title: Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders.
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.
authors.affiliation: Sanford Research and Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, South Dakota; Center for Applied Genetics and Genomic Medicine and Department of Pediatrics, University of Arizona College of Medicine, Tucson, Arizona; gene.hoyme@sanfordhealth.org.
authors.forename: H Eugene
authors.initials: HE
authors.lastname: Hoyme
authors.affiliation: Center on Alcoholism, Substance Abuse and Addictions, University of New Mexico, Albuquerque, New Mexico;
authors.forename: Wendy O
authors.initials: WO
authors.lastname: Kalberg
authors.affiliation: Sanford Research and Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, South Dakota;
authors.forename: Amy J
authors.initials: AJ
authors.lastname: Elliott
authors.affiliation: Center on Alcoholism, Substance Abuse and Addictions, University of New Mexico, Albuquerque, New Mexico;
authors.forename: Jason
authors.initials: J
authors.lastname: Blankenship
authors.affiliation: Center on Alcoholism, Substance Abuse and Addictions, University of New Mexico, Albuquerque, New Mexico;
authors.forename: David
authors.initials: D
authors.lastname: Buckley
authors.affiliation: Stellenbosch University Faculty of Medicine and Health Sciences, Stellenbosch, South Africa;
authors.forename: Anna-Susan
authors.initials: AS
authors.lastname: Marais
authors.affiliation: Departments of Pathology and Pediatrics, Stanford University School of Medicine, Stanford, California;
authors.forename: Melanie A
authors.initials: MA
authors.lastname: Manning
authors.affiliation: Department of Pediatrics, State University of New York at Buffalo School of Medicine and Biomedical Sciences, Buffalo, New York;
authors.forename: Luther K
authors.initials: LK
authors.lastname: Robinson
authors.affiliation: Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington;
authors.forename: Margaret P
authors.initials: MP
authors.lastname: Adam
authors.affiliation: Department of Pediatrics, University of Mississippi School of Medicine, Jackson, Mississippi;
authors.forename: Omar
authors.initials: O
authors.lastname: Abdul-Rahman
authors.affiliation: Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, North Carolina;
authors.forename: Tamison
authors.initials: T
authors.lastname: Jewett
authors.affiliation: Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, Atlanta, Georgia;
authors.forename: Claire D
authors.initials: CD
authors.lastname: Coles
authors.affiliation: Department of Pediatrics, University of California, San Diego School of Medicine, La Jolla, California;
authors.forename: Christina
authors.initials: C
authors.lastname: Chambers
authors.affiliation: Department of Pediatrics, University of California, San Diego School of Medicine, La Jolla, California;
authors.forename: Kenneth L
authors.initials: KL
authors.lastname: Jones
authors.affiliation: Department of Psychiatry and Mental Health, University of Cape Town Faculty of Health Sciences, Cape Town, South Africa;
authors.forename: Colleen M
authors.initials: CM
authors.lastname: Adnams
authors.affiliation: Department of Pediatrics and Communicable Diseases, University of Michigan Medical School, Ann Arbor, Michigan;
authors.forename: Prachi E
authors.initials: PE
authors.lastname: Shah
authors.affiliation: Department of Psychology, San Diego State University, San Diego, California;
authors.forename: Edward P
authors.initials: EP
authors.lastname: Riley
authors.affiliation: VA Boston Healthcare System, Department of Neurology, Harvard Medical School, and Department of Neurology, Boston University School of Medicine, Boston, Massachusetts;
authors.forename: Michael E
authors.initials: ME
authors.lastname: Charness
authors.affiliation: National Institute on Alcohol Abuse and Alcoholism, Bethesda, Maryland; and.
authors.forename: Kenneth R
authors.initials: KR
authors.lastname: Warren
authors.affiliation: Sanford Research and Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, South Dakota; Center on Alcoholism, Substance Abuse and Addictions, University of New Mexico, Albuquerque, New Mexico; Department of Nutrition, Gillings School of Global Public Health, Nutrition Research Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
authors.forename: Philip A
authors.initials: PA
authors.lastname: May
mesh_terms: D000293:Adolescent; D000428:Alcohol Drinking / Q000009:adverse effects; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D063647:Fetal Alcohol Spectrum Disorders / Q000175:diagnosis* / Q000209:etiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008425:Maternal Behavior; D009483:Neuropsychological Tests; D010372:Pediatrics; D010808:Physical Examination; D010819:Physician's Role; D012680:Sensitivity and Specificity