Rate and Risk Factors Associated with Autism Spectrum Disorder in Congenital Diaphragmatic Hernia

Enrico Danzer1, Casey Hoffman2, Jo Ann D'Agostino2

  • 1The Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, 5th Floor Wood Center, 3615 Civic Center Blvd, Philadelphia, PA, 19104-4318, USA. danzere@email.chop.edu.

Insights

Children with congenital diaphragmatic hernia (CDH) have a significantly higher rate of autism spectrum disorder (ASD). Regular screening for ASD in CDH survivors is recommended due to this increased prevalence.

Area of Science:

  • Pediatric Surgery
  • Developmental Pediatrics
  • Neuroscience

Background:

  • Congenital diaphragmatic hernia (CDH) is a serious birth defect.
  • Autism spectrum disorder (ASD) is a complex developmental condition.
  • The relationship between CDH and ASD requires further investigation.

Purpose of the Study:

  • To determine the prevalence of ASD in CDH survivors.
  • To identify predictors and risk factors for ASD in this population.

Main Methods:

  • A cohort of 110 CDH survivors (06/2004-09/2015) underwent neurodevelopmental testing.
  • Screening for ASD was performed, followed by diagnostic evaluation when indicated.
  • Univariate and multivariate analyses were used to identify risk factors.

Main Results:

  • CDH survivors exhibited a 9-fold higher rate of ASD compared to the general population.
  • Short-term and long-term neurodevelopmental delays were strongly associated with ASD in CDH patients.
  • Several patient-related and clinical variables were identified as potential risk factors.

Conclusions:

  • There is a striking prevalence of ASD among CDH survivors.
  • Neurodevelopmental delays are key predictors of ASD in CDH.
  • Routine ASD screening is recommended for all children with CDH.

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