Association of Fatty Acid Ethyl Esters in Meconium of Neonates with Growth Deficits at Birth: a Prospective, Single-Centre Cohort Study

BACKGROUND: In this prospective cohort study, we investigated the association between fatty acid ethyl esters (FAEEs) in meconium as biomarkers of prenatal ethanol exposure and growth deficits, as birth outcomes, that constitute several of the key cardinal features of fetal alcohol syndrome. METHODS: A total of 157 meconium samples were collected from enrolled infants within 24 hours of birth, and nine FAEEs were quantified using liquid chromatography/tandem mass spectrometry. The relationships between cumulative concentrations of nine species of FAEEs in meconium and birth parameters of growth (age-sex-specific centiles of head circumference [HC], weight, and length) and respective and combined birth outcomes of growth deficits (HC ≤ 10th centile, weight ≤ 10th centile, and length ≤ 10th centile) were determined. RESULTS: Multivariate logistic regression analysis demonstrated that higher cumulative concentrations of meconium FAEEs correlated with elevated risks for HC and length, both, 10th percentile or less (adjusted odds ratio [aOR], 2.94; 95% confidence interval [CI], 1.12–7.74; P = 0.029) and HC and weight and length, all of them, 10th percentile or less (aOR, 3.27; 95% CI, 1.12–9.59; P = 0.031). CONCLUSION: The elevated cumulative FAEEs in meconium were associated with combined growth deficits at birth, specifically HC and length, both, 10th percentile or less, which might be correlated with detrimental alcohol effects on fetal brain and bone development, suggesting a plausible alcohol-specific pattern of intrauterine growth restriction.

Possíveis prejuízos decorrentes do uso de tabaco e álcool durante a gestação / Possible damages arising out of tobacco and alcohol use during pregnancy

Introdução: O consumo de álcool e tabaco estão presentes em diversos contextos e realidades da sociedade. Não escolhe gênero, idade e tão pouco nível social, de tal forma se torna pertinente o estudo do uso de drogas durante o período gestacional, bem como os seus prejuízos para a gestante, feto e recém-nascido. Objetivo: fazer uma revisão bibliográfica, sobre os prejuízos para a mãe, feto e recém- -nascido decorrentes do uso de tabaco e álcool durante a gestação. Método: Realizou-se uma pesquisa de caráter bibliográfico. Resultados: Como fatores de risco foram identificados mulheres solteiras, adolescentes, baixa escolaridade, baixa renda ou desempregadas, e muitas vezes influenciadas pelo meio ambiente e mídia. Conclusões: as mulheres ao usarem as drogas tabaco e álcool na gravidez, podem prejudicar a saúde do feto e recém-nascidos, aumentando o risco de prematuridade, malformações congênitas, distúrbios comportamentais, disfunção no Sistema Nervoso Central (SNC), baixo peso/ altura e aborto espontâneo.

Introduction: The use of tobacco and alcohol consumption are present in various contexts and realities of society. Do not choose gender, age and so little social level, so that it becomes relevant the study of drug use during pregnancy, and the damage for pregnant, fetus and newborn. Aim: this paper aims to make a literature review on the damage that occurred during pregnancy, fetus and newborn due to the use of tobacco and alcohol. Method: A literature search was carried out. Results: As risk factors were identified unmarried women, adolescents, low education, low income and or unemployed, and often influenced by the environment and media. It could be perceived that women use tobacco to drugs and alcohol during pregnancy can harm the health of the fetus and newborn, increasing the risk of prematurity, birth defects, behavioral disorders, dysfunction in the Central Nervous System (CNS), down height/ weight and miscarriage among.

Linguagem no transtorno do espectro alcoólico fetal: uma revisão / Language in fetal alcohol spectrum disorder: a review

O Transtorno do Espectro Alcoólico Fetal é uma condição clínica que vem despertando o interesse de diferentes pesquisadores por ser considerada relativamente frequente na população, com incidência de aproximadamente 10 casos a cada 1000 nascimentos. As alterações neurodesenvolvimentais que caracterizam o fenótipo desta condição são descritas pela presença de prejuízos de memória, de atenção, da habilidade visuo-espacial, das funções executivas, de aprendizagem, bem como do comprometimento na linguagem falada. Considerando os prejuízos da linguagem que permeiam o Espectro Alcoólico Fetal, este trabalho propõe-se a realizar uma revisão da literatura para identificar quais os procedimentos e achados reportados na área da linguagem para essa condição clínica. Os 21 artigos selecionados nesta revisão refletem uma variabilidade na metodologia empregada e distintos procedimentos de avaliação da linguagem falada. O perfil da linguagem falada dos indivíduos com diagnóstico de Transtorno do Espectro Alcoólico Fetal caracteriza-se por diferentes desempenhos na linguagem falada e com grau de comprometimento variável. Diversos fatores influenciam na variabilidade de comprometimento da linguagem falada descrito no Transtorno do Espectro Alcoólico Fetal, sendo que a quantidade de álcool ingerida, o período de gestação em que ocorreu o consumo e a susceptibilidade individual do feto ao metabolizar o álcool no organismo são frequentemente descritos.

