Autism Spectrum Disorder: Progress Toward Earlier Diagnosis

Sleeping baby

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Research shows that the roots of autism spectrum disorder (ASD) generally start early—most likely in the womb. That’s one more reason, on top of a large number of epidemiological studies, why current claims about the role of vaccines in causing autism can’t be right. But how early is ASD detectable? It’s a critical question, since early intervention has been shown to help limit the effects of autism. The problem is there’s currently no reliable way to detect ASD until around 18–24 months, when the social deficits and repetitive behaviors associated with the condition begin to appear.

Several months ago, an NIH-funded team offered promising evidence that it may be possible to detect ASD in high-risk 1-year-olds by shifting attention from how kids act to how their brains have grown [1]. Now, new evidence from that same team suggests that neurological signs of ASD might be detectable even earlier.

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Creative Minds: A Transcriptional “Periodic Table” of Human Neurons

neuronal cell

Caption: Mouse fibroblasts converted into induced neuronal cells, showing neuronal appendages (red), nuclei (blue) and the neural protein tau (yellow).
Credit: Kristin Baldwin, Scripps Research Institute, La Jolla, CA

Writers have The Elements of Style, chemists have the periodic table, and biomedical researchers could soon have a comprehensive reference on how to make neurons in a dish. Kristin Baldwin of the Scripps Research Institute, La Jolla, CA, has received a 2016 NIH Director’s Pioneer Award to begin drafting an online resource that will provide other researchers the information they need to reprogram mature human skin cells reproducibly into a variety of neurons that closely resemble those found in the brain and nervous system.

These lab-grown neurons could be used to improve our understanding of basic human biology and to develop better models for studying Alzheimer’s disease, autism, and a wide range of other neurological conditions. Such questions have been extremely difficult to explore in mice and other animal models because they have shorter lifespans and different brain structures than humans.

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Brain Scans Show Early Signs of Autism Spectrum Disorder

Unhappy baby

Source: Getty Images

For children with autism spectrum disorder (ASD), early diagnosis is critical to allow for possible interventions at a time when the brain is most amenable to change. But that’s been tough to implement for a simple reason: the symptoms of ASD, such as communication difficulties, social deficits, and repetitive behaviors, often do not show up until a child turns 2 or even 3 years old.

Now, an NIH-funded research team has news that may pave the way for earlier detection of ASD. The key is to shift the diagnostic focus from how kids act to how their brains grow. In their brain imaging study, the researchers found that, compared to other children, youngsters with ASD showed unusually rapid brain growth from infancy to age 2. In fact, the growth differences were already evident by their first birthdays, well before autistic behaviors typically emerge.

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Resurgence of Measles, Pertussis Fueled by Vaccine Refusals

Baby getting a vaccine

Credit: Centers for Disease Control and Prevention

I was born in 1950 and was home-schooled until the 6th grade. Thus, I missed exposure to several childhood illnesses that affected most of my generation. I never gave it much thought until, as a medical resident in North Carolina in 1979, I came down with a potentially life-threatening febrile illness that required hospitalization. Only after four days of 105 degree fever did a rash appear, and the diagnosis was made: measles. That was the sickest I have ever been. It turned out that one of my daughter’s school friends had developed measles in a small outbreak of unvaccinated kids in Chapel Hill, and I had been exposed to her. I was born too early to have been vaccinated.

But for most people born in the United States after the 1960s, they have never had to experience the high fever and rash of the measles or the coughing fits of pertussis, commonly known as whooping cough. That’s because these extremely contagious and potentially life-threatening diseases have been controlled with the use of highly effective vaccines and strong vaccination programs. And yet, the number of Americans sickened with measles and pertussis each year has recently crept back up.

Now, an NIH-funded report confirms that many of the recent outbreaks of these vaccine-preventable diseases have been fueled by refusal by some parents to have their children vaccinated [1]. The findings, published recently in JAMA, come as an important reminder that successful eradication of infectious diseases depends not only on the availability of safe and effective vaccines, but also on effective communication about the vaccines and the diseases they prevent.

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No Link Between MMR Vaccine and Autism, Even in High-Risk Kids

Child vaccination

Credit: CDC

Study after study has found no link between autism spectrum disorders (ASD) and the measles-mumps-rubella (MMR) vaccine—or any vaccine for that matter. Yet many parents still refuse or delay vaccinations for their young children based on misplaced fear of ASD, which can be traced back to a small 1998 study that’s since been debunked and retracted [1]. Such decisions can have a major negative impact on public health. With vaccination rates in decline, we’ve recently seen the resurgence of measles and other potentially fatal childhood infectious diseases.

Among the parents most likely to avoid getting their kids vaccinated are those who already have a child with ASD. So, it’s especially important and timely news that researchers have once again found no link between MMR vaccines and ASD—even among children known to be at greater risk for autism because an older sibling has the developmental brain disorder.

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