Trastorno del espectro alcohólico fetal: Un trastorno del neurodesarrollo infradiagnosticado y de pronóstico incierto / Fetal alcohol spectrum disorder. An underdiagnosed neuro-development disorder of uncertain prognosis

La exposición prenatal al alcohol es causa de alteraciones somáticas, cognitivas y conductuales que se agrupan bajo el término de trastorno del espectro alcohólico fetal (TEAF). La evolución a largo plazo de los sujetos afectados a menudo es desfavorable, especialmente a nivel académico y adaptativo social. En el perfil neuropsicológico es característica la disfunción ejecutiva a menudo asociada a trastornos de la conducta que evolucionan en muchos casos hacia la delincuencia a partir de la adolescencia y en la edad adulta. Se han descrito también déficits de las habilidades sociales y la empatía. La exposición prenatal al alcohol constituye la causa más frecuente de trastorno del neurodesarrollo adquirido y prevenible.

Prenatal exposure to alcohol is the cause of cognitive and behavioural disorders grouped under the term fetal alcohol spectrum disorders (FASD). The long-term evolution of subjects with FASD is often unfavourable, especially in social and academic fields. Executive dysfunction is a hallmark deficit for children with FASD with increased rates of externalizing behaviours, such as aggressiveness and frequently delinquency in adolescence and adulthood. Deficits in social skills, empathy and communication ability are frequent observed among FASD. Prenatal exposure to alcohol is the most frequent cause of acquired and preventable neurodevelopmental disorder.

Narrativa oral de indivíduos com Transtorno do Espectro Alcoólico Fetal / Oral narrative of individuals with Fetal Alcohol Spectrum Disorder

RESUMO Objetivo Investigar e comparar a narrativa oral de indivíduos com Transtorno do Espectro Alcoólico Fetal (TEAF) e de indivíduos com desenvolvimento típico de linguagem (DTL) e correlacionar o desempenho na narrativa oral com a pontuação do "4-Digit Diagnostic Code". Método Participaram 20 indivíduos com TEAF, de ambos os gêneros, com idade cronológica entre seis e 16 anos e 20 indivíduos com DTL, semelhantes quanto ao gênero, idade e nível socioeconômico aos do grupo TEAF. A narrativa oral foi eliciada por meio do livro "Frog, where are you?" e analisada quanto aos aspectos macroestruturais, microestruturais e nível de coerência global. Os aspectos macroestruturais incluíram elementos típicos de história e os microestruturais incluíram palavras (total, palavras diferentes), unidades comunicativas (C-Units), diversidade lexical e extensão média dos C-Units. Resultados Desempenho inferior foi encontrado para o grupo TEAF em todos os aspectos macroestruturais, exceto para os marcadores linguísticos. Dentre os aspectos microestruturais, a diversidade lexical e a ocorrência de "C-Units" incompletos foram aspectos que diferenciaram os grupos TEAF e DTL. O grupo TEAF apresentou nível de coerência global inferior ao grupo DTL. Correlações negativas foram encontradas entre os aspectos macroestruturais e os itens características faciais e alterações no Sistema Nervoso Central. Conclusão O uso restrito de elementos estruturais típicos de história com níveis inferiores de coerência e vocabulário reduzido diferenciaram o TEAF do DTL. Estudos futuros poderão explorar se a associação entre o desempenho narrativo e os itens do "4-Digit Diagnostic Code" apresentam valor preditivo no desempenho narrativo dos indivíduos com TEAF.

ABSTRACT Purpose To investigate and compare the oral narrative of individuals with FASD and individuals with typical language development (TLD), as well as to correlate the narrative performance with the score from 4-Digit Diagnostic Code. Methods Participants were 20 individuals with FASD, of both genders, with chronological age between 6 and 16 years, and 20 individuals with TLD, same gender and similar to the FASD group in age and socioeconomic status. The oral narrative was elicited using the book Frog, where are you? and the data were analyzed in terms of macrostructure, microstructure and global coherence level. Measures regarding the macrostructure included the presence of typical structural elements of storytelling, while the microstructural aspects included words (total and different words), communication units (C-Units), lexical diversity, and mean length of C-Units. Results Low performance was found in the FASD group for all macrostructural aspects, with the exception of linguistic markers. Among the microstructural aspects, lexical diversity and incomplete C-Units were different between the FASD and TLD groups. The FASD group presented lower global coherence level compared to the TLD group. Negative correlations were found between macrostructural aspects, facial characteristics, and Central Nervous System impairment. Conclusion Restricted use of typical structural elements of storytelling with lower levels of coherence and reduced vocabulary distinguished the FASD from the TDL group. Future studies may explore whether the association between narrative performance and the 4-Digit Diagnostic Code items present predictive values in the narrative performance of individuals with FASD.

