Our children are not being adequately screened for Autism

by Dr. Alan Kadish NMD

One of the unfortunate and consistent issues we see in our practice is the late recognition of autism. It’s not unusual to see signs and symptoms of ASD within the first 18 months. There is a growing body of screening in pediatric clinics however, the tools used need to be more accurate and encompace all children, regardless of their socioeconomic status and location.

A study done at 20 Utah clinics  and published in Pediatrics using the Modified Checklist for Autism in Toddlers, with Follow-up, known as the M-CHAT/f means of testing has an overall sensitivey of just 33%…..and is one of the major methods used by both family medicine and pediactric clinics. Would you bet on a test with this low a sensitivity ?

For years the Autism Research Institue has been using a test with higher fidelity known as the Autism Treatment Evaluation Checklist, abbreviated as the ATEC. It’s free to use online or if you prefer a copy, just drop us an email. It uses a comprehensive check list of behaviors, consisting of 4 subtests: I. Speech/Language Communication (14 items); II. Sociability (20 items); III. Sensory/ Cognitive Awareness (18 items); and IV. Health/Physical/Behavior (25 items) that allows you and others to evaluate on an ongoing basis changes.

Newer but still not integrated tools that do independant assessments include another objective evaluation method, such as the use of a single electode on the forehead to detect brain waves, EEG’s response to visual stimulation. The announcement by a Dartmouth-led research team “New study shows how autism can be measured through a non-verbal marker How a visual test can help screen for autism” is one of the many new breakthroughs. They acheived an accuracy of 87% with this simple testing technique.

As another option newly published research piece in Digital Medicine, has shown a 73% accuracy by using visual cues interpetrations, following a 7 minute presentation to the adults in the study using an automated analysis of facial expressions, gaze behavior, and voice characteristics. 

The NODA — the Naturalistic Observation Diagnostic Assessment (NODA) system is a smartphone-based system that lets parents record and send videos to our Center for analysis, in advance of an on-site evaluation and significantly shorten the length of time they are in the office. It gives us direction into the areas to address as well as directing us towared other tool for diagnostics and treatment.

New genetic evaluation panels have been increasing their scope and interpretation abilities over the years and can also lead to functional interventions.

As a parent or caregiver consider moving forward on both using effective tools for evaluation and therapy.

Take Aways:

        Waiting for an evaluation is not appropriate, the sooner you know the faster positive changes can be made.

        Your options for testing keep increasing and becoming more accurate.

        Interventions including biomedical treatment is available and scientifically validated.

        Ancillary therapies, including speech, behavioral and physical therapies make changes.

