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1.
Radiol Case Rep ; 19(11): 4875-4879, 2024 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-39228929

RESUMO

We report a rare 16-year-old male case of Klippel-Feil anomaly associated with fetal alcohol syndrome exhibiting complex congenital vascular anomalies. The congenital vascular anomalies observed were the absence of a left internal carotid artery, a left vertebral artery arising from the subclavian artery in a very high cervical location and a bovine arch. The vascular and vertebral anomalies were evaluated using CT and MRI before cervical surgery.

2.
Afr J Disabil ; 13: 1386, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39229348

RESUMO

Background: Even though adults with foetal alcohol spectrum disorder (FASD) are at risk of negative life outcomes, there is no published evidence of this in South Africa, which has the highest estimated FASD prevalence rate globally. Objectives: The purpose of the study was to describe and compare the life outcomes of adults with FASD and adults without FASD in a South African rural community, 16 years after diagnosis. Method: Participants were examined and interviewed regarding their biographical information, knowledge of FASD, information on their family, relationships, home circumstances, education, work and medical history. Results: Adults with FASD were less likely to be in a relationship and more likely to have poor educational outcomes and to be exposed to violence as victim or perpetrator than their peers who did not have FASD. None of the participants with FASD completed secondary school successfully. No differences were found for independent living, employment, health, substance use and legal outcomes, between the foetal alcohol syndrome (FAS) or partial foetal alcohol syndrome (PFAS) and control group. Conclusion: While significant differences existed in certain aspects, differences are not as stark as one would expect between individuals with FASD and controls. Contribution: This study highlights the importance of considering the social context in which a FASD diagnosis is made. The comparative negative impact of an FASD diagnosis and the associated challenges on life outcomes may be less pronounced in rural communities where everyone has fewer opportunities and resources. This can also make the unique needs of persons with disabilities less visible.

3.
Gene ; 931: 148854, 2024 Dec 30.
Artigo em Inglês | MEDLINE | ID: mdl-39147113

RESUMO

Ancestrally admixed populations are underrepresented in genetic studies of complex diseases, which are still dominated by European-descent populations. This is relevant not only from a representation standpoint but also because of admixed populations' unique features, including being enriched for rare variants, for which effect sizes are disproportionately larger than common polymorphisms. Furthermore, results from these populations may be generalizable to other populations. The South African Cape Coloured (SACC) population is genetically admixed and has one of the highest prevalences of fetal alcohol spectrum disorders (FASD) worldwide. We profiled its admixture and examined associations between ancestry profiles and FASD outcomes using two longitudinal birth cohorts (N=308 mothers, 280 children) designed to examine effects of prenatal alcohol exposure on development. Participants were genotyped via MEGAex array to capture common and rare variants. Rare variants were overrepresented in our SACC cohorts, with numerous polymorphisms being monomorphic in other reference populations (e.g., ∼30,000 and âˆ¼ 221,000 variants in gnomAD European and Asian populations, respectively). The cohorts showed global African (51 %; Bantu and San); European (26 %; Northern/Western); South Asian (18 %); and East Asian (5 %; largely Southern regions) ancestries. The cohorts exhibited high rates of homozygosity (6 %), with regions of homozygosity harboring more deleterious variants when lying within African local-ancestry genomic segments. Both maternal and child ancestry profiles were associated with higher FASD risk, and maternal and child ancestry-by-prenatal alcohol exposure interaction effects were seen on child cognition. Our findings indicate that the SACC population may be a valuable asset to identify novel disease-associated genetic loci for FASD and other diseases.


