Cited by 876Prenatal Substance Exposure EffectsFetal and Pediatric Neurological DisordersSubstance Abuse Treatment and Outcomes

Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders

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Hoyme, H. Eugene, Kalberg, Wendy O., Elliott, Amy J., Blankenship, Jason, Buckley, David, Marais, Anna-Susan, Manning, Melanie A., Robinson, Luther K. +12 more·2016·Pediatrics

Abstract

The adverse effects of prenatal alcohol exposure constitute a continuum of disabilities (fetal alcohol spectrum disorders [FASD]). In 1996, the Institute of Medicine established diagnostic categories delineating the spectrum but not specifying clinical criteria by which diagnoses could be assigned. In 2005, the authors published practical guidelines operationalizing the Institute of Medicine categories, allowing for standardization of FASD diagnoses in clinical settings. The purpose of the current report is to present updated diagnostic guidelines based on a thorough review of the literature and the authors’ combined expertise based on the evaluation of >10 000 children for potential FASD in clinical settings and in epidemiologic studies in conjunction with National Institute on Alcohol Abuse and Alcoholism–funded studies, the Collaborative Initiative on Fetal Alcohol Spectrum Disorders, and the Collaboration on FASD Prevalence. The guidelines were formulated through conference calls and meetings held at National Institute on Alcohol Abuse and Alcoholism offices in Rockville, MD. Specific areas addressed include the following: precise definition of documented prenatal alcohol exposure; neurobehavioral criteria for diagnosis of fetal alcohol syndrome, partial fetal alcohol syndrome, and alcohol-related neurodevelopmental disorder; revised diagnostic criteria for alcohol-related birth defects; an updated comprehensive research dysmorphology scoring system; and a new lip/philtrum guide for the white population, incorporating a 45-degree view. The guidelines reflect consensus among a large and experienced cadre of FASD investigators in the fields of dysmorphology, epidemiology, neurology, psychology, developmental/behavioral pediatrics, and educational diagnostics. Their improved clarity and specificity will guide clinicians in accurate diagnosis of infants and children prenatally exposed to alcohol.

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Authors
Hoyme, H. E., Kalberg, W. O., Elliott, A. J., Blankenship, J., Buckley, D., Marais, A.-S., Manning, M. A., Robinson, L. K., Adam, M. P., Abdul-Rahman, O., Jewett, T., Coles, C. D., Chambers, C., Jones, K. L., Adnams, C. M., Shah, P. E., Riley, E. P., Charness, M. E., Warren, K. R., & May, P. A.
Affiliations
  • University of Arizona (US)
  • University of New Mexico (US)
  • University of South Dakota (US)
  • Stellenbosch University (ZA)
  • Stanford Medicine (US)
  • University at Buffalo, State University of New York (US)
  • University of Washington (US)
  • University of Mississippi Medical Center (US)
  • Wake Forest University Health Sciences (US)
  • Emory University (US)
  • University of California San Diego (US)
  • University of Cape Town (ZA)
  • University of Michigan (US)
  • San Diego State University (US)
  • Boston University (US)
  • National Institute on Alcohol Abuse and Alcoholism (US)
  • University of North Carolina at Chapel Hill (US)
Corresponding author
Hoyme, H. Eugene
Venue
Pediatrics
Published
2016-08-01
Volume
138
Issue
2
ISSN
  • 0031-4005 (ISSN-L)
  • 1098-4275
OpenAlex
W2492998196
Cited by
876
References
112
Citations by year
2026: 60 · 2025: 83 · 2024: 92 · 2023: 144 · 2022: 75 · 2021: 97 · 2020: 132 · 2019: 77 · 2018: 52 · 2017: 54 · 2016: 8 · 2015: 1 · 2012: 1
FWCI
73.33
Type
journal article
Language
en
Open access
Locations
  • PEDIATRICS (publishedVersion)
  • Europe PMC (PubMed Central) (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion)
  • eScholarship (California Digital Library) (submittedVersion)
  • UNC Libraries
Funders
  • National Institutes of Health
  • National Institute on Alcohol Abuse and Alcoholism (U01AA019879, R01AA011685)
Topics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Substance Exposure Effects
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
  • Health Sciences › Medicine › Epidemiology › Substance Abuse Treatment and Outcomes
Keywords
fetal alcohol spectrum disorders, prenatal alcohol exposure, diagnostic criteria, fetal alcohol syndrome, partial fetal alcohol syndrome, alcohol-related neurodevelopmental disorder, alcohol-related birth defects, neurobehavioral assessment
MeSH terms
Adolescent, Alcohol Drinking, Child, Child, Preschool, Diagnosis, Differential, Humans, Infant, Infant, Newborn, Maternal Behavior, Neuropsychological Tests, Pediatrics, Physical Examination, Physician's Role, Sensitivity and Specificity, Fetal Alcohol Spectrum Disorders

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