21 results on '"Marais, Anna-Susan"'
Search Results
2. The influence of maternal weight and alcohol exposure on infant physical characteristics and neurodevelopmental outcomes
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Hasken, Julie M., Adair, Linda S., Martin, Stephanie L., Thompson, Amanda L., Marais, Anna-Susan, de Vries, Marlene M., Kalberg, Wendy O., Buckley, David, Eugene Hoyme, H., Seedat, Soraya, Parry, Charles D.H., and May, Philip A.
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- 2022
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3. The prevalence, child characteristics, and maternal risk factors for the continuum of fetal alcohol spectrum disorders: A sixth population-based study in the same South African community
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May, Philip A., Marais, Anna-Susan, De Vries, Marlene M., Buckley, David, Kalberg, Wendy O., Hasken, Julie M., Stegall, Julie M., Hedrick, Dixie M., Robinson, Luther K., Manning, Melanie A., Tabachnick, Barbara G., Seedat, Soraya, Parry, Charles D.H., and Hoyme, H. Eugene
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- 2021
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4. Who is most affected by prenatal alcohol exposure: Boys or girls?
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May, Philip A., Tabachnick, Barbara, Hasken, Julie M., Marais, Anna-Susan, de Vries, Marlene M., Barnard, Ronel, Joubert, Belinda, Cloete, Marise, Botha, Isobel, Kalberg, Wendy O., Buckley, David, Burroughs, Zachary R., Bezuidenhout, Heidre, Robinson, Luther K., Manning, Melanie A., Adnams, Colleen M., Seedat, Soraya, Parry, Charles D.H., and Hoyme, H. Eugene
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- 2017
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5. The continuum of fetal alcohol spectrum disorders in a community in South Africa: Prevalence and characteristics in a fifth sample
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May, Philip A., Marais, Anna-Susan, de Vries, Marlene M., Kalberg, Wendy O., Buckley, David, Hasken, Julie M., Adnams, Colleen M., Barnard, Ronel, Joubert, Belinda, Cloete, Marise, Tabachnick, Barbara, Robinson, Luther K., Manning, Melanie A., Jones, Kenneth Lyons, Bezuidenhout, Heidre, Seedat, Soraya, Parry, Charles D.H., and Hoyme, H. Eugene
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- 2016
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6. F53. SPECIES-LEVEL PROFILING OF THE MATERNAL VAGINAL BACTERIOME USING FULL-LENGTH 16S RRNA SEQUENCING WITH APPLICATION TO FETAL ALCOHOL SPECTRUM DISORDERS (FASD)
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Martin, Lauren, Kitchin, Natasha, Marais, Anna-Susan, de Vries, Marlene M., May, Phillip A., Seedat, Soraya, and Hemmings, Sian
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- 2023
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7. TH90. SPECIES-LEVEL PROFILING OF THE MATERNAL VAGINAL BACTERIOME USING FULL-LENGTH 16S RRNA AMPLICON SEQUENCING WITH APPLICATION TO FOETAL ALCOHOL SPECTRUM DISORDERS
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Martin, Lauren, Kitchin, Natasha, Marais, Anna-Susan, de Vries, Marlene M., May, Phillip A., Seedat, Soraya, and Hemmings, Sian
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- 2021
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8. TU19. THE GUT MICROBIOTA'S INFLUENCE IN THE DEVELOPMENT OF FOETAL ALCOHOL SPECTRUM DISORDERS
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Kitchin, Natasha, Womersley, Jacqueline, Engelbrecht, Andrea, Marais, Anna-Susan, de Vries, Marlene M., May, Phillip A., Seedat, Soraya, and Hemmings, Sian
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- 2021
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9. S22THE EFFECT OF ALCOHOL ON THE GUT MICROBIOME OF PREGNANT WOMEN
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Kitchin, Natasha, Malan-Muller, Stefanie, Womersley, Jacqueline S., Parker, Michelle, Marais, Anna-Susan, de Vries, Marlene M., May, Phillip A., Seedat, Soraya, and Hemmings, Sian
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- 2019
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10. Relationship-based intervention for children who were prenatally alcohol exposed in South Africa.
