Primary Care Autism Screening and Later Autism Diagnosis

Abstract

OBJECTIVES:To describe the proportion of children screened by the Modified Checklist for Autism in Toddlers (M-CHAT), identify characteristics associated with screen completion, and examine associations between autism spectrum disorder (ASD) screening and later ASD diagnosis. METHODS:We examined data from children attending 18-and 24-month visits between 2013 and 2016 from 20 clinics within a health care system for evidence of screening with the M-CHAT and subsequent coding of ASD diagnosis at age .4.75 years. We interviewed providers for information about usual methods of M-CHAT scoring and ASD referral.RESULTS: Of 36 233 toddlers, 73% were screened and 1.4% were later diagnosed with ASD. Hispanic children were less likely to be screened (adjusted prevalence ratio [APR]: 0.95, 95% confidence interval [CI]: 0.92-0.98), and family physicians were less likely to screen (APR: 0.12, 95% CI: 0.09-0.15). Compared with unscreened children, screen-positive children were more likely to be diagnosed with ASD (APR: 10.3, 95% CI: 7.6-14.1) and were diagnosed younger (38.5 vs 48.5 months, P , .001). The M-CHAT's sensitivity for ASD diagnosis was 33.1%, and the positive predictive value was 17.8%. Providers routinely omitted the M-CHAT follow-up interview and had uneven referral patterns.CONCLUSIONS: A majority of children were screened for ASD, but disparities exist among those screened. Benefits for screen-positive children are improved detection and younger age of diagnosis. Performance of the M-CHAT can be improved in real-world health care settings by administering screens with fidelity and facilitating timely ASD evaluations for screen-positive children. Providers should continue to monitor for signs of ASD in screen-negative children.WHAT'S KNOWN ON THIS SUBJECT: Universal autism screening in toddlers is recommended, but it is unknown how frequently this occurs, what factors are associated with screening, and the performance characteristics of the most commonly used screening instrument in real-world health care settings.WHAT THIS STUDY ADDS: Autism screening was completed in the majority of toddlers but was less likely to occur in Hispanic children. Children who screened positive were more likely to be diagnosed with autism and were diagnosed earlier, but falsenegative screens were common.

Early Diagnostics and Early Intervention in Neurodevelopmental Disorders—Age-Dependent Challenges and Opportunities

“…In low risk populations the follow-up interview is associated with better prediction, but a similar improvement is not present in high risk groups consisting of children with a sibling diagnosed with ASD (familial risk of ASD) [ 126 ]. Two large studies in the general population reported that M-CHAT-R/F has sensitivities of 33–39% and specificities of 95–98% to detect ASD [ 127 , 128 ]. One of them [ 127 ] indicated that sensitivity at 16–20 months was lower than that at 21–26 months.…”

<p>Pharmacological Intervention in Children with Autism Spectrum Disorder with Standard Supportive Therapies Significantly Improves Core Signs and Symptoms: A Single-Center, Retrospective Case Series</p>

“…1,2 While the symptoms of ASD can manifest before 2 years of age, they usually become more apparent between 2 and 3 years of age. 1,3 Patients with ASD are all unique in their presentation; however, the disorder is characterized by core symptoms that include impairments in social interaction and communication, as well as the presence of restricted and repetitive behaviors. 1 These symptoms are universal regardless of culture, race, ethnicity, or socioeconomic group.…”

To reduce the average age of autism diagnosis, screen preschoolers in primary care

“…In the 14 years since the initial AAP screening recommendation, ASD prevalence has increased dramatically (Maenner, 2020), and screening for ASD in primary care has become commonplace. Some estimates suggest that that over 50% of US toddlers are screened for ASD in primary care (Arunyanart et al, 2012), although significant local variability exists (Carbone et al, 2020; Wallis et al, 2020). Increased screening has likely contributed to a decrease in the age of autism diagnosis in the United States: recent data from the Early Autism and Developmental Disabilities Monitoring Network suggest that the percentage of children with ASD diagnosis by the age of 4 years has changed from 58% in 2014 to 71% in 2018 (Shaw et al, 2020).…”

“…The fact remains that despite widespread autism screening, the majority of children are not being identified with ASD until well past the toddler ages, and this age is even higher for children from low-income and or racial/ethnic minority backgrounds (Durkin et al, 2017; Maenner, 2020). Studies have demonstrated a variety of reasons for diagnostic delays such as (1) not all children attend primary care as toddlers, (2) not all of those who attend are screened for ASD, and (3) not all those who are screened are referred for ASD evaluation (Carbone et al, 2020; Guthrie et al, 2019; Wallis et al, 2020). Furthermore, emerging evidence suggests that ASD screening tools have limited sensitivity—meaning that some children who screen negative on toddler screens go on to receive an ASD diagnosis (Guthrie et al, 2019).…”

“…Furthermore, emerging evidence suggests that ASD screening tools have limited sensitivity—meaning that some children who screen negative on toddler screens go on to receive an ASD diagnosis (Guthrie et al, 2019). Predictive values of ASD screening questionnaires are low (Carbone et al, 2020; Guthrie et al, 2019; Robins et al, 2014), particularly for cases near the cutoff score—which may contribute to the fact that children with positive screening test results often are not referred (Carbone et al, 2020; Monteiro et al, 2019; Sheldrick & Garfinkel, 2017; Wallis et al, 2020). As a result, screening of toddlers is only a partial solution to delays and disparities in age of ASD diagnosis.…”