Anna Ramos-Triguero ¹ Melina Vieiros ² Elisabet Navarro Tapia ^2,3 Afruz Mirahi ¹ Marta Astals Vizcaino ¹ Leopoldo Martinez ^2,4 Oscar Garcia-Algar ^5,6 Vicente Andreu Fernández ^3*

• ¹ August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Catalonia, Spain
• ² University Hospital La Paz Research Institute (IdiPAZ), Madrid, Madrid, Spain
• ³ Valencian International University, Castelló de la Plana, Valencia, Spain
• ⁴ University Hospital La Paz, La Paz, Madrid, Spain
• ⁵ Hospital Clinic of Barcelona, Barcelona, Catalonia, Spain
• ⁶ University of Barcelona, Barcelona, Catalonia, Spain

Foetal alcohol spectrum disorders include a variety of physical and neurocognitive disorders caused by prenatal alcohol exposure. Although their overall prevalence is around 0,77%, FASD remains underdiagnosed and little known, partly due to the complexity of their diagnosis, which shares some symptoms with other pathologies such as autism spectrum, depression or hyperactivity disorders. This study explores the application of Machine Learning algorithms (ML) in diagnosing FASD and its subtypes: Foetal Alcohol Syndrome (FAS), partial FAS (pFAS), and Alcohol-Related Neurodevelopmental Disorder (ARND). Machine learning algorithms construct a profile for FASD based on socio-demographic, clinical, and psychological data from children with FASD compared to a control group. Random Forest (RF) model was the most efficient for predicting FASD, achieving the highest metrics in accuracy (0.92), precision (0.96), sensitivity (0.92), F1 Score (0.94), specificity (0.92), and AUC (0.92). For FAS, XGBoost model obtained the highest accuracy (0.94), precision (0.91), sensitivity (0.91), F1 Score (0.91), specificity (0.96), and AUC (0.93). In the case of pFAS, RF model showed its effectiveness, with high levels of accuracy (0.90), precision (0.86), sensitivity (0.96), F1 Score (0.91), specificity (0.83), and AUC (0.90). For ARND, RF model obtained the best levels of accuracy (0.87), precision (0.76), sensitivity (0.93), F1 Score (0.84), specificity (0.83), and AUC (0.88). Our study identified key variables for efficient FASD screening, including traditional clinical characteristics like maternal alcohol consumption, lip-philtrum, microcephaly, height and weight impairment, as well as neuropsychological variables such as the Working Memory Index (WMI), aggressive behaviour, IQ, somatic complaints, and depressive problems. Our findings emphasize the importance of ML analyses for early diagnoses of FASD, allowing a better understanding of FASD subtypes to potentially improve clinical practice and avoid misdiagnosis.