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Fetal alcohol spectrum disorders (FASD), fetal alcohol syndrome (FAS), diagnosis, validity, 4-Digit Diagnostic Code, FAS Diagnostic & Prevention Network (FASDPN)
The fetal alcohol spectrum disorder (FASD) 4-Digit Diagnostic Code has been used by interdisciplinary diagnostic teams worldwide for 17 years. It was created to improve the ease, accuracy, and reproducibility of diagnoses across the full spectrum of FASD. Over the years, a number of FAS/D diagnostic guidelines have been proposed. As the field of FASD moves forward, it will be important to adopt a single set of diagnostic guidelines worldwide. To achieve this, the performance (validity) of current diagnostic guidelines must be rigorously assessed and reported.
To summarize the body of evidence that has amassed over 20 years that validates the performance of the FASD 4-Digit Diagnostic Code.
The evidence validating the 4-Digit Code is documented across 35 studies published between 1992 and 2012, including new information presented in this report. These studies and data sources include the delineation of the FAS facial phenotype; creation of the 4-Digit Code (1997-2004); our 10-year, fostercare FAS screening program; our MRI/fMRI/MRS studies; analysis of 2,550 individuals evaluated for FASD over 20 years in the WA State FASDPN clinics, and analysis of 622 patient satisfaction/follow-up surveys; surveys of 10,000 professionals attending the University of Washington FASD diagnostic clinic trainings; and surveys of over 700 professionals worldwide who completed the 4-Digit Code Online Course.
The 4-Digit Code is a simple, comprehensive, evidence-based, validated diagnostic system. It has served as the cornerstone of a fully integrated FASD screening, diagnostic, intervention, prevention, and surveillance program in Washington State for the past 20 years .
2. Astley S, Clarren S. Diagnostic Guide for Fetal Alcohol Syndrome and Related Conditions: the 4-Digit Diagnostic Code. 2nd ed. Seattle: University of Washington Publication Services; 1999.
3. Astley SJ. Diagnostic Guide for Fetal Alcohol Spectrum Disorders: The 4-Digit Diagnostic Code. 3rd ed. Seattle: University of Washington Publication Services; 2004.
4. Astley SJ, Clarren SK. Diagnosing the full spectrum of fetal alcohol exposed individuals: Introducing the 4-Digit Diagnostic Code. Alcohol Alcohol. 2000;35:400-410.
5. Stratton K, Howe C, Battaglia F. Fetal Alcohol Syndrome: Diagnosis Epidemiology Prevention and Treatment. Institute of Medicine. Washington D C National Academy Press; 1996.
6. Bertrand J, Floyd RL, Weber MK, et al. National Task Force on FAS/FAE Fetal Alcohol Syndrome: Guidelines for Referral and Diagnosis: . Atlanta GA: Centers for Disease Control and Prevention 2004.
7. Chudley AE, Conry J, Cook JL, Loock C, Rosales T, LeBlanc N. Public Health Agency of Canada’s National Advisory Committee on Fetal Alcohol Spectrum Disorder Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis. Can. Med. Assoc. J. 2005;172:S1-S21.
8. Hoyme HE, May PA, Kalberg WO, et al. A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: clarification of the 1996 Institute of Medicine criteria. Pediatrics. 2005;115:39-47.
9. Astley S. Diagnosing Fetal Alcohol Spectrum Disorders (FASD). In: Adubato S CD, ed. Diagnosis, Assessment and New Directions in Research and Multimodal Treatment: Bentham Science Publishers Ltd; 2011:3-29.
10. Jones K, Smith D, Ulleland C, Streissguth A. Pattern of malformation in offspring of chronic alcoholic mothers. Lancet. 1973;1:1267-1271.
11. Rosett H. A clinical perspective of the fetal alcohol syndrome. Alcohol. Clin. Exp. Res. 1980;4(2):119-122.
12. Clarren S, Smith D. The fetal alcohol syndrome. N. Engl. J. Med. 1978;298(19):1063-1067.
13. Sokol R, Clarren S. Guidelines for use of terminology describing the impact of prenatal alcohol on the offspring. Alcohol. Clin. Exp. Res. 1989;13:597-598.
