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The FASD Eye Code: a complementary diagnostic tool in fetal alcohol spectrum disorders
Eva Aring1,2, Emelie Gyllencreutz3, Valdemar Landgren4,5
1Department of Clinical Neuroscience, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden eva.aring@gu.se.
Insights
The FASD Eye Code is a new ophthalmological tool that helps diagnose fetal alcohol spectrum disorder (FASD). This tool shows high specificity in distinguishing FASD from other conditions and remains stable into adulthood.
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.
Objective:
To create an easy-to-use complementary ophthalmological tool to support a fetal alcohol spectrum disorder (FASD) diagnosis.
Methods And Analysis:
The FASD Eye Code was derived from 37 children with FASD evaluated along with 65 healthy age-matched and sex-matched controls. Four ophthalmological categories, which are abnormalities commonly found in children with FASD, were ranked independently on a 4-point scale, with 1 reflecting normal finding and 4 a strong presence of an abnormality: visual acuity, refraction, strabismus/binocular function and ocular structural abnormalities. The tool was validated on 33 children with attention deficit/hyperactivity disorder (ADHD), 57 children born moderate-to-late premature (MLP) and 16 children with Silver-Russell syndrome (SRS). Among children with ADHD none was born prematurely or small for gestational age (SGA) or diagnosed with FASD. Among children born MLP none was SGA, had a diagnosis of ADHD or FASD, or a history of retinopathy of prematurity. Children with SRS were all born SGA, half were born preterm and none had FASD. Children with FASD were re-examined as young adults.
Results:
An FASD Eye Code cut-off total score of ≥10 showed an area under the curve (AUC) of 0.78 (95% CI 0.69 to 0.87), with 94% specificity and 43% sensitivity, in discriminating between FASD and controls, MLP and ADHD, corresponding to a positive likelihood ratio (LR+) of 7.5. Between FASD and controls, an AUC of 0.87 (CI 0.80 to 0.95), with 100% specificity and 43% sensitivity, was found; between FASD and SRS, an AUC of 0.60 (CI 0.45 to 0.75) was found, with 88% specificity and 43% sensitivity. A cut-off score of≥9 showed a specificity of 98% and a sensitivity of 57% for FASD versus controls, corresponding to an LR+ of 36.9. Scores in individuals with FASD were stable into young adulthood.
Conclusion:
The FASD Eye Code has the potential to serve as a complementary tool and help to strengthen an FASD diagnosis.
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