Daily Checkup: Autism spectrum disorder cuts across racial, ethnic and socioeconomic lines, says Dr. Alexander Kolevzon of Mount Sinai

Original post from Daily News


Dr. Alexander Kolevzon is the clinical director of the Seaver Autism Center for Research and Treatment at Mount Sinai. He sees patients with autism spectrum disorder (ASD) from age 12 months through adulthood.

The Specialist

As the clinical director of theSeaver Autism Center for Research and Treatment at Mount Sinai, Dr. Alexander Kolevzon sees patients with autism spectrum disorder (ASD) from age 12 months through adulthood. April is Autism Awareness Month.


When the updated Diagnostic and Statistical Manual for Mental Disorders (DSM) was published almost two years ago, this fifth edition again changed how autism was defined. “Autism spectrum disorder is now an umbrella term we use to describe a set of complex neurodevelopmental disorders characterized by social and communication deficits and repetitive behaviors,” says Kolevzon. “The changes in the DSM-5 criteria allowed us to shift the emphasis away from distinguishing between different subtypes of autism and instead to focus on important features like level of language, cognitive functioning, and need for support.”

While the prevalence of ASD is increasing, it’s still not entirely clear exactly how common autism it is. “Each time the Center for Disease Control (CDC) does a monitoring study, the rate of autism goes up — the latest numbers show that 1 in every 68 children born falls on the autism spectrum,” says Kolevzon. “However, the number may be significantly lower — studies that use gold standard diagnostic procedures and observe children directly find rates closer to 1 in 150 children.”

Researchers continue to discover more and more genes that cause ASD, and to date, at least 100 have been identified. There are also a group of risk factors associated with ASD. “Risk factors include very low birth weight, preterm birth, older parental age, and exposure to several toxins during pregnancy,” says Kolevzon. “We think of ASD as mainly genetic in origin but additional factors may act on the genes to increase risk. These factors contribute but they don’t cause ASD in and of themselves.”

ASD is prevalent in all different populations. “ASD crosses racial, ethnic and socioeconomic lines,” says Kolevzon. “There is, however, a much higher prevalence in boys, who are four to five times more likely to be affected than girls.”

Because ASD is primarily a genetic disorder, infants are born with it. “Symptoms unfold over the first year or two of life, but there may be clear signs as early as 12 months,” says Kolevzon. “By 2 years old, children can be reliably diagnosed.”


There is a cluster of warnings signs that parents can look for in their child’s first year of life. “The early symptoms include things like not responding to name, poor eye contact, and lack of joint attention,” says Kolevzon. “Joint attention is when the child uses gestures and gaze to share attention in something of interest to them. The child may point to something to show their parent, like a bird in the sky, and will then watch to see that their parent is following their point, completing a triangle of attention.”

Children on the autism spectrum also demonstrate social deficits. “They have impairments in imaginary or pretend play, less interest in other children, and significant difficulty with reciprocal play as they get older,” says Kolevzon. “There are also language deficits with delays in achieving phrase speech, which is the ability to put at least three words together in a spontaneous and meaningful way.”

Repetitive behaviors are also criteria for diagnosing autism. “Even before 1 year old, you can see repetitive motions like hand-flapping, toe-walking, or rocking,” says Kolevzon. “As children grow older, they may also form restricted interests and routines like in their eating habits. These routines can be soothing, but sometimes they aren’t compatible with life.” Another important change in the DSM-5 criteria for ASD is the addition of atypical reactivity to sensory input or unusual interest in sensory stimuli in the environment, such as light, sound or textures.


The first step toward getting treatment is getting the proper diagnosis. “As recommended by the American Academy of Pediatrics, all kids should be screened for ASD at age 18 months and 24 months,” says Kolevzon. “This screening should be done with a specific ASD tool like the Modified Checklist for Autism in Toddlers. If there are red flags, the next step is a gold-standard evaluation for ASD, which consists of direct observation of the child and an in-depth parent interview done by specialists.”

Once the diagnosis of ASD is confirmed, “intervention may combine speech therapy, occupational therapy, physical therapy, and applied behavioral analysis (i.e., ABA),” says Kolevzon. “ABA teaches children skills using positive reinforcements. It is now well accepted that the earlier and more intensively you intervene, the more robust the gains.”

Awareness about ASD and available treatment options have improved tremendously over the past few decades. “There have been a lot of cultural shifts and the services available for families are dramatically better,” says Kolevzon. “It used to be that ASD felt like an even more devastating diagnosis. Now there are many things we can do, and parents can focus their energies. The interventions we have today can lead to real improvements.”


Genetic research into autism is paying off. “So far, we’ve discovered 100 different genes and several pathways these genes impact,” says Kolevzon. “That’s crucial because once we know the cause of a specific case of ASD, we can work to develop targeted treatments that might be able to reverse the problem.”


While it’s incumbent on doctors to administer a specific screening tool for ASD to all toddlers, parents should push to make sure this happen. Ask, “Can my child get a specific ASD screening?” and if there is any cause for concern, “Can you refer us to a specialist?” If your child is diagnosed with ASD, then ask, “What kind of interventions are appropriate for our child?”and “What kind of resources are available in our community?” All children with suspected ASD should also receive genetic testing using chromosomal microarray. “Thankfully, now there are a number of different resources to get children support for their needs,” says Kolevzon. “Parents aren’t helpless — families should be empowered to develop clinical skills so every interaction with their child can be potentially therapeutic.”


Get informed.

Start your search with reliable online sources, like Autism Speaks (autismspeaks.org), the Autism Science Foundation (autismsciencefoundation.org), and Seaver Autism Center at Mount Sinai (seavercenter.org).

Know the symptoms.

All parents can keep an eye out for language deficits, the inability to form joint attention, and lack of response to name.

Genetic testing.

In some cases, genetic testing can help guide the child’s treatment.

Talk to your doctor about whether genetic testing is appropriate for your child.

Get support for the whole family.

“ASD affects the whole family, so it’s important to get support for parents and siblings as well,” says Kolevzon.

Intervene early.

Don’t take a wait and see approach — early intervention is crucial for progress.


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