Prevalencia de consumo de alcohol y percepción de riesgo en embarazadas de la Ciudad de Buenos Aires: 2016 / Prevalence of alcohol consumption and risk perception in pregnant women in the City of Buenos Aires: 2016

Los Trastornos del espectro alcohólico fetal (TEAF) son un grupo de trastornos y alteraciones, de gravedad variable, que ocurren en los hijos de madres que bebieron alcohol durante el embarazo, entre ellos se incluyen malformaciones físicas y alteraciones de conducta y de aprendizaje. El síndrome alcohólico fetal (SAF) representa el espectro grave del TEAF. La muerte fetal es el resultado de mayor gravedad. Los recién nacidos con SAF pueden tener malformaciones faciales características, alteraciones en el crecimiento, y del sistema nervioso central. Los niños con trastornos en el neurodesarrollo relacionado con el alcohol (TNDA) pueden tener discapacidades intelectuales y problemas de conducta y aprendizaje. En Argentina, el primer informe nacional de relevamiento epidemiológico del Sistema de Información Perinatal-Gestión del año 2013 revela que el 61,5% de los embarazos no son planificados, siendo esta cifra aún mayor en los embarazos adolescentes, razón por la cual el consumo de alcohol en mujeres en edad fértil aumenta el riesgo de afectación fetal por el alcohol. El objetivo general de esta investigación fue estimar la magnitud y la percepción de riesgo respecto al consumo de alcohol durante el embarazo en las mujeres que concurren a algún control en establecimientos del subsector público de salud durante su embarazo en la 3ª semana del mes de Agosto año 2016 con el propósito de aportar a los planes de prevención y disminuir los efectos del abuso de alcohol sobre el feto y el recién nacido. (AU)

Síndrome alcoólica fetal / Fetal alcoholic syndrome

A autora aborda o atualíssimo tema da síndrome alcoólica fetal (SAF), destacando sua importância e elevada incidência, os níveis e terminologia aplicados ao consumo de álcool, a questão do alcoolismo materno e de seus efeitos sobre o feto e o RN, características clínicas da SAF, diagnóstico clínico e diferencial, aleitamento materno, seguimento e tratamento dos casos, custos, prevenção e conhecimento dos pediatras sobre a síndrome.

A propósito de un caso de síndrome fetal alcohólico / With regard a case of alcoholic fetal syndrome

Se presenta el caso de un varón de tres años de edad, que fue remitido a la consulta de genética por la especialista de oftalmología. Acudió a consulta por ptosis palpebral y después de la valoración exhaustiva se detectó un cuadro complejo, con multiplicidad de alteraciones oftalmológicas por lo que se decidió la remisión. Después de la investigación correspondiente, se constataron alteraciones funcionales y anatómicas, tanto durante su desarrollo prenatal como postnatal, que permitieron concluir que se trataba de un síndrome fetal alcohólico, previo diagnóstico diferencial con otras enfermedades

This is the case of a male aged three years referred to genetics consultation by an ophthalmology specialist. He came to consultation due to palpebral ptosis and after an exhaustive assessment it was detected a complicated picture with many ophthalmologic alterations thus authors decide the remission. After corresponding research, functional and anatomical alterations were confirmed during its development and in postnatal status allowed us to conclude that it was an alcoholic fetal syndrome, previous differential diagnosis with other diseases

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...

