The association between autism spectrum disorder and congenital malformations: a population-based nested case-control...

Area of Science:

• Developmental Pediatrics
• Autism Spectrum Disorder Research
• Congenital Malformations

Background:

• Autism spectrum disorder (ASD) is a complex neurodevelopmental condition.
• Congenital malformations (CM) are structural or functional abnormalities present at birth.
• The association between CM and ASD requires further investigation.

Purpose of the Study:

• To investigate the association between specific congenital malformations (CM) detected at birth and the likelihood of developing autism spectrum disorder (ASD).
• To identify potential sex-specific CM as early markers for ASD risk.

Main Methods:

• A case-control study nested within a 12-year birth cohort from the Israel National Birth Registry.
• Included 2099 ASD cases and 1:1 age- and sex-matched controls.
• Adjusted for birth weight, parental age, ethnicity, and maternal immigration.

Main Results:

• CM were more prevalent in the ASD group (OR 1.75).
• Circulatory and urogenital CM were most common in ASD cases.
• Genital CM were associated with ASD in males (aOR 2.24), while non-genitourinary CM were linked to ASD in females (aOR 3.47).

Conclusions:

• Congenital malformations, particularly genitourinary in males and circulatory in females, are more prevalent in newborns diagnosed with ASD.
• These sex-specific CM may serve as valuable pre- and postnatal markers for ASD.
• Findings may guide future research into the genetic and prenatal factors underlying ASD.