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1.
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
2.
PLoS One ; 19(4): e0301615, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38568995

RESUMO

This study investigated the diagnostic capacity for Fetal Alcohol Spectrum Disorder (FASD) in multidisciplinary clinics across several provincial and one territorial jurisdictions of Canada: Alberta, British Columbia, Manitoba, Ontario and Northwest Territories. The data were collected directly from clinics capable of providing diagnoses of FASD and examined annual capacity for the assessment and diagnosis of FASD per year from 2015 to 2019. In total, 58 FASD diagnostic clinics were identified and 33 clinics participated in this survey. The study identified inadequate FASD diagnostic capacity in all participating jurisdictions. Based on the findings and the current population sizes, it is estimated that 98% of individuals with FASD are undiagnosed or misdiagnosed in Canada. Wait times for FASD diagnosis ranged from 1 month to 4.5 years across participating jurisdictions. The annual FASD diagnostic capacity in the select provinces and territories require at least a 67-fold increase per year.


Assuntos
Transtornos do Espectro Alcoólico Fetal , Gravidez , Feminino , Humanos , Transtornos do Espectro Alcoólico Fetal/diagnóstico , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Alberta/epidemiologia , Ontário/epidemiologia , Colúmbia Britânica , Manitoba
3.
BMC Pregnancy Childbirth ; 24(1): 246, 2024 Apr 06.
Artigo em Inglês | MEDLINE | ID: mdl-38582887

RESUMO

INTRODUCTION: Drinking during pregnancy is the leading cause of birth defects and child developmental disorders in Europe. The adverse effects of drinking during pregnancy may include physical, behavioural and cognitive problems, known collectively as fetal alcohol spectrum disorders (FASD). Evidence-based comprehensive recommendations at the European level on how to implement preventive and treatment policies to reduce alcohol-exposed pregnancies are needed. FAR SEAS, a tendered service contract (number 20,187,106) awarded by the European Commission, aimed at developing guidelines to respond to this knowledge gap. METHODS: FAR SEAS recommendations were built on (1) a two-phase review of interventions, (2) an international expert consultation, and (3) a pilot study on prevention of FASD conducted in the Mazovia region of Poland. The review of interventions included nineteen electronic open access databases, several repositories of grey literature and a key informant consultation covering most European Union (EU) countries and an additional guidelines search. After triangulating sources, 94 records were collected. Experts contributed in the design of the research questions, addressing the gaps in the literature and reviewing the recommendations formulated. The Polish pilot added nuances from real world practice to the formulated recommendations, resulting in the final set of guidelines for dissemination. RESULTS: The FAR SEAS Guidelines comprise 23 recommendations grouped into different topics areas of policies, communication strategies, screening, brief intervention and referral to treatment, treatment and social services. The recommendations highlight the need to respect women's autonomy and avoid discrimination and stigmatization; using universal screening for women of childbearing age, including detection of other psychosocial risks (such as domestic violence); and individualized, comprehensive and multidisciplinary supportive interventions for those who require it, such as those with alcohol use disorders, including women's partners. Policies to prevent FASD should be multicomponent, and public health communication should combine information about the risks together with self-efficacy messages to promote changes. CONCLUSIONS: The FAR SEAS guidelines are a tool to support policy-makers and service managers in implementing effective programmes to reduce prenatal alcohol exposure among general and at-risk population groups. FASD prevention has to involve comprehensive and multi-level evidence-based policies and practice, with services and activities tailored to the needs of women at differing levels of risk, and with due attention to reducing stigma.


Assuntos
Alcoolismo , Transtornos do Espectro Alcoólico Fetal , Efeitos Tardios da Exposição Pré-Natal , Feminino , Humanos , Gravidez , Consumo de Bebidas Alcoólicas/efeitos adversos , Consumo de Bebidas Alcoólicas/prevenção & controle , Europa (Continente) , Transtornos do Espectro Alcoólico Fetal/prevenção & controle , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Oceanos e Mares , Projetos Piloto , Efeitos Tardios da Exposição Pré-Natal/epidemiologia
4.
Artigo em Inglês | MEDLINE | ID: mdl-38432776

