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The Diagnostic Process

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Fetal Alcohol Spectrum Disorders

Abstract

The diagnosis of a fetal alcohol spectrum disorder (FASD) requires collecting data on various aspects of an individual including growth, physical features, neurobehavioral function, and prenatal alcohol exposure. The pattern of findings within these areas defines the final diagnostic category that can be applied to an individual. This chapter will review the various elements required in the diagnosis of an FASD, how to assess an individual for their presence, and the process for integrating the information into a final diagnosis. This chapter will also discuss the ideal method for providing a diagnosis to families, challenges to making a diagnosis, issues surrounding stigma associated with a diagnosis of FASD. Finally, several initiatives are underway to integrate technology in improving access to diagnostics and interventions, which will be reviewed.

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References

  1. Hoyme HE, Kalberg WO, Elliott AJ, Blankenship J, Buckley D, Marais AS, et al. Updated clinical guidelines for diagnosing fetal alcohol spectrum disorders. Pediatrics. 2016;138(2):e20154256.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Coles CD, Gailey AR, Mulle JG, Kable JA, Lynch ME, Jones KL. A comparison among 5 methods for the clinical diagnosis of fetal alcohol spectrum disorders. Alcohol Clin Exp Res. 2016;40(5):1000–9.

    Article  PubMed  PubMed Central  Google Scholar 

  3. Jones KL, Hoyme HE, Robinson LK, del Campo M, Manning MA, Bakhireva LN, et al. Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndrome. Birt Defects Res A Clin Mol Teratol. 2009;85(8):695–9.

    Article  CAS  Google Scholar 

  4. Astley SJ, Clarren SK. Diagnosing the full spectrum of fetal alcohol-exposed individuals: introducing the 4-digit diagnostic code. Alcohol Alcohol. 2000;35(4):400–10.

    Article  CAS  PubMed  Google Scholar 

  5. Valentine M, Bihm DCJ, Wolf L, Hoyme HE, May PA, Buckley D, et al. Computer-aided recognition of facial attributes for fetal alcohol spectrum disorders. Pediatrics. 2017;140(6):e20162028.

    Article  PubMed  Google Scholar 

  6. Suttie M, Wozniak JR, Parnell SE, Wetherill L, Mattson SN, Sowell ER, et al. Combined face–brain morphology and associated neurocognitive correlates in fetal alcohol spectrum disorders. Alcohol Clin Exp Res. 2018;42(9):1769–82.

    Article  PubMed  PubMed Central  Google Scholar 

  7. Jones KL, Smith DW. The fetal alcohol syndrome. Teratology. 1975;12(1):1–10.

    Article  CAS  PubMed  Google Scholar 

  8. Skagerström J, Alehagen S, Häggström-Nordin E, Årestedt K, Nilsen P. Prevalence of alcohol use before and during pregnancy and predictors of drinking during pregnancy: a cross sectional study in Sweden. BMC Public Health. 2013;13(1):780.

    Article  PubMed  PubMed Central  Google Scholar 

  9. Saunders JB, Aasland OG, Babor TF, de la Fuente JR, Grant M. Development of the Alcohol Use Disorders Identification Test (AUDIT): WHO Collaborative Project on early detection of persons with harmful alcohol consumption—II. Addiction (Abingdon, England). 1993;88(6):791–804.

    Article  CAS  PubMed  Google Scholar 

  10. Branum AM, Ahrens KA. Trends in timing of pregnancy awareness among US women. Matern Child Health J. 2017;21(4):715–26.

    Article  PubMed  PubMed Central  Google Scholar 

  11. Astley SJ, Clarren SK. A fetal alcohol syndrome screening tool. Alcohol Clin Exp Res. 1995;19(6):1565–71.

    Article  CAS  PubMed  Google Scholar 

  12. Jiang R, Bush JO, Lidral AC. Development of the upper lip: morphogenetic and molecular mechanisms. Dev Dyn. 2006;235(5):1152–66.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Jacobson SW, Hoyme HE, Carter RC, Dodge NC, Molteno CD, Meintjes EM, et al. Evolution of the physical phenotype of fetal alcohol spectrum disorders from childhood through adolescence. Alcohol Clin Exp Res. 2021;45(2):395–408.

    Article  PubMed  Google Scholar 

  14. Jones KL, Smith DW. Recognition of the fetal alcohol syndrome in early infancy. Lancet (London, England). 1973;302(7836):999–1001.

