RESUMEN
Fetal alcohol spectrum disorders (FASD) are an important preventable global health concern. FASD is an umbrella term describing a range of mild to severe cognitive and behavioral problems among individuals prenatally exposed to alcohol. Alcohol causes FASD by interfering with molecular pathways during fetal development involving increased oxidative stress, disturbed organ development, and change of epigenetic gene expression control. Neuroimaging studies into FASD show several neuropathological abnormalities including abnormal brain structure, cortical development, white matter microstructure, and functional connectivity. Individuals with FASD experience a wide range of cognitive and behavioral challenges. Risks of violent behavior, criminality, and criminalization have been indicated by a limited number of epidemiological studies. The relationship between prenatal alcohol exposure and the increase of these risks remains unclear. This is further impeded by the complexity of an FASD diagnosis, the lack of a clear dose-response relationship of brain impact to alcohol use, and the lack of a clear FASD behavioral phenotype. Literature with respect to FASD and crime is still in its infancy. From the studies available, it is recommended to pay close attention to individuals with FASD and the relation with the criminal justice system and the risk for discrimination. There is a clear need for FASD-related stigma reduction programs within the correctional system. Further investigations into reliable biomarkers for diagnosis and treatment are needed.
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Trastornos del Espectro Alcohólico Fetal , Efectos Tardíos de la Exposición Prenatal , Femenino , Embarazo , Humanos , Trastornos del Espectro Alcohólico Fetal/epidemiología , Efectos Tardíos de la Exposición Prenatal/epidemiología , Crimen , Etanol , Encéfalo/diagnóstico por imagenRESUMEN
July 20, 2021 marked the 30th anniversary of the publication of the landmark trial by the British Medical Research Council showing unequivocally that maternal intake of folic acid (vitamin B9) starting before pregnancy prevents most cases of infant spina bifida and anencephaly-two major neural tube defects that are severe, disabling, and often fatal. Mandatory food fortification with folic acid is a safe, cost-effective, and sustainable intervention to prevent spina bifida and anencephaly. Yet few countries implement fortification with folic acid; only a quarter of all preventable spina bifida and anencephaly cases worldwide are currently avoided by food fortification. We summarise scientific evidence supporting immediate, mandatory fortification with folic acid to prevent the development of spina bifida and anencephaly. We make an urgent call to action for the World Health Assembly to pass a resolution for universal mandatory folic acid fortification. Such a resolution could accelerate the slow pace of spina bifida and anencephaly prevention globally, and will assist countries to reach their 2030 Sustainable Development Goals on child mortality and health equity. The cost of inaction is profound, and disproportionately impacts susceptible populations in low-income and middle-income countries.
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Anencefalia , Equidad en Salud , Disrafia Espinal , Anencefalia/prevención & control , Niño , Femenino , Ácido Fólico , Alimentos Fortificados , Humanos , Lactante , Embarazo , Prevalencia , Disrafia Espinal/prevención & controlRESUMEN
AIMS: Nocturnal enuresis (NE), daytime urinary incontinence (DUI), fecal incontinence (FI), as well as sleep and behavioral problems are common in young children. The aim of this study was to analyze the association of sleep and psychological parameters for all types of incontinence in a representative sample of young children. METHODS: Six hundred thirty eight (of 1161) children with a mean age of 5.9 years (50.9% boys) were assessed during their mandatory school entry examination. The participation rate was 55%. Instruments included the Strengths and Difficulties Questionnaire, the Children's Sleep Habits Questionnaire and other clinical questions. Incontinence was diagnosed according to ICCS standards. Constipation was assessed by two questions. RESULTS: 17.1% of children had at least one type of incontinence, 14.8% had NE, 5.0% DUI, 2.1% FI, and 4.8% were constipated. 6.7% of children had clinically relevant psychological problems. 22.7% of children had sleep problems regularly (5-7 times/week). A wide variety of sleep problems were reported. Children with incontinence were not affected by a higher rate of sleep problems. Children with NE had fewer night wakings and those with constipation fewer parasomnias. Sleep and psychological problems were significantly associated, especially in children with DUI and FI. CONCLUSIONS: Sleep and behavioral problems are common in young children. Psychological problems have a clear impact on sleep. Young children with incontinence do not have more sleep problems than continent children. Therefore, both sleep and psychological problems should be addressed in young children with incontinence.
