Has the "autism epidemic" gotten you spooked and feeling helpless?

Does seeing even one lovely, apparently normal-looking toddler in your practice become an isolated, self-absorbed, autistic preschooler break your heart and give you an extra edge of worry over every child you see?

As a primary care pediatrician, you can do a few important things to help your patients and also to assure yourself that you are doing your part (although this article is intentionally limited in scope).

The first thing to remember is that autism can be detected at a very young age via validated parent-report screening tools. Once it’s been detected, early intervention – available for free through state programs nearly everywhere, or through private services – can make a substantial difference in producing long-term outcomes of better communication, better social interaction, and the ability to be in mainstream school classes.

Use a validated screening tool such as M-CHAT (Modified Checklist for Autism in Toddlers) or CSBS DP (Communication and Symbolic Behavior Scales Developmental Profile). Both are free. The American Academy of Pediatrics recommends using a specific screen for autism twice, at 18 months and again at either 24 or 30 months on all children, whether you or the family have concerns or not. Repeated screening is needed because of the relatively common (25%-50%) occurrence of apparent regression from 18 months to 3 years in autistic children.

How can these tools detect autism more effectively than can parental concern? Screeners ask about specific examples of critical but subtle aspects of social interaction that are core features of autism, but are not things that parents typically think about. A key deficit is in autism is "joint attention," a form of social-emotional reciprocity, referring to the child’s seeking to share their interests or being interested in something shared by others; it typically develops in the second half of the first year and is consistent by 14 months. Although joint attention makes toddlers great fun as you share the excitement of seeing the world through their eyes, it is also critical to learning from the experiences of others. Like eye contact, joint attention may not be totally absent in toddlers with autism, but it is notably weaker and inconsistent.

The other two core features of autism are a qualitative impairment in communication, and restricted or repetitive behaviors. The wide range of normal language development in toddlers results in some false-positive screens for autism, which actually represent either variations in language acquisition or true delays or disorders of language development that deserve intervention but do not require the scary label of possible autism. At least two kinds of restricted behaviors – not just repeated movements like flapping – will be required in the new DSM-5, one of which can be hypo- or hypersensory reactivity. Keep in mind that many normal toddlers have funny gestures or habits that parents endorse in the screening tool (such as "unusual finger movements near his/her face") but that are actually quite common in typically developing children.

No screening tool is perfect, however, especially those based on parent report. Less-well–educated parents are more likely to misinterpret items, and – in my experience – more-anxious parents overinterpret behaviors as abnormal as they worry their way through the early years. One way to reduce overreferrals via M-CHAT is having you or another trained professional administer the M-CHAT follow-up interview, a validated algorithm for asking specific questions to refine or obtain examples of the child’s behavior related to those items contributing to the failed score. This interview can be done via a paper manual (and may require a separate visit because of the extra time required) or via an electronic decision-support system such as CHADIS (Child Health and Development Interactive System) that efficiently selects the right items for review and rescores the result.

In addition to the screen, the interview can be billed under CPT code 96110. Many states and insurers allow two 96110 codes at the same. A new scoring method called Best7 by the authors of the M-CHAT considers a failure of any two of seven critical items (numbers 2, 5, 7, 9, 14, 15, and 20). When both standard scoring (failure of two critical items [numbers 2, 7, 9, 13, 14, and 15] or three total items) and Best7 scoring are used, there are fewer missed cases but more referrals.

Use your clinical judgment, even when a screening tool is passed, to pursue evaluation for a child who does not relate or who seems not to be developing as you would expect. One tricky example is the toddler or preschooler who, as his parents proudly report, can "read." If this is a skill that the child exercises repeatedly to the exclusion of more-typical play, or if the child has other peculiarities of interaction, this "hyperlexia" may actually not be a gift, but rather a sign of autism, and it should not reassure you that all is well.

And then comes the Big Gulp: the moment when you need to tell the parents that their child has failed a screen for autism. You are better prepared for this than you might think, as this conversation requires the same skills you have used to interpret tests and x-rays in the past.

I start out reminding parents about the questionnaire, and reiterate that this screen was "done to detect any problems in development, language, or interaction (such as autism or language delays) that need to be addressed." It is only fair to let parents know that the screen was for autism, even though the "A" word is one that evokes panic that we wish we could avoid. "Autism" can be rolled in with some of the other possible reasons for a "fail" score in your discussion. It is much worse for parents to hear this word for the first time in the course of an evaluation by strangers than it would have been from you.

If you have done the M-CHAT follow-up interview, you will have their examples of the child’s concerning behaviors. If not, ask for examples – even if you are certain there is a problem – to have specific behaviors to refer to when you next recommend further evaluation. Using structured items to interact with the child yourself – such as PAFOS (Pediatric Autism Features Observation Scale) in CHADIS, or the Autism Mental Status Examination – will give you more confidence as well as data to help you convince the parents about referral. Although your own data may aid communication, primary care observations are not reliable predictors, so the lack of confirmatory observations should not deter referral.

Instead, use them to say, "Did you notice how, when I pointed to the light, Aaron did not look up or show any interest?" and then ask if the parents have noticed this and what they think is the reason. You can go on to say that the responsive behavior is "something we expect at this age. Sometimes children who are not interested in things that are pointed out to them have a problem like autism. There are good ways to teach a child these skills, but first we need to be sure if this is a problem for him."

With any bad news, I want to be sure that the family knows that I am on their side and will work with them through anything necessary that results from a referral. I like to say, "I hope I am wrong, but we need to find out" in order to leave the family essential room for hope.

No screening test is perfect, nor is any informal observation in the course of a visit – you can say this, too. Autism is a very difficult condition to explain, and asking one parent to convey the message to the other caregivers on his or her own is not ideal. I always offer to make a call or another visit to explain my concerns to the other caregivers if the parent would like this support. It is well known that referrals are more likely to be completed when family members agree that there is a significant problem, that intervention can be helpful, and that there is family support for going. Given the critical importance of the earliest intervention possible to optimize outcome, working carefully in making a referral for treatment is well worth the effort.

Whether the family initially accepts evaluation or not, ensuring a follow-up visit with you is critical. That requires a tracking system or registry for children with positive screens, which is something electronic health records do not usually do. Whether because of cost, availability of appointments, psychological denial, or lack of family agreement, a surprisingly low percentage of parents follow through on referrals, even with the current public awareness of autism. It is crucial that you see the child again within a few months to check on their status, the results of any testing, and family acceptance. If there is a different diagnosis – such as a language delay – then support the family in addressing it.

When a child screens positive, it is important to initiate a referral for intervention at the same time as referral for a more-definitive assessment, unless evaluations are readily available. The precious months spent waiting for a full evaluation can be a very valuable time of intervention to help the child progress and also to contribute "response to intervention" information that can help with diagnosis and/or school placement.

This column, "Behavioral Consult," regularly appears in Pediatric News, an Elsevier publication. Dr. Howard is an assistant professor of pediatrics at Johns Hopkins University, Baltimore, and creator of CHADIS (www.CHADIS.com). She has no other relevant disclosures. Dr. Howard’s contribution to this publication was as a paid expert to Elsevier. E-mail her at pdnews@elsevier.com.

Don't Be Spooked by Autism