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Background: South Africa has the highest reported prevalence of fetal alcohol spectrum disorders (FASD) globally. The most recent study reported a weighted, estimated FASD prevalence of 310 per 1000 in a community in the Western Cape Province. Because there is as yet no reliable estimate of the national burden of FASD in South Africa, further epidemiological studies are needed in diverse settings. This paper reports on a multiyear, multisite FASD epidemiological study that took place from 2015 to 2022 at eight study sites in four provinces. Methods: The cross‐sectional epidemiological study used an active case‐ascertainment method, specifically in primary schools. All children were recruited when they were enrolled in Grade 1 at a participating school. All consented participants progressed through a tiered‐screening recruitment and diagnostic process. Results: Overall, 3033 children were included in the study. A total of 3001 children were screened for FASD in the first tier, with 1086 progressing to the second and 495 to the third tier. Of the 495 children referred, 475 were discussed during the final case conference. A total of 309 participants were diagnosed with FAS across the eight study sites. The highest reported prevalence was in the Northern Cape Province, with a rate of 199.3/1000 (95% CI, 147.6–251) using all eligible participants as the denominator. The lowest prevalence was in the Eastern Cape Province, with a rate of 57.4/1000 (95% CI, 36.5–78.3). The pooled FAS prevalence for the eight study sites was 80.2/1000 (95% CI, 70.4–89.9). Conclusions: As with previous studies, we found a concerningly high prevalence of FASD in South Africa. Given the scope of the problem it should be a high priority for health and welfare services to address. [ABSTRACT FROM AUTHOR]

Aim: This study examined the effects of prenatal alcohol exposure on childhood development trajectories in a rural South African community between 2003 and 2008.Methods: We assessed 121 children at 7-12 months (year one) and 5-6 years (year five) using the Griffiths Mental Developmental Scales - Extended Revised, which measures sensorimotor, cognitive and social development, with lower scores indicating developmental delay. We also interviewed their mothers or caregivers. Three groups were identified: 29 with foetal alcohol syndrome (FAS) or partial FAS (pFAS), 57 more who had been exposed to alcohol and 35 controls who had not.Results: The scale's total score was higher in the controls than in the FAS/pFAS group at year one and year five and in the alcohol-exposed group at year five. Many groups' trajectories declined when compared with global norms, but the trajectories in the FAS/pFAS and the alcohol-exposed groups declined more than the controls for eye-hand and performance and total score. Earlier pregnancy recognition in the FAS/pFAS group correlated strongly (r = -0.77) with higher GQ in year five.Conclusion: FAS/pFAS and prenatal alcohol exposure affected the Griffiths scores more than the control group. Efforts are needed to detect pregnancy early and reduce alcohol exposure. [ABSTRACT FROM AUTHOR]

