Comparing diagnostic outcomes of children with fetal alcohol syndrome in South Africa with diagnostic outcomes when using the updated Institute of Medicine diagnostic guidelines.

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.

Changes in drinking patterns during and after pregnancy among mothers of children with fetal alcohol syndrome: A study in three districts of South Africa.

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.

Prevalence of fetal alcohol syndrome in a South African city with a predominantly Black African population.

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.