This study aimed to quantify the prevalence of autism spectrum disorder (ASD) in patients with non-syndromic orofacial clefts (OFCs) and to examine associated socio-demographic, phenotypic, and genetic factors. As a secondary objective, we evaluated ASD prevalence in the full OFC cohort, including syndromic cases, to provide context and enable comparison between groups.
Design
A retrospective chart review was performed in this study.
Setting
This study was conducted in a multidisciplinary cleft/craniofacial clinic at a tertiary children's hospital.
Patients
A total of 412 patients with OFC (ages 2–20) were evaluated between 2019 and 2024.
Main Outcome Measures
The main outcome measures of interest were the occurrence of ASD diagnosis or concern, association with syndromic status, cleft phenotype, and socioeconomic context (measured using the Area Deprivation Index [ADI] and Child Opportunity Index [COI]).
Results
Overall, 7.0% of patients had a confirmed ASD diagnosis, and 7.5% had documented concern for ASD. Among patients with non-syndromic OFC (n = 293), 7.8% had a confirmed ASD diagnosis, which is 3.9 times higher than prior pooled estimates. When categorized by cleft phenotype, ASD diagnosis was highest in patients with cleft palate (CP) only (9.8%). Among non-syndromic patients, ASD was associated with higher ADI and lower COI scores, suggesting greater socioeconomic disadvantage; no associations were seen in the syndromic group. Genetic testing was pursued more frequently in patients with ASD, though pathogenic variant rates were not significantly different.
Conclusion
ASD was more common among patients with non-syndromic OFC than previously reported in the literature or expected based on general population rates. Children with CP and those from disadvantaged backgrounds may be at particularly elevated risk within the current sample. Routine developmental surveillance in all OFC patients may support earlier ASD identification and intervention.
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