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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 ≥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. [Copyright &y& Elsevier]

Summary Introduction Fetal alcohol spectrum disorders (FASD) are one of the leading preventable causes of intellectual disabilities (ID). Not much is known about the topic of pediatric incontinence related to FASD, for example nocturnal enuresis (NE), daytime urinary incontinence (DUI), and fecal incontinence (FI). So far, incontinence problems have been examined among children with other specific syndromes. Objective The aim of the present study is to investigate the possible presence of incontinence among children with FASD in a South African cohort. Study design The South African version of the combined questionnaire including the “Parental Questionnaire: Enuresis/Urinary Incontinence” and “Encopresis Questionnaire – Screening Version”; and lower urinary tract symptoms (LUTS) were assessed by the “International-Consultation-on-Incontinence-Questionnaire – Pediatric Lower Urinary Tract Symptom” (ICIQ-CLUTS) among 99 interviewees (e.g. mothers, grandparents) of children with FASD. Moreover, scores on the “Griffiths Mental Development Scales – Extended Revised” (GMDS-ER) were obtained of all included children for further statistical analysis. Results The overall incontinence rate was 20% ( n = 20), in children diagnosed within the FASD spectrum (fetal alcohol syndrome or FAS n = 17, partial fetal alcohol syndrome or pFAS, n = 1, alcohol related neurodevelopmental disorder or ARND n = 2). NE affected 16% ( n = 16) of children with a FASD (FAS n = 13, pFAS n = 1, and ARND n = 2). DUI was reported in one child (FAS), and FI in 4% ( n = 4) of children (again, only FAS). No indication of lower urinary tract symptoms (LUTS) in the clinical range was reported (sample mean score = 5.17). Based on the GMDS-ER, 88% of the children scored lower than 10th percentile. Discussion This is a first study to examine the problems of incontinence among children diagnosed within the spectrum of FASD. The rates for children with a FASD are lower than the rates for many children with special needs, but much higher than for typically developing children. Children with a FASD are mainly affected by NE. Conclusion The problem of incontinence among children with a FASD in South Africa needs to be assessed and considered for clinical management. Future research is necessary to examine problems of incontinence in relation to cognitive and behavioral functioning among children with a FASD, as well as identifying possible causes. [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]