Assuntos
Transtornos do Espectro Alcoólico Fetal , Humanos , Transtornos do Espectro Alcoólico Fetal/genética , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Feminino , África do Sul/epidemiologia , Masculino , Gravidez , População Negra/genética , Adulto , Criança , Polimorfismo de Nucleotídeo Único , Predisposição Genética para Doença , População Branca/genética
4.
Disabil Health J ; : 101684, 2024 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-39153944

RESUMO

BACKGROUND: The literature indicates that youth with Fetal Alcohol Syndrome (FAS) may experience high rates of both physical and mental health issues compared to youth without FAS. However, there is little population level health data available for youth with FAS, particularly for youth transitioning from pediatric to adult healthcare services. OBJECTIVE: The objective of this study was to compare health care usage of youth with Fetal Alcohol Syndrome to youth without any intellectual/developmental disabilities (IDD). METHODS: This study used a retrospective cohort design and population-level administrative health data to examine five aspects of health care usage by youth with FAS and compare them to youth with no intellectual/developmental disability. The variables were medically required dental care, visits to emergency departments and visits for mental health issues. In addition, the study stratified data by age groups and examined the difference between youth aged 15-19 and youth aged 20-24. RESULTS: Youth with FAS had higher adjusted odds of medically required dental care, visits to the emergency department and visits for anxiety/depression, psychotic illnesses and substance use disorders compared to youth with no IDD. The odds of a medically required dental visit, emergency department visit and visit for psychotic illness or substance use disorder were also higher for youth aged 20-24 years compared to youth aged 15-19 years. CONCLUSIONS: These findings indicate that youth with FAS require urgent attention for each of the medically-related variables included in this study. The need for attention to their health care needs may increase as these youth transition from pediatric to adult health care services.

5.
Cureus ; 16(7): e65611, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39205751

RESUMO

We report a case of a 34-year-old man with fetal alcohol syndrome (FAS) presenting with dyspnea, cough, and hoarse voice. The patient was found to have severe pulmonary hypertension secondary to a large atrial septal defect (ASD). In this article, we discuss the challenges patients with FAS and other patients with cognitive impairments face that could explain the first diagnosis of such a large cardiac birth defect being made in the patient's adulthood. Moreover, severe pulmonary hypertension due to ASD also presents a therapeutic dilemma, as shunt closure can lead to a worsening of the condition.

6.
Alcohol Clin Exp Res (Hoboken) ; 48(8): 1443-1450, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39031634

RESUMO

The prevalence of fetal alcohol spectrum disorder (FASD) has been reported to be disproportionately high among children in foster care compared with the general population. However, updated prevalence estimates of infants and children with FASD in foster care or the prevalence of placement of children with FASD in foster care make this unclear. This study examines two questions. Firstly, what is the prevalence of FASD among infants and children in foster care? Secondly, what is the likelihood of placement in foster care for infants and children with FASD? This review was designed using PRISMA-SCR and JBI scoping review guidelines. Three databases were searched for the period June 2012 to June 2023: PubMed, Cumulative Index to Nursing and Allied Health Literature (CINAHL), and Google Scholar for all countries. Overall prevalence estimates were calculated using a complementary log-log link model along with 95% confidence intervals. Firstly, the estimated prevalence of FASD among infants and children in foster care was 18.8%. Secondly, among children diagnosed with FASD 30.5% are placed into foster care, reflecting greatly increased risk of placement of infants and children with FASD in foster care. We conclude that routine screening for FASD is needed to improve the identification of infants and children with FASD. Increased attention is also needed on developing strategies for FASD prevention. Recognition that nearly one of every three children with FASD will enter foster care demonstrates the need for increased funding, enhanced training and greater availability of services for families and children impacted by FASD.

