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The essential role of growth deficiency in the diagnosis of fetal alcohol spectrum disorder

Susan J. Astley, Julia M. Bledsoe, Julian K. Davies

Background: Laboratory studies confirm prenatal alcohol exposure (PAE) causes growth deficiency (GD). GD has traditionally been a core diagnostic feature of fetal alcohol spectrum disorders (FASD), but was removed from the Canadian and Australian FASD diagnostic guidelines in 2016. This study aimed to empirically assess the clinical role and value of GD in FASD diagnosis. Methods: Data from 1814 patients with FASD from the University of Washington Fetal Alcohol Syndrome Diagnostic & Prevention dataset were analyzed to answer the following questions: 1) Is there evidence of a causal association between PAE and GD in our clinical population? 2) Is GD sufficiently prevalent among individuals with PAE to warrant its inclusion as a diagnostic criterion? 3) Does GD aid the diagnostic team in identifying and/or predicting which individuals will be most impaired by their PAE? Results: GD significantly correlated with PAE. GD was as prevalent as the other core diagnostic features (facial and CNS abnormalities). GD occurred in all FASD diagnoses and increased in prevalence with increasing severity of diagnosis. The most prevalent form of GD was postnatal short stature. GD was as highly correlated with, and predictive of, severe brain dysfunction as the FAS facial phenotype. Individuals with GD had a two to three-fold increased risk for severe brain dysfunction. Sixty percent of patients with severe GD had severe brain dysfunction. GD accurately predicted which infants presented with severe brain dysfunction later in childhood Conclusions: GD is an essential diagnostic criterion for FASD and will remain in the FASD 4-Digit Code.