Medscape Pediatrics

Laurie Scudder, DNP, PNP, Susan L. Hyman, MDDisclosures

May 06, 2014

 

 

Editor's Note: A just-released estimate of autism spectrum disorder (ASD) prevalence published by the Centers for Disease Control and Prevention (CDC) concluded that rates of ASDs are roughly 30% higher than previous estimates.[1] These new data put the figure at 1 in 68 children aged 8 years (or 14.7 per 1000) -- compared with a 2012 estimate that 1 in 88 children (11.3 per 1000) had an ASD. This rise was despite the fact that the criteria used to diagnose ASDs and the methods used to collect data have not changed, according to the report.

 

The new estimates are based on 2010 data from 11 sites participating in the Autism and Developmental Disabilities Monitoring Network, an active surveillance system that provides estimates of the prevalence of ASD and other characteristics among children aged 8 years. The age of 8 years was chosen to ensure that the majority of children with the condition would be included; the overwhelming majority of children with ASD will have been diagnosed by that age.

 

Medscape spoke with Susan L. Hyman MD, a professor in the Department of Pediatrics and Chief of Neurodevelopmental and Behavioral Pediatrics at the University of Rochester, and Chair of the American Academy of Pediatrics (AAP) Autism Subcommittee, about the survey and the implications for primary care pediatrics.

 

Medscape: Given that these were 2010 data, what would you expect today?

 

Dr. Hyman: The AAP first recommended developmental screening for autism in 2006.[2] As a result, I believe that children born in subsequent birth cohorts are likely to be identified earlier. The study just published was reporting data about children who were born in 2002, so these children were already 4 years of age when the initial recommendation for screening came out and were 8 years of age in 2010.

 

I think what we are likely to see with subsequent birth cohorts is an earlier age at diagnosis. With increased education for both pediatricians and educators, we may actually see the numbers go up, because these data are collected from surveillance of health and education records and depend on the written observations of the professionals in those settings.

 

Medscape: How do you expect the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) to affect this process of data collection?

 

Dr. Hyman: That's an excellent question. First let me describe how the CDC data are collected in order to answer.

 

CDC data are collected by surveillance. The researchers examine school and health records using a validated method of looking for key words to help identify children with autism. Sometimes the diagnosis is made by outside clinicians in the communities. By virtue of looking at high-risk populations, including children who have other developmental issues and who are receiving special education services in the schools, they come up with kids who aren't already diagnosed as well.

 

They've been using the DSM-IV, the prior diagnostic algorithm, to identify children with autism. What's happened over the decade of monitoring that has been completed is that educators and clinicians have become more aware of the symptoms of ASD as described in DSM-IV. In future monitoring, the CDC will compare the algorithm from DSM-5, the new diagnostic criteria, with the DSM-IV. In this way of population monitoring, they will be able to examine how the 2 algorithms compare, which will be quite informative.

 

How do I personally expect DSM-5 to affect this information? I think that we know a lot more about autism than we did in 1994, when DSM-IV was published. I think that DSM-5 needs a chance to be used in clinical practice so that we get a sense of its accuracy. I believe we understand now that sensory symptoms should be captured when making a diagnosis of autism, and that repetitive behaviors shouldn't be minimized as they had been previously. So the DSM-5 may actually capture more accurately what we know clinically to be autism.

 

Medscape: In your opinion, were these children missed by the medical community before, or were they diagnosed with other conditions?

 

Dr. Hyman: I think it's a combination of both. The diagnostic criteria in DSM-IV allowed for the capture of children on the diagnostic spectrum who had a high intelligence quotient (IQ) and were high-functioning -- what we used to call "Asperger syndrome" -- as well as children who were low-functioning and did not have language, those who in the past we said had profound intellectual disabilities. It became a way to capture social reciprocity -- social give-and-take independent of IQ -- so it widened the IQ range. People who previously would have been considered quirky or odd may have been better described as being on the autism spectrum, and that will persist through DSM-5.

 

The question that you're asking is: Were these people diagnosed with other things? The answer is yes -- people were diagnosed with profound intellectual disability, what we used to call "mental retardation." A large number of higher-functioning individuals were not diagnosed or may have been diagnosed with attention-deficit/hyperactivity disorder (ADHD) or mental health disorders, and the autism spectrum wasn't recognized.

 

Medscape: What every pediatric clinician really wants to know is, is this a true rise vs better identification vs a diagnostic shift? Or all of the above?