14. Abel E, Sokol R. Incidence of fetal alcohol syndrome and economic impact of FAS-related anomalies. Drug Alcohol Depend. 1987;19(1):51-70.
15. Astley S, Stachowiak J, Clarren S, Clausen C. Application of the fetal alcohol syndrome facial photographic screening tool in a foster care population. J. Pediatr. 2002;141(5):712-717.
16. Astley SJ, Aylward EH, Olson HC, et al. Magnetic resonance imaging outcomes from a comprehensive magnetic resonance study of children with fetal alcohol spectrum disorders. Alcohol. Clin. Exp. Res. 2009;33(10):1-19.
17. Astley SJ, Olson HC, Kerns K, et al. Neuropsychological and behavioral outcomes from a comprehensive magnetic resonance study of children with fetal alcohol spectrum disorders. Canadian Journal of Clinical Pharmacology. 2009;16(1):e178-e201.
18. Mattson SN, Schoenfeld AM, Riley EP. Teratogenic effects of alcohol on brain and behavior. Alcohol Research & Health. 2001;25:185-191.
19. Kodituwakku PW. Defining the behavioral phenotype in children with fetal alcohol spectrum disorders: a review. Neurosci. Biobehav. Rev. 2007;31(2):192-201.
20. Clarren S, Olson H, Clarren S, Astley S. A child with fetal alcohol syndrome. Baltimore: Paul H. Brookes Publishing Co; 2000.
21. Aase JM, Jones KL, Clarren SK. Do we need the term “FAE”? Pediatrics. 1995;95:428-430.
22. Chavez G, Cordero J, Becerra J. Leading major congenital malformations among minority groups in the United States, 1981-1986. Morbidity and Mortality Weekly Report. 1998;37:17-24.
23. Astley S. Comparison of the 4-Digit Diagnostic Code and the Hoyme diagnostic guidelines for fetal alcohol spectrum disorders. Pediatr. Rev. 2006;118(4):1532-1545.
24. Astley S. Fetal alcohol syndrome prevention in Washingon State: Evidence of success. Paediatr. Perinat. Epidemiol. 2004;18:344-351.
25. Astley SJ, Clarren SK. Measuring the facial phenotype of individuals with prenatal alcohol exposure: correlations with brain dysfunction. Alcohol Alcohol. 2001; 36:147-159.
26. Astley S. Profile of the first 1,400 patients receiving diagnostic evaluations for fetal alcohol spectrum disorder at the Washington State Fetal Alcohol Syndrome Diagnostic & Prevention Network. Canadian Journal of Clinical Pharmacology. 2010;17(1):e132-e164.
27. Astley SJ, Aylward EH, Olson HC, et al. Functional magnetic resonance imaging outcomes from a comprehensive magnetic resonance study of children with fetal alcohol spectrum disorders. Journal of Neurodevelopmental Disorders. 2009;1(1):61-80.
28. Astley S, Clarren S. A fetal alcohol syndrome screening tool. Alcohol. Clin. Exp. Res. 1995;19(6):1565-1571.
29. Astley S, Magnuson S, Omnell L, Clarren S. Fetal alcohol syndrome: Changes in craniofacial form with age, cognition, and timing of ethanol exposure in the Macaque. Teratology. 1999;59:163-172.
30. Astley SJ, Clarren SK. A case definition and photographic screening tool for the facial phenotype of fetal alcohol syndrome. J. Pediatr. 1996;129:33-41.
31. Litwin M. How to measure survey reliability and validity. Thousand Oaks: Sage Publications; 1995.
32. Astley S. Canadian palpebral fissure length growth charts reflect a good fit for two school and FASD clinic-based U.S. populations. Journal of Population Therapeutics and Clinical Pharmacology. 2011;18(2):e231-e241.
33. FAS Facial Photographic Analysis Software [computer program]. Version 2.0. Seattle: University of Washington; 2012.
34. Lipscomb L, Johnson C, Morrow B, Gilbert B, Ahluwalia I, Beck L. PRAMS Surveillance Report 1998. In: Health DoR, ed. Atlanta: CDC; 20000.