Fetal Alcohol Spectrum Disorder is a clinical condition that has aroused the interest of researchers as it is considered relatively common in the population, with an incidence of approximately 10 cases per 1,000 births. The neurodevelopmental changes that characterize the phenotype of this condition are described by deficits in memory, attention, visual-spatial and executive function, learning disabilities and the presence of spoken language impairment. Considering the language deficit as part of Fetal Alcohol Spectrum Disorder, we proposed to review the literature to identify which procedures are used in the assessment of language and findings reported in language in Fetal Alcohol Spectrum Disorder. The 21 articles selected in this review reflect variability in methodology and commonly used procedures assessment of spoken language. The spoken language profile of individuals diagnosed with Fetal Alcohol Spectrum Disorder is characterized by different performance and with varying degrees of impairment. Several factors influence the variability of spoken language impairment described in Fetal Alcohol Spectrum Disorders, and the amount of alcohol consumed, the gestation period when consumption took place and individual susceptibility of each fetus to metabolize alcohol in the body are often described.

Cognitive aspects of fetal alcohol syndrome in young adults: two case studies / Aspectos Cognitivos da Síndrome Fetal Alcoólica em adultos jovens: dois estudos de caso

Fetal Alcohol Syndrome (FAS) includes a specific pattern of cognitive deficits, including language and speech disorders. Two adult participants were studied by means of the Examination of Language Test and a battery of complementary tests to evaluate oral and written language. Our data indicated great results of the participant who had psychopedagogical and speech-language assistance than the other who did not receive none intervention. These findings suggest that early diagnosis and intervention are crucial to minimize sequelae in FAS.

A Síndrome Fetal Alcóolica (SFA) inclui um padrão de déficit cognitivo, incluindo alterações de linguagem e fala. Estudou-se dois participantes adultos que foram diagnosticados com SFA na infância por meio do Teste de Exame de Linguagem e de uma bateria de testes complementares para avaliar aspectos da linguagem oral e escrita. Os dados indicaram que o participante que recebeu uma intervenção psicopedagógica apresentou melhores resultados que aquele que não tinha recebido nenhuma intervenção. Estes achados indicam que um diagnóstico precoce é fundamental para minimizar as sequelas da SFA.

Aspectos da fluência na narrativa oral de indivíduos com Transtorno do Espectro Alcoólico Fetal / Fluency aspects in the oral narrative of individuals with Fetal Alcohol Spectrum Disorder

OBJETIVO: Investigar aspectos da fluência na narrativa oral de indivíduos com Transtorno do Espectro Alcoólico Fetal (TEAF), e compará-los a indivíduos com desenvolvimento típico de linguagem quanto à frequência de disfluências e à velocidade de fala. MÉTODOS: Participaram deste estudo nove indivíduos com TEAF (dois com Síndrome Alcoólica Fetal e sete com Transtorno Neurodesenvolvimental Relacionado ao Álcool) com idades cronológicas entre 4 e 12 anos de idade, pareados a outros nove indivíduos com desenvolvimento típico de linguagem segundo gênero e idade cronológica. As narrativas orais foram produzidas utilizando o livro Frog, where are you? e analisadas quanto aos parâmetros da fluência de fala do Teste de Linguagem Infantil - ABFW (tipologia de disfluências, frequência de rupturas e velocidade de fala). RESULTADOS: Os grupos com TEAF e desenvolvimento típico de linguagem diferiram quanto à frequência total de disfluências, disfluências comuns e disfluências gagas, sendo as tipologias mais frequentes a hesitação e a pausa. CONCLUSÃO: Os resultados sugerem que a frequência aumentada de pausas e hesitações dos indivíduos com TEAF pode ser decorrente de dificuldades na elaboração da narrativa oral de histórias, justificando a menor taxa de velocidade de fala apresentada por esses indivíduos.

PURPOSE: To investigate fluency aspects in the oral narrative of individuals with Fetal Alcohol Spectrum Disorder (FASD), and to compare them with individuals with typical language development regarding frequency of disfluencies and speech rate. METHODS: Participants were nine individuals with FASD (two with Fetal Alcohol Syndrome and seven with Alcohol-Related Neurodevelopmental Disorder) and chronological ages between 4 and 12 years. This group was matched to nine individuals with typical language development by gender and chronological age. Oral narratives were produced using the book "Frog, where are you?", and analyzed according to the speech fluency parameters of the Teste de Linguagem Infantil - ABFW (type of disfluency, frequency of ruptures, and speech rate). RESULTS: The FASD and typical language development groups differed on overall frequency of disfluencies, typical disfluencies and stuttering disfluencies. For both groups, the most frequent types of disfluencies were hesitation and pause. CONCLUSION: The results suggest that the increased frequency of pauses and hesitations in individuals with FASD might be due to difficulties in the linguistic elaboration of oral narratives, justifying the lower speech rate showed by these individuals.

Desempenho intelectual na exposição alcoólica fetal: relato de série de 10 casos / Intellectual performance in fetal alcohol exposure: report of 10 cases series