Background Fetal alcohol spectrum disorder ( FASD) and fetal alcohol syndrome ( FAS) are common in some South African populations, notably those of mixed ancestry descent in rural areas and small towns. Little is known about FAS/ FASD prevalence in the majority of South Africans: city dwellers of Black African ethnicity. This study describes the prevalence of FAS in a South African city, comparing 2 suburbs with predominantly mixed ancestry (Roodepan) and Black African (Galeshewe) populations that house over 60% of the city population. Methods We conducted a tiered, active case ascertainment study for the prevalence of FAS and also detected some less clinically specific FASD cases. All first-grade learners in the 2 suburbs were eligible for anthropometric screening, and screen-positive learners were assessed for dysmorphic features of FAS. Those with suggestive clinical features received neurocognitive assessment, and maternal or collateral interview. Final diagnosis was made following a case conference. Results Complete ascertainment of FAS status was made in 1,503 (94.7%) of 1,587 eligible learners (435 in Roodepan and 1,152 in Galeshewe). Overall, FAS was diagnosed in 83 (5.5%, 95% confidence interval [CI] = 4.4 to 6.8) learners and FASD in 96 (6.4%, 95% CI = 5.2 to 7.7). Levels of FAS were high in both areas: 26 (6.3%, 95% CI = 4.2 to 9.2) learners from Roodepan, compared to 57 (5.2%, 95% CI = 4.0 to 6.7) from Galeshewe ( p = 0.39). No cases were previously diagnosed. The mortality rate for mothers of FASD children from Galeshewe was 19 of 65 (29%), compared to 3 of 31 (9.7%; p = 0.03) for Roodepan. Interviewed mothers in Galeshewe were older and had higher body mass index. Conclusions Prevalence of FAS is high in both Galeshewe and Roodepan, and the lack of prior diagnoses indicates that awareness remains low. The maternal mortality rate was especially high in Galeshewe. The unexpectedly high burden of FAS in an urban area with predominantly Black African population mandates extension of surveillance and intervention measures in southern Africa. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: Even though fetal alcohol syndrome (FAS) has been reported in nonwestern nations, there is a paucity of information on neurodevelopment in the affected children from those nations. This article reports on a study of cognitive-motor development in a group of children with FAS from a community in the Western Cape Province in South Africa. Methods: Thirty-four children with FAS and 34 controls from grade 1 (school entry level) classes participated. The two groups comprised Afrikaans-speaking children of mixed ancestry (South African Colored) and were matched for age, sex, and family income. The Griffiths Mental Development Scales were used to assess cognitive motor development of the participants. Results: A multivariate analysis of covariance was performed to test the group effect on the combined Griffiths subscales adjusting for maternal education. The results showed a significant group effect. Follow-up analyses revealed that a combination of four subscales (Speech and Hearing, Performance, Practical Reasoning, and Eye and Hand Coordination) primarily contributed to the overall effect. Although there was a marginal effect on the Personal-Social subscale, no significant effect on the Locomotor (gross motor) subscale was found. Conclusions: The results showed that the FAS group was markedly deficient only in higher-order cognitive-motor competencies. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Abstract: Background: Pseudoxanthoma elasticum (PXE) is an autosomal recessive metabolic disorder with ectopic mineralization in the skin, eyes and cardiovascular system. PXE is caused by mutations in ABCC6. Objective: To examine 54 unrelated South African PXE patients for ABCC6 PXE causing mutations. Methods: Patients were screened for mutations in ABCC6 using two strategies. The first involved a comprehensive screening of all the ABCC6 exons and flanking regions by dHPLC or sequencing whereas the second involved screening patients only for the common PXE mutations. The ABCC6 gene was screened in ten white and ten black healthy unrelated South Africans in order to examine the level of common non-PXE associated variation. Results: The Afrikaner founder mutation, R1339C, was present in 0.41 of white ABCC6 PXE alleles, confirming the founder effect and its presence in both Afrikaans- (34/63 PXE alleles) and English-speakers (4/28). Eleven mutations were detected in the white patients (of European origin), including two nonsense mutations, 6 missense mutations, two frameshift mutations and a large deletion mutation. The five “Coloured” patients (of mixed Khoisan, Malay, European and African origin) included three compound heterozygotes with R1339C as one of the mutations. The three black patients (sub-Saharan African origin) were all apparent homozygotes for the R1314W mutation. Blacks showed a trend towards a higher degree of neurtral variation (18 variants) when compared to whites (12 variants). Conclusion: Delineation of the ABCC6 mutation profile in South African PXE patients will be used as a guide for molecular genetic testing in a clinical setting and for genetic counselling. [Copyright &y& Elsevier]

Abstract: Objectives: The prevalence and characteristics of fetal alcohol syndrome (FAS) and partial fetal alcohol syndrome (PFAS) were determined in a third primary school cohort in a community in South Africa (SA). Methods: An active case ascertainment, two-tier screening methodology, and the revised Institute of Medicine diagnostic criteria were employed among 818 first grade pupils. Characteristics of children with FAS and PFAS are contrasted with a randomly selected control group. Data were collected and analyzed for children in the study regarding: (1) physical growth and development, including dysmorphology, (2) intelligence and behavioral characteristics, and (3) their mother''s social, behavioral, and physical characteristics. Results: The rate of FAS and PFAS in this area continues as the highest reported in any overall community and is much higher than rates elsewhere. In this cohort it is 68.0–89.2 per 1000. Severe episodic drinking on weekends among mothers of children with FAS and PFAS accounts for 96% of all alcohol consumed. Various measures of maternal drinking are significantly correlated with negative outcomes of children in the areas of non-verbal intelligence (−0.26), verbal intelligence (−0.28), problem behavior (0.31), and overall dysmorphology score (0.59). Significantly more FAS and PFAS exists among children of rural residents (OR=3.79). Conclusions: 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. [Copyright &y& Elsevier]