RESUMO

DNA alterations in gametes, which may occur either spontaneously or as a result of exposure to genotoxicants, can lead to constitutional chromosomal anomalies in the offspring. Alcohol is an established genotoxicant. The goal of this hypothesis-testing longitudinal cohort study was to evaluate the effect of significant/sustained maternal alcohol exposure on clinically diagnosed constitutional chromosomal anomalies among children diagnosed with fetal alcohol syndrome (FAS). De-identified eligibility and claim healthcare records, prospectively generated from the 1990-2012 Florida Medicaid system within the Independent Healthcare Research Database (IHRD), were analyzed. Children examined were continuously eligible with ≥ 8 outpatient office visits during the 96-month period following birth. Among these children, 377 were diagnosed with FAS and 137,135 were not. The incidence rate of chromosomal anomalies involving segregation (trisomy 13, 18, or 21, n = 625), microdeletions (microdeletion syndromes, n = 39), and point mutations (sickle-cell anemia/cystic fibrosis, n = 2570) were examined using frequency risk ratio (RR) and logistic regression (adjusted odds ratio (aOR) for sex, race, residence, socioeconomic/environmental exposure status, and birth date) models. The incidence rates of chromosomal anomalies involving segregation (RR=5.92, aOR=5.85) and microdeletions (RR=41.6, aOR=34.1) were significantly increased in the FAS cohort as compared to the non-diagnosed cohort, but there was no difference in the incidence rate of point mutations (RR=1.14, aOR=1.29). Maternal toxicant exposure should be considered in the etiology of constitutional chromosomal anomaly in offspring.


Assuntos
Transtornos Cromossômicos , Transtornos do Espectro Alcoólico Fetal , Criança , Estados Unidos , Feminino , Gravidez , Humanos , Estudos Longitudinais , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Transtornos do Espectro Alcoólico Fetal/genética , Estudos de Coortes , Aberrações Cromossômicas
5.
Addiction ; 119(5): 855-862, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38408750

RESUMO

BACKGROUND AND AIMS: Quantifying the health burden of alcohol has largely focused upon harm to drinkers, which is an underestimate. There is a growing literature on alcohol's harm to others (HTO), but it lacks the systematic transfer of HTO into a comparative risk assessment framework. This study calculated disability-adjusted life years (DALYs) for fetal alcohol spectrum disorder (FASD), interpersonal violence and traffic injury due to another's drinking. DESIGN: This study is a disease burden analysis, using modelling of DALYs for New Zealand in 2018. SETTING AND PARTICIPANTS: The study took place among the Aotearoa/New Zealand population in 2018. MEASUREMENTS: The involvement of others' drinking was obtained from prevalence, alcohol-attributable fraction studies and administrative data. Disability weights (DW) for FASD were adapted from fetal alcohol syndrome (FAS) weights using a Beta-Pert probability distribution; for interpersonal injury, DWs used hospital events linked with injury compensation; for traffic injury, DWs used hospital events. Populations were stratified by ethnicity, age group and gender. A descriptive comparison was made with a previous estimate of DALYs for drinkers. FINDINGS: In 2018, 78 277 healthy life years were lost in Aotearoa/New Zealand due to alcohol's HTO. The main contributor (90.3%) was FASD, then traffic crashes (6.3%) and interpersonal violence (3.4%). The indigenous population, Maori, was impacted at a higher rate (DALYs among Maori were 25 per 1000 population; among non-Maori 15 per 1000 population). The burden of HTO was greater than that to drinkers (DALYs HTO = 78 277; DALYs drinkers = 60 174). CONCLUSIONS: Disability from fetal alcohol spectrum disorder (FASD) appears to be a major contributor to alcohol's harm to others in Aotearoa/New Zealand. Taking FASD into account, the health burden of harm to others is larger than harm to the drinker in Aotearoa/New Zealand, and ethnicity differences show inequity in harm to others. Quantification of the burden of harm informs the value of implementing effective alcohol policies and should include the full range of harms.


