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).
Dr. Barbara J. Howard
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.