OBJETIVO: Descrever o desempenho intelectual em uma amostra de crianças e adolescentes que sofreram exposição pré-natal ao álcool. MÉTODOS: Este estudo se constitui em uma série de casos, composta por 10 sujeitos entre 6 e 16 anos, com histórico de exposição alcoólica fetal. Esses sujeitos foram submetidos a uma avaliação médica para serem caracterizados como amostra clínica, respeitando critérios de inclusão e exclusão previamente estabelecidos. O desempenho intelectual da amostra foi estudado por meio dos instrumentos: Escala de Inteligência Wechsler para Criança (WISC-III) e Teste Matrizes Progressivas de Raven. RESULTADOS: A amostra foi caracterizada com desempenho médio inferior pela WISC-III. No Teste Raven, a amostra apresentou desempenho intelectualmente médio. Entre todos os índices da WISC-III, Resistência à Distração apresentou-se mais prejudicado. Os subtestes Aritmética e Arranjo de Figuras apresentaram resultados mais prejudicados comparados ao desempenho obtido nos outros subtestes. O prejuízo dessas funções pode trazer como consequência secundária e dificuldades no aprendizado e na interação social e impactar o desenvolvimento desses jovens. CONCLUSÕES: Os resultados encontrados nesta série de 10 casos foram comparados àqueles descritos em estudos nacionais e internacionais. O prejuízo cognitivo causado pelo uso do álcool na gestação pode se manifestar em crianças em idade escolar por meio da dificuldade de aprendizagem e da dificuldade de estabelecer interações sociais. Dessa forma, a exposição pré-natal ao álcool torna-se um problema de saúde pública, que precisa de maior atenção das políticas públicas nacionais para a realização de identificação e intervenção precoce.

OBJECTIVE: Describe the intellectual performance in a sample of children and adolescents that suffered prenatal exposure of alcohol. METHODS: This report constitutes a case series study, comprising 10 subjects between 6 and 16 years old, with a history of fetal alcohol exposure. These subjects underwent a medical evaluation to be characterized as a clinical sample, respecting the inclusion and exclusion criteria previously established. The sample's intellectual performance was studied by means of instruments: Wechsler Intelligence Scale for Children 3rd. Edition (WISC-III) and Raven's Progressive Matrices Test. RESULTS: The sample was evaluated as being of low medium performance by the WISC-III. In the Raven Test the sample exhibited medium intellectual performance. Among all of the WISC-III indexes, Resistance to Distractions was most impaired. The Arithmetic and Picture Arrangement subtests showed more impairment results in comparison of the others subtests. As a secondary consequence, the impairment of these functions can cause difficulties in learning and social interaction and impact the development of these young people. CONCLUSIONS: The results of these series of ten cases were compared to those reported in national and international studies. The cognitive impairment caused by alcohol use during pregnancy can manifest in school-age children through learning difficulties and difficulty in establishing social interactions. Thus, prenatal exposure to alcohol becomes a public health issue which needs greater attention from national policies to carry out identification and early intervention.

Efectos del ácido fólico sobre algunas variables morfométricas del timo de ratas adolescentes con síndrome fetal alcohólico / Effects of folic acid on some morphometric variables of the thymus of adolescent rats with fetal alcohol syndrome

Se pretende determinar los efectos protectores sobre el timo de ratas adolescente con síndrome fetal alcohólico experimental, para lo cual se utilizaron 24 ratas Wistar adolescentes y gestantes divididas en 4 grupos: A) tratadas con etanol, B) tratadas con etanol y ácido fólico, C) tratadas solo con ácido fólico y D) grupo no tratado. El tratamiento se extendió durante toda la gestación hasta el parto. Se tomaron 2 crías por cada madre. A las crías se les practicó la eutanasia a los 35 días de vida posnatal. Se extrajo el timo y se obtuvieron cortes de 4 micrómetros y se colorearon con H/E. Se utilizó el programa digital para morfometría Image Tool. Se midieron las áreas de la corteza y médula del timo, así como la relación entre ambas variables. Se realizó ANOVA de 2 vías. El área de la corteza del timo fue significativamente menor en el grupo tratado con etanol en relación con el resto de los grupos. Los hijos de las madres tratadas con ácido fólico mostraron los valores mayores en el área de la corteza, y el grupo tratado con etanol y ácido fólico mostró un patrón muy similar al control. Se concluyó que el etanol provoca cambios histopatológicos evaluados como atrofia de la corteza del timo y que el ácido fólico suministrado a la madre durante la gestación tiene efecto protector sobre esta anomalía

The study is intended to determine the protective effects of folic acid on the thymus of adolescent rats with experimental fetal alcohol syndrome. To this end, 24 adolescent and pregnant Wistar rats were used, which were divided in 4 groups: A) treated with ethanol, B) treated with ethanol and folic acid, C) treated only with folic acid, and D) not treated. Treatment extended throughout the entire gestation period until delivery. Two offspring were chosen from each mother. The offspring were euthanized at 35 days of postnatal life. The thymus was extracted and 4-micrometer cutouts were obtained, which were colored with H/E. The digital program Image Tool was used for morphometry. Measurements were taken of areas of the thymic cortex and medulla, and the relationship between the two variables was determined. A two-way ANOVA was performed. The thymic cortex area was significantly smaller in the group treated with ethanol than in the other groups. Offspring of mothers treated with folic acid showed the highest cortex area values, and the group treated with ethanol and folic acid exhibited a pattern very similar to the control group. It was concluded that ethanol brings about histopathological changes evaluated as thymic cortex atrophy, and that the folic acid administered to mothers during gestation has a protective effect over this abnormality

Síndrome alcohólico fetal / Fetal Alcohol Syndrome

Recientemente se ha comentado mucho en la opinión pública el nivel del alcohol permitido legalmente, e incluso ha sido motivo de modificaciones en nuestra ley de tránsito, y es que el alcohol se ha convertido en la droga m s usada en el mundo, la cual genera problemas de tipo social, psicológico y de salud pública. El consumo de alcohol durante el embarazo puede causar defectos en varios órganos y sistemas del organismo, sobre todo si la madre lo ingiere en grandes cantidades, pero no está  demostrado que beber pocas cantidades del mismo sea inocuo. Los efectos que el consumo del mismo le produce a los embriones ha sido demostrado en la literatura desde 1973, sin embargo su uso y abuso siguen tan altos, como alta es la cantidad de ni¤os que nacen con síndrome alcohólico fetal cada día...

