Autism Spectrum Disorder in the Cleft Population: Evaluating Occurrence in Non-Syndromic Patients.

Area of Science:

• Pediatric Health
• Developmental Pediatrics
• Genetics

Background:

• Orofacial clefts (OFCs) are common birth defects, and co-occurrence with neurodevelopmental conditions like autism spectrum disorder (ASD) warrants investigation.
• Understanding the prevalence and associated factors of ASD in OFC populations is crucial for early identification and intervention.

Purpose of the Study:

• To quantify ASD prevalence in patients with non-syndromic OFCs.
• To examine socio-demographic, phenotypic, and genetic factors associated with ASD in this population.
• To compare ASD prevalence in syndromic and non-syndromic OFC cases.

Main Methods:

• Retrospective chart review of 412 patients (ages 2-20) with OFC.
• Evaluation of ASD diagnosis or concern, syndromic status, cleft phenotype, and socioeconomic indices (Area Deprivation Index [ADI], Child Opportunity Index [COI]).

Main Results:

• Overall, 7.0% of OFC patients had ASD diagnosis; 7.8% of non-syndromic OFC patients had ASD, 3.9 times higher than prior estimates.
• ASD diagnosis was highest in non-syndromic cleft palate (CP) only (9.8%).
• In non-syndromic OFC, ASD correlated with higher ADI and lower COI, indicating socioeconomic disadvantage.

Conclusions:

• ASD is more prevalent in non-syndromic OFC patients than previously reported.
• Children with CP and those from disadvantaged backgrounds appear to have an elevated risk for ASD.
• Routine developmental surveillance in all OFC patients is recommended for early ASD identification and intervention.