Скрининг не заменяет диагностику: исследователи выявили критические разрывы в системе раннего выявления аутизма у детей

A Pediatric Investigation study finds that early autism identification can fail after screening, with gaps in referral, diagnosis, service capacity, and support. Reviewing evidence across children aged 0-5 years, researchers show that screening can accelerate diagnosis for some children but cannot replace repeated surveillance or clinical concern. The findings support faster, more coordinated and equitable pathways that help families reach assessment and needs-based support sooner, even before diagnostic certainty is complete. Early autism identification is often framed as a race to find the best screening tool. A narrative review argues that the bigger challenge may come after a concern is noticed: families can face gaps between screening, referral, diagnostic assessment, and support. These gaps can be especially difficult for families who are unsure which service to contact or how long they may need to wait. For children aged 0-5 years, screening can signal increased likelihood of autism, but it cannot confirm or safely rule out the condition. Early concerns may also change as children develop, making continued observation important. The research was led by research assistant Ruslan Kurmashev from the Department of Biological Sciences at Munster Technological University, Cork, Ireland. The review examined evidence from major biomedical databases and guidance resources, focusing mainly on literature published from 2010 to April 2026. The authors organized evidence around screening, concern, referral, diagnostic waiting and service capacity, disparities, and earlier support before diagnostic closure. Kurmashev's contribution included developing the pathway-based framework that connects developmental concern, screening, referral, diagnostic assessment, and support, and identifying measurable indicators for key transitions. The review was published on August 14, 2026, in the journal Pediatric Investigation. The review found that screening does not always work as well in routine healthcare as it does in research studies. In one study of 25,999 toddlers, the screening tool identified fewer than 4 in 10 children later diagnosed with autism. In another study of 36,233 toddlers, children who screened positive were diagnosed earlier - at about 38.5 months compared with 48.5 months for those who did not screen positive. This suggests that screening can help some children move through the pathway sooner, even when it does not identify every child who may need assessment. The review also found gaps after screening. In one study, only 31% of children who failed an autism screen were referred for specialist assessment. In another, 40.2% of children who screened positive received at least one recommended referral, but only 3.7% received all recommended referrals. A negative screening result should not end follow-up, because some developmental differences become clearer over time. "Screening should be treated as an entry point to a responsive pathway, not as a diagnosis or a finish line," Mr. Kurmashev said. "When concern remains, families need next steps, repeat surveillance and timely access to assessment and support, regardless of whether one screening result was positive or negative." Limited services can add to delays. A UK survey found that only 17.9% of autism assessment services always met national guidance. Referrals increased by 115% between 2015 and 2019, while 75.8% of services reported that their funding had stayed the same or decreased. One study found that families waited an average of 375 days for a diagnosis. The review also found that access can vary because of language, cost, location, cultural differences and difficulty navigating services. In one Australian study, adding an autism screening tool to regular developmental checks did not significantly improve identification. The authors say that services should focus not only on screening, but also on making sure families receive fair and timely access to assessment and support. "Our goal is not to argue against screening, but to move the focus toward what happens after concern is recognized," Mr. Kurmashev said. "A faster, more coherent pathway could help services act on developmental needs while diagnostic uncertainty is still being resolved." The review points to practical changes: repeat surveillance after negative or ambiguous screening, closed-loop referral tracking, family navigation, coordinated assessment, structured triage and needs-based support before formal diagnostic closure. These changes could encourage collaboration among pediatricians, primary care teams, developmental specialists, researchers and community services. Overall, better coordination could help families reach assessment and support sooner in the short term. Over five to ten years, pathway-based measurement could encourage health systems to invest in workforce capacity, culturally responsive services and more equitable routes from concern to care. Source: Journal reference: Kurmashev, R., & Karaieva, M. (2026). Failure points in the early autism identification pathway for children aged 0–5 years: Why screening is not diagnosis. Pediatric Investigation. DOI: 10.1002/ped4.70079. https://onlinelibrary.wiley.com/doi/10.1002/ped4.70079