Prenatal alcohol exposure did not affect impulsivity in rats that performed delay or probability discounting tasks

Individuals who fall under the spectrum of the Fetal Alcohol Syndrome have a higher prevalence of several cognitive disturbances, including a greater probability of being diagnosed with attention-deficit hyperactivity disorder (ADHD). Some of these effects, such as hyperactivity and attentional impairments, are already well established in the literature. The assessment of impulsive choice, however, has received little attention in human and animal studies. In the present study, we attempted to investigate the effects of prenatal ethanol exposure on two tasks related to impulsive choice that have never been studied in this condition: delay and probability discounting. METHOD: Rats prenatally exposed to ethanol (liquid diets with 0 percent, 10 percent, or 35 percent ethanol-derived calories [EDC] or laboratory chow) were trained to respond for food in either delay (n = 21) or probability (n = 48) discounting tasks performed in computer-controlled operant conditioning chambers. RESULTS: Prenatal treatment failed to differentiate the rates at which the rats chose the larger reinforcer associated with delay - in a task in which 35 percent EDC was not tested - or risk, although the results suggest that further tests are warranted.

Características clínicas e oftalmológicas de indivíduos com necessidades especiais institucionalizados no estado de Pernambuco, Brasil / Clinical and ophthalmological findings in subjects with special needs institutionalized in Pernambuco, Brazil

OBJETIVO: Descrever as características clínicas e oftalmológicas encontrados em indivíduos institucionalizados, com necessidades especiais no estado de Pernambuco. MÉTODOS: Realizou-se projeto multidisciplinar em 37 pacientes, com necessidades especiais, institucionalizados na Comunidade Rodolfo Aureliano (CRAUR), unidade da Fundação da Criança e do Adolescente (FUNDAC) em Recife-PE. A faixa etária dos indivíduos institucionalizados variou de seis a 30 anos, média de 18,8 ± 5,1 anos. O sexo masculino foi mais prevalente com 35 indivíduos (94,5 por cento). Consideraram-se como indivíduos institucionalizados, aqueles que vivem abrigados em instituições mantidas pelo Estado. Foi feito estudo de corte transversal, verificando-se os principais achados clínicos e oftalmológicos destes indivíduos. Realizou-se o exame oftalmológico completo nos casos, com boa colaboração e de acordo com protocolo pré-estabelecido. RESULTADOS: Uso de álcool na gravidez foi relatado por nove mães (24,3 por cento). Verificou-se a presença de retardo mental grave em 22 casos (59,4 por cento), paralisia cerebral e epilepsia em sete (18,9 por cento) indivíduos cada. Foi possível a realização do exame oftalmológico completo em 24 indivíduos (64,8 por cento). Detectou-se cegueira legal em dez casos (41,6 por cento). Os diagnósticos oftalmológicos mais encontrados foram ambliopia, erro refracional e phthisis bulbi em três casos (12,5 por cento) cada. Estrabismo foi encontrado em dois casos (8,3 por cento). CONCLUSÃO: Os achados oftalmológicos revelaram a importância do exame oftalmológico em indivíduos com necessidades especiais institucionalizados. A associação com múltiplas deficiências, tais como: doenças neuropsiquiátricas, contribuiu para o maior grau de dificuldade na avaliação e condução dos casos.

PURPOSE: To describe the main clinical and visual findings in special needs subjects institutionalized in Pernambuco State. METHODS: Thirty seven subjects with special needs, institutionalized in Rodolfo Aureliano Community (CRAUR), from Children and Adolescent Foundation (FUNDAC), in Recife PE, were evaluated by a multidiscipline team. The subjects aged 6 to 30 years, with mean of 18.8±5.1 years. Most of them were boys (94.5 percent). Institutionalized individuals were considered when they lived in institutions maintained by the State. It was made a cross-sectional study, verifying the main clinical and ophthalmic findings of these individuals. It was performed a complete ophthalmic examination in cases with good cooperation in accordance with pre-established protocol. RESULTS: Alcohol use in pregnancy was reported by nine mothers (24.3 percent). Severe mental retardation was seen in 22 subjects (59.4 percent), cerebral palsy and epilepsy in 7 (18.9 percent) subjects each. It was possible to perform the complete ophthalmic examination in 24 subjects (64.8 percent). Legal blindness was detected in 10 cases (41.6 percent). Main ophthalmologic findings found were amblyopia, refractive error and phthisis bulbi in 3 cases (12.5 percent) each. Strabismus was seen in two cases (8.3 percent). CONCLUSION: The ophthalmological findings detected revealed the importance of ophthalmic examination in institutionalized individuals with special needs. The association with multiple disabilities such as neuropsychiatric diseases contributed to the greatest degree of difficulty in the evaluation and conduct of cases.