35. Astley SJ, Richards T, Aylward EH, et al. Magnetic resonance spectroscopy outcomes from a comprehensive magnetic resonance study of children with fetal alcohol spectrum disorders. Magn. Reson. Imaging. 2009;27:760-778.
36. Clarren S, Astley S. Development of the FAS Diagnostic and Prevention Network in Washington State. Seattle: University of Washington Press; 1997.
37. Astley S, Bailey D, Talbot T, Clarren S. Fetal alcohol syndrome (FAS) primary prevention through FAS diagnosis: II. A comprehensive profile of 80 birth mothers of children with FAS. Alcohol Alcohol. 2000;35(5):509-519.
38. Astley S, Bailey D, Talbot T, Clarren S. Fetal alcohol syndrome (FAS) primary prevention through FAS diagnosis: I. Identification of highrisk birth mothers through the diagnosis of their children. Alcohol Alcohol. 2000;35(5):499-508.
39. Astley SJ, Weinberger E, Shaw D, Richards T, Clarren SK. Magnetic resonance imaging and spectroscopy in fetal ethanol exposed Macaca nemestrina. Neurotoxicol. Teratol. 1995;17:523-530.
40. FAS Facial Photographic Analysis Software [computer program]. Version 1.0. Seattle: University of Washngton; 2004.
41. Astley S. FASD 4-Digit Code Online Course. University of Washington; 2004.
42. Astley S, Clarren S, Little R, Sampson PD, Daling J. Analysis of facial shape in children gestationally exposed to marijuana, alcohol, and/or cocaine. Pediatrics. 1992; 89:67-77.
43. Majewski F. Alcohol embryopathy: Experience in 200 patients. Development Brain Dysfunction. 1993;6:248-265.
44. Streissguth AP, Aase JM, Clarren SK, Randels SP, LaDue RA, Smith DF. Fetal alcohol syndrome in adolescents and adults. Journal of the American Medical Association. 1991;265:1961-1967.
45. Spohr H, Steinhausen H. Follow-up studies of children with fetal alcohol syndrome. Neuropediatrics. 1987;18:13-17.
46. Enlow D, Hans M. Facial form and pattern. Philadelphia: WB Saunders Co; 1996.
47. Smith DW. The fetal alcohol syndrome Hosp. Pract. 1979;14(10):121-128.
48. Feldman H, Jones KL, Lindsay S, et al. Prenatal alcohol exposure patterns and alcohol-related birth defects and growth deficiencies: a prospective study. Alcohol. Clin. Exp. Res. 2012:1-7.
49. Marcucio R, Cordero D, Hu D, Helms J. Molecular interactions coordinating the development of the forebrain and face. Dev. Biol. 2005;284:48-61.
50. DeMeyer W. Median facial malformations and their implications for brain malformations. Birth Defects Orig. Artic. Ser. 1975;75:155-181.
51. Johnston MC. The neural crest in abnormalities of the face and brain. In: Bergsma D, ed. Morphogenesis and Malformation of Face and Brain. Vol 111975:1-18.
52. Sulik KK, Johnston MC. Embryonic origin of holoprosencephaly: interrelationship of the developing brain and face. Scan. Electron Microsc. 1982;1:309-322.
53. Sulik KK. Critical periods for alcohol teratogenesis in mice with special reference to the gastrulation stage of embyrogenesis. Mechanisms of Alcohol Damage in Utero. Vol 105. London Pitman Ciba Foundation Symposium; 1984:124-141.
54. Sulik KK, Johnston MC. Sequence of developmental alterations following acute ethanol exposure in mice Craniofacial features of the fetal alcohol syndrome. Am. J. Anat. 1983;166:257-269.
55. Siebert J, Astley S, Clarren S. Holoprosensephaly in a fetal macaque (Macaca nemestrina) following weekly exposure to ethanol. Teratology. 1991;44:29036.
56. Moore KL, Persaud TVN, Shiota K. Color Atlas of Clinical Embryology Philidelphia PA W B Saunders Co 1994.
57. Sowell ER, Thompson PM, Mattson SN, et al. Voxel-based morphometric analyses of the brain in children and adolescents prenatally exposed to alcohol. Neuroreport. 2001;12:515-523.
