The FASD Eye Code: a complementary diagnostic tool in fetal alcohol spectrum disorders

Area of Science:

• Ophthalmology
• Pediatrics
• Genetics

Background:

• Fetal alcohol spectrum disorder (FASD) presents with a range of neurodevelopmental challenges, often requiring multidisciplinary diagnostic approaches.
• Ophthalmological abnormalities are frequently observed in individuals with FASD, suggesting their potential utility in diagnosis.

Purpose of the Study:

• To develop and validate an easy-to-use ophthalmological tool, the FASD Eye Code, to aid in the diagnosis of fetal alcohol spectrum disorder (FASD).

Main Methods:

• The FASD Eye Code was developed using data from 37 children with FASD and 65 controls.
• Four key ophthalmological categories (visual acuity, refraction, strabismus/binocular function, ocular structure) were scored on a 4-point scale.
• The tool was validated in cohorts of children with attention deficit/hyperactivity disorder (ADHD), moderate-to-late prematurity (MLP), and Silver-Russell syndrome (SRS).

Main Results:

• The FASD Eye Code demonstrated strong discriminatory power, with a cut-off score of ≥10 yielding an area under the curve (AUC) of 0.78 for distinguishing FASD from controls, MLP, and ADHD.
• A cut-off score of ≥9 showed 98% specificity and 57% sensitivity for FASD versus controls (AUC 0.87).
• Ophthalmological scores in individuals with FASD remained stable when re-examined as young adults.

Conclusions:

• The FASD Eye Code shows significant potential as a complementary diagnostic tool for fetal alcohol spectrum disorder.
• Its high specificity supports its utility in strengthening FASD diagnoses.
• The tool's stability into adulthood suggests long-term applicability.