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Kalberg, Wendy O., Marais, Anna-Susan, De Vries, Marlene M., Laurel, Marci, Taylor, Kathleen, Hasken, Julie M., Tabachnick, Barbara G., Buckley, David, Ortega, Marian A., Seedat, Soraya, and May, Philip A.
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ALCOHOLISM , *CONFIDENCE intervals , *CAREGIVERS , *ALCOHOL drinking - Abstract
This early intervention study investigated the effectiveness of a relationship-based, developmental enhancement process for children who were prenatally exposed to alcohol in the South African context. Methods: Groups were created according to the child's level of risk for alcohol-related developmental issues based on each mother's alcohol use during pregnancy as assessed using the Alcohol Use Disorders Identification Test (AUDIT). Primary caregiver/child dyads were the focus of the intervention and child development was monitored by the Ages and Stages Questionnaire (ASQ). Eighteen caregiver/child dyads were in the heavily alcohol-exposed group, and 20 caregiver/child dyads were in the no or light alcohol-exposure group. The Home Observation Measurement of the Environment (HOME) was measured pre and post intervention. Results: The results indicated significant improvements in the home environment (p <.001) post-intervention for the entire cohort. For the total HOME score, there was a statistically significant main effect for time (pre- vs post-test), F (1, 36)= 65.205, p <.001, partial η2 =.64. with 99% confidence limits from.35 to.78. The offspring and parents from both the heavy alcohol exposure group and the no/low alcohol exposure group benefitted from the intervention over the duration of the intervention. Of the HOME domains affected, responsivity was the most improved in the households. The children's scores on the ASQ varied substantially over the months of the intervention, and the offspring of the heavy exposure group often performed significantly worse than the no/low exposure group. Nevertheless, further analysis revealed that children with the lowest performance at baseline improved their performance on most ASQ domains throughout the intervention and performed significantly better on all ASQ domains over time and at completion of the intervention. Conclusions: This relationship-based, early intervention program for children resulted in benefits to all of the children over time. • Heart Start Model improves development in young children with PAE and FASD. • Early intervention in an impoverished group improves development of most children. • Reciprocal relationships is the domain most improved in this Heart Start trial. [ABSTRACT FROM AUTHOR]
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- 2023
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11. Contribution of ferritin and zinc to adverse infant outcomes among pregnancies with prenatal alcohol exposure in South Africa.
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Hasken, Julie M., de Vries, Marlene M., Marais, Anna-Susan, and May, Philip A.
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PRENATAL alcohol exposure , *FERRITIN , *PREGNANCY outcomes , *IRON in the body , *INFANTS , *ZINC - Abstract
Nutritional status during pregnancy can impact fetal development, yet less is known about how alcohol may interact with nutritional status to influence infant outcomes. Pregnant women (n =196) completed 2, 24-hour dietary recalls and provided a venous blood sample to be analyzed for liver enzymes (GGT –gamma-glutamyl transferase; ALT –alanine transaminase; and AST –aspartate transferase), iron, ferritin, and zinc concentrations. Infants were assessed at 6 weeks of age. Women who consumed alcohol had significantly higher ferritin levels compared to non-drinkers (51.8 vs. 34.2). While 44% of women had ferritin <30 ug/L (an indicator of iron deficiency), and 24% of women were low in serum iron, and 72% were low in serum zinc. All six drinking measures for 1st trimester and previous week were significantly correlated with GGT and AST levels while 4 out of 6 alcohol measures were associated with levels of ALT and ferritin. At six weeks of age, nearly all physical measures differentiated infants with alcohol exposure from infants without exposure. Controlling for six covariates, maternal ferritin was significantly and inversely associated with infant head circumference (OFC) centile among infants with alcohol exposure. GGT was inversely associated with infant height and weight centile among unexposed infants. Seventy-four percent (74%) of mothers who consumed alcohol were found to be low in serum zinc, yet higher maternal zinc was associated with more dysmorphology. This may indicate that higher zinc status is not protecting the fetus from the teratogenic effects of alcohol. Prenatal alcohol exposure, ferritin, and zinc status influence infant growth and neurodevelopment. • GGT and ferritin were correlated with alcohol consumption. • Measurements at 6-weeks old differed in infants with and without alcohol exposure. • Maternal ferritin level was inversely associated with infant OFC centile. • High maternal GGT and low ferritin and zinc may help identify at-risk infants. [ABSTRACT FROM AUTHOR]
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- 2024
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12. Maternal dietary intake among alcohol-exposed pregnancies is linked to early infant physical outcomes in South Africa.
