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Introduction: During fetal alcohol spectrum disorder (FASD) prevalence studies in South Africa, cases of fetal alcohol syndrome (FAS) were identified that presented differently from the 2016 Hoyme et al. modified Institute of Medicine (IOM) criteria. We compared diagnostic outcomes of children diagnosed with FAS using a combination of the 2005 Hoyme et al. criteria and the "gestalt method" in South Africa to the diagnosis they would have received using the latest Hoyme et al. criteria. The frequency with which dysmorphic features presented was compared to the frequency with which they were reported in the revised criteria which drew on a larger sample., Methods: Data were gathered from four South African FASD prevalence studies. Dysmorphology data, anthropometric data, and final diagnosis for participants (N = 917) were extracted., Results: Of the 390 participants with diagnoses of "full FAS," 175 would not have received a "full FAS" diagnosis using the 2016 criteria. Of these, 21 would have received a pFAS diagnosis, and 154 would have received a diagnosis of ARND or a "no-FASD" diagnosis. The frequency of all but five dysmorphic features differ significantly between this sample and the sample examined for the 2016 criteria. There is more variability in the features present in the current sample., Discussion: Differences regarding diagnostic outcomes and prevalence of dysmorphic features suggest that strict application of the diagnostic criteria may miss children who present with FAS. We recommend including gestalt-based screening in a research setting where the clinical experience is available to inform future guidelines., (© 2018 Wiley Periodicals, Inc.)

Background: Mixed ancestry populations in South Africa have amongst the highest rates of fetal alcohol syndrome (FAS) worldwide. Defining the drinking patterns of women with a FAS child guides FAS preventive interventions., Methods: Data were drawn from FAS prevalence surveys conducted in three districts: Witzenberg (Cape Winelands), Frances Baard (inland mining town) and Saldanha Bay (coastal towns). 156 mothers and 50 proxy informants of school-entry children diagnosed with FAS and partial-FAS were interviewed, and compared with 55 controls recruited in Saldanha Bay., Results: Study participants were of low socio-economic status (SES), and a majority of children were either in foster care (12%) or had been cared for by relatives for long periods (44%). Of cases, 123/160 (77%) reported current drinking, similar between sites. During pregnancy, only 35% (49/139) of cases had stopped drinking, varying between sites (from 21% to 54% in chronological order of surveys; p<0.001), while 6% (7/109) increased drinking. Though many women who stopped in pregnancy resumed postpartum, cessation in pregnancy was strongly associated with discontinuation in the long run (OR=3.3; 95%CI=1.2-8.9; p=0.005). At interview, 36% of cases (54/151) and 18% of controls (9/51) were at risk of an alcohol-exposed pregnancy (p=0.02). Median maternal mass of cases was 22kg lower than controls, with 20% being underweight and 14% microcephalic., Conclusions: Increasing rates of drinking cessation during pregnancy over time suggest rising awareness of FAS. Cessation is associated with recidivism after pregnancy but also with reduced long-term drinking. Interventions should target alcohol abstinence in pregnancy, but extend into the puerperium., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

Aims: Prevalence of fetal alcohol spectrum disorders (FASDs) is remarkably high in several provinces of South Africa; yet population-level knowledge of the harms of maternal drinking remains low. In two heavily affected areas, we assessed effectiveness of interventions to heighten awareness of these harms and to alter social norms about drinking in pregnancy., Methods: FASD prevalence, maternal knowledge and drinking behaviours were investigated in two Northern Cape Province towns, before and after interventions which included highlighting FASD using local media and health promotion talks at health facilities. Independently, two dysmorphologists and a neuropsychometrist examined children at 9 and 18 months., Results: Pre-intervention maternal knowledge of alcohol harms was low and FASD prevalence 8.9% (72/809). Interventions reached high coverage and knowledge levels increased substantially. FASD prevalence was 5.7% post-intervention (43/751; P = 0.02); 0.73 lower odds, controlling for maternal age and ethnicity (95% confidence interval = 0.58-0.90). No change was detected in more severe FASD forms, but in the whole population, median dysmorphology scores reduced from 4 [inter-quartile range (IQR) = 2-7] to 3 (IQR = 1-6; P = 0.002)., Conclusion: This, the first prevention study using FASD outcomes, suggests that universal prevention might reduce FASD by ∼30% and have population-level effects. This supports intensifying universal interventions where knowledge of harms of maternal drinking is low. These efforts need to be accompanied by alcohol-dependence treatment to lower more severe FASD forms.

