自閉症スクリーニング検査の限界を明らかに(Screening tests for autism miss many children at risk)

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2026-03-27 カロリンスカ研究所(KI)

カロリンスカ研究所の研究チームは、自閉スペクトラム症(ASD)のスクリーニング検査が多くのリスク児を見逃している可能性を示した。一般的な検査手法では感度に限界があり、特に症状が軽度または非典型的な子どもは検出されにくいことが明らかとなった。研究では、現行のスクリーニングのみでは早期診断に不十分であり、複数の評価手法や長期的な観察を組み合わせる必要性が指摘された。早期発見と介入は発達支援において極めて重要であるため、本成果は診断精度向上や医療・教育現場での対応改善に寄与することが期待される。

<関連情報>

新生児高リスク集団における幼児の自閉症に関する修正チェックリスト Modified Checklist for Autism in Toddlers in a Neonatal High-Risk Population

Benjamin Lassebro, MSc; Matilda Morin, PhD; Weiyao Yin, PhD;et al
JAMA Network Open  Published:March 27, 2026
DOI:10.1001/jamanetworkopen.2026.3672

自閉症スクリーニング検査の限界を明らかに(Screening tests for autism miss many children at risk)

Key Points

Question What is the diagnostic accuracy of the Modified Checklist for Autism in Toddlers (M-CHAT) for identifying autism spectrum disorder (ASD) in a neonatal high-risk population?

Findings In this cohort study of 2178 high-risk neonates in Sweden, estimated sensitivity of the M-CHAT was 62.4%; specificity, 91.2%; positive predictive value, 31.4%; and negative predictive value, 97.4% when evaluated against a subsequent clinical ASD diagnosis.

Meaning The M-CHAT’s high specificity but moderate sensitivity for ASD highlights the need for additional tools to improve detection.

Abstract

Importance Autism spectrum disorder (ASD) is a chronic neurodevelopmental condition with both genetic and environmental origins. Early detection is crucial for successful clinical intervention, improving future health, and adaptive functioning.

Objective To assess the diagnostic accuracy of the Modified Checklist for Autism in Toddlers (M-CHAT) in a neonatal high-risk population using subsequent clinical ASD diagnoses as the reference standard and to identify factors associated with the checklist’s accuracy within this group.

Design, Setting, and Participants This prospective, population-based cohort study identified children born in Sweden between January 1, 2013, and December 31, 2019, from the Swedish Neonatal Quality Register. Children were included if they were screened for autism using the checklist at corrected age 16 to 30 months. Follow-up for ASD in the National Patient Register extended from the day after inclusion or chronologic age 2 years, whichever occurred last, until December 31, 2022. Data were analyzed between June 6, 2024, and June 16, 2025.

Exposure Autism screening with the M-CHAT at 24-month neonatal follow-up.

Main Outcomes and Measures The primary outcome was the first recorded ASD diagnosis within the Swedish health care system among children categorized into the following neonatal high-risk groups: extremely preterm, small for gestational age, morphologic brain damage, neonatal encephalopathy, or other severe morbidity at birth. Diagnostic accuracy of the checklist was estimated using sensitivity, specificity, positive predictive value, and negative predictive value.

Results Among the 2178 children included in the study (median [IQR] corrected age at assessment, 26 [23-30] months; 1210 boys [55.6%]), 263 (12.1%) had positive screens. The overall sensitivity of the checklist was 62.4% (95% CI, 54.3%-69.7%); specificity, 91.2% (95% CI, 90.1%-92.4%), positive predictive value 31.4% (95% CI, 26.0%-37.1%), and negative predictive value 97.4% (95% CI, 96.7%-98.0%). Within the neonatal high-risk groups, children born extremely preterm had the highest proportion of positive screens and ASD diagnoses.

Conclusions and Relevance This cohort study found that in high-risk neonates, the M-CHAT had high specificity but moderate sensitivity when evaluated against later ASD diagnoses, highlighting the need for additional tools to improve detection.

 

医療・健康
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