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Enuresis Diurna , Incontinencia Fecal , Enuresis Nocturna , Trastornos del Sueño-Vigilia , Niño , Preescolar , Enuresis Diurna/complicaciones , Incontinencia Fecal/psicología , Femenino , Humanos , Masculino , Enuresis Nocturna/complicaciones , Sueño , Trastornos del Sueño-Vigilia/epidemiología , Encuestas y CuestionariosRESUMEN
BACKGROUND: Fetal alcohol spectrum disorders (FASD) is a group of conditions resulting from prenatal alcohol exposure (PAE). Patients with FASD experience a variety of neuropsychological symptoms resulting from central nervous system impairment. Little is known about sleep disorders associated with PAE. The objective of this study was to investigate sleep problems related to FASD. METHODS: Forty patients (median age 8 years (6; 11)) diagnosed with FASD and forty typically developing children (median age 10 years (8; 13)) were recruited for the 1st phase of the study. In the 1st phase, the screening of sleep problems was performed with Child Sleep Habit Questionnaire (CSHQ) filled in by a caregiver. Those of the FASD group who scored above 41 points were qualified to the 2nd phase of the study and had an in-lab attended polysomnography (PSG) performed. The measurements consisted of electroencephalogram, electrooculograms, chin and tibial electromyogram, electrocardiogram, ventilatory monitoring, breathing effort, pulse oximetry, snoring and body position. Their results were compared to PSG laboratory reference data. RESULTS: The number of participants with sleep disturbances was markedly higher in the FASD group as compared to typically developing children (55% vs. 20%). The age-adjusted odds ratio for a positive result in CSHQ was 4.31 (95% CI: 1.54-12.11; p = 0.005) for FASD patients as compared to the control group. Significant differences between the FASD as compared to the typically developing children were observed in the following subscales: sleep onset delay, night wakings, parasomnias, sleep disordered breathing, and daytime sleepiness. Children from the FASD group who underwent PSG experienced more arousals during the sleep as compared with the PSG laboratory reference data. The respiratory indices in FASD group appear higher than previously published data from typically developing children. CONCLUSION: The results support the clinical observation that sleep disorders appear to be an important health problem in individuals with FASD. In particular distorted sleep architecture and apneic/hypopneic events need further attention.
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Trastornos del Espectro Alcohólico Fetal/diagnóstico , Trastornos del Sueño-Vigilia/diagnóstico , Adolescente , Niño , Preescolar , Electroencefalografía , Femenino , Humanos , Masculino , Oximetría , Polisomnografía , Encuestas y CuestionariosRESUMEN
BACKGROUND AND AIMS: Alcohol-related liver disease is the most frequent cause of cirrhosis and a major indication for liver transplantation. Several alcohol use biomarkers have been developed in recent years and are already in use in several centers. However, in patients with liver disease their diagnostic performance might be influenced by altered biomarker formation by hepatic damage, altered excretion by kidney dysfunction and diuretics use, and altered deposition in hair and nails. We systematically reviewed studies on the diagnostic accuracy of biomarkers of alcohol use in patients with liver disease and performed a detailed study quality assessment. METHODS: A structured search in PubMed/Medline/Embase databases was performed for relevant studies, published until April 28, 2019. The risk of bias and applicability concerns was assessed according to the adapted quality assessment of diagnostic accuracy studies-2 (QUADAS-2) checklist. RESULTS: Twelve out of 6,449 studies met inclusion criteria. Urinary ethyl glucuronide and urinary ethyl sulfate showed high sensitivity (70 to 89 and 73 to 82%, respectively) and specificity (93 to 99 and 86 to 89%, respectively) for assessing any amount of alcohol use in the past days. Serum carbohydrate-deficient transferrin showed low sensitivity but higher specificity (40 to 79 and 57 to 99%, respectively) to detect excessive alcohol use in the past weeks. Whole blood phosphatidylethanol showed high sensitivity and specificity (73 to 100 and 90 to 96%, respectively) to detect any amount of alcohol use in the previous weeks. Scalp hair ethyl glucuronide showed high sensitivity (85 to 100%) and specificity (97 to 100%) for detecting chronic excessive alcohol use in the past 3 to 6 months. Main limitations of the current evidence are the lack of an absolute gold standard to assess alcohol use, heterogeneous study populations, and the paucity of studies. CONCLUSIONS: Urinary and scalp hair ethyl glucuronide are currently the most validated alcohol use biomarkers in patients with liver disease with good diagnostic accuracies. Phosphatidylethanol is a highly promising alcohol use biomarker, but so far less validated in liver patients. Alcohol use biomarkers can complement each other regarding diagnostic time window. More validation studies on alcohol use biomarkers in patients with liver disease are needed.
