Autism Spectrum Disorder (henceforth autism) is a prevalent and life-long condition, with a rate of 1 in 541 by 8 years of age. A strong association between early evidence-based intervention with improved long-term outcomes for children with autism2, 3, 4, 5 is one rationale for the recommendation by the American Academy of Pediatrics (AAP)6 and the Centers for Disease Control (CDC)7 for screening of autism in all children at 18- and 24-months. However, the 2015 US Preventive Services Task Force (USPSTF) asserted that additional data are needed, in part due to a lack of adequate validation of the recommended tools in community samples.8
The CHAT, one of the first validated autism screening tests,9 showed initial promise for screening at 18-months with a high concurrent positive predictive value (PPV). However, at a six-year follow-up, the 18-month CHAT had only identified 38% of autistic children with an autism diagnosis.10 The low sensitivity of the CHAT, and a desire to eliminate its child observation items, led to modifications of the screen, e.g. the Modified CHAT (M-CHAT),11 that also added parent report items. Another modification, the Quantitative CHAT(Q-CHAT),12 changed the dichotomous responses of the CHAT and M-CHAT (yes/no) to ordinal responses (how much/often), to acknowledge that autistic traits lie on a dimension.13
While the M-CHAT is the most widely used autism screening test, it may not exceed the CHAT in long-term sensitivity, in part due to the late diagnosis of autism as reviewed below. Neither the M-CHAT nor the Q-CHAT have been studied in a representative community population of 18-month-olds with validation testing that includes both screen negatives and positives as needed to estimate sensitivity. Furthermore, the different item response approaches of the ordinal Q-CHAT-10 and the dichotomous M-CHAT-R have never been directly compared.
Additionally, the revised M-CHAT (M-CHAT-R) now requires the use of a standardized follow-up clinician-administered interview for most positive screens.14 Of note, during validation studies, the required follow-up interview was conducted by telephone as part of a “two stage screener” process known as the M-CHAT-R/F,14 which increased PPV from 0.14 to 0.48 in a sample of M-CHAT-R screen-positive children at 18- and 24-month well-child visits.15 However, the follow-up interview has an extremely low rate of utilization in primary care settings.16 Even with the follow-up interview, the PPV was lower (0.28) in younger compared to (0.61) older toddlers in one community sample17 and similarly lower (0.36) in younger than in older (0.69) in another.18
Studies also suggest that, over subsequent years, for toddlers who screened both positive and negative on the initial M-CHAT, estimates for M-CHAT sensitivity and PPV are lower than reported in the M-CHAT validation study, with predictive indices lowest for the youngest toddlers. For example, a follow up study in Norway showed that a positive M-CHAT (without follow-up) at 18-months identified only 34% of children with an autism diagnosis by 9-years-old.19 A recent report of screening with the M-CHAT at both the 18- and 24-month well-child visits, whose medical records were reviewed for autism diagnoses as outcomes at 4 to 8 years of age, reported a similar sensitivity of 0.35 for 18-month screening; lower than sensitivity at 24 months (0.49).20 Guthrie, et al. (2019) found that for the 41.2 % of children whose score triggered the follow up portion of the M-CHAT-R/F, the PPV was also higher at the 24-month visit (0.25) than when the same child was screened at 18 months (0.18).20
An obstacle to estimates of prediction of autism diagnoses made years later is that some children may not have had any clinical manifestations at the earlier age and thus negative screens were ambiguous. In addition, longitudinal studies show that an average of 32% of toddlers appear typical at 18 months and then regress between 18- and 24-months;21 one reason the AAP recommends rescreening at 24 months.6 Additionally, recent data from prospective studies of high-risk infant siblings reveal that as many as 45% of those diagnosed with autism at three years were not diagnosed at two years despite comprehensive assessments at that time.22 Prevalence is also reported as 30% higher at ages 8–12 than at 3–7-years old.23 Children identified later with autism tend to have milder symptoms and higher cognitive functioning.24
Screening strategies that are age-relevant and capture the natural emergence of autism are needed to address the screening challenges at 18-months. One solution may be ordinal polytomous (> 2 response options) scoring (“ordinal scoring”) such as the Q-CHAT’s “how much” item responses.12 A 10 item version26 of the original 25 item Quantitative Checklist for Autism in Toddlers (Q-CHAT)12 is particularly suited for primary care because of its brevity and reported sensitivity of 0.91 and specificity 0.89 in a case comparison study.26 However, since data from unselected primary care populations are lacking, we cannot consider this to be a true estimate of sensitivity. Also, while the Q-CHAT uses a five-point frequency response, its standard scoring instruction utilizes a pass/fail cut-off rather than ordinal scoring using the full range of all items. In this study, we compare the predictive utility of the M-CHAT-R, the M-CHAT-R/F, and the Q-CHAT-10 in a representative community sample that includes both toddlers who pass and fail initial screening measures. We also test the Q-CHAT-10 with its original pass/fail scoring and an experimental ordinal scoring to better understand the contribution of ordinal scoring to accurate 18-month screening.