Autism Screening: Time to Focus on Quality Over Quantity | MedPage Today

Most children are being screened for autism spectrum disorder, but disparities remain, an analysis of 20 Utah clinics indicated.
Among 36,223 toddlers who came in for check-ups at 18 and 24 months, about three-quarters of children were screened at one of those time points (72.8%) and half of children were screened at both (54.4%), reported Paul S. Carbone, MD, of the University of Utah in Salt Lake City, and colleagues.
Overall, the sensitivity and positive predictive value (PPV) of the Modified Checklist for Autism in Toddlers with Follow-Up (M-CHAT/F) used for screening was lower than expected, at 33% and 18%, respectively, the researchers wrote online in Pediatrics.
However, Hispanic children were screened at significantly lower rates than white children (adjusted prevalence ratio 0.96, 95% CI 0.93–0.90,P<0.009), and the rate at which family physicians screened kids was far lower than that of pediatricians (APR 0.12, 95% CI 0.09–0.15,P<0.001), the team added.
“Several studies, including ours, show we have come a long way in screening the majority of children for autism, but we have to now start thinking in terms of quality,” Carbone toldMedPage Today.”What are each of the steps in the screening process, and how can we improve them at the practice level and the healthcare level so families don’t fall through the cracks?”
In 2007, the American Academy of Pediatrics recommended universally screening all children for ASD at 18 and 24 months. The American Academy of Family Physicians does not have the same recommendations, despite family physicians providing 16-21% of the nation’s pediatric care, the researchers noted.
Because ASD is relatively uncommon and diagnostic signs are not always apparent in a brief clinical encounter, efforts to reduce the age of diagnosis and ameliorate disparities in identifying children with ASD have “only recently begun to move the needle,” commented Kate E. Wallis, MD, MPH, and Whitney Guthrie, PhD, both of the Children’s Hospital of Philadelphia, in an accompanying editorial.
Wallis and Guthrie noted that the sensitivity and PPV of the M-CHAT/F were similarly low in a 2019 study they conducted,at 38.8% and 14.6%, respectively. Together, the studies highlight the importance of real-world data and suggest that “far fewer children who screened positive went on to be diagnosed with ASD,” than what has been observed in research settings, the editorialists noted.
In the study by Carbone and colleagues, children who screened positive for ASD were still 17 times more likely to later be diagnosed with ASD than children who screened negative and were 10 times more likely to be diagnosed than children who were not screened.
At the time of ASD diagnosis, those with a positive screen were also about 12 months younger than children with a negative screen and 10 months younger than those not screened, the researchers noted.
Wallis and Guthrie said this suggests “a key role of screening in lowering the age of diagnosis for children whom the M-CHAT helped identify,” but also reveals that “the majority of children with ASD were in fact missed by the M-CHAT and thus did not receive the benefit of universal screening.”
All in all, it appears there is a “ceiling” to the number of children with ASD who can be detected through the M-CHAT and other existing screening tools, and the findings suggest “we need new ways of thinking about ASD screening,” like using more objective measures or physicians examining developmental trajectories over time like they do with physical growth charts, Wallis and Guthrie said.
They added: “Importantly, as we develop these solutions, we need to think about implementation early in the process and move toward testing in real-world settings sooner rather than later.”
The study used electronic health records obtained between 2013 and 2016 from the Intermountain Healthcare system in Utah. Providers documented whether the M-CHAT was completed at 18- and 24- month visits, and whether it was positive or negative. These data were linked to ASD diagnoses in electronic health records (EHRs), as well as data from qualitative interviews with physicians in 12 of the participating clinics.
The cohort — 48.3% female — were mostly seen by pediatricians (94.4%) and were privately insured (58%). Most were non-Hispanic white (82%), with a smaller proportion of Hispanic (10.9%), Black (1.2%), and Asian (2.3%) children. The majority lived in urban or suburban areas (67%), and came from families in the two highest socioeconomic quintiles (23% and 27%).
In total, 1.4% of screened children were diagnosed with ASD, of whom 67% had screened negative during at least one time point, Carbone reported.
The sensitivity of the M-CHAT was significantly higher among children who were screened twice versus once (27% vs 41%), highlighting the importance of the second screening, Carbone said.
“What that tells you is you’re weeding out some of those false negatives and identifying those children better,” he added.
The team could not clinically confirm an ASD diagnosis and instead relied on EHR data, which is a limitation, Carbone said. Also, data from the Utah health system used in the analysis may not be representative of other patient populations, and it was not possible to know how frequently the M-CHAT was available in Spanish across clinics, the researchers noted.
Elizabeth Hlavinka covers clinical news, features, and investigative pieces for MedPage Today. She also produces episodes for the Anamnesis podcast. Follow
Disclosures
The study was funded by the University of Utah Population Health Research Foundation, the National Center for Research Resources and the National Center for Advancing Translational Sciences, and the National Institutes of Health (NIH).
Carbone reported having no financial relationships relevant to the article to disclose; a co-author reported inventing a patent related to autism screening.
Wallis and Guthrie reported funding from the National Institute of Mental Health and the NIH.

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Dr. Kadish is an unusual physician often referred to as a "doctor detective". His expertise is the evaluation and treatment of complex disorders, typically after other physicians have been stumped, is renowned. He provides care for all family members and has additional training in autistic spectrum disorders and chronic complex diseases.