7.
BMC Genomics ; 25(1): 610, 2024 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-38886650

RESUMO

Understanding the mechanisms underlying alcohol metabolism and its regulation, including the effect of polymorphisms in alcohol-metabolizing enzymes, is crucial for research on Fetal Alcohol Spectrum Disorders. The aim of this study was to identify specific single nucleotide polymorphisms in key alcohol-metabolizing enzymes in a cohort of 71 children, including children with fetal alcohol syndrome, children prenatally exposed to ethanol but without fetal alcohol spectrum disorder, and controls. We hypothesized that certain genetic variants related to alcohol metabolism may be fixed in these populations, giving them a particular alcohol metabolism profile. In addition, the difference in certain isoforms of these enzymes determines their affinity for alcohol, which also affects the metabolism of retinoic acid, which is key to the proper development of the central nervous system. Our results showed that children prenatally exposed to ethanol without fetal alcohol spectrum disorder traits had a higher frequency of the ADH1B*3 and ADH1C*1 alleles, which are associated with increased alcohol metabolism and therefore a protective factor against circulating alcohol in the fetus after maternal drinking, compared to FAS children who had an allele with a lower affinity for alcohol. This study also revealed the presence of an ADH4 variant in the FAS population that binds weakly to the teratogen, allowing increased circulation of the toxic agent and direct induction of developmental abnormalities in the fetus. However, both groups showed dysregulation in the expression of genes related to the retinoic acid pathway, such as retinoic acid receptor and retinoid X receptor, which are involved in the development, regeneration, and maintenance of the nervous system. These findings highlight the importance of understanding the interplay between alcohol metabolism, the retinoic acid pathway and genetic factors in the development of fetal alcohol syndrome.


Assuntos
Álcool Desidrogenase , Transtornos do Espectro Alcoólico Fetal , Polimorfismo de Nucleotídeo Único , Receptores do Ácido Retinoico , Humanos , Transtornos do Espectro Alcoólico Fetal/genética , Transtornos do Espectro Alcoólico Fetal/metabolismo , Estudos de Casos e Controles , Feminino , Álcool Desidrogenase/genética , Álcool Desidrogenase/metabolismo , Masculino , Receptores do Ácido Retinoico/genética , Receptores do Ácido Retinoico/metabolismo , Criança , Etanol/metabolismo , Gravidez , Pré-Escolar , Alelos
8.
Biol Res ; 57(1): 41, 2024 Jun 22.
Artigo em Inglês | MEDLINE | ID: mdl-38907274

RESUMO

BACKGROUND: Prenatal alcohol exposure (PAE) has serious physical consequences for children such as behavioral disabilities, growth disorders, neuromuscular problems, impaired motor coordination, and decreased muscle tone. However, it is not known whether loss of muscle strength occurs, and which interventions will effectively mitigate physical PAE impairments. We aimed to investigate whether physical alteration persists during adolescence and whether exercise is an effective intervention. RESULTS: Using paradigms to evaluate different physical qualities, we described that early adolescent PAE animals have significant alterations in agility and strength, without alterations in balance and coordination compared to CTRL animals. We evaluated the effectiveness of 3 different exercise protocols for 4 weeks: Enrichment environment (EE), Endurance exercise (EEX), and Resistance exercise (REX). The enriched environment significantly improved the strength in the PAE group but not in the CTRL group whose strength parameters were maintained even during exercise. Resistance exercise showed the greatest benefits in gaining strength, and endurance exercise did not. CONCLUSION: PAE induced a significant decrease in strength compared to CTRL in PND21. Resistance exercise is the most effective to reverse the effects of PAE on muscular strength. Our data suggests that individualized, scheduled, and supervised training of resistance is more beneficial than endurance or enriched environment exercise for adolescents FASD.


Assuntos
Modelos Animais de Doenças , Transtornos do Espectro Alcoólico Fetal , Força Muscular , Condicionamento Físico Animal , Transtornos do Espectro Alcoólico Fetal/fisiopatologia , Transtornos do Espectro Alcoólico Fetal/prevenção & controle , Animais , Condicionamento Físico Animal/fisiologia , Feminino , Força Muscular/fisiologia , Gravidez , Masculino , Ratos , Efeitos Tardios da Exposição Pré-Natal , Ratos Wistar
9.
Int J Mol Sci ; 25(11)2024 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-38892014

