Many people recall precisely where they were and what they were doing when a shocking event took place. Time seems to stop as if to allow us the opportunity to process the unthinkable, and the details appear clearly, as if on a screen in your mind. Two weeks ago I experienced such a moment, when the U.S. Preventive Services Task Force issued a draft statement withholding support for universal autism screening for 18- to 30-month-olds.
The organization, an independent panel of experts in prevention and evidence-based medicine, took a stance against recommendations from other medical groups such as the American Academy of Pediatrics, stating: “The current evidence is insufficient to assess the balance of benefits and harms of screening for ASD [autism spectrum disorders] among children for whom no concerns of ASD have been raised by the parent or the clinical provider.”
So where was I when I heard this stunning news? I was at the Children’s Evaluation and Rehabilitation Center at Albert Einstein College of Medicine, where I am the director of Infant and Toddler Services, seeing two new patients. Both cases highlight a basic flaw in the task force’s reasoning, namely that symptoms of autism in young toddlers are readily recognized by parents and pediatricians.
When parents and doctors miss the signs
The first patient was a 19-month-old whose parents had sought evaluation for their toddler due to a tendency to walk on tiptoe “like a ballerina.” That was the parents’ only concern. Autism was not mentioned and the child’s pediatrician had not been involved in the referral. The toddler had minimal language. (His parents reported proudly that he was able to count.) He didn’t respond when called, didn’t yet point or show his parents things of interest. He didn’t imitate. In short, he has autism. This child’s clinical profile would have been picked up quickly by an autism-screening instrument. If he hadn’t come to a diagnostic center for toe-walking, and he wasn’t screened otherwise, how long would it have taken to diagnose this obviously autistic child? My next patient provided an answer to that question.
Ignored concerns lead to delayed treatment
This patient was almost 4 years old. Autism symptoms were obvious, yet there had never been an evaluation, there was no diagnosis and the child had not received services. The mother raised concerns when he was 20 months old and not yet speaking, but his pediatrician assured her that “boys talk late.” The child started to talk around 2 and the mother relaxed. But not all talking is communication. During our lengthy session, the child’s communication consisted of repetition of favorite movie dialogue. He was unable to use language functionally to get his needs met. Rather, he put his mother’s hand on objects he wanted or simply threw tantrums. This child’s story shows how necessary a standardized screening instrument is for pediatricians and other healthcare providers.
Why signs of autism get missed
The task force seems to think that these problems are picked up by parents or pediatricians without the use of any instrument and that the screening instruments are picking up milder versions of the condition. My 25 years of experience on the front line of providing developmental care to young children does not support either of those assumptions.
Young children with ASD picked up on screening instruments are not asymptomatic. They are showing symptoms, but the behaviors the children are demonstrating are not appreciated by either the parents or the pediatricians as indicative of autism.
When I teach pediatric residents about the signs of ASD in toddlers, I usually say: “If you are waiting for the child to come in flapping and spinning or displaying other ‘classic signs of autism’ before you think of the diagnosis, you will miss every toddler with ASD because they generally don’t show those telltale signs.” Their early symptoms are more subtle, relating to a lack of social communication efforts, and don’t indicate a milder condition.
The value of a screening instrument is that it forces parents and pediatricians to go through these subtle signs in an organized and purposeful manner at two specific medical appointments: 18 and 24 months. The instruments also serve to educate parents and pediatricians about what should be expected: Does your child respond when you call his name? Show you things of interest? Do things just to get your attention? Such questions give parents skills to encourage in their young children, suggest what to look for in proper social communicative development and provide the vocabulary to voice concerns if the child is not showing such development.
Diagnosis delays and disparities
The task force’s review of the literature found evidence supporting the ability of screening instruments to pick up behavioral signs of autism in young toddlers. The review also found data supporting the benefit of early intervention in terms of improved outcome. However, it determined that there were insufficient data to support a recommendation for screening. This decision seemed to hinge on the lack of outcome data on young children who were “asymptomatic” and whose symptoms were picked up only by screening. But these children don’t exist. Children who fail screening tests are symptomatic and demonstrating signs and symptoms of autism—but these signs are not being recognized or voiced until the screenings are carried out.
Waiting until the signs and symptoms are evident to parents and pediatricians takes us back to where we were a couple of decades ago. It will delay diagnosis, delay treatment and impact outcomes. These delays will also likely lead to more-significant disparities of care, since the literature has shown that minority populations are less likely to bring their concerns to their doctors and doctors may be less likely to pursue an autism diagnosis in such populations. Universal screening levels the identification playing field.
We live in an era in which 1 in 68 children is diagnosed with ASD. A timely diagnosis—during the critical window of the toddler years—is required in order to obtain the early intensive behavioral intervention that has been shown to result in the best outcomes. Discouraging universal, early screening is an indefensible course of action.
In the “balance of benefits and harms” that the task force’s draft statement speaks of, a well-documented benefit should carry more weight and be given extra consideration over “harms” of inconvenience. That is where common sense comes in.