58. Archibald SL, Fennema-Notestine C, Ganst A, Riley EP, Mattson SN, Jernigan TL. Brain dysmorphology in individuals with severe prenatal alcohol exposure. Dev. Med. Child Neurol. 2001;43:148-154.
59. Sowell ER, Mattson SN, Thompson PM, Jernigan TL, Riley EP, Toga AW. Mapping callosal morphology and cognitive correlates: Effects of heavy prenatal alcohol exposure. Neurology. 2001;57:235-244.
60. Sowell E, Thompson P, Mattson S, et al. Regional brain shape abnormalities persist into adolescence after heavy prenatal alcohol exposure. Cereb. Cortex. 2002; 12:856-865.
61. Chasnoff I, Wells A, Telford E, Schmidt C, Messer G. Neurodevelopmental functioning in children with FAS, pFAS, and ARND. J. Dev. Behav. Pediatr. 2010; 31:192-201.
62. Clarren S, Chudley A, Wong L, Friesen J, Brant R. Normal distribution of palpebral fissure lengths in Canadian school age children. Canadian Journal of Clinical Pharmacology. 2010;17(1):e67-e78.
63. Bertrand J. Interventions for children with fetal alcohol spectrum disorders (FASDs): Overview of findings for five innovative research projects Res. Dev. Disabil. 2009.
64. Astley S, Grant T. Another perspective on "The effect of different alcohol drinking patterns in early to mid pregnancy on the child's intelligence, attention, and executive function". Br. J. Obstet. Gynaecol. 2012:1672.
65. Clarren S, Astley S, Bowden D. Physical anomalies and developmental delays in nonhuman primate infants exposed to weekly doses of ethanol during gestation. Teratology. 1988;37:561-569.
66. Clarren S, Astley S, Gunderson V, Spellmen D. Cognitive and behavioral deficits in nonhuman primates associated with very early embryonic binge exposures to ethanol. Journal of Peciatrics. 1992;121(5):789-796.
67. Jirikowic T, Gelo J, Astley S. Children and youth with fetal alcohol spectrum disorders: Summary of intervention recommendations after clinical diagnosis. Intellectual and Developmental Disabilities. 2010;48(5):330-344.
68. Olson HC, Jirikowic T, Kartin D, Astley SJ. Responding to the challenge of early intervention for fetal alcohol spectrum disorders. Infants and Young Children. 2007;20:172-189.
69. Association AP. Diagnostic and Statistical Manual of Mental Disorders DSM-5. 5th ed: American Psychiatric Publishing, Inc; 2013.
70. Watkins R, Elliott E, Wilkins A, et al. Recommendations from a consensus development workshop on the diagnosis of fetal alcohol spectrum disorders in Australia. BMC Pediatrics. 2013;13(156):1-10.
71. NIAAA. Seventh Special Report to the U.S. Congress on Alcohol and Health. Washington DC: U.S. DHHS; 1990.
72. Sood B, Delaney-Black V, Covington C, al e. Prenatal alcohol exposure and childhood behavior at 6 to 7 years: 1. dose-response effect. Pediatr. Rev. 2001;108(2).
73. Klein de Licona H, Karacay B, Mahoney J, McDonald E, Luang T, Bonthius D. A single exposure to alcohol during brain development induces microencephaly and neuronal losses in genetically susceptible mice, but not in wild type mice. Neurotoxicology. 2009;30:459-470.
74. Chasnoff I. Fetal alcohol syndrome in twin pregnancy. Acta Genetica Med Gemellol (Roma). 1985;34(3-4):229-232.
75. Streissguth A, Dehaene P. Fetal alcohol syndrome in twins of alcoholic mothers: concordance of diagnosis and IQ. Am. J. Med. Genet. 1993;47(6):857-861.
76. Stromland K, Chen Y, Norberg T, Wennerstrom K, Michael G. Reference values of facial features in scandinavian children measured with a range-camera technique. Scand. J. Plast. Reconstr. Surg. Hand Surg. 1999;33:59-65.