Two-dimensional electrophoresis analysis for protein profile change in zebrafish alcohol syndrome model / 中华围产医学杂志

Objective To study the putative mechanisms underlying fetal alcohol syndrome by comparative protein-profile analysis between normal and ethanol-treated zebrafish embryo with twodimensional electrophoresis (2-DE).Methods Zebrafish embryos were exposed in 400 mmol/L ethanol at dome stage for 3 hours,and then ethanol-induced abnormalities were observed.Proteomes of zebrafish embryos at early stages including zygote stage,dome stage,shield stage and 5-somite stage,were separated by 2-DE.The subtraction analysis method was applied to eliminate the interference from maternal derived proteins.The ethanol-treated embryos at 5-somite stage was analyzed by 2-DE,and the protein profile was compared with that generated from control embryos at the same stage.The data obtained from 2-DE analysis were verified by in-situ hybridization.Results 400 mmol/L ethanol treatment caused axial malformation (62%) and cyclopia (60%) in zebrafish embryos.The 2-DE analysis showed that the expression of Collagen2al (Col2a1) and TAR DNA binding protein (TDP) was decreased in 12 hours post fertilization (12 hpf) ethanol-treated embryos by 81% and 73%,respectively.The in-situ hybridization also demonstrated that the expression of Col2al in axial mesoderm was reduced by ethanol treatment at the same stage.But for 24 hpf ethanoltreated embryos,the expression of Col2al in axis recovered to a comparable level to that in control embryos,while the structure of neural tube was disrupted severely by ethanol exposure.Conclusions It is suggested that the expressions of Col2al and TDP were disrupted by ethanol during early stage,which might induce the zebrafish developmental abnormalities.The ethanol interference on early expression of Col2al is supposed to be one of the major reasons leading to later abnormalities of axis and neutral tube.

Malformações congênitas em recém-nascidos de gestantes consumidoras de álcool / Congenital malformations in newborns of alcoholic mothers

Objective: To identify the presence of fetal alcohol syndrome, other alcohol-related congenital defects, and/or neurodevelopment disorders in newborns of mothers who consumed alcohol during gestation. Methods: In a public maternity in the city of São Paulo, 1,964 puerperal women were interviewed and 654 had consumed alcohol at some point during gestation. The newborns were clinically and laboratorially examined in order to identify the occurrence of fetal alcohol syndrome, congenital defects or neurodevelopment disorders related to alcohol. Results: Three children were found with fetal alcohol syndrome (1.5/1,000 live births), 6 with congenital defects related to alcohol (3.0/1,000 live births), and 67 with developmental disorders related to alcohol (34.1/1,000 live births). The congenital malformations found in these children were thin or absent corpus callosum, brain cyst, asymmetry of the cerebral ventricles, meningomyelocele, cleft lip, anteverted nose, low-set ears, megaureter, hydronephrosis, polydactyly, congenital clubfoot, aphalangia of the toes, cryptorchidism, and hypospadia. Conclusion: Newborns of mothers who consumed alcohol may have congenital malformations of various organs and systems, and early diagnosis is fundamental for a probable and occasional more effective resolution and progress.

Objetivo: Identificar em recém-nascidos de mães consumidoras de álcool durante a gestação a presença da síndrome alcoólica fetal, outros defeitos congênitos relacionados ao álcool e/ou desordens de neurodesenvolvimento. Métodos: Em maternidade pública da cidade de São Paulo, foram entrevistadas 1.964 puérperas, das quais 654 consumiram álcool em algum momento da gestação. Os seus recém-nascidos foram examinados clínica e laboratorialmente para identificar a ocorrência de síndrome alcoólica fetal, de defeitos congênitos ou ainda de desordens de neurodesenvolvimento relacionados ao álcool. Resultados: Foram encontradas 3 crianças com síndrome alcoólica fetal (1,5/1.000 nascidos vivos), 6 com defeitos congênitos relacionados ao álcool (3,0/1.000 nascidos vivos) e 67 com desordens de desenvolvimento relacionadas ao álcool (34,1/1.000 nascidos vivos). As malformações congênitas encontradas nessas crianças foram: corpo caloso fino ou ausente, cisto cerebral, assimetria dos ventrículos cerebrais, meningomielocele, lábio leporino, nariz antevertido, implantação baixa dos pavilhões auriculares, megaureter, hidronefrose, polidactilia, pé torto congênito, afalangia de artelho, criptorquidia e hipospádia. Conclusões: Os recém-nascidos de mães consumidoras de álcool podem apresentar malformações congênitas de diversos órgãos e sistemas, cujo diagnóstico precoce é fundamental para uma possível eventual resolução e evolução mais eficazes.

Interação álcool e metilmercúrio: um fator de risco na gravidez / Alcohol and methylmercury interaction: a risk factor at pregnancy

Estudos que envolvem o álcool e suas interações com outros neurotóxicos representam o foco de muitas pesquisas. Todas essas interações inflingem sérios problemas à saúde e que, infelizmente, até então, nenhuma terapia eficaz é capaz de tratar, ou mesmo prevenir, os malefícios por elas causados. A exposição fetal ao álcool e ao mercúrio tem alta incidência em algumas regiões do Brasil, especialmente nas áreas próximas à mineração, onde há mulheres grávidas dependentes de álcool. Este estudo foi realizado para examinar os efeitos da exposição combinada do etanol e metilmercúrio durante o desenvolvimento do sistema nervoso central. Em conjunto, os resultados sugerem que a intoxicação pelo etanol e pelo metilmercúrio mostra interferência em diferentes comportamentos. Essa vulnerabilidade do cérebro em desenvolvimento aos neurotóxicos é muito maior do que no sistema nervoso central adulto porque este tem uma barreira hematoencefálica desenvolvida, o que lhe dá muito mais proteção. Os dados também corroboram os estudos clínicos que, independentemente das alterações comportamentais, assinalam serem necessárias as intervenções em mulheres que consomem álcool durante a gravidez, visando a reduzir o risco da síndrome alcoólico-fetal.