RESUMO

Fetal alcohol spectrum disorders (FASDs) are leading causes of neurodevelopmental disability but cannot be diagnosed early in utero. Because several microRNAs (miRNAs) are implicated in other neurological and neurodevelopmental disorders, the effects of EtOH exposure on the expression of these miRNAs and their target genes and pathways were assessed. In women who drank alcohol (EtOH) during pregnancy and non-drinking controls, matched individually for fetal sex and gestational age, the levels of miRNAs in fetal brain-derived exosomes (FB-Es) isolated from the mothers' serum correlated well with the contents of the corresponding fetal brain tissues obtained after voluntary pregnancy termination. In six EtOH-exposed cases and six matched controls, the levels of fetal brain and maternal serum miRNAs were quantified on the array by qRT-PCR. In FB-Es from 10 EtOH-exposed cases and 10 controls, selected miRNAs were quantified by ddPCR. Protein levels were quantified by ELISA. There were significant EtOH-associated reductions in the expression of several miRNAs, including miR-9 and its downstream neuronal targets BDNF, REST, Synapsin, and Sonic hedgehog. In 20 paired cases, reductions in FB-E miR-9 levels correlated strongly with reductions in fetal eye diameter, a prominent feature of FASDs. Thus, FB-E miR-9 levels might serve as a biomarker to predict FASDs in at-risk fetuses.


Assuntos
Biomarcadores , Encéfalo , Exossomos , Transtornos do Espectro Alcoólico Fetal , MicroRNAs , Humanos , Transtornos do Espectro Alcoólico Fetal/diagnóstico , Transtornos do Espectro Alcoólico Fetal/sangue , Transtornos do Espectro Alcoólico Fetal/genética , Transtornos do Espectro Alcoólico Fetal/metabolismo , Feminino , Exossomos/metabolismo , Exossomos/genética , Gravidez , Biomarcadores/sangue , MicroRNAs/sangue , MicroRNAs/genética , Encéfalo/metabolismo , Adulto , Feto/metabolismo , Estudos de Casos e Controles , Etanol/efeitos adversos , Masculino
10.
Nutrients ; 16(11)2024 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-38892588

RESUMO

Children and youths diagnosed with FASD may experience a range of adverse health and social outcomes. This cross-sectional study investigated the characteristics and outcomes of children and youths diagnosed with FASD between 2015 and 2018 at the Sunny Hill Centre in British Columbia, Canada and examined the relationships between prenatal substance exposures, FASD diagnostic categories, and adverse health and social outcomes. Patient chart data were obtained for 1187 children and youths diagnosed with FASD and analyzed. The patients (mean age: 9.7 years; range: 2-19) had up to 6 physical and 11 mental health disorders. Prenatal exposure to other substances (in addition to alcohol) significantly increased the severity of FASD diagnosis (OR: 1.18): the odds of FASD with sentinel facial features (SFF) were 41% higher with prenatal cigarette/nicotine/tobacco exposure; 75% higher with exposure to cocaine/crack; and two times higher with exposure to opioids. Maternal mental health issues and poor nutrition also increase the severity of FASD diagnosis (60% and 6%, respectively). Prenatal exposure to other substances in addition to alcohol significantly predicts involvement in the child welfare system (OR: 1.52) and current substance use when adjusted for age (aOR: 1.51). Diagnosis of FASD with SFF is associated with an increased number of physical (R2 = 0.071, F (3,1183) = 30.51, p = 0.000) and mental health comorbidities (R2 = 0.023, F (3,1185) = 9.51, p = 0.000) as compared to FASD without SFF adjusted for age and the number of prenatal substances. Screening of pregnant women for alcohol and other substance use, mental health status, and nutrition is extremely important.


