Diagnostic Issues Affecting the Epidemiology of Fetal Alcohol Spectrum Disorders

Main Article Content

Mena Farag


FAS, FASD, Canadian, Hoyme, IoM, 4-Digit



Epidemiological measures of the prevalence of fetal alcohol spectrum disorders (FASD) vary greatly in the literature. Irrespective of the methodology, the criteria to define a 'case' are set by the researchers. Hence, estimates of the prevalence of FASD primarily depend on the diagnostic criteria currently avail able. The problem lies therein - the aforementioned criteria are ill - defined.

Materials & Methods

A critical analysis of the diagnostic criteria from the Institute of Medicine, Hoyme, 4 - Digit Diagnostic Code and Canadian guidelines was performed, with particular attention focused on the inconsistencies in specificities of the fetal alcohol syndrome (FAS) facial phenotype.


To date, the Canadian guidelines represent the only guidelines that have pushed for a uniform diagnostic capacity through harmonizing the IoM and 4 - Digit Diagnostic Code criteria. In the absence of a reliable biochemical marker of effect to confirm maternal drinking during pregnancy, the importance and dependence on diagnostic guidelines for FASD is understated. With the availability of four published guidelines for diagnoses across the spectrum of FASD, there is a need to reach a set standard globally. There are profound implications of relaxed and strict diagnostic approaches on FAS prevalence reporting in the literature.


This review exposes the clinical burden of diagnosing the range of FASD with disputing diagnostic criteria. Discrepancies in the criteria pose a danger to the validity of FASD diagnoses with respect to inaccurate estimates of incidence and prevalence . In turn, these discrepancies risk compromising the future healthcare of affected individuals with regards to intervention, counselling and treatment

Abstract 180 | PDF Downloads 93


1. Abel EL. Was the fetal alcohol syndrome recognized b y the Greeks and Romans? Alcohol and Alcoholism [serial online]1999;34(6):868 - 872. Available from: URL: http://alcalc.oxfordjournals.org/content/34/6/868 .full.pdf
2. Plato; England E.B. The Laws of Plato. The text, edited with Introduction, Notes, etc. Charleston, South Carolina: BiblioLife; 2009
3. Astley SJ. Diagnostic Guidelines for Fetal Alcohol Spectrum Disorders: The 4 - Digit Diagnostic Code [monograph online]. 3 rd edition. Seattle , Washington: University Publication Services; 2004. Available from: URL: http://depts.washington.edu/fasdpn/pdfs/guide20 04.pdf
4. British Medical Association Science and Education Depar tment and BMA Board of Science. Fetal alcohol spectrum disorders: A guide for healthcare professionals [monograph online]. London: British Medical Association; 2007. Available from: URL: http://www.bma.org.uk/images/FetalAlcoholSpe ctrumDisorders_tcm41 - 158035.pdf
5. Stratton K, Howe C, Battaglia F. Fetal Alcohol Syndrome: Diagnosis, Epidemiology, Prevention, and Treatment [monograph online]. Washington DC: Institute of Medicine, National Academy Press; 1996. Available from: URL: http://www.nap.edu/catalog.php?record_id=499 1#toc
6. May PA, Gossage JP. Estimating the prevalence of fetal alcohol syndrome: A s ummary. Alcohol Research & Health [serial online]2001;25(3): 159 - 167. Available from: URL: http://pubs.niaaa.nih.gov/publications/arh25 - 3/159 - 167.htm
7. May PA, Gossage JP, Kalberg W O, Robinson LK, Buckley D, Manning M, Hoyme HE. Prevalence and epidemiologic characteristics of FASD from various research methods with an emphasis on recent in - school studies. Developmetnal Disabilities Research Reviews [serial online]2009;15(3):176 - 192. Available from: URL: http://onlinelibrary.wiley.com/doi/10.1002/ddrr. 68/pdf
8. Hoyme HE, May PA, Kalberg WO, Kodituwakku P, Gossage JP, Trujillo PM et al . A practical clinical approach t o diagnosis of fetal alcohol spectrum disorders : clarification of the 1996 institute of medicine criteria . Pediatrics [serial online] 2005 ; 115 (1): 39 - 47. Available from: URL: http://p ediatrics.aappublications.org/cgi/reprint/1 15/1/39
9. Chudley AE, Conry J, Cook JL, Loock C, Rosales T, LeBlanc N. Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis. Canadian Medical Association Journal [serial online]2005;172(5 Suppl):S1 - S 21. Available from: URL: http://www.cmaj.ca/content/172/5_suppl/S1.full
10. Astley SJ. Comparison of the 4 - Digit Diagnostic Code and the Hoyme Diagnostic Guidelines for Fetal Alcohol Spectrum Diso rders. Pediatrics [serial online]2006;118(4):1532 - 1545. Available from: URL: http://pediatrics.aappublications.org/cgi/reprint/1 18/4/1532
11. Welch - Carre E. The neurodevelopmental c onsequences of prenatal alcohol exposure. Advances in Neonatal Care [serial online]2005; 5(4):217 - 229. Available from: URL: http://www.ncbi.nlm.nih.gov/pubmed/16084479
12. Dunty, WC, Chen S, Zucker RM, Dehart DB, Sulik KK. Selective vulnerability of embryonic cell populations to ethanol - induced apoptosis: implications for alcohol - related birth defects and neurodevelopmental disorder . Alcoholism: Clinical and Experimental Research [serial online]2001; 25(10):1523 - 1535. Available from: URL: http://onlinelibrary.wiley.com/doi/10.1111/j.153 0 - 0277.2001.tb02156.x/pdf
13. American Academy of Pediatrics. Fetal alcohol syndr ome and alcohol - related neurodevelopmental disord ers. Pediatrics [serial online] 2000;106:358 - 361. Available from: URL: http://aappolicy.aappublications.org/cgi/reprin t/p ediatrics;106/2/358.pdf
14. Beaglehole R , Bonita R , Kjellström T. Basic Epidemiology [monograph online]. 2 nd edition. Geneva: World Health Organization; 2006. Available from: URL: http://whqlibdoc.who.int/publications/2006/9241 547073_eng.pdf
15. Mutch R, Peadon EM, Elliott EJ, Bower C. Need to establish a nat ional diagnostic capacity for f etal alcohol spectrum. Journal of Paediatrics and Child Health [serial online]2009;45(3):79 - 81 . Available from: URL: http://onlinelibrary.wiley.com/doi/10.1111/j.144 0 - 1754.2009.01464.x/pdf