Assuntos
Consumo de Bebidas Alcoólicas , Transtornos do Espectro Alcoólico Fetal , Feminino , Gravidez , Humanos , Consumo de Bebidas Alcoólicas/epidemiologia , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Anos de Vida Ajustados pela Incapacidade , Nova Zelândia/epidemiologia , Povo Maori
6.
BMC Prim Care ; 25(1): 66, 2024 02 22.
Artigo em Inglês | MEDLINE | ID: mdl-38388880

RESUMO

BACKGROUND: Foetal alcohol spectrum disorder (FASD) is the leading preventable cause of nongenetic mental disability. Given the patient care pathway, the General Practitioner (GP) is in the front line of prevention and identification of FASD. Acknowledging the importance of the prevalence of FASD, general practitioners are in the front line both for the detection and diagnosis of FASD and for the message of prevention to women of childbearing age as well as for the follow-up. OBJECTIVES: The main objective of the scoping review was to propose a reference for interventions that can be implemented by a GP with women of childbearing age, their partners and patients with FASD. The final aim of this review is to contribute to the improvement of knowledge and quality of care of patients with FASD. METHODS: A scoping review was performed using databases of peer-reviewed articles following PRISMA guidelines. The search strategy was based on the selection and consultation of articles on five digital resources. The advanced search of these publications was established using the keywords for different variations of FASD: "fetal alcohol syndrome," "fetal alcohol spectrum disorder," "general medicine," "primary care," "primary care"; searched in French and English. RESULTS: Twenty-three articles meeting the search criteria were selected. The interventions of GPs in the management of patients with FASD are multiple: prevention, identification, diagnosis, follow-up, education, and the role of coordinator for patients, their families, and pregnant women and their partners. FASD seems still underdiagnosed. CONCLUSION: The interventions of GPs in the management of patients with FASD are comprehensive: prevention, identification, diagnosis, follow-up, education, and the role of coordinator for patients, their families, and pregnant women and their partners. Prevention interventions would decrease the incidence of FASD, thereby reducing the incidence of mental retardation, developmental delays, and social, educational and legal issues. A further study with a cluster randomized trial with a group of primary care practitioners trained in screening for alcohol use during pregnancy would be useful to measure the impact of training on the alcohol use of women of childbearing age and on the clinical status of their children.


Assuntos
Transtornos do Espectro Alcoólico Fetal , Clínicos Gerais , Criança , Humanos , Feminino , Gravidez , Transtornos do Espectro Alcoólico Fetal/diagnóstico , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Transtornos do Espectro Alcoólico Fetal/prevenção & controle , Consumo de Bebidas Alcoólicas/efeitos adversos , Consumo de Bebidas Alcoólicas/epidemiologia , Consumo de Bebidas Alcoólicas/prevenção & controle , Troca Materno-Fetal , Escolaridade , Ensaios Clínicos Controlados Aleatórios como Assunto
7.
Artigo em Inglês | MEDLINE | ID: mdl-38248547

RESUMO

The Strong Born Campaign (2022-2025) was launched by the National Aboriginal Community Controlled Health Organisation (NACCHO) in 2023. Strong Born is the first of its kind national Aboriginal and Torres Strait Islander health promotion campaign to address Fetal Alcohol Spectrum Disorder (FASD) within Australia. Strong Born was developed to address a longstanding, significant gap in health promotion and sector knowledge on FASD, a lifelong disability that can result from alcohol use during pregnancy. Utilizing a strengths-based and culturally sound approach, NACCHO worked closely with the Aboriginal Community Controlled Health Organisations (ACCHOs) to develop the campaign through co-design, as described in this paper. Since its inception, the ACCHOs have continually invested in driving change towards improvements in Aboriginal health determinants and health promotion. The Strong Born Campaign developed culturally safe health promotion tool kits designed for the community and health sector staff and also offered communities the opportunity to apply for FASD Communications and Engagement Grants to engage in local campaign promotion. The tool kits have been disseminated to 92 ACCHOs across Australia. This paper describes the development of the Strong Born Campaign and activities following its launch in February 2023 from an Indigenous context within Australia, as described by NACCHO.


Assuntos
Transtornos do Espectro Alcoólico Fetal , Promoção da Saúde , Serviços de Saúde do Indígena , Feminino , Humanos , Gravidez , Austrália , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Transtornos do Espectro Alcoólico Fetal/etnologia , Transtornos do Espectro Alcoólico Fetal/prevenção & controle , Saúde Pública , Recém-Nascido
8.
Res Dev Disabil ; 146: 104671, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38262190

