions Can Change Brain Functioning: While complete recovery from ASD is still rare, the positive effects of early intervention are not. New research published in 2012 provides dramatic evidence that some interventions – such as the Early Start Denver Model – may not just improve behavior, but also “normalize” brain functioning in response to social stimuli. This is a dramatic result because it demonstrates there is ‘plasticity’ in the brain that can be shaped by intensive intervention. It shows that we should give more weight to supporting psychosocial interventions, in part because they can effect biological development.
ASD Is More Common Than Ever: A recent paper reported that 1 in 50 kids have ASD. While it is difficult to generate a premise statistical estimate of the frequency of ASD, it is clear that each new attempt reports that the frequency is higher than previously reported. This trend may, of course, reverse with the publication of the new DSM 5 criteria for ASD. That said, the newest estimates bring attention to how common ASD is in the population – and how many kids need appropriate diagnosis and intervention.
Human Brain Research via Shutterstock.com
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Monday, April 1st, 2013
In 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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Friday, March 29th, 2013
April is Autism Awareness Month. As such, I plan on devoting a number of my blog posts to autism. I will cover topics like:
Why is autism so common now?
What causes autism?
Why are more boys affected?
What is early identification?
What are the best treatment options?
But I want to know if you have questions you would like to pose. So please leave a comment below if you want to suggest a question on autism to take on during Autism Awareness Month.
Autism Awareness via Shutterstock.com
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Thursday, February 28th, 2013
February 2013 was a busy month in the world of parenting – lots of things going on. Here’s a snapshot:
The news that an adult male slapped a stranger’s toddler on a plane led to a conversation about how our culture may be breeding, at a minimum, a lack of respect for our youngsters – and at worst, provide a context in which child-hating is tolerated.
Speaking of conversations, we had many about if we should use what we are learning about genetics to support genetic engineering, including targeting childhood psychiatric disorders. Then came news that new research suggests some genes might predispose to a number of forms of mental illness – but it’s not at all clear that this will move us closer to genetic solutions.
We always include applications of current research to help guide us decide on good parenting strategies. One study suggest how important it is to let your toddler – and not you – be the “boss” when you are playing. And compelling research showed how the simple act of turning off violent shows and replacing them with educational content – without limiting the amount of TV watched – is beneficial for kids.
BARRIERS TO SERVICES
We took on some key barriers to getting kids mental health services and broke them down in understandable turns. Now we all wait to see if sequestration is going to provide the biggest barrier of all.
Time For Review via Shutterstock.com
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