Studies involving alcohol and its interactions with other neurotoxicants represent the focus of several researches. They are serious health problems and there is no effective therapy to treat, or even to prevent, the harms caused by them. Fetal exposure to alcohol and mercury has a high incidence in some regions of Brazil, especially in mining areas inhabited by alcoholics pregnant women. This study was performed in order to examine the effects of combined exposure to ethanol and methylmercury during the development of the central nervous system. Taken together, the results suggest that the ethanol and methylmercury intoxication show interference in the brain development and different behaviors. This vulnerability of the brain development to neurotoxicants is much greater than that of the adult central nervous system because the latter has an already developed blood-brain barrier to give much more protection. The data also support clinical studies showing that, despite behavioral alterations, interventions for women who use alcohol during pregnancy are needed in order to reduce the risk of fetal alcohol syndrome

The effects of alcohol in newborns / Efeitos do álcool no recém-nascido

The purpose of this article was to present a review of the effects of alcohol consumption by pregnant mothers on their newborn. Definitions, prevalence, pathophysiology, clinical features, diagnostic criteria, follow-up, treatment and prevention were discussed. A search was performed in Medline, LILACS, and SciELO databases using the following terms: "fetus", "newborn", "pregnant woman", "alcohol", "alcoholism", "fetal alcohol syndrome", and "alcohol-related disorders". Portuguese and English articles published from 2000 to 2009 were reviewed. The effects of alcohol consumed by pregnant women on newborns are extremely serious and occur frequently; it is a major issue in Public Health worldwide. Fetal alcohol spectrum disorders cause harm to individuals, their families, and the entire society. Nevertheless, diagnostic difficulties and inexperience of healthcare professionals result in such damage, being remembered rarely or even remaining uncovered. Alcohol-related injury to the fetus is fully avoidable; all it takes is for women not to drink alcoholic beverages during pregnancy. Therefore, detecting women who consume alcohol during pregnancy is paramount, as are specific programs to educate people about the consequences of alcohol use during pregnancy and breastfeeding.

O objetivo deste artigo foi o de apresentar uma revisão atualizada sobre as repercussões do consumo de álcool pela gestante no recém-nascido, abordando definições, prevalência, fisiopatologia, características clínicas, critérios diagnósticos, seguimento, tratamento e prevenção. O método usado para a elaboração deste artigo foi o levantamento bibliográfico da literatura médica por meio de busca na base de dados Medline, LILACS e na plataforma SciELO usando-se os termos: "feto", "recém-nascido", "gestante", "álcool", "alcoolismo", "síndrome alcoólica fetal" e "transtornos relacionados ao uso de álcool", abrangendo o período de 2000 a 2009, nos idiomas português e inglês. Concluiu-se que os efeitos do álcool no recém-nascido, consequentes do consumo dessa droga pelas gestantes, são extremamente graves e frequentes, representando um importante problema de Saúde Pública mundial. O espectro de desordens fetais alcoólicas leva a prejuízos individuais, para a sua família e para toda a sociedade. Apesar disso, a dificuldade do seu diagnóstico e a inexperiência dos profissionais de saúde faz com que o espectro dessas lesões seja pouco lembrado e até desconhecido. As lesões causadas pela ação do álcool no concepto são totalmente prevenidas se a gestante não consumir bebidas alcoólicas durante a gestação. Assim, é fundamental a detecção das mulheres consumidoras de álcool durante a gravidez e o desenvolvimento de programas específicos de alerta sobre as consequências do álcool durante a gestação e amamentação.

Alcohol Use during Pregnancy and Related Risk Factors in Korea

OBJECTIVE: The number of Korean women of childbearing age who drink alcohol and binge drink has increased remarkably in recent years. In the present study, we examined self-reported rates of alcohol use before and during pregnancy and identified maternal characteristics associated with drinking in pregnancy. METHODS: One thousand pregnant Korean women who visited the Department of Obstetrics and Gynecology (OB/GYN) completed a self-administered questionnaire that sought information on their demographic characteristics and incorporated features of the Alcohol Use Disorder Identification Test (AUDIT)-C to investigate their use of alcohol, including binge drinking, during three time periods ("in the year before this pregnancy," "during this pregnancy," and "in the previous 30 days"). RESULTS: Of these participants, 16.4% reported using alcohol during their pregnancy, 12.2% had used alcohol in the previous 30 days, and 1.7% reported binge drinking during their pregnancy. In the year before pregnancy, 77.1% had used alcohol, and 22.3% had binge drunk. The group using any amount of any alcohol during pregnancy showed a lower educational level, a lower rate of planned pregnancy, a lower level of knowledge relating to the risks of drinking alcohol during pregnancy, and a higher frequency of alcohol drinking in the year before pregnancy when compared with the abstinent group. Low educational level and unplanned pregnancy were revealed to be significant risk factors for alcohol consumption in pregnant women. CONCLUSION: This is the first study to examine any alcohol and binge alcohol drinking during pregnancy in Korea. Clinical attention and monitoring system on alcohol use during pregnancy are necessary in Korea.