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Hasken, Julie M., de Vries, Marlene M., Marais, Anna-Susan, Kalberg, Wendy O., Buckley, David, Parry, Charles D.H., Seedat, Soraya, and May, Philip A.
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FOOD consumption , *NUTRITIONAL requirements , *PRENATAL alcohol exposure , *MONOUNSATURATED fatty acids , *FETAL alcohol syndrome , *FOLIC acid , *VITAMIN A - Abstract
Maternal dietary intake is likely a contributing factor to fetal alcohol spectrum disorders (FASD). Two, 24-hour dietary recalls were completed by pregnant women (n = 196) in South African communities with high rates of FASD. More than 50% of all women in this study were below the Estimated Average Requirement (EAR) for pregnancy for vitamins A, C, D, E, riboflavin, vitamin B6, folate, calcium, magnesium, iron, and zinc. More than 90% of mothers were below the Recommended Dietary Allowance (RDA) or Adequate Intake (AI) for pregnancy on vitamin A, K, D, E, choline, calcium, magnesium, zinc, and potassium. More than 80% were below RDA/AI for pantothenic acid, vitamin B6, and folate. Women who consumed alcohol reported significantly lower intake of calcium and three saturated fatty acids and significantly higher intake of two monounsaturated fatty acids. On average, infants were < 40th centile on length, weight, and head circumference at 6 weeks old, regardless of alcohol exposure. Twenty nutrients correlated with at least one measure of 1st trimester drinking (drinks per drinking day, number of drinking days per week, and/or total drinks per week). Nutrients included four saturated fatty acids, eight amino acids, calcium, B-complex vitamins, choline, and betaine. Calcium correlated with all three drinking measures. Further analyses revealed seven nutrients were associated with infant length, weight, and/or head circumference among unexposed infants, and 12 nutrients were associated among infants with prenatal alcohol exposure. Inadequate maternal dietary intake, with alcohol exposure, may increase risk for poor infant growth and likelihood of FASD in this population. • Majority of pregnant women were likely deficient on many micronutrients. • Amino acid intake was low/marginal for a proportion of all women. • Calcium and select fatty acids intakes differentiated women who drank and abstainers. • Maternal dietary intake factors were associated with 6-week infant growth. [ABSTRACT FROM AUTHOR]
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- 2023
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13. The continuum of fetal alcohol spectrum disorders in four rural communities in South Africa: Prevalence and characteristics.
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May, Philip A., de Vries, Marlene M., Marais, Anna-Susan, Kalberg, Wendy O., Adnams, Colleen M., Hasken, Julie M., Tabachnick, Barbara, Robinson, Luther K., Manning, Melanie A., Jones, Kenneth Lyons, Hoyme, Derek, Seedat, Soraya, Parry, Charles D.H., and Hoyme, H. Eugene
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FETAL alcohol syndrome , *DISEASE prevalence , *SOCIAL status , *BODY dysmorphic disorder , *CHILD development , *ALCOHOL drinking , *PSYCHOLOGY of mothers , *RESEARCH funding , *RURAL population , *DIAGNOSIS - Abstract
Background: Prevalence and characteristics of the continuum of diagnoses within fetal alcohol spectrum disorders (FASD) were researched in previously unstudied rural, agricultural, lower socioeconomic populations in South Africa (ZA).Methods: Using an active case ascertainment approach among first grade learners, 1354 (72.6%) were consented into the study via: height, weight, and/or head circumference ≤ 25th centile and/or random selection as normal control candidates. Final diagnoses were made following: examination by pediatric dysmorphologists/geneticists, cognitive/behavioral testing, and maternal risk factor interviews.Results: FASD children were significantly growth deficient and dysmorphic: physical measurements, cardinal facial features of FAS, and total dysmorphology scores clearly differentiated diagnostic categories from severe to mild to normal in a consistent, linear fashion. Neurodevelopmental delays were also significantly worse for each of the FASD diagnostic categories, although not as consistently linear across groups. Alcohol use is well documented as the proximal maternal risk factor for each diagnostic group. Significant distal maternal risk factors in this population are: low body weight, body mass, education, and income; and high gravidity, parity, and age at birth of the index child. In this low SES, highly rural region, FAS occurs in 93-128 per 1000 children, PFAS in 58-86, and, ARND in 32-46 per 1000. Total FASD affect 182-259 per 1000 children or 18-26%.Conclusions: Very high rates of FASD exist in these rural areas and isolated towns where entrenched practices of regular binge drinking co-exist with challenging conditions for childbearing and child development. [ABSTRACT FROM AUTHOR]- Published
- 2016
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14. Maternal alcohol consumption producing fetal alcohol spectrum disorders (FASD): Quantity, frequency, and timing of drinking.
