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The FASD Eye Code: a complementary diagnostic tool in fetal alcohol spectrum disorders
Department of Clinical Neuroscience, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden; Deparment of Ophthalmology, Region Västra Götaland, Sahlgrenska University Hospital, Mölndal, Sweden.
Department of Clinical Neuroscience, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
Department of Paediatrics, Unit of Neurodevelopmental Disorders, Region Västra Götaland, Skaraborg Hospital, Mariestad, Sweden; Gillberg Neuropsychiatry Centre, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.
Department of Paediatrics, Unit of Neurodevelopmental Disorders, Region Västra Götaland, Skaraborg Hospital, Mariestad, Sweden.
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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

Available from: 2021-11-15 Created: 2021-11-15 Last updated: 2024-01-02Bibliographically approved

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Andersson Grönlund, Marita

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