RESUMO

BACKGROUND: Prenatal alcohol exposure (PAE) can disrupt children's neurodevelopment and exert lasting influences on overall child well-being and family functioning. A comprehensive exploration of developmental outcomes in infants/toddlers with PAE seen for a diagnosis on the fetal alcohol spectrum can inform early identification and intervention. AIMS: To describe the prevalence and patterns of neurodevelopment, sensory processing, and emotional and behavioral functioning in a clinical sample of infants/toddlers with PAE. METHODS: In this retrospective analysis, clinical data from 125 infants/toddlers with PAE, aged 2-42 months, assessed at the University of Washington Fetal Alcohol Syndrome Diagnostic and Prevention Network clinic were analyzed. RESULTS: Seventy-four to 87% of infants/toddlers demonstrated delayed development in one or more domains of the Bayley Scales of Infant and Toddler Development (n = 125). Adverse developmental outcomes were significantly correlated with PAE and/or postnatal risk factors. All 93 infants/toddlers with a complete Infant/Toddler Sensory Profile obtained definite difference scores in at least one quadrant/section. Over half of infant/toddlers with a completed Child Behavior Checklist/1½- 5 had total problem scores in the borderline or clinical range. CONCLUSIONS: Findings suggest that several domains of child functioning may be vulnerable to the teratogenic impact of PAE, and that these delays are evident in the first years of life. Early screening, ongoing monitoring and comprehensive assessment is needed to facilitate earlier identification and guide clinical intervention.


Assuntos
Transtornos do Espectro Alcoólico Fetal , Efeitos Tardios da Exposição Pré-Natal , Lactente , Humanos , Gravidez , Feminino , Pré-Escolar , Estudos Retrospectivos , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Efeitos Tardios da Exposição Pré-Natal/diagnóstico , Etanol/efeitos adversos , Transtornos do Espectro Alcoólico Fetal/diagnóstico , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Consumo de Bebidas Alcoólicas/efeitos adversos
9.
Eur J Med Genet ; 67: 104890, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38042254

RESUMO

OBJECTIVE: The diagnoses included within the umbrella term fetal alcohol spectrum disorders (FASD), are based on the documentation of prenatal alcohol exposure (PAE), growth deficits and a pattern of dysmorphic physical features and neurobehavioral impairments. Although 3 key facial features (short palpebral fissures, a smooth philtrum and a thin vermilion of the upper lip) are the only dysmorphic features taken into account for the diagnosis of Fetal Alcohol Syndrome (FAS) or partial FAS (pFAS), several other features are commonly seen in individuals with these diagnoses. The goals of our study were to determine if some of these secondary physical features also occur more frequently in children with alcohol-related neurodevelopmental disorder (ARND) relative to controls, and if a cluster of these features combined in a dysmorphology score could be used to identify those negatively impacted by PAE but who do not have the cardinal physical features that led to a diagnosis of FAS or pFAS. METHODS: Among 2681 children recruited for the Collaboration on Fetal Alcohol Spectrum Disorders Prevalence (CoFASP) study, 1726 had an FASD or sufficient evidence of PAE having occurred or not in their pregnancy. Children were then categorized into groups using the modified Hoyme diagnostic criteria (FAS (n = 24), pFAS (n = 99) and ARND (n = 87), and No FASD (n = 1516), including those with No FASD and a history of PAE (No FASD/PAE, n = 498) and those with No FASD and no history of PAE (No FASD/No PAE, n = 1018). The frequencies of 26 secondary dysmorphic features were compared among these groups, both individually and combined in non-weighted and weighted dysmorphic scores. Correlations of the total dysmorphic scores with an index of overall cognitive ability were also compared by group status. RESULTS: Several of these features were significantly more frequent in children with FAS than in those with No FASD diagnosis with or without PAE but not in comparison to those with ARND. The number of features was also significantly higher in the FAS group as compared to all other groups for both weighted and unweighted dysmorphology scores but were not higher in the group with ARND when compared to the groups with No FASD either in the presence or absence of PAE. Although not diagnostic, higher total dysmorphology scores were predictive of lower general cognitive abilities in the group with ARND, suggesting severity of alcohol-related dysmorphology is predictive of severity of alcohol-related neurobehavioral impairment. CONCLUSION: Secondary physical features were not more frequent in children with ARND compared to children without an FASD diagnosis but were a marker for lower cognitive function. The use of secondary physical features to support a diagnosis of ARND was not supported in this sample.


Assuntos
Transtornos do Espectro Alcoólico Fetal , Fluorocarbonos , Efeitos Tardios da Exposição