Autism screening and diagnosis in children with congenital heart disease

Scritto il 01/07/2026
da Nuria Lisset Ontiveros Perez

Front Pediatr. 2026 Jun 16;14:1839114. doi: 10.3389/fped.2026.1839114. eCollection 2026.

ABSTRACT

AIM: This study determined the prevalence of positive autism screening results at 18-30 months of age and the presence of an autism diagnosis among children with congenital heart disease (CHD).

METHODS: Secondary analysis of data from Stanford site of California Perinatal Quality Care Collaborative and Lucile Packard Children's Hospital electronic health records. Participants (N = 94) were children born between 2016-2020 with CHD who required surgery before discharge from the intensive care unit and had a High-Risk Infant Follow-Up (HRIF) visit at age 18-30 months. Heart disease was classified as cyanotic or acyanotic. Outcomes were results of the Modified Checklist for Autism-Revised/Follow-up (M-CHAT-R/F) at the HRIF visit and evidence of a subsequent autism diagnostic code. We compared sociodemographic, clinical, and medical factors across screen results and autism diagnosis.

RESULTS: Prevalence of positive autism screens was 14.6% and autism diagnosis was 11.7%. The factor associated with screen results was age; children with positive screens were younger than children with negative screens. Use of public insurance and Risk Stratification for Congenital Heart Surgery-2 scores were higher in children with autism. Performance of M-CHAT-R/F in relation to autism diagnosis showed sensitivity of 66%, positive predictive value of 57%, and higher specificity and negative predictive values.

CONCLUSION: In this sample, children with CHD were >3 times more likely to have positive autism screens and the diagnosis of autism than children in the general population. Early screening for autism is critical in children with CHD to promote early diagnosis and intervention.

PMID:42382645 | PMC:PMC13314728 | DOI:10.3389/fped.2026.1839114