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Consumo de Bebidas Alcohólicas/sangre , Biomarcadores/sangre , Hepatopatías/sangre , Humanos , Valor Predictivo de las Pruebas , Factores de TiempoRESUMEN
INTRODUCTION: Fetal alcohol spectrum disorders (FASD) is an important preventable public health concern, associated to a number of common pediatric problems such as incontinence. Little is known about the prevalence and presentation of incontinence in FASD, which hinders effective management. OBJECTIVE: The aim of the present study was to investigate incontinence among people with FASD. STUDY DESIGN: Parental questionnaires were sent to all eligible FASD participants. To enable comparing the observed prevalence with typically developing, non-prenatally alcohol-exposed individuals, two clinical control groups of patients undergoing immunotherapy for pollen allergy (GKA) and patients diagnosed with celiac disease (GKG) were selected. RESULTS: A total of 119 participants were included in the study (FAS: n = 24, partial fetal alcohol syndrome [pFAS]: n = 19, alcohol-related neurodevelopmental disorder [ARND]: n = 28, GKA: n = 34, and GKG: n = 14). Overall incontinence for FASD was estimated to be 24% (confidence interval [CI] ranges from 15 to 36); nocturnal enuresis (NE) was present in 10% (CI ranges from 4 to 19), daytime urinary incontinence (DUI) in 11% (CI ranges from 5 to 21), and fecal incontinence (FI) in 13% (CI ranges from 6 to 23). Symptoms of urgency were present for 52%, voiding postponement for 10%, and straining for 2%. These data are both consistent with higher prevalence in individuals with FASD and with similar prevalence (the CIs overlap). CONCLUSION: Children and adolescents with FAS, pFAS, ARND, GKA, and GKG are affected by incontinence. Highest rates were observed in pFAS and ARND. Persons with FAS were mostly affected by DUI, those with pFAS by NE, and those with ARND by FI.
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Enuresis Diurna , Trastornos del Espectro Alcohólico Fetal , Enuresis Nocturna , Adolescente , Niño , Estudios de Cohortes , Femenino , Trastornos del Espectro Alcohólico Fetal/diagnóstico , Trastornos del Espectro Alcohólico Fetal/epidemiología , Humanos , Polonia , EmbarazoRESUMEN
Alcohol exposure during pregnancy affects the development of the fetus in various ways and may lead to Fetal Alcohol Spectrum Disorders (FASD). FASD is one of the leading preventable forms of neurodevelopmental disorders. In the light of prevention and early intervention, knowledge on how ethanol exposure induces fetal damage is urgently needed. Besides direct ethanol and acetaldehyde toxicity, alcohol increases oxidative stress, and subsequent general effects (e.g., epigenetic imprinting, gene expression, and metabolite levels). The current review provides an overview of the existing knowledge about specific downstream pathways for FASD that affects e.g., the SHH pathway, cholesterol homeostasis, neurotransmitter signaling, and effects on the cytoskeleton. Available human data vary greatly, while animal studies with controlled ethanol exposition are only to a certain limit transferable to humans. The main deficits in knowledge about FASD are the lack of pathophysiological understanding and dose-response relationships, together with the lack of reliable biomarkers for either FASD detection or estimation of susceptibility. In addition to single outcome experiments, omics data should be generated to overcome this problem. Therefore, for future studies we recommend holistic data driven analysis, which allows integrative analyses over multiple levels of genetic variation, transcriptomics and metabolomics data to investigate the whole image of FASD development and to provide insight in potential drug targets for intervention.
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Trastornos del Espectro Alcohólico Fetal/genética , Trastornos del Espectro Alcohólico Fetal/metabolismo , Trastornos del Espectro Alcohólico Fetal/fisiopatología , Animales , Modelos Animales de Enfermedad , Etanol/efectos adversos , Femenino , Feto/metabolismo , Humanos , Embarazo , Efectos Tardíos de la Exposición Prenatal/fisiopatologíaRESUMEN
OBJECTIVES: Fetal alcohol spectrum disorders (FASD) is a worldwide problem. Maternal alcohol consumption is an important risk factor for FASD. It remains unknown which alcohol consumption patterns most strongly predict FASD. The objective of this study was to identify these. DESIGN: Systematic literature review. METHODS: We searched in PubMed, PsychINFO, PsycARTICLES, ERIC, CINAHL, Embase and MEDLINE up to August 2018. The query consisted of keywords and their synonyms related to FASD, pregnancy and behaviour. Studies were excluded when not published in English, were reviews or involved non-human subjects. Substantial heterogeneity precluded aggregation or meta-analysis of the data. Instead, data were qualitatively inspected. RESULTS: In total, 21 studies were eligible for further data analysis. All studies that measured both maternal alcohol drinking behaviours and FASD reported retrospective data on maternal drinking patterns, employing both continuous and categorical measures and exhibiting substantial heterogeneity in measures of alcohol consumption (eg, timing of exposure, quantification of alcohol measure and definition of a standard drink). Study quality improved over time and appeared higher for studies based on active case ascertainment, especially when conducted in schools and when behaviour was assessed through interviews. CONCLUSIONS: We aimed to identify specific maternal drinking behaviour(s) related to FASD. The state of the literature precludes such conclusions. Evidence-based preventive measures necessitate identifying which prenatal alcohol drinking behaviour(s) are most in need of intervention. Therefore, we formulate three recommendations for future research. First, future studies can optimise the value of the collected dataset through specifying measurements and reporting of maternal drinking behaviours and avoiding categorised measures (nominal or ordinal) whenever possible. Second, samples should not be selected based on FASD status, but instead, FASD status as well as maternal alcohol consumption should both be measured in a general population sample. Finally, we provide 10 reporting guidelines for FASD research.
