Perri Klass, M.D.

Every pediatrician knows it is important to diagnose autism when a child is as young as possible, because when younger children get help and intensive therapy, their developmental outcomes improve, as measured in everything from improved language, cognition and social skills to normalized brain activity.

“The signs and symptoms for most children are there between 12 and 24 months,” said Dr. Paul Carbone, associate professor of pediatrics at the University of Utah and co-author of “Autism Spectrum Disorder: What Every Parent Needs to Know,” published by the American Academy of Pediatrics. “If we can get them in for evaluation by then, the therapies are available as young as those ages; you can easily start by 2,” he said. “We’d like to give kids the benefit of getting started early.”

That means taking parents seriously when they bring up concerns about what they regard as strange behaviors and interactions on the part of babies and toddlers, and it also means that we try to screen all our patients, often with a checklist for parents to complete, such as the Modified Checklist for Autism in Toddlers, or M-CHAT. Children whose scores indicate a concern are then supposed to be referred on for a full developmental assessment. The Centers for Disease Control and Prevention’s website lists developmental milestones to look for; missing them could be an early sign of autism.

So we all know this is important. We also know that we are not, collectively, doing a very good job of screening all children, that the questionnaires often overidentify children who don’t actually need full assessments, and that the referral process can be plagued with long waits (and when a young child has to wait months for the assessment, that works against the benefit of early diagnosis). Children in minority groups are diagnosed at an older average age than white children, and therefore get therapy later, contributing to increased disparities.

“We’re trying to develop methods that might add more precision,” said Geraldine Dawson, professor of psychiatry and behavioral sciences at Duke University and director of the Duke Center for Autism and Brain Development.

Autism is by its nature a social communication disorder, Carbone said, and two relatively specific early signs are failing to look at a person who calls your name and not manifesting what is called joint attention. As early as 9 months, and reliably by 18 months, a neurodevelopmentally typical child will look back and forth between an object of interest and a caregiver, attempting to create a mutual experience; a child on the autism spectrum is less likely to do this.

Researchers looking to find a biomarker that can help with the early diagnosis of autism have seized on the question of how young children react to hearing their names called. Dawson was the corresponding author on a study in April in the journal Autism that used computer vision analysis to look at the reactions of toddlers from 16 to 31 months old, in response to hearing their names called. Those with autism spectrum disorder took significantly longer to look away from a video and orient toward the person who had called.

“Toddlers and infants who will go on to develop autism are paying attention to the world in a very different way,” Dawson said.

The hope is eventually to make a tool that would be easily available in low-resource countries, or in any area in the United States, perhaps by having parents collect data on their phones.

“It’s very important to screen for autism early,” Dawson said. “We have research that suggests that parents are quite good at noting that a child is not behaving normally, and it’s important to get children diagnoses.”

The gold standard for diagnosis is to have the child evaluated by experts in behavior and development.

“Right now, unfortunately, the average age of diagnosis according to the CDC is around 4 or a little bit older. The hope is to get it closer to 2,” said Dr. Susan Levy, a developmental pediatrician at the Center for Autism Research at the Children’s Hospital of Philadelphia.

Diagnosis is made clinically, after a family has waited what can be a long time on a waiting list.

“Diagnosis is made by a really good history of what the child’s development has been like in the different streams of development, language, motor,” Levy said. The specialist also observes the child directly: “We look closely at social skills, at how they respond to their name, are they using eye contact to find out about others’ thoughts, are they using language to communicate, do they have any repetitive or unusual behaviors?”

The assessment also needs to look carefully at any repetitive behaviors, she said, and ideally may involve a team of specially trained observers with expertise in speech and language and occupational therapy.

And then, for children whose development and behavior are concerning, there need to be complex conversations with the parents. “We talk about where their skills are now, how their development may differ, what makes it harder for them,” Levy said. “About what their strengths and weaknesses are and what characteristics they have that are consistent with the criteria for having an autism spectrum disorder.”

The younger the children are, she said, the more challenging it is to predict what their trajectories may be, although, of course, the younger they are, the greater the hope of changing those trajectories for the better. And that will mean that the family needs to establish a strong relationship with the people who will work with the child.

“It’s not a sprint; it’s a marathon or a triathlon,” Levy said. “It’s important to find providers you’re comfortable with, who are not promising quick fixes. There are no quick fixes for a family with a diagnosis of autism.”

This article originally appeared in <a href="https://www.nytimes.com/2019/04/22/well/family/the-search-for-a-biomarker-for-early-autism-diagnosis.html" id="9f923c40-32bd-378d-afb8-915405c3c9c7">The New York Times</a>.

(The Checkup)

The Search for a Biomarker for Early Autism Diagnosis

“We tend to think hormone disrupters are a mom and baby issue,” said Dr. Leonardo Trasande, the chief of the division of environmental pediatrics at NYU School of Medicine. “But it literally can be a life and death matter for folks who are not even trying to have a family.”