Desordens do espectro alcoólico fetal e habilidades de comunicação: relato de caso familiar / Fetal alcohol spectrum disorders and communication abilities: family case report

Este estudo teve como objetivo caracterizar o perfil de habilidades comunicativas de cinco irmãos com Desordens do Espectro Alcoólico Fetal. O diagnóstico de Desordens do Espectro Alcoólico Fetal foi realizado a partir do histórico gestacional positivo para álcool e identificação de sinais clínicos. A avaliação fonoaudiológica constou da Observação do Comportamento Comunicativo, Escala de Desenvolvimento Comportamental de Gesell e Amatruda, Teste de Vocabulário por Imagens Peabody e avaliação audiológica. Todos os participantes apresentaram alterações nos comportamentos motor grosso, motor delicado, adaptativo, pessoal-social e de linguagem em graus variados. As habilidades comunicativas estavam comprometidas para todos os participantes e S4 apresentava comportamentos autísticos. As Desordens do Espectro Alcoólico Fetal foram confirmadas em S1, S2 e S5 e o diagnóstico de Síndrome Alcoólica Fetal foi confirmado para S3 e S4. Os resultados apresentaram variabilidade no desenvolvimento das habilidades de desenvolvimento dos irmãos com as Desordens do Espectro Alcoólico Fetal. A variabilidade dos achados, principalmente nas habilidades comunicativas e comportamentais, sugere a necessidade de acompanhar crianças com histórico de uso de álcool pela mãe, visto o impacto destas desordens no desenvolvimento global destes indivíduos, com impacto nas atividades de vida diária e escolaridade.

The present study had the aim to characterize the communicative abilities profile of five siblings with Fetal Alcohol Spectrum Disorders. This diagnosis was carried out based on the positive report of prenatal alcohol exposure and identification of clinical signs. The Speech-Language Pathology evaluation consisted of the Communicative Behavior Observation, the Behavioral Development Scale of Gesell and Amatruda, the Peabody Picture Vocabulary Test, and hearing evaluation. Participants presented various degrees of alterations in gross motor, fine motor, adaptative, personal-social and language behaviors. The communicative abilities were altered for all the participants, and S4 presented autistic behaviors. Fetal Alcohol Spectrum Disorders were confirmed in S1, S2 and S5 and the diagnosis of Fetal Alcohol Syndrome was confirmed for S3 and S4. The results showed variability in the development of the studied abilities among the siblings with Fetal Alcohol Spectrum Disorders. The variability of the findings, especially in communicative abilities and behavior, suggests the need to follow-up children with reports of alcohol use by the mother, considering the impact of these disorders on these individuals' global development, including daily life activities and schooling.

Síndrome Alcoólica Fetal ? recorrência em duas gerações de uma família / Fetal Alcohol Syndrome ? recurrence in two generations of a family

Objetivos: descrever um caso de recorrência da Síndrome Alcoólica Fetal em duas gerações de uma família brasileira. Descrição do caso: uma paciente de 24 anos, filha de mãe alcoólatra, foi adotada ainda no período neonatal e teve diagnóstico confirmado de Síndrome Alcoólica Fetal. A paciente começou a consumir bebidas alcoólicas durante a adolescência, mantendo o etilismo durante a primeira e segunda gestação, com ambos os conceptos apresentando Síndrome Alcoólica Fetal ao nascimento. Na terceira gestação, não houve ingestão de bebidas alcoólicas, nascendo uma menina não acometida pela síndrome. Todos os indivíduos acometidos preenchem os critérios diagnósticos: exposição pré-natal ao álcool, dismorfismo crânio-facial, deficiência de crescimento (baixa estatura) e acometimento do sistema nervoso central.Conclusões: apesar da recorrência de Síndrome Alcoólica Fetal ser relativamente frequente entre irmãos e estar bem documentada na literatura, a recorrência familial em indivíduos de duas gerações (como mãe-filhos) é rara. Sendo uma síndrome evitável, há necessidade de intervenção multiprofissional e interdisciplinar na prevenção da mesma, atuando não apenas nos grupos de risco, como mulheres alcoólatras, mas também em mulheres jovens, etilistas sociais e com vida sexual ativa, conscientizando-as sobre os possíveis efeitos da exposição ao álcool na gestação.

Aims: To report a case of recurrence of fetal alcohol syndrome in two generations of a brazilian family. Case description: A 24-year old female, daughter of an alcohol addicted woman, was adopted during neonatal period, and had fetal alcohol syndrome diagnosis confirmed. She started alcohol consumption during her adolescence and had alcohol exposure during her first and second pregnancies, with both newborns showing signs of fetal alcohol syndrome at birth. In her third pregnancy, there was no alcohol exposure and she gave birth to a non-affected daughter. All affected patients fulfill the diagnosis criteria: alcohol pre-natal exposure, cranio-facial dysmorphism, growth retardation (short stature) and central nervous system involvement.Conclusions: Although the recurrence in fetal alcohol syndrome is quite common among siblings and has been well documented in literature, the recurrence in relatives from different generations, such as mother-child occurrence, is rare. Given that this is a preventable syndrome, it is important to implement an interdisciplinary approach, not only for groups with risk factors, but educating women in general about the deleterious effects of alcohol ingestion during pregnancy.

Fetal alcohol spectrum disorder(FASD).

Fetal alcohol syndrome (FAS)is the leading cause of mental retardation worldwide but is also the foremost preventable cause of neurobehavioral and developmental abnormalities. It is equally important to know spectrum of disorders due to maternal alcoholism during pregnancy such as Fetal alcohol spectrum disorder (FASD)in order to identify and treat affected child and family effectively.This article aims to create awareness among practising clinicians most of whom are only aware of phenotypical variant of FASD which is FAS.In this article we discuss those aspects of FASD relevant to the clinician such as: terminological ambiguity, assessment, diagnosis and prevention.