    Article  CAS  PubMed  Google Scholar 

  15. Carter RC, Chen J, Li Q, Deyssenroth M, Dodge NC, Wainwright HC, et al. Alcohol-related alterations in placental imprinted gene expression in humans mediate effects of prenatal alcohol exposure on postnatal growth. Alcohol Clin Exp Res. 2018;42:1431.

    Article  CAS  Google Scholar 

  16. O’Leary CM, Nassar N, Kurinczuk JJ, Bower C. The effect of maternal alcohol consumption on fetal growth and preterm birth. BJOG Int J Obstet Gynaecol. 2009;116(3):390–400.

    Article  Google Scholar 

  17. Carter RC, Jacobson JL, Molteno CD, Dodge NC, Meintjes EM, Jacobson SW. Fetal alcohol growth restriction and cognitive impairment. Pediatrics. 2016;138(2):e20160775.

    Article  PubMed  PubMed Central  Google Scholar 

  18. Villar J, Giuliani F, Barros F, Roggero P, Coronado Zarco IA, Rego MAS, et al. Monitoring the postnatal growth of preterm infants: a paradigm change. Pediatrics. 2018;141(2):e20172467.

    Article  PubMed  Google Scholar 

  19. Sullivan WC. A note on the influence of maternal inebriety on the offspring. 1899. Int J Epidemiol. 2011;40(2):278–82.

    Article  CAS  PubMed  Google Scholar 

  20. Hoyme HE, May PA, Kalberg WO, Kodituwakku P, Gossage JP, Trujillo PM, et al. A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: clarification of the 1996 institute of medicine criteria. Pediatrics. 2005;115(1):39–47.

    Article  PubMed  Google Scholar 

  21. Ledford CJW, Seehusen DA, Cafferty LA, Rider HA, Rogers T, Fulleborn S, et al. Diabetes ROADMAP: teaching guideline use, communication, and documentation when delivering the diagnosis of diabetes. MedEdPORTAL. 2020;16:10959.

    Article  PubMed  PubMed Central  Google Scholar 

  22. Edwards WF, Malik S, Peters J, Chippendale I, Ravits J. Delivering bad news in amyotrophic lateral sclerosis: proposal of specific technique ALS ALLOW. Neurol Clin Pract. 2021;11(6):521–6.

    PubMed  PubMed Central  Google Scholar 

  23. Baile WF, Buckman R, Lenzi R, Glober G, Beale EA, Kudelka AP. SPIKES—a six-step protocol for delivering bad news: application to the patient with cancer. Oncologist. 2000;5(4):302–11.

    Article  CAS  PubMed  Google Scholar 

  24. Floyd RL, Jack BW, Cefalo R, Atrash H, Mahoney J, Herron A, et al. The clinical content of preconception care: alcohol, tobacco, and illicit drug exposures. Am J Obstet Gynecol. 2008;199(6 Suppl B):S333–9.

    Article  PubMed  Google Scholar 

  25. Long M, Frederiksen B, Ranji U. Women’s health care utilization and costs: findings from the 2020 KFF Women’s Health Survey. KFF; 2021 [cited 2022 Jul 11]. Available from: https://www.kff.org/womens-health-policy/issue-brief/womens-health-care-utilization-and-costs-findings-from-the-2020-kff-womens-health-survey/.

  26. Chiodo LM, Cosmian C, Pereira K, Kent N, Sokol RJ, Hannigan JH. Prenatal alcohol screening during pregnancy by midwives and nurses. Alcohol Clin Exp Res. 2019;43(8):1747–58.

    Article  PubMed  PubMed Central  Google Scholar 

  27. Astley SJ. 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. Can J Clin Pharmacol. 2010;17(1):e132–64.

    PubMed  Google Scholar 

  28. Bakhireva LN, Garrison L, Shrestha S, Sharkis J, Miranda R, Rogers K. Challenges of diagnosing fetal alcohol spectrum disorders in foster and adopted children. Alcohol. 2018;67:37–43.

    Article  PubMed  Google Scholar 

  29. Lange S, Shield K, Rehm J, Popova S. Prevalence of fetal alcohol spectrum disorders in child care settings: a meta-analysis. Pediatrics. 2013;132(4):e980–95.

