The FASD Eye Code: a complementary diagnostic tool in fetal alcohol spectrum disordersShow others and affiliations
2021 (English)In: BMJ Open Ophthalmology, E-ISSN 2397-3269, Vol. 6, no 1, article id e000852Article in journal (Refereed) Published
Abstract [en]
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.
Place, publisher, year, edition, pages
BMJ Publishing Group Ltd, 2021. Vol. 6, no 1, article id e000852
Keywords [en]
Child health (paediatrics), diagnostic tests/investigation, optic nerve, optics and refraction, public health, retina, vision
National Category
Pediatrics
Identifiers
URN: urn:nbn:se:oru:diva-95424DOI: 10.1136/bmjophth-2021-000852ISI: 000711055600002PubMedID: 34765742Scopus ID: 2-s2.0-85118427567OAI: oai:DiVA.org:oru-95424DiVA, id: diva2:1611410
Funder
Wilhelm och Martina Lundgrens VetenskapsfondSwedish Research CouncilRegion Västra Götaland
Note
Funding Agencies:
Gothenburg Medical Society
Swedish government
2021-11-152021-11-152024-01-02Bibliographically approved