 

Dr. Hyman: It is a little bit of everything. I believe that we're better at identifying people with ASDs, and I also can't rule out that it's not occurring with increasing frequency. There has been a rise in other disorders -- for example, ADHD -- that isn't getting as much press as the rise in autism. We really need to examine the rise in all of these disorders in our culture, and in our country. It's extraordinarily complex.

 

There are a number of families who come in to see us, we diagnose the child, and the parent then questions whether either they or a sibling also has ASD. It is very common for the condition to be undiagnosed in adulthood. We don't have the capacity to look at the whole population to see whether or not the prevalence is greater in adults with these new criteria.

 

Medscape: What does current evidence say about reasons for this rise? Is there an environmental factor that is contributing?

 

Dr. Hyman: This may be true. It may also be true -- and unrelated -- that we are diagnosing better and more broadly. But there also may be other things that interact with genetic predisposition to allow the manifestations that we see as autism.

 

Lots of correlational studies have been published in recent years that have examined factors associated with autism. We don't yet understand the biology of causality, though the association of older maternal[3] and paternal[4] age with ASDs is an important, open question. Is maternal obesity, which is rising even faster than autism and ADHD, associated with autism?[5] Are there aspects of air pollution that are associated with ASD? There was a recent report about the use of pitocin augmentation in labor.[6] None of these are studies that would allow us to say anything about causation.

 

What these epidemiologic studies do is identify observational associations. It may be that whatever it is that causes autism results in these associations. Or it may be something that causes both. Or it may be just that obesity is rampant in the population.

 

A very recent study, published in the New England Journal of Medicine, documented abnormal areas of development in the brains of youngsters with autism and points to fairly early gestational differences in how the brain is being formed.[7] This supports our current understanding that most, if not all, of the influences related to the etiology of autism are prenatal. Whether it is genetic predisposition, things in the environment, or the internal environment of the mother -- we don't know yet. That's one of the very compelling reasons to support translational research.

 

 

 

Diagnosing Earlier

 

Medscape: AAP and other organizations all emphasize the importance of early identification and intervention. Despite this, according to a recent review, the average age at diagnosis is still between 38 and 120 months.[8] Can you discuss the best strategies and resources to improve early recognition?

 

Dr. Hyman: Yes. It's critically important to identify children with autism early, because we believe that outcome can be changed by evidence-based intervention at the earliest age possible.

 

Before the AAP developmental screening recommendations in 2006,[2] the recommendation had been for pediatricians to monitor development more informally in the primary care setting. What studies have shown is that even though pediatricians have a good eye for most aspects of child development in the course of a clinic visit, many children are missed without formal screening. So the recommendation for general developmental screening in primary care was generated with autism specific screening at 18, 24, and/or 30 months.

 

The reason you need autism-specific screening is because general screening is excellent at picking up language and learning delays and behavior problems, but does not include the social questions that will distinguish children with autism at a very early age.

 

In a stepwise fashion, I'd like to comment on what is being advocated by the AAP and partners for identification of young children with autism.

 

Number 1: You need to educate parents. You don't need to scare them with understanding the red flags for autism, but parents need to understand what constitutes typical development. In this very electronic age, parents must know that they have a critical responsibility to interact with their babies socially and teach them how to play. The Academy has information for parents on language milestones, on how to interact with a baby and toddler, and some very robust materials have been developed by the CDC in the Learn the Signs. Act Early program.

 

By teaching parents what is typical and what to expect, we also want to empower them to express their concerns to pediatricians and child health providers in the context of both monitoring and formal screening. So step 1 is to educate families about typical development, as well as how to promote typical development.

 

Step 2 is to educate pediatric clinicians in screening and appropriate use of screening instruments. This includes screening at the recommended ages and using screening instruments in the way that they're intended.

 

The most commonly used screening tool for autism is the Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R™). It is available free of charge, comes in several languages, and can be done by front office staff. It is a 23-item paper and pencil task. Electronic versions that are available online and electronically scored are commercially available.

 

What providers need to know is that the M-CHAT is not a stand-alone tool. Like many screening tests, the M-CHAT overidentifies children at risk; positive screens need to be followed up by an interview, a template for which is available online and also free of charge, that allows the clinician to tease apart whether the positive answers are because of language delay or autism.