Objectives: This is a third exploration of risk factors for the two most severe forms of fetal alcohol spectrum disorders (FASD), fetal alcohol syndrome (FAS) and Partial FAS (PFAS), in a South African community with the highest reported prevalence of FAS in the world., Methods: In a case control design, interview and collateral data concerning mothers of 72 first grade children with FAS or PFAS are compared with 134 randomly selected maternal controls of children from the same schools., Results: Significant differences were found between the mothers of FASD children and controls in socio-economic status, educational attainment, and a higher prevalence of FASD among rural residents. The birth order of the index children, gravidity, and still birth were significantly higher among mothers of FASD children. Mothers of children with a FASD are less likely to be married and more likely to have a male partner who drank during the index pregnancy. Current and gestational alcohol use by mothers of FASD children is bingeing on weekends, with no reduction in drinking reported in any trimester in 75 to 90% of the pregnancies that resulted in an FAS child or during 50 to 87% of PFAS-producing pregnancies. There was significantly less drinking among the controls in the second and third trimesters (11 to 14%). Estimated peak blood alcohol concentrations (BAC)s of the mothers of PFAS children range from 0.155 in the first trimester to 0.102 in the third, and for mothers of FAS children the range is from 0.197 to 0.200 to 0.191 in the first, second, and third. Smoking percentage during pregnancy was significantly higher for mothers of FASD children (82 to 84%) than controls (35%); but average quantity smoked is low in the 3 groups at 30 to 41 cigarettes per week. A relatively young average age of the mother at the time of FAS and PFAS births (28.8 and 24.8 years respectively) is not explained by early onset of regular drinking (mean = 20.3 to 20.5 years of age). But the mean years of alcohol consumption is different between groups, 16.3, 10.7, and 12.1 years respectively for mothers of FAS, FASD, and drinking controls. Mothers of FAS and PFAS children were significantly smaller in height and weight than controls at time of interview. The child's total dysmorphology score correlates significantly with mother's weight (-0.46) and BMI (-0.39). Bivariate correlations are significant between the child's dysmorphology and known independent demographic and behavioral maternal risk factors for FASD: higher gravidity and parity; lower education and income; rural residence; drinks consumed daily, weekly, and bingeing during pregnancy; drinking in all trimesters; partner's alcohol consumption during pregnancy; and use of tobacco during pregnancy. Similar significant correlations were also found for most of the above independent maternal risk variables and the child's verbal IQ, non-verbal IQ and behavioral problems., Conclusions: Maternal data in this population are generally consistent with a spectrum of effects exhibited in the children. Variation within the spectrum links greater alcohol doses with a greater severity of effects among children of older and smaller mothers of lower socio economic status in their later pregnancies. Prevention is needed to address known maternal risk factors for FASD in this population.

Objective: To examine the effects of prenatal alcohol exposure ascertained prospectively on infant visual acuity across a range of exposures and factors that mediate or moderate these effects., Study Design: Infant visual acuity was examined in 131 Cape Coloured (mixed ancestry) maternal-infant pairs in Cape Town, South Africa. Drinking patterns were documented by maternal reporting during pregnancy. Grating acuity was assessed with Teller Acuity Cards (TAC) at 6.5 months after term. Data were analyzed by correlation, multiple regression, and analysis of variance., Results: Greater average daily prenatal alcohol exposure was related to poorer acuity, as indicated by lower TAC scores. The effect of alcohol on acuity was significant primarily for infants born to mothers > or =30 years of age at delivery, in comparison to infants born to younger mothers. This effect was not mediated by gestational age or birth size or attributable to alcohol-related neurocognitive deficits., Conclusions: This study linked prenatal alcohol exposure ascertained prospectively to poorer visual acuity in infancy. The results are consistent with clinical and animal evidence of alcohol-related disruption of the visual system.

Objectives: We defined risk factors for fetal alcohol syndrome (FAS) in a region with the highest documented prevalence of FAS in the world., Methods: We compared mothers of 53 first-grade students with FAS (cases) with 116 randomly selected mothers of first-grade students without FAS (controls)., Results: Differences between case and control mothers in our study population existed regarding socioeconomic status, religiosity, education, gravidity, parity, and marital status. Mothers of children with FAS came from alcohol-abusing families in which heavy drinking was almost universal; control mothers drank little to no alcohol. Current and past alcohol use by case mothers was characterized by heavy binge drinking on weekends, with no reduction of use during pregnancy in 87% of the mothers. Twenty percent of control mothers drank during pregnancy, a rate that declined to 12.7% by the third trimester. The percentage who smoked during pregnancy was higher for case mothers than for control mothers (75.5% vs 30.3%), but the number of cigarettes smoked was low among case mothers. The incidence of FAS in offspring of relatively young women (28 years) was not explained by early drinking onset or years of drinking (mean, 7.6 years among case mothers). In addition to traditional FAS risk factors, case mothers were smaller in height, weight, head circumference, and body mass index, all anthropomorphic measures that indicate poor nutrition and second-generation fetal alcohol exposure., Conclusions: Preventive interventions are needed to address maternal risk factors for FAS.