Trasande is one of the doctors I work with in the pediatric clinic at Bellevue Hospital, and the author of “Sicker, Fatter, Poorer: the Urgent Threat of Hormone-Disrupting Chemicals to Our Health and Future … and What We Can Do About It.”

There is significant evidence that several types of chemicals can, in different ways, interfere with the hormones that our bodies use as messengers for everything from sexual maturity and fertility to how we handle appetite and fat storage.

Evidence has accumulated that these substances can change the ways that children’s bodies develop, starting very early. “We are also looking more and more at not just exposures in pregnancy, but exposures before conception, which is very interesting,” Trasande said. “It may be early exposures are shaping how gametes develop.”

But what can we actually do to shield ourselves (and our gametes) and our children? The subtitle of Trasande’s book suggests that there are ways to protect ourselves and our families from substances that he and other environmental medicine specialists believe we will come to see as more and more dangerous, even at comparatively low levels.

The four categories of particularly concerning chemicals include pesticides, which can contaminate our produce; phthalates, which are used in cosmetics and personal care products and also in many kinds of food packaging; bisphenols, which are in the lining of aluminum cans; and flame retardants used in electronics, furniture and mattresses.

“There are straightforward, simple steps to reduce exposures that don’t have to break the budget,” Trasande said. He suggested avoiding canned food consumption, along with foods that are highly packaged or processed, and in particular avoiding plastic bottles or containers marked on the bottom with 3, 6 or 7.

Plastics marked with a 3, he said, are worrisome for phthalates, which inhibit male sex hormones and disrupt metabolism. A number 6 denotes styrene, which is a known carcinogen. And plastics marked with 7 contain bisphenol, which in the lab has been shown to be related to obesity.

He pointed to a recent study in JAMA Internal Medicine. In a group of more than 44,000 French adults 45 and older, a 10 percent increase in what is called “ultraprocessed food” was associated with a 14 percent higher risk of death from all causes. (Ultraprocessed foods are industrial products with many additives.)

These are difficult links to draw, and it’s also possible that people who tend to eat ultraprocessed foods are making many other lifestyle choices that affect their health. One possible link might be, “phthalates and other food contaminants in those processed foods may inhibit testosterone function, which is known to be a major risk factor for adult cardiovascular disease and stroke,” Trasande said. But this kind of study can show only an association, it doesn’t establish cause and effect, and Trasande pointed out that the conclusions have been disputed by other experts.

Even so, environmental health experts worry about both the food and the packaging. “Eat less processed food,” said Manish Arora, professor of environmental medicine and public health at Icahn School of Medicine at Mt. Sinai. It’s good for your body, he said, and “it’s also good for the environment, less processing, less carbon footprint, less chemicals into the environment, less chemicals back into us.”

“Buy fresh food not wrapped in plastic,” Trasande said, since the contact of the food with the packaging is what you want to avoid.

“How to help our children improve their health?” Arora asked. “There’s nothing like physical activity, fruits and vegetables.”

But beyond protecting yourself and your own family as far as you can, Trasande said, “there’s so much we can do with the broader public action and social action.”

Arora said, “It’s almost as if the products are released and then there’s a slow and cumbersome process to see if they’re harmful.” Decades can go by before that process is complete, he said, and during those decades, “an entire generation has been exposed during the formative years.”

This was the story with lead, and more recently, he said, it was almost the story for many plastics. Lead was present in so many places in children’s environments, from paint to auto emissions, and was gradually understood to be more and more dangerous, even at levels of exposure that had been thought to be safe.

Arora also pointed to the importance of keeping household cleaning products that can contain “really nasty chemicals” away from children, and choosing products that contain fewer chemicals (the Environmental Working Group guide to healthy cleaning products can help). In an email, he wrote, “personally, like many folks these days, I use homemade products for regular cleaning in areas that are not too dirty, such as lemon, baking soda, white vinegar.”

It’s important to try to influence product manufacturers to move in the right direction, Arora said, and to take the trouble to look for products made in ways that minimize the impact on the consumer and more broadly on the environment, for example, by using biodegradable dyes. He buys jackets made from 100% recycled material, he said, and has switched to secondhand clothes.

This article originally appeared in <a id="88b26d1a-676f-3d39-a199-17ae8a716f61" href="https://www.nytimes.com/2019/04/01/well/family/how-to-minimize-exposures-to-hormone-disrupters.html">The New York Times</a>.

How to minimize exposures to hormone disrupters [care2]

How to minimize exposures to hormone disrupters

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Perri Klass, M.D.

Articles written by the author

The Search for a Biomarker for Early Autism Diagnosis

How to minimize exposures to hormone disrupters