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May, Philip A., Blankenship, Jason, Marais, Anna-Susan, Gossage, J. Phillip, Kalberg, Wendy O., Joubert, Belinda, Cloete, Marise, Barnard, Ronel, De Vries, Marlene, Hasken, Julie, Robinson, Luther K., Adnams, Colleen M., Buckley, David, Manning, Melanie, Parry, Charles D.H., Hoyme, H. Eugene, Tabachnick, Barbara, and Seedat, Soraya
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FETAL alcohol syndrome , *ALCOHOL drinking , *MOTHER-child relationship , *DRINKING behavior , *HEALTH outcome assessment , *DIAGNOSIS ,COMPLICATIONS of alcoholism in pregnancy - Abstract
Abstract: Background: Concise, accurate measures of maternal prenatal alcohol use are needed to better understand fetal alcohol spectrum disorders (FASD). Methods: Measures of drinking by mothers of children with specific FASD diagnoses and mothers of randomly-selected controls are compared and also correlated with physical and cognitive/behavioral outcomes. Results: Measures of maternal alcohol use can differentiate maternal drinking associated with FASD from that of controls and some from mothers of alcohol-exposed normals. Six variables that combine quantity and frequency concepts distinguish mothers of FASD children from normal controls. Alcohol use variables, when applied to each trimester and three months prior to pregnancy, provide insight on critical timing of exposure as well. Measures of drinking, especially bingeing, correlate significantly with increased child dysmorphology and negative cognitive/behavioral outcomes in children, especially low non-verbal IQ, poor attention, and behavioral problems. Logistic regression links (p <.001) first trimester drinking (vs. no drinking) with FASD, elevating FASD likelihood 12 times; first and second trimester drinking increases FASD outcomes 61 times; and drinking in all trimesters 65 times. Conversely, a similar regression (p =.008) indicates that drinking only in the first trimester makes the birth of a child with an FASD 5 times less likely than drinking in all trimesters. Conclusions: There is significant variation in alcohol consumption both within and between diagnostic groupings of mothers bearing children diagnosed within the FASD continuum. Drinking measures are empirically identified and correlated with specific child outcomes. Alcohol use, especially heavy use, should be avoided throughout pregnancy. [Copyright &y& Elsevier]
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- 2013
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15. The epidemiology of fetal alcohol syndrome and partial FAS in a South African community
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May, Philip A., Gossage, J. Phillip, Marais, Anna-Susan, Adnams, Colleen M., Hoyme, H. Eugene, Jones, Kenneth L., Robinson, Luther K., Khaole, Nathaniel C.O., Snell, Cudore, Kalberg, Wendy O., Hendricks, Loretta, Brooke, Lesley, Stellavato, Chandra, and Viljoen, Denis L.
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FETAL alcohol syndrome , *EPIDEMIOLOGY , *PUBLIC health - Abstract
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]
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- 2007
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16. A utilitarian comparison of two alcohol use biomarkers with self-reported drinking history collected in antenatal clinics.