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Consumo de Bebidas Alcohólicas/efectos adversos , Trastornos del Espectro Alcohólico Fetal/etiología , Conducta Materna , Abstinencia de Alcohol/psicología , Consumo de Bebidas Alcohólicas/sangre , Consumo de Bebidas Alcohólicas/psicología , Terapia Conductista , Nivel de Alcohol en Sangre , Femenino , Trastornos del Espectro Alcohólico Fetal/prevención & control , Trastornos del Espectro Alcohólico Fetal/psicología , Humanos , Recién Nacido , Entrevista Psicológica , Embarazo , Estudios Retrospectivos , Factores de RiesgoRESUMEN
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.
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Enuresis Diurna/epidemiología , Trastornos del Espectro Alcohólico Fetal/epidemiología , Enuresis Nocturna/epidemiología , Distribución por Edad , Niño , Preescolar , Estudios de Cohortes , Intervalos de Confianza , Países en Desarrollo , Enuresis Diurna/diagnóstico , Femenino , Trastornos del Espectro Alcohólico Fetal/diagnóstico , Humanos , Incidencia , Masculino , Enuresis Nocturna/diagnóstico , Medición de Riesgo , Índice de Severidad de la Enfermedad , Distribución por Sexo , Sudáfrica , Encuestas y CuestionariosRESUMEN
PURPOSE OF REVIEW: The objective of the current contribution is to propose an evidence-based, six-step approach to develop effective programs for prevention of fetal alcohol spectrum disorders. RECENT FINDINGS: Despite widespread campaigns aimed to reduce prenatal alcohol exposure, the number of affected children continues to be high. Current strategies to reduce prenatal alcohol exposure may be ineffective or counterproductive. However, proven principles of health promotion could be applied to reduce drinking in pregnancy. One such approach is Intervention Mapping (IM), a six-step procedure based on proven principles to change behaviors. SUMMARY: FASD affects all communities and is an underestimated problem worldwide. Programs based on proven principles of behavior change are warranted. Program developers can use pre-existing protocols and strategies from evidence-based practice, such as Intervention Mapping. Developers who plan their preventive programs in a systematic and evidence-based manner increase the chances of success in reducing prenatal alcohol exposure and FASD.
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BACKGROUND: Although fetal alcohol spectrum disorders (FASD) affect communities worldwide, little is known about its prevalence. The objective of this study was to provide an overview of the global FASD prevalence. METHODS: We performed a search in multiple electronic bibliographic databases up to August 2015, supplemented with the ascendancy and descendancy approach. Studies were considered when published in English, included human participants, and reported empirical data on prevalence or incidence estimates of FASD. Raw prevalence estimates were transformed using the Freeman-Tukey double arcsine transformation so that the data followed an approximately normal distribution. Once the pooled prevalence estimates, 95% confidence intervals and prediction intervals were calculated based on multiple meta-analyses with transformed proportions using random effects models, these estimates were transformed back to regular prevalence rates. Heterogeneity was tested using Cochran's Q and described using the I(2) statistic. RESULTS: Among studies that estimated prevalence in general population samples, considerable differences in prevalence rates between countries were found and therefore separate meta-analyses for country were conducted. Particularly high-prevalence rates were observed in South Africa for fetal alcohol syndrome (55.42 per 1,000), for alcohol-related neurodevelopmental disorder (20.25 per 1,000), and FASD (113.22 per 1,000), For partial fetal alcohol syndrome high rates were found in Croatia (43.01 per 1,000), Italy (36.89 per 1,000), and South Africa (28.29 per 1,000). In the case of alcohol-related birth defects, a prevalence of 10.82 per 1,000 was found in Australia. However, studies into FASD exhibited substantial heterogeneity, which could only partly be explained by moderators, most notably geography and descent, in meta-regressions. In addition, the moderators were confounded, making conclusions as to each moderator's relevance tentative at best. CONCLUSIONS: The worldwide pooled prevalence estimates are higher than assumed so far, but this was largely explained by geography and descent. Furthermore, prevalence studies varied considerably in terms of used methodology and methodological quality. The pooled estimates must therefore be interpreted with caution and for future research it is highly recommended to report methodology in a more comprehensive way. Finally, clear guidelines on assessing FASD prevalence are urgently needed, and a first step toward these guidelines is presented.