Clinical presentation, diagnosis, and management of fetal alcohol spectrum disorder

Jeffrey R. Wozniak, Edward P. Riley, Michael E. Charness

Research output: Contribution to journalReview articlepeer-review

16 Scopus citations


Although prenatal alcohol exposure causes craniofacial anomalies, growth retardation, neurological abnormalities, cognitive impairment, and birth defects, fetal alcohol spectrum disorder is underdiagnosed. Global prevalence of fetal alcohol spectrum disorder is 0·77%, with a higher prevalence of 2–5% in Europe and North America, highlighting the need for increased diagnosis and treatment. However, diagnosis remains challenging because of the poor reliability of self-reported maternal drinking histories, an absence of sensitive biomarkers, and the infrequency of diagnostic dysmorphic facial features among individuals with fetal alcohol spectrum disorder. Different diagnostic systems and disagreements over criteria have slowed progress in the diagnosis and management of the disorder. Neuroimaging shows abnormalities in brain structure, cortical development, white matter microstructure, and functional connectivity in individuals with fetal alcohol spectrum disorder. These abnormalities modify developmental trajectories and are associated with deficits in cognition, executive function, memory, vision, hearing, motor skills, behaviour, and social adaptation. Promising trials of nutritional interventions and cognitive rehabilitation therapies are underway, with the aim of treating cognitive deficits in fetal alcohol spectrum disorders.

Original languageEnglish (US)
Pages (from-to)760-770
Number of pages11
JournalThe Lancet Neurology
Issue number8
StatePublished - Aug 2019

Bibliographical note

Funding Information:
JRW, EPR, and MEC received grant funding from the US National Institute on Alcohol Abuse and Alcoholism during the writing of this review. EPR is on the Board of Directors of the National Organization on Fetal Alcohol Syndrome, although he is not compensated for his board service. MEC reports receiving grant funding from the Medical Research Service of the Department of Veteran Affairs during the writing of this review. MEC also receives royalties from a chapter in UpToDate on neurological complications of alcoholism. MEC holds two US patents related to compounds that block the effects of alcohol on the L1 cell adhesion molecule and decrease the teratogenic effects of alcohol: US6359015B1 and US6977272B2 .

PubMed: MeSH publication types

  • Journal Article
  • Review

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