Assuntos
Transtornos do Espectro Alcoólico Fetal , Efeitos Tardios da Exposição Pré-Natal , Humanos , Feminino , Gravidez , Transtornos do Espectro Alcoólico Fetal/psicologia , Transtornos do Espectro Alcoólico Fetal/diagnóstico , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Criança , Masculino , Adolescente , Estudos Transversais , Pré-Escolar , Adulto Jovem , Colúmbia Britânica/epidemiologia , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Transtornos Mentais/epidemiologia
11.
Front Public Health ; 12: 1399333, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38799689

RESUMO

Introduction: Alcohol consumption during pregnancy can lead to fetal alcohol spectrum disorders. This study developed and validated a questionnaire to assess university students' knowledge regarding the effects of alcohol during pregnancy. Methods: We designed an instrument with true-false-I do not know statements. Initially, 45 true statements were formulated and subjected to content validation by 19 experts. Based on the Content Validity Index (CVI), 17 items were selected. The instrument, called the Fetal Alcohol Consequences Test (FACT), was first assessed by 31 university students for the level of understanding. Then, the questionnaire was administered to a national Brazilian sample of university students, and an Exploratory Factor Analysis (EFA) was conducted. Each correct FACT answer was worth 1 point, and the knowledge was categorized as high (total score ≥ 80%), moderate (score between 60 and 79%), and low (score ≤ 59%). Results: When the questionnaire was being designed, the CVI values ranged from 0.779 to 1.0, and all statements were considered suitable by the target audience. For psychometric evaluation, 768 students from 24 Brazilian states participated. In the EFA, five statements were removed, revealing a tool with 12 items and two latent factors: "fetal alcohol spectrum disorders" and "conceptions and guidance on alcohol consumption during pregnancy." The KMO index (0.76426) and Bartlett's sphericity test (6362.6, df = 66, p < 0.00001) both supported the final EFA model. The goodness-of-fit indices for the factor structure were adequate: χ2 = 119.609, df = 43, p < 0.00001; RMSEA = 0.048; CFI = 0.977; TLI = 0.965. The mean total FACT score among participants was 7.71 ± 2.98, with a median of 8; 32.03% of the students had high (10-12 points), 24.09% moderate (8-9 points), and 43.88% low knowledge (<8 points). The questionnaire proved reliable, with a floor effect of 1.17%, a ceiling effect of 9.25%, and a Cronbach's alpha index of 0.798. Conclusion: The FACT can be utilized in university students' health education processes, contributing to greater knowledge and information dissemination about the effects of alcohol during pregnancy, in addition to the formulation of policies on the subject directed to this group of young adults.


Assuntos
Consumo de Bebidas Alcoólicas , Conhecimentos, Atitudes e Prática em Saúde , Psicometria , Estudantes , Humanos , Feminino , Inquéritos e Questionários , Estudantes/psicologia , Gravidez , Universidades , Brasil , Masculino , Adulto Jovem , Adulto , Transtornos do Espectro Alcoólico Fetal , Reprodutibilidade dos Testes , Adolescente
12.
Anat Cell Biol ; 2024 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-38817052

RESUMO

Intrauterine alcohol exposure delays bone maturation and intensifies osteoporosis and fracture risk. As most studies emphasize the neurological aspects of intrauterine alcohol exposure, there is a lack of research on the implications pertaining to osseous tissue. Previous studies investigated these effects in fetuses, with limited studies on postnatal life. Postnatal studies are crucial since peak bone growth occurs during adolescence. This study aimed at assessing the effects of prenatal alcohol exposure on the humerus proximal and distal growth plate chondrocytes in 3-week-old rats. Sprague Dawley rats (n=9) were assigned to either the ethanol group (n=3), saline (n=3), and untreated (n=3) group and time-mated. Once pregnant, as confirmed by the presence of a copulation plug, the former 2 groups were treated with 0.015 ml/g of 25.2% ethanol and 0.9% saline. The untreated group received no treatment. The left humeri belonging to 6 pups per group were used. Serial sections were cut with a microtome at 5 µm thickness. These sections were stained with haematoxylin and eosin for assessment of normal morphology or immunolabeled with anti-Ki-67 and transforming growth factor ß-1 (TGFß-1) antibody. Prenatal alcohol exposure adversely effected the growth plate sizes and the number of cells in the proliferative zone. Fewer TGFß-1 immunopositive and proliferative chondrocytes were found using the anti-Ki-67 antibody. This may explain the growth retardation in offspring exposed to gestational alcohol, showing that gestational alcohol exposure inhibits cell proliferation, aiding the diminished stature.

