The 1996 IOM criteria remain the most appropriate diagnostic approach for children prenatally exposed to alcohol. The proposed revisions presented here make these criteria applicable in clinical pediatric practice.

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 Alcoholismfunded 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 alcoholrelated 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. abstract

Estimated prevalence of fetal alcohol spectrum disorders among first-graders in 4 US communities ranged from 1.1% to 5.0% using a conservative approach. These findings may represent more accurate US prevalence estimates than previous studies but may not be generalizable to all communities.

A high rate of FAS and PFAS was again documented in this community, and it has increased. Given population similarities, we suspect that other communities in the Western Cape Province of South Africa also have high rates. Programs for prevention are needed.

(Abstracted from JAMA 2018;319(5):474–482) Several single-site, active-case ascertainment studies in the United States have shown widely varying prevalence estimates for fetal alcohol spectrum disorders, composed of fetal alcohol syndrome, partial fetal alcohol syndrome, and alcohol-related neurodevelopmental disorder. Prevalence of fetal alcohol spectrum disorders are challenging to estimate using routine surveillance methods, and cases are often misdiagnosed or undiagnosed.

ABSTRACT. Objective: The aim of the study was to determine the prevalence and characteristics of fetal alcohol syndrome (FAS) in a second primary school cohort in a community in South Africa. Method: Active case ascertainment, two-tier screening, and Institute of Medicine assessment methodology were employed among 857 first grade pupils, most born in 1993. Characteristics of children with FAS were contrasted with characteristics of a randomly selected control group from the same classrooms. Physical growth and development, dysmorphology and psychological characteristics of the children and measures of maternal alcohol use and smoking were analyzed. Results: The rate of FAS found in this study is the highest yet reported in any overall community in the world, 65.2-74.2 per 1,000 children in the first grade population. These rates are 33-148 times greater than U.S. estimates and higher than in a previous cohort study in this same community (40.5-46.4 per 1,000). Detailed documentation of physical features indicates that FAS children in South Africa have characteristics similar to those elsewhere: poor growth and development, facial and limb dysmorphology, and lower intellectual functioning. Frequent, severe episodic drinking of beer and wine is common among mothers and fathers of FAS children. Their lives are characterized by serious familial, social and economic challenges, compared with controls. Heavy episodic maternal drinking is significantly associated with negative outcomes of children in the area of nonverbal intelligence but even more so in verbal intelligence, behavior and overall dysmorphology (physical anomalies). Significantly more FAS exists among children of women who were rural residents (odds ratio: 7.36, 95% confidence interval: 3.31-16.52), usually among workers on local farms. Conclusion: A high rate of FAS was documented in this community. Given social and economic similarities and racial admixture, we suspect that other communities in the Western Cape have rates that also are quite high. (J. Stud. Alcohol 66: [593][594][595][596][597][598][599][600][601][602][603][604] 2005)

Using careful measures of ascertainment in a primary school setting, these results provide relatively high estimates of the prevalence of FASD and raise the question of whether FASD is more common in the western world than previously estimated.

Alcohol readily crosses the placenta and may disrupt fetal development. Harm from prenatal alcohol exposure (PAE) is determined by the dose, pattern, timing and duration of exposure, fetal and maternal genetics, maternal nutrition, concurrent substance use, and epigenetic responses. A safe dose of alcohol use during pregnancy has not been established. PAE can cause fetal alcohol spectrum disorders (FASD), which are characterized by neurodevelopmental impairment with or without facial dysmorphology, congenital anomalies and poor growth. FASD are a leading preventable cause of birth defects and developmental disability. The prevalence of FASD in 76 countries is >1% and is high in individuals living in out-of-home care or engaged in justice and mental health systems. The social and economic effects of FASD are profound, but the diagnosis is often missed or delayed and receives little public recognition. Future research should be informed Nature Reviews Disease Primers | (2023) 9:11 2 0123456789();: PrimerFASD occur in all socioeconomic and ethnic groups 15 and are complex, chronic conditions that affect health and family functioning 16 . Individuals with FASD usually require lifelong health care as well as social and vocational support. Some require remedial education and others interact with the justice system. Early diagnosis and a strength-based management approach will optimize health outcomes.FASD are the most common of the potentially preventable conditions associated with birth anomalies and neurodevelopmental problems 13 , and their global effects, including huge social and economic costs, are substantial 17 . For example, in Canada, the annual cost associated with FASD is an estimated ~CAD$ 1.8 billion (CAD$ 1.3 billion to CAD$ 2.3 billion) 17 , which is attributable in part to productivity loss (41%), correction services (29%) and health care (10%). In North America, the lifetime cost of supporting an individual with FASD is estimated at >CAD$ 1 million 18 . Addressing and preventing alcohol use in pregnancy is a public-health imperative.This Primer presents the epidemiology of FASD and the latest understanding of its pathophysiology as well as approaches to diagnosis, screening and prevention. The Primer also describes outcomes across the lifespan, management and quality of life (QOL) of people living with FASD, and highlights important areas for future research and clinical practice. Epidemiology Alcohol use during pregnancyNo safe level of PAE has been established 19 , and international guidelines advise against any amount or type of alcohol use during pregnancy [20][21][22][23] . Nevertheless, ~10% of pregnant women worldwide consume alcohol 24,25 . The highest prevalence of alcohol use during pregnancy is in the WHO European Region (25.2% 24 ; Fig. 1), consistent with the prevalence of heavy alcohol use, heavy episodic drinking and alcohol use disorders in this region 26 . 0123456789();: PrimerIn 40% of the 162 countries evaluated, >25% of women who consumed any alcohol during pregnancy drank at 'bing...