Criterios diagnósticos del síndrome alcohólico fetal y los trastornos del espectro del alcoholismo fetal / Diagnostic criteria for fetal alcohol syndrome and fetal alcohol spectrum disorders

En nuestro medio, el alcoholismo materno-fetal es un hecho casi ignorado como importante factor en la génesis de un amplio espectro de enfermedades neuropsiquiátricas del niño, el adolescente y el adulto. Los hijos de madres alcohólicas pueden presentar desde un retraso mental profundo hasta una normalidad aparente, pasando por cuadros de epilepsia, déficit de atención con/sin hiperactividad, autismoy trastorno generalizado del desarrollo, y varios tipos de trastornos del aprendizaje. En la adolescencia pueden desarrollar varios tipos de trastornos de la personalidad y adicciones a drogas. Finalmente, en la adultez, pueden presentar diferentes tipos de psicosis y trastornos afectivos, entre otros. Un gran número de estos hijos de madres alcohólicas no logran desarrollar completamente su potencialidad mental y social como individuos plenamente libres. Con frecuencia, padecen diferentes déficit cognitivos, atencionales, mnésicos y afectivos. No raramente se ven involucrados en conductas antisociales o tienen problemas escolares y laborales. En este trabajo se revisan las clasificaciones clínicas y los criterios diagnósticos en uso sobre los trastornos que surgen de la exposición prenatal al etanol; su finalidad es llamar la atención a la comunidad médica pediátrica y neuropsiquiátrica acerca de la frecuencia creciente de estos trastornos, subdiagnosticados en nuestro país.

Fetal alcohol spectrum disorder.

BACKGROUND: Maternal alcohol use during pregnancy leads to fetal alcohol spectrum disorder (FASD) in their children. FASD is characterized by typical facial features, growth retardation, intellectual dysfunction and behavioral problems. JUSTIFICATION: Alcohol is neurotoxic to the brain during the developmental stage. Behavioral problems in children with FASD start at an early age and progress to adulthood. It is an important preventable cause of intellectual dysfunction and behavioral problems. This article reviews current prevalence, clinical features, pathogenesis and differential diagnosis of FASD. It also highlights the need for physicians to be aware of this condition. SEARCH STRATEGY: Articles were searched on the internet using fetal alcohol syndrome, fetal alcohol spectrum disorders, women and alcohol. Following links were used to locate journals; EBSCO, OVID, Science Direct, PubMed and NIAAA. MAIN CONCLUSIONS: Alcohol consumption during pregnancy can lead to a spectrum of deficits. Though physical features are essential to make the diagnosis of FAS, it is important to note that neurocognitive and behavioural deficits can be present in the absence of physical features (alcohol related neurodevelopmental disorder or ARND). Because there is no known safe amount of alcohol consumption during pregnancy, abstinence from alcohol for women who are pregnant or planning a pregnancy must be strongly advised.

An analysis of the teratagenic effects that could possibly be due to alcohol consumption by pregnant mothers.

It can be concluded that alcohol is definitely harmful to the developing fetus. The effect can manifest in various ways, the most extreme of which is a condition called Fetal Alcohol Syndrome (FAS). The diagnosis of maternal alcoholism leading onto cases of FAS is difficult due to absence of accurate diagnostic tests. The diagnosis of FAS in a child is easier by a proper examination. There is no specific treatment of FAS in a child. The only management is by institution of corrective and rehabilitative measures. The exact mechanism of the teratogenic action of alcohol is not known. It is probably due to the harmful effect of alcohol on the epiblast layer of the bilaminar germ disc. In the absence of adequate knowledge regarding FAS, not much can be done to remedy the deleterious effects of alcohol. Hence, a word of advice to all pregnant women is to avoid drinking during pregnancy.