13.
Neurosci Biobehav Rev ; 161: 105651, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38579901

RESUMO

GABA is the primary inhibitory neurotransmitter in the adult brain and through its actions on GABAARs, it protects against excitotoxicity and seizure activity, ensures temporal fidelity of neurotransmission, and regulates concerted rhythmic activity of neuronal populations. In the developing brain, the development of GABAergic neurons precedes that of glutamatergic neurons and the GABA system serves as a guide and framework for the development of other brain systems. Despite this early start, the maturation of the GABA system also continues well into the early postnatal period. In this review, we organize evidence around two scenarios based on the essential and protracted nature of GABA system development: 1) disruptions in the development of the GABA system can lead to large scale disruptions in other developmental processes (i.e., GABA as the cause), 2) protracted maturation of this system makes it vulnerable to the effects of developmental insults (i.e., GABA as the effect). While ample evidence supports the importance of GABA/GABAAR system in both scenarios, large gaps in existing knowledge prevent strong mechanistic conclusions.


Assuntos
Encéfalo , Ácido gama-Aminobutírico , Ácido gama-Aminobutírico/metabolismo , Humanos , Animais , Encéfalo/crescimento & desenvolvimento , Encéfalo/metabolismo , Receptores de GABA-A/metabolismo , Neurônios GABAérgicos/fisiologia , Neurônios GABAérgicos/metabolismo
14.
J Neurodev Disord ; 16(1): 20, 2024 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-38643092

RESUMO

The adverse use of alcohol is a serious global public health problem. Maternal alcohol consumption during pregnancy usually causes prenatal alcohol exposure (PAE) in the developing fetus, leading to a spectrum of disorders known as fetal alcohol spectrum disorders (FASD) and even fetal alcohol syndrome (FAS) throughout the lifelong sufferers. The prevalence of FASD is approximately 7.7 per 1,000 worldwide, and is even higher in developed regions. Generally, Ethanol in alcoholic beverages can impair embryonic neurological development through multiple pathways leading to FASD. Among them, the leading mechanism of FASDs is attributed to ethanol-induced neuroinflammatory damage to the central nervous system (CNS). Although the underlying molecular mechanisms remain unclear, the remaining multiple pathological mechanisms is likely due to the neurotoxic damage of ethanol and the resultant neuronal loss. Regardless of the molecular pathway, the ultimate outcome of the developing CNS exposed to ethanol is almost always the destruction and apoptosis of neurons, which leads to the reduction of neurons and further the development of FASD. In this review, we systematically summarize the current research progress on the pathogenesis of FASD, which hopefully provides new insights into differential early diagnosis, treatment and prevention for patents with FASD.


Assuntos
Transtornos do Espectro Alcoólico Fetal , Efeitos Tardios da Exposição Pré-Natal , Humanos , Feminino , Gravidez , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Efeitos Tardios da Exposição Pré-Natal/metabolismo , Etanol/efeitos adversos , Consumo de Bebidas Alcoólicas/efeitos adversos , Neurônios/metabolismo
15.
Alcohol Clin Exp Res (Hoboken) ; 48(5): 867-879, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38548386

RESUMO

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.