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May, Philip A., Hasken, Julie M., De Vries, Marlene M., Marais, Anna-Susan, Stegall, Julie M., Marsden, Daniel, Parry, Charles D.H., Seedat, Soraya, and Tabachnick, Barbara
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ALCOHOLISM , *PRENATAL care , *SELF-evaluation , *ETHYL glucuronide , *BIOMARKERS , *COMPARATIVE studies - Abstract
Background Alcohol use is reported accurately among pregnant women in some populations. Methods Self-reported alcohol use via the AUDIT and 90-day recall for 193 women from antenatal clinics was compared to biomarker results: phosphatidylethanol (PEth) from bloodspots and ethyl glucuronide (EtG) in fingernails. Results AUDIT was positive for 67.9% of respondents, and 65.3% directly reported drinking. Individual biomarkers detected less drinking (PEth = 57.0%, EtG = 38.9%) than self-report. But 64.8% had drinking-positive values (>8 ng) on one or both biomarkers, which was not significantly different from self-report. Biomarkers indicated that 3.1% −6.8% of drinkers denied drinking. Combined biomarker sensitivity was 95% −80% and specificity 49% −76% for drinking in the previous 7–90 days. Combined biomarker results have their best yield (89.6%) and accuracy (78.8%) when measuring 90 day drinking. Conclusions Women reported their alcohol use accurately, and the combined use of PEth and EtG is supported. [ABSTRACT FROM AUTHOR]
- Published
- 2018
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17. Breastfeeding and maternal alcohol use: Prevalence and effects on child outcomes and fetal alcohol spectrum disorders.
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May, Philip A., Hasken, Julie M., Blankenship, Jason, Marais, Anna-Susan, Joubert, Belinda, Cloete, Marise, de Vries, Marlene M., Barnard, Ronel, Botha, Isobel, Roux, Sumien, Doms, Cate, Gossage, J. Phillip, Kalberg, Wendy O., Buckley, David, Robinson, Luther K., Adnams, Colleen M., Manning, Melanie A., Parry, Charles D.H., Hoyme, H.Eugene, and Tabachnick, Barbara
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BREASTFEEDING , *WOMEN , *DISEASE prevalence , *ALCOHOL drinking , *CHILD development - Abstract
Objective Determine any effects that maternal alcohol consumption during the breastfeeding period has on child outcomes. Methods Population-based samples of children with fetal alcohol spectrum disorders (FASD), normally-developing children, and their mothers were analyzed for differences in child outcomes. Results Ninety percent (90%) of mothers breastfed for an average of 19.9 months. Of mothers who drank postpartum and breastfed (MDPB), 47% breastfed for 12 months or more. In case control analyses, children of MDPB were significantly lighter, had lower verbal IQ scores, and more anomalies in comparisons controlling for prenatal alcohol exposure and final FASD diagnosis. Utilizing a stepwise logistic regression model adjusting for nine confounders of prenatal drinking and other maternal risks, MDPB were 6.4 times more likely to have a child with FASD than breastfeeding mothers who abstained from alcohol while breastfeeding. Conclusions Alcohol use during the period of breastfeeding was found to significantly compromise a child’s development. [ABSTRACT FROM AUTHOR]
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- 2016
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18. Maternal nutritional status as a contributing factor for the risk of fetal alcohol spectrum disorders.
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May, Philip A., Hamrick, Kari J., Corbin, Karen D., Hasken, Julie M., Marais, Anna-Susan, Blankenship, Jason, Hoyme, H. Eugene, and Gossage, J. Phillip
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MATERNAL nutrition , *FETAL alcohol syndrome , *ALCOHOL use in pregnancy , *BODY mass index , *NUTRITIONAL requirements , *DISEASE risk factors - Abstract
Objective Compare nutritional status of 57 South African mothers of children with fetal alcohol spectrum disorders (FASD) with 148 mothers of controls. Methods Dietary data were analyzed for macronutrients, micronutrients, and fats via estimated average requirements (EAR) and adequate intakes (AI) for pregnant women. Results Virtually all mothers were likely deficient on most micronutrients by either EAR (<50%) or AI values. Mothers of FASD children consumed more of 13 of 25 micronutrients. For percentage below EAR, only vitamin D was significantly higher for FASD mothers. Despite no difference in total food intake, control mothers had a higher mean body mass index (BMI) than FASD mothers. Maternal BMI is more significant for positive child outcomes than any individual nutrient. Conclusions Most mothers have inadequate dietary intake. Minor advantages in nutrient intake are overpowered by teratogenic effects of alcohol. Further study is needed of the interaction of alcohol, maternal nutrition, and metabolism. [ABSTRACT FROM AUTHOR]
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- 2016
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19. Dietary intake, nutrition, and fetal alcohol spectrum disorders in the Western Cape Province of South Africa.