Consumo de álcool e gravidez: riscos decorrentes desta associaçäo / Alcohol consumption and pregnancy: risks current of the association

A associação entre o consumo de álcool durante a gestação e o aumento da incidência de efeitos embriofetóxicos tem sido bem estabelecida, sendo a Síndrome Alcoólica Fetal (SAF) a manifestação mais severa deste efeito. Esta síndrome, em recém nascidos expostos intra uterinamente ao álcool, é caracterizada pela presença de malformações, craniofaciais, retardo no crescimento e no desenvolvimento mental. As estimativas de ocorrência da SAF variam consideravelmente e oscilam entre 0,4 a 3,1 casos por 100 nascimentos, sendo esta incidência significativamente maior entre as mulheres alcoolistas (30 a 40 por cento). A quantidade mínima de álcool ingerida capaz de afetar o concepto, assim como os mecanismos pelos quais o álcool exerce sua ação embriofetóxica ainda não estão bem elucidados, porém diversos estudos têm contribuído para o entendimento destas importantes questões. O objetivo deste trabalho consiste em descrever os efeitos teratogênicos do álcool em humanos e esclarecer sobre as formas de exposição, a ocorrência, os mecanismos de ação e as características clínicas, revisadas recentemente da literatura.

Sindrome de alcoholismo fetal y efectos del alcohol sobre el feto: importancia del diagnóstico precoz y del manejo nutricional / Fetal alcohol syndrome and fetal alcohol effects among children in a secondary nutritional recovery centre

Background: Fetal alcohol syndrome (FAS) and fetal alcohol effects (FAE) encompass a pattern of birth defects in persons whose mothers ingested alcohol during pregnancy. People with FAE display fewer of the FAS traits. Aim: To assess the prevalence and features of these affections in a secondary nutritional recovery centre. Patients and methods: All charts of children admitted between 1985 and 1995 were reviewed, and those children diagnosed as having a FAS or FAE by a geneticist were considered for this study. Birth, maternal, social and economic characteristics, psychomotor abilities (using Denver test) and response to nutritional treatment were assessed. Results: During the study period, 1572 infants were admitted to the centre, and 1.97 percent (70 percent female) were diagnosed as having a FAS or FAE. These infants were admitted at 11.1 ñ 4.5 months of age and discharged after 96.7 ñ 58.1 months of hospitalisation. Mean mother's age was 33 ñ 7 years, and all belonged to low socioeconomic levels. Mean birth weight was 2048 ñ 431 g and 2469 ñ 619 g in children with FAS and FAE respectively (p< 0.03). Children with FAE performed better for gross and fine motor abilities than those with FAS. No differences were observed for language performance. Sixty five percent of children with FAS and 71 percent of children with FAE had an adequate weight and height increment during nutritional therapy. A multiple regression analysis showed that age at admission and gestational age were significant predictors of weight gain during therapy. Conclusions: Alcohol has teratogenic effects on the foetus that affect craneal size and psychomotor development. Alcohol also affects pre and post natal growth

Maternal substance abuse.

The epidemic of substance abuse, which has swept through much of the world, has left behind a trail of devastated lives and families. Alcohol and substance abuse by women during pregnancy has also been reported to be widespread and can affect the unborn fetus with the potential for life-long disabilities. While the magnitude of the perinatal substance abuse has been the focus of much discussion in the West, the problem is greatly underestimated in other parts of the world. In this article, the author has focused on five highly-abused substances and explored the effects of the drugs on the fetus and the newborn. There is a constant need for evaluating the epidemiology and the consequences of perinatal substance abuse so that health programs can target measures to eliminate the preventable morbidity that results from this practice.

Síndrome de alcohol fetal: presentación de un caso y revisión / Fetal alcohol syndrome: case presentation and review

Los agentes ambientales que producen alteraciones en el desarrollo embrionario y/o fetal se denominan teratógenos. Tales agentes se conocen desde ya varias décadas y la cantidad de estos crece cada día en la medida en que nacen niños con diferentes tipos de anomalías, pueden ser de tipo infeccioso, químico y físico y su mecanismo de acción en tal sentido aún no es muy bien conocido. Los efectos producidos sobre el embrión y/o el feto en desarrollo por el consumo materno de alcohol durante la gestación, se conocen desde 1980. Se presenta en éste artículo un caso clínico típico con retraso en el crecimiento pre y post natal, retraso psicomotor y un patrón de anomalías físicas que coinciden con los defectos que se han descrito secundarios al consumo de alcohol por la madre durante la gestación, antecedente que también definitivamente apoya este patrón de anomalías en nuestro paciente. Igualmente se presenta una breve revisión actualizada sobre este tema