16.
Alcohol Clin Exp Res (Hoboken) ; 48(4): 623-639, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38554140

RESUMO

BACKGROUND: Most studies of the effects of prenatal alcohol exposure (PAE) on cognitive function have assumed that the dose-response curve is linear. However, data from a few animal and human studies suggest that there may be an inflection point in the dose-response curve above which PAE effects are markedly stronger and that there may be differences associated with pattern of exposure, assessed in terms of alcohol dose per drinking occasion and drinking frequency. METHODS: We performed second-order confirmatory factor analysis on data obtained at school age, adolescence, and early adulthood from 2227 participants in six US longitudinal cohorts to derive a composite measure of cognitive function. Regression models were constructed to examine effects of PAE on cognitive function, adjusted for propensity scores. Analyses based on a single predictor (absolute alcohol (AA)/day) were compared with analyses based on two predictors (dose/occasion and drinking frequency), using (1) linear models and (2) nonparametric general additive models (GAM) that allow for both linear and nonlinear effects. RESULTS: The single-predictor GAM model showed virtually no nonlinearity in the effect of AA/day on cognitive function. However, the two-predictor GAM model revealed differential effects of maternal drinking pattern. Among offspring of infrequent drinkers, PAE effects on cognitive function were markedly stronger in those whose mothers drank more than ~3 drinks/occasion, and the effect of dose/occasion was strongest among the very frequent drinkers. Frequency of drinking did not appear to alter the PAE effect on cognitive function among participants born to mothers who limited their drinking to ~1 drink/occasion or less. CONCLUSIONS: These findings suggest that linear models based on total AA/day are appropriate for assessing whether PAE affects a given cognitive outcome. However, examination of alcohol dose/occasion and drinking frequency is needed to fully characterize the impact of different levels of alcohol intake on cognitive impairment.

17.
Alcohol ; 115: 33-39, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37633541

RESUMO

Ethanol exposure during pregnancy is an important problem and is the cause of fetal alcohol syndrome (FAS) and fetal alcohol spectrum disorder (FASD). The etiology of FAS and FASD can be elucidated using animal models. Recently, a novel model, the zebrafish (Danio rerio), has garnered the interest of researchers. This study confirmed the negative influence of ethyl alcohol (0.5 %, 1.5 %, and 2.5 % v/v) on the development of zebrafish embryos. The observed malformations included pericardial and yolk sac edema, increased body curvature, tail edema, and a decreased embryo hatching rate. The differences in body length, body width, and heart rate were statistically significant. Due to the similarities in the quantity and function of ethanol biotransformation enzymes between zebrafish and mammals, this study investigated the nonoxidative metabolites of ethanol - ethyl glucuronide (EtG) and ethyl sulfate (EtS) - in zebrafish following ethanol exposure. This research confirmed that EtG and EtS concentrations can be measured in zebrafish embryos, and the levels of these metabolites appear to be associated with the ethyl alcohol concentration in the medium.


Assuntos
Etanol , Transtornos do Espectro Alcoólico Fetal , Glucuronatos , Ésteres do Ácido Sulfúrico , Humanos , Feminino , Animais , Gravidez , Etanol/toxicidade , Etanol/metabolismo , Peixe-Zebra/metabolismo , Glucuronídeos , Edema , Mamíferos/metabolismo
18.
Child Care Health Dev ; 50(1): e13143, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-37317477

RESUMO

BACKGROUND: Inadequate coordination between relevant professionals hampers the provision of appropriate care for individuals with fetal alcohol spectrum disorder (FASD). Integrated, multidisciplinary care is thus urgently required. Hence, we aimed at establishing the first university-bound, interdisciplinary specialist centre for FASD in Germany, systematically collecting data on its utilisation and evaluation by attendees. METHODS: After our centre started to provide consultation and support services in July 2019 until May 2021, we collected 233 questionnaires on the centre's utilisation (including attendees' sociodemographic characteristics and the topics on which they requested consultation, e.g., general information about FASD, consultation on therapy options, and educational consultation). Ninety-four of 136 individuals who received consultation at our centre submitted an evaluation questionnaire that recorded attendees' satisfaction with the support they had received (e.g., the extent to which the consultation met their needs). RESULTS: Of 233 participants who completed the utilisation questionnaire, 81.8% were female, and 56.7% were aged 40 to 60 years. Moreover, 42% were foster parents, while 38% were professionals. Most attendees had questions on FASD in general as well as on a specific child or adolescent with FASD. Almost three quarters of the attendees requested consultation on adequate therapies for FASD patients, while 64% had questions on parenting issues. The overall quality of the consultation was rated very well. DISCUSSION: Our service was used by both caregivers and professionals who reported numerous and complex concerns and needs. Professionally sound and multidisciplinary services are viable instruments to meet those needs, bearing the potential for quick and notable relief among individuals affected. We propose further advancement of networking and coordination between care providers, the expansion of multidisciplinary services, and securing early diagnosis and consistency of care as relevant steps to even better support children and adolescents with FASD and their families in the future.