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May, Philip A., Hamrick, Kari J., Corbin, Karen D., Hasken, Julie M., Marais, Anna-Susan, Brooke, Lesley E., Blankenship, Jason, Hoyme, H. Eugene, and Gossage, J. Phillip
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FOOD consumption , *FETAL alcohol syndrome , *NUTRITIONAL assessment , *MOTHER-child relationship , *VITAMIN B2 , *HEALTH , *DISEASE risk factors - Abstract
Highlights: [•] Dietary intake of women in South Africa is compared to recommended intakes for specific nutrients. [•] For most nutrients, all mothers were significantly below Dietary Reference Intakes. [•] Mothers of FASD children had significantly lower intakes of calcium, DPA, riboflavin, and choline than controls. [•] Lower nutrient intake correlates with binge drinking. [•] Nutritional inadequacies with prenatal alcohol exposure increase the risk for FASD. [Copyright &y& Elsevier]
- Published
- 2014
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20. Maternal risk factors predicting child physical characteristics and dysmorphology in fetal alcohol syndrome and partial fetal alcohol syndrome
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May, Philip A., Tabachnick, Barbara G., Gossage, J. Phillip, Kalberg, Wendy O., Marais, Anna-Susan, Robinson, Luther K., Manning, Melanie, Buckley, David, and Hoyme, H. Eugene
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FETAL alcohol syndrome , *PEDIATRIC physiology , *ALCOHOL use in pregnancy , *STRUCTURAL equation modeling , *REGRESSION analysis - Abstract
Abstract: Background: Previous research in South Africa revealed very high rates of fetal alcohol syndrome (FAS), of 46–89 per 1000 among young children. Maternal and child data from studies in this community summarize the multiple predictors of FAS and partial fetal alcohol syndrome (PFAS). Method: Sequential regression was employed to examine influences on child physical characteristics and dysmorphology from four categories of maternal traits: physical, demographic, childbearing, and drinking. Then, a structural equation model (SEM) was constructed to predict influences on child physical characteristics. Results: Individual sequential regressions revealed that maternal drinking measures were the most powerful predictors of a child''s physical anomalies (R 2 =.30, p <.001), followed by maternal demographics (R 2 =.24, p <.001), maternal physical characteristics (R 2 =.15, p <.001), and childbearing variables (R 2 =.06, p <.001). The SEM utilized both individual variables and the four composite categories of maternal traits to predict a set of child physical characteristics, including a total dysmorphology score. As predicted, drinking behavior is a relatively strong predictor of child physical characteristics (β =0.61, p <.001), even when all other maternal risk variables are included; higher levels of drinking predict child physical anomalies. Conclusions: Overall, the SEM model explains 62% of the variance in child physical anomalies. As expected, drinking variables explain the most variance. But this highly controlled estimation of multiple effects also reveals a significant contribution played by maternal demographics and, to a lesser degree, maternal physical and childbearing variables. [Copyright &y& Elsevier]
- Published
- 2011
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21. Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals
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Ramsay, Michèle, Greenberg, Tarryn, Lombard, Zane, Labrum, Robyn, Lubbe, Steven, Aron, Shaun, Marais, Anna-Susan, Terry, Sharon, Bercovitch, Lionel, and Viljoen, Denis
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METABOLIC disorders , *BLOOD circulation , *CARDIOVASCULAR system , *HEALTH counseling - Abstract
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]
- Published
- 2009
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