Immunohistochemical study of acute effects of ethanol on midbrain of wistar rats associated with the date of birth of neurons in encephalon / Estudio inmunohistoquímico de los efectos agudos del etanol sobre el mesencéfalo de ratas wistar asociado con la fecha de formación de neuronas en el cerebro

The verification of the acute effects of ethanol on the midbrain, which neurons are mainly formed in E14, will ratify if the acute effects of ethanol are associated, in terms of prevalence, to the date of birth of neurons in certain regions of the brain. The aim of this study was to determine the effects of acute exposure to ethanol on the neuronal density of the midbrain and to associate these results with acute effects of ethanol in other regions of the brain under the same conditions. The rats were treated with intraperitoneal ethanol during one day (E12) and 1h after the last ethanol injection was applied to BrdU. The animals were sacrificed; the brains were removed and sectioned. The sections were treated with DAB for the BrdU revelation, the slides were stained with safranin for one group and another group was stained with H & E. The effects of acute injection of ethanol in E12 on the midbrain were not detected in this study. Data from literature suggest that the deleterious action of acute ethanol consumption only occur if the drug is injected at times near the beginning of the migration of neurons in that particular region of the brain.

La verificación de los efectos agudos del etanol sobre el mesencéfalo, cuyas neuronas se forman principalmente en la E14, puede ratificar si los efectos agudos del etanol están asociados, en términos de prevalencia, a la fecha de nacimiento de neuronas en ciertas regiones del cerebro. El objetivo de este estudio fue determinar los efectos de la exposición aguda al etanol sobre la densidad neuronal del mesencéfalo y asociar estos resultados con los efectos agudos de etanol en otras regiones del cerebro bajo las mismas condiciones. Las ratas fueron tratadas con etanol intraperitoneal durante un día (E12) y 1h después de la última inyección de etanol fue aplicado BrdU. Los animales fueron sacrificados, los cerebros fueron removidos y seccionados. Las secciones fueron tratados con DAB para la revelación de BrdU, las secciones fueron teñidas con safranina para un grupo y otro grupo se tiñeron con H&E. Los efectos agudos de la inyección de etanol en E12 sobre el mesencéfalo no fueron detectados en este estudio. Los datos de la literatura sugieren que los efectos deletéreos del consumo agudo de etanol sólo se producen si la droga se inyecta en etapas cercanas al comienzo de la migración de las neuronas en esa región particular del cerebro.

Proton magnetic resonance spectroscopy in children with fetal alcohol spectrum disorders / Espectroscopia por ressonância magnética de prótons em crianças com transtornos do espectro alcoólico fetal

OBJECTIVE: To analyze the metabolic constitution of brain areas through proton magnetic resonance spectroscopy in children affected with fetal alcohol spectrum disorder compared with normal children. METHOD: The sample of this case-control study included eight boys with epidemiologic history of in utero exposure to alcohol (median age 13.6±3.8 years) who were diagnosed with fetal alcohol spectrum disorder, and eight controls (median age 12.1±3,4 years). An 8 cm³ single voxel approach was used, with echo time 30 ms, repetition time 1500 ms, and 128 acquisitions in a 1.5T scanner, and four brain areas were analyzed: anterior cingulate, left frontal lobe, left striatum, and left cerebellar hemisphere. Peaks and ratios of metabolites N-acetylaspartate, choline, creatine, and myo-inositol were measured. RESULTS: Children with fetal alcohol spectrum disorder showed a decrease in choline/creatine ratio (p=0.020) in left striatum and an increase in myo-inositol/creatine ratio (p=0.048) in left cerebellum compared with controls. There was no statistically significant difference in all peaks and ratios from the anterior cingulate and frontal lobe between the two groups. CONCLUSION: This study found evidence that the left striatum and left cerebellum are affected by intrauterine exposure to alcohol. Additional studies with larger samples are necessary to expand our knowledge of the effects of fetal exposure to alcohol.

OBJETIVO: Analisar a composição metabólica de áreas encefálicas através da espectroscopia de prótons por ressonância magnética em crianças com transtornos do espectro alcoólico fetal e crianças normais. MÉTODO: A amostra deste estudo de casos-controles incluiu 8 meninos com história epidemiológica de exposição fetal ao álcool (idade mediana 13,6±3,8 anos), diagnosticados com transtorno do espectro alcoólico fetal, e 8 controles (idade mediana 12,1±3,4 anos). Utilizou-se voxel único de 8 cm³, tempo de eco 30 ms, tempo de repetição 1.500 ms, 128 aquisições, em scanner de 1,5T para as seguintes áreas: cíngulo anterior, lobo frontal esquerdo, estriado esquerdo e hemisfério cerebelar esquerdo. Estudaram-se os picos e as razões dos metabólitos N-acetilaspartato, colina, creatina e o mio-inositol. RESULTADOS: As crianças acometidas apresentaram diminuição da razão colina/creatina (p=0,020) no estriado esquerdo, e aumento da razão mio-inositol/creatina (p=0,048) no cerebelo esquerdo. Não houve diferença estatisticamente significativa nos valores encontrados no cíngulo anterior e lobo frontal entre os dois grupos. CONCLUSÃO: Este estudo encontrou evidências de que o estriado e o cerebelo esquerdos são acometidos pela exposição intra-uterina ao álcool. Estudos adicionais com amostras maiores são essenciais para expandir nosso conhecimento dos efeitos da exposição fetal ao álcool.