Assuntos
Transtornos do Espectro Alcoólico Fetal , Criança , Adolescente , Gravidez , Humanos , Feminino , Masculino , Transtornos do Espectro Alcoólico Fetal/diagnóstico , Pais , Cuidadores , Alemanha , Poder Familiar
19.
Alcohol Clin Exp Res (Hoboken) ; 48(2): 295-301, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38073003

RESUMO

BACKGROUND: Fetal alcohol syndrome (FAS) can have adverse effects on health outcomes throughout the life course. Adults with FAS have an increased risk of chronic and infectious diseases. Although these conditions can affect reproductive health, few have described perinatal outcomes among individuals with an FAS diagnosis. METHODS: We analyzed data from the Study of Mothers and Infants, an administrative birth cohort derived from California birth certificates linked with a hospital discharge database. The cohort consisted of 7.3 million singleton, live births between 2005 and 2021. FAS was identified by International Classification of Diseases (ICD) codes in maternal hospital discharge records. Pregnancy and birth outcomes were captured via ICD codes in maternal or infant records. We performed descriptive analyses for pregnancy and birth outcomes by maternal FAS diagnosis. RESULTS: There were 35 babies born to 30 individuals with an FAS diagnosis between 2005 and 2021 (0.5/100,000 live births). The prevalence of births to individuals with an FAS diagnosis increased over the period. Individuals with an FAS diagnosis were more likely to identify as non-Hispanic White, or "other/multiple" race, and less likely to be Hispanic than those without FAS. They were also more likely to be publicly insured and less than 18 years old. Birthing individuals with FAS were also more likely to use nicotine during pregnancy and to have diagnoses of mental health disorders, epilepsy, substance use disorders, preexisting or gestational hypertension, and sexually transmitted infections or other infections complicating pregnancy. Infants of individuals with FAS were more likely to be born prematurely or small for gestational age and be admitted to the neonatal intensive care unit. CONCLUSIONS: These findings highlight the need for improved recognition of FAS among birthing people. The results suggest that individuals with FAS would benefit from early and sustained medical care prior to pregnancy to optimize perinatal outcomes.

20.
Alcohol Clin Exp Res (Hoboken) ; 48(1): 110-121, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38054571

RESUMO

BACKGROUND: Children with fetal alcohol spectrum disorder (FASD) often experience delayed, missed, or incorrect diagnosis due to low FASD awareness and diagnostic capacity. Current strategies to expand awareness and diagnostic capacity are insufficient or impractical. METHODS: This project examined the feasibility of Extension for Community Healthcare Outcomes (ECHO) tele-mentoring to train community clinicians about FASD. Participants attended ten 1-h weekly ECHO sessions that included presentations, vignettes, and discussions. Measurement utilized Bowen's feasibility domains. RESULTS: Robust webpage traffic yielded 19 participants (demand). Fidelity scores, hub team field notes, and participant ratings indicated feasibility based on acceptability, implementation, practicality, and adaptation. Clinicians' knowledge and confidence improved and case-based diagnostic accuracy was high (limited efficacy). CONCLUSIONS: ECHO FASD is a feasible training method that shows promise in increasing diagnostic capacity across many geographic regions.

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