Aims: To determine the alcohol exposure and pharmacokinetics of alcohol in a group of women who had given birth to children with FAS, compared with women who had not given birth to FAS children., Methods: 10 women who had given birth to FAS children (FAS mothers) and 20 Controls were studied to determine how they metabolize alcohol in a single limited-access quasi-experimental session of voluntary consumption of alcohol. They had free choice in the consumption of any amount of their favourite beverage for approximately 2.5 h, but their drinking was terminated if the breath alcohol concentrations (BrAC) exceeded 150 mg%. BrACs was measured during ethanol consumption and for several hours after, for estimation of alcohol exposure and pharmacokinetics., Results: FAS mothers consumed significantly larger amounts of alcohol, and achieved significantly higher peak BrAC levels than Controls. The rate of decline of alcohol from the circulation (beta-60) showed a 2-fold variation across subjects but there was no significant difference between the two groups., Conclusions: This study did not show any difference in alcohol pharmacokinetics in free-choice drinking by non-pregnant women, who either have given or have never given birth to FAS children. However, mothers of FAS children tend to consume more alcohol per session. Future studies in larger samples will be needed to confirm these findings and to examine drinking patterns and other factors that may increase the risk of FAS in children of women who drink alcohol during pregnancy.

Data were obtained from three samples of women of childbearing age. One sample of women is from prenatal clinics serving Plains Indian women. The second sample is of women from the Plains whose children were referred to special diagnostic developmental clinics, as their children were believed to have developmental issues consistent with prenatal alcohol consumption. The third sample is of women from South Africa, each of whom has given birth to a child diagnosed with full fetal alcohol syndrome (FAS). Data across samples conform to expected trends on many variables. For example, the maternal age at time of pregnancy, a major risk factor for FAS, ranged from a mean of 23.5 years for the prenatal clinic sample, to 23.8 years for the developmental clinic sample, to 27.6 for the sample of women who have delivered children with FAS. Other variables of maternal risk for FAS expected from the extant literature, such as high gravidity and parity, binge drinking, heavy intergenerational drinking in the mother's extended family and immediate social network, and length of drinking career, were compared across the three samples with variable results. However, normative measures of drinking problems are unreliable when reported across cultures. An unexpected finding from this three-sample comparison was the differential risk found when comparing U.S. women to South African women. Women in the U.S. Plains Indian samples report a high consumption of alcohol in a binge pattern of drinking, yet there is less detectable damage to the fetus than among the South African women. Body mass index (BMI) and lifelong and current nutrition may have a substantial impact, along with the above factors, in relative risk for an FAS birth. The level of risk for producing a child with FAS is influenced by environmental and behavioral conditions that vary between populations and among individual women. Also, because many syndromes are genetically based, there is a need for full behavioral and genetic histories of the mother, family, and child being studied. Collecting extensive behavioral information as well as genetic histories will provide the requisite information for making an accurate diagnosis of FAS., (Copyright 2004 Wiley-Liss, Inc.)

Objective: To test the sensitivity and specificity of fatty acid ethyl esters (FAEEs) extracted from meconium to identify alcohol-using pregnant women with a sensitive and specific methodology, gas chromatography-tandem mass spectroscopy (GC/MS/MS). Study design Twenty-seven samples of meconium were obtained from infants from the mixed race community in Cape Town, South Africa, who were enrolled in a longitudinal neurobehavioral study. Maternal alcohol use was reported prospectively during pregnancy. FAEEs were isolated from meconium and quantitated by GC/MS/MS., Results: Ethyl oleate was the FAEE that correlated most strongly with maternal self-reported drinking, especially with the average ounces of absolute alcohol ingested per drinking day. Ethyl oleate was most strongly related to drinking in the second and third trimesters (Pearson r=.55 and.40, respectively). At a threshold of 1.5 average ounces of absolute alcohol ingested per drinking day, the area under the receiving operator characteristic curve was.92 (95% confidence interval, 0.74-0.97). Using a cut-off value of 32 ng/g, sensitivity was 84.2% and specificity was 83.3%., Conclusions: Ethyl oleate concentration in meconium assayed by GC/MS/MS provides a highly sensitive and specific indicator of maternal alcohol use during pregnancy.