 

The data on the M-CHAT would suggest that although only a minority of children who screen positive will be diagnosed with autism, almost all of the children who screen positive when confirmed by the standard interview have a developmental delay that is worthy of early intervention. It's critical that the child health provider follow up a screen with the interview.

 

The third step, which is absolutely critically important, is the recognition that a positive screen is only a screen and not a diagnosis. The child needs to be evaluated. One of the things that's very concerning to us is the number of families who either don't follow up on the recommendation for evaluation, or clinicians who don't refer positive screens for further evaluation, because that is the next step that needs to occur before a child gets into effective early treatment.

 

So step 1 is parent education, step 2 is screening in primary care, step 3 is referral to services -- and the last, fourth, piece that is new and very exciting is a government initiative called Birth to Five, Watch Me Thrive. This program provides education about screening and early child development to daycare and child education groups, as well as primary care providers, to encourage communities to support screening and education about typical and atypical milestones in other settings.

 

To get back to your original question regarding best strategies for identification, let me say one more thing. The CDC data[1] identified that parents were concerned about delays at an early age, but that diagnosis didn't occur until over 4 years of age in their sample. I think what the 2006 AAP screening recommendations will do to future data is push diagnosis earlier, because pediatric clinicians will have the tools and the language to better identify concerns.

 

Medscape: You emphasize that children with positive screens should not just continue to be monitored. They need to be referred for a more comprehensive assessment and intervention if appropriate. Is Child Find a reasonable place to start anywhere in the country?

 

Dr. Hyman: Child Find is a federal, unfunded mandate that requires that states and territories provide assessment and intervention for children 0-3 years of age with development delays or at high risk for developmental delays. Children younger than 3 years should be referred to their local early intervention program; children aged 3-21 years are served by the educational system.

 

Child Find does not require that a request for evaluation, either through early intervention or the school system, be made by a healthcare or other professional. A parent who is concerned about their child can make that request as well.

 

Child Find may not be as highly funded in some areas. But the same legal injunction to provide developmental assessment and intervention exists in all states. The federal law requires free and appropriate public education, and although certainly not all states have the same resources, all must provide services.

 

There's been a lot of discussion as to the definition of what is appropriate, and the evidence supporting different degrees of intensity of service and different types of service is another important area of research. But no matter where a family lives, if a child fails a screening test, they should have evaluation either through early intervention or the school system, and services that are appropriate in a broad sense should be offered.

 

Medscape: As an adjunct to your point about the need to educate families about the importance of interacting with their infant, a fairly long-standing recommendation from AAP is that a child younger than 24 months should have no screen time.[9] In your experience, is this a recommendation that the pediatric community and families have embraced?

 

Dr. Hyman: The AAP recommendation of no screen time for the youngest children and 2 hours or less of total screen time for older children is a recommendation that, in our modern time, is felt to be untenable by many families. I think that what we really need to do is educate families on the importance of interacting with babies, toddlers, and even older children. This goes beyond autism and ADHD. This is how we need to combat obesity and promote interaction.

 

Society is changing. How we interact with each other is modified by social media and electronics. Young people interact less face to face, and more electronically. That doesn't make kids autistic. But we have to look at the impact of technology. Kids may have shorter attention spans if they grow up with reliance on media that has relatively short segments of material and requires continual interaction for reinforcement, such as some video games. Violent video games desensitize children to some aspects of violence.

 

We need to use media and use electronics to help educate parents and also as a clever and low-cost way for intervention. We don't want to teach a child to respond only to a screen, but evidence-based intervention can be quite costly. Are there technological ways to extend the workforce and extend treatment? That is, I think, going to be a burgeoning area in the next few years.

 

I think that we've lost sight of the critical role of parents as therapists -- that the interaction that goes on every time you change a child's diaper or interact with them is a way to build communication and social reciprocity. I think that it is critical to make certain that parents understand their role and their responsibilities. Equally, therapists must also understand how important it is to include the parent and make certain that the parent understands what it means when we say that intervention is most effective if early, intense, and generalized to the home environment.

 

The medical home is a really important concept in general pediatric care, but it's even more important for families affected by ASDs. A consistent source of culturally competent, available medical care in a setting that views parents as partners is critical for building the relationship that allows effective identification and screening. Once a child is identified with autism, that setting provides for the care needs of children with chronic illness, such as ASDs. The medical home is a partnership with a professional team to help a family navigate their way through not only early services, but also elementary school, middle, and high school and into adulthood.