BACKGROUND: As clinicians strive to achieve consensus worldwide on how best to diagnose fetal alcohol spectrum disorders (FASD), the most recent FASD diagnosstic systems exhibit convergence and divergence. Applying these systems to a single clinical population illustrates contrasts between them, but validation studies are ultimately required to identify the best system. Currently, only the 4-Digit Code has published comprehensive validation studies. METHODS: The 4-Digit Code and Hoyme 2016 FASD systems were applied to the records of 1,392 patients evaluated for FASD at the University of Washington to: 1) Compare the diagnostic criteria and tools used by each system, 2) Compare the prevalence and concordance of diagnostic outcomes and assess measures of validity. RESULTS: Only 38% of patients received concordant diagnoses. The Hoyme criteria rendered half as many diagnoses under the umbrella of FASD (n=558) as the 4-Digit Code (n=1,092) and diagnosed a much higher proportion (53%) as fetal alcohol syndrome/partial fetal alcohol syndrome (FAS/PFAS) than the 4-Digit Code (7%). Key Hoyme factors contributing to discordance included relaxation of facial criteria (40% had the Hoyme FAS face, including patients with confirmed absence of alcohol exposure); setting alcohol exposure thresholds prevented 1/3 with confirmed exposure from receiving FAS/FASD diagnoses; and setting minimum age limits for Alcohol-Related Neurodevelopmental Disorder prevented 79% of alcohol-exposed infants with neurodevelopmental impairment a FASD diagnosis. The Hoyme Lip/Philtrum Guides differ substantively from the 4-Digit Lip-Philtrum Guides and thus are not valid for use with the 4-Digit Code. CONCLUSIONS: All FASD diagnostic systems need to publish comprehensive validation studies to identify which is the most accurate, reproducible, and medically valid.
BACKGROUND: As clinicians strive to achieve consensus worldwide on how best to diagnose fetal alcohol spectrum disorders (FASD), the most recent FASD diagnosstic systems exhibit convergence and divergence. Applying these systems to a single clinical population illustrates contrasts between them, but validation studies are ultimately required to identify the best system. Currently, only the 4-Digit Code has published comprehensive validation studies. METHODS: The 4-Digit Code and Hoyme 2016 FASD systems were applied to the records of 1,392 patients evaluated for FASD at the University of Washington to: 1) Compare the diagnostic criteria and tools used by each system, 2) Compare the prevalence and concordance of diagnostic outcomes and assess measures of validity. RESULTS: Only 38% of patients received concordant diagnoses. The Hoyme criteria rendered half as many diagnoses under the umbrella of FASD (n=558) as the 4-Digit Code (n=1,092) and diagnosed a much higher proportion (53%) as fetal alcohol syndrome/partial fetal alcohol syndrome (FAS/PFAS) than the 4-Digit Code (7%). Key Hoyme factors contributing to discordance included relaxation of facial criteria (40% had the Hoyme FAS face, including patients with confirmed absence of alcohol exposure); setting alcohol exposure thresholds prevented 1/3 with confirmed exposure from receiving FAS/FASD diagnoses; and setting minimum age limits for Alcohol-Related Neurodevelopmental Disorder prevented 79% of alcohol-exposed infants with neurodevelopmental impairment a FASD diagnosis. The Hoyme Lip/Philtrum Guides differ substantively from the 4-Digit Lip-Philtrum Guides and thus are not valid for use with the 4-Digit Code. CONCLUSIONS: All FASD diagnostic systems need to publish comprehensive validation studies to identify which is the most accurate, reproducible, and medically valid.
Authors: Jocelynn L Cook; Courtney R Green; Christine M Lilley; Sally M Anderson; Mary Ellen Baldwin; Albert E Chudley; Julianne L Conry; Nicole LeBlanc; Christine A Loock; Jan Lutke; Bernadene F Mallon; Audrey A McFarlane; Valerie K Temple; Ted Rosales Journal: CMAJ Date: 2015-12-14 Impact factor: 8.262
Authors: H Eugene Hoyme; Philip A May; Wendy O Kalberg; Piyadasa Kodituwakku; J Phillip Gossage; Phyllis M Trujillo; David G Buckley; Joseph H Miller; Alfredo S Aragon; Nathaniel Khaole; Denis L Viljoen; Kenneth Lyons Jones; Luther K Robinson Journal: Pediatrics Date: 2005-01 Impact factor: 7.124
Authors: H Eugene Hoyme; Wendy O Kalberg; Amy J Elliott; Jason Blankenship; David Buckley; Anna-Susan Marais; Melanie A Manning; Luther K Robinson; Margaret P Adam; Omar Abdul-Rahman; Tamison Jewett; Claire D Coles; Christina Chambers; Kenneth L Jones; Colleen M Adnams; Prachi E Shah; Edward P Riley; Michael E Charness; Kenneth R Warren; Philip A May Journal: Pediatrics Date: 2016-07-27 Impact factor: 7.124
Authors: Raoul C M Hennekam; Valerie Cormier-Daire; Judith G Hall; Károly Méhes; Michael Patton; Roger E Stevenson Journal: Am J Med Genet A Date: 2009-01 Impact factor: 2.802