    Article  PubMed  Google Scholar 

  30. Salmon J. Fetal alcohol spectrum disorder: New Zealand birth mothers’ experiences. J Popul Ther Clin Pharmacol. 2008;15(2) [cited 2022 Jul 11]. Available from: https://www.jptcp.com.

  31. Chasnoff IJ, Wells AM, King L. Misdiagnosis and missed diagnoses in foster and adopted children with prenatal alcohol exposure. Pediatrics. 2015;135(2):264–70.

    Article  PubMed  Google Scholar 

  32. O’Connor MJ, Best A. Under recognition of prenatal alcohol exposure in a child inpatient psychiatric setting. Ment Health Asp Dev Disabil. 2006;9(4):5.

    Google Scholar 

  33. Petrenko CLM, Tahir N, Mahoney EC, Chin NP. Prevention of secondary conditions in fetal alcohol spectrum disorders: identification of systems-level barriers. Matern Child Health J. 2014;18(6):1496–505.

    Article  PubMed  PubMed Central  Google Scholar 

  34. May PA, Chambers CD, Kalberg WO, Zellner J, Feldman H, Buckley D, et al. Prevalence of fetal alcohol Spectrum disorders in 4 US communities. JAMA. 2018;319(5):474–82.

    Article  PubMed  PubMed Central  Google Scholar 

  35. Goh PK, Doyle LR, Glass L, Jones KL, Riley EP, Coles CD, et al. A decision tree to identify children affected by prenatal alcohol exposure. J Pediatr. 2016;177:121–127.e1.

    Article  PubMed  PubMed Central  Google Scholar 

  36. Bernes GA, Courchesne-Krak NS, Hyland MT, Villodas MT, Coles CD, Kable JA, et al. Development and validation of a postnatal risk score that identifies children with prenatal alcohol exposure. Alcohol Clin Exp Res. 2022;46(1):52–65.

    Article  PubMed  Google Scholar 

  37. Del Campo M, Beach D, Wells A, Jones KL. Use of telemedicine for the physical examination of children with fetal alcohol spectrum disorders. Alcohol Clin Exp Res. 2021;45(2):409–17.

    Article  PubMed  Google Scholar 

  38. Arora S, Kalishman S, Thornton K, Dion D, Murata G, Deming P, et al. Expanding access to hepatitis C virus treatment—Extension for Community Healthcare Outcomes (ECHO) project: disruptive innovation in specialty care. Hepatology. 2010;52(3):1124–33.

    Article  PubMed  Google Scholar 

  39. Cole L. ECHO FASD: tele-mentoring program to increase healthcare capacity for fetal alcohol Spectrum disorder (FASD) diagnosis. Rochester, NY: University of Rochester School of Nursing; 2021.

    Google Scholar 

  40. Suttie M, Foroud T, Wetherill L, Jacobson JL, Molteno CD, Meintjes EM, et al. Facial dysmorphism across the fetal alcohol spectrum. Pediatrics. 2013;131(3):e779–88.

    Article  PubMed  PubMed Central  Google Scholar 

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Author information

Authors and Affiliations

  1. Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, USA

    Omar A. Abdul-Rahman

  2. Mt. Hope Family Center, University of Rochester, Rochester, NY, USA

    Christie L. M. Petrenko

  3. Division of Developmental and Behavioral Pediatrics, University of Rochester Medical Center, Rochester, NY, USA

    Lynn L. Cole

Authors
  1. Omar A. Abdul-Rahman
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  2. Christie L. M. Petrenko
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  3. Lynn L. Cole
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Corresponding author

Correspondence to Omar A. Abdul-Rahman .

Editor information

Editors and Affiliations

  1. Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, NY, USA

    Omar A. Abdul-Rahman

  2. Mt. Hope Family Center, Department of Psychology, University of Rochester, Rochester, NY, USA

    Christie L. M. Petrenko

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© 2023 The Author(s), under exclusive license to Springer Nature Switzerland AG

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Abdul-Rahman, O.A., Petrenko, C.L.M., Cole, L.L. (2023). The Diagnostic Process. In: Abdul-Rahman, O.A., Petrenko, C.L.M. (eds) Fetal Alcohol Spectrum Disorders . Springer, Cham. https://doi.org/10.1007/978-3-031-32386-7_9

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  • DOI: https://doi.org/10.1007/978-3-031-32386-7_9

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-031-32385-0

  • Online ISBN: 978-3-031-32386-7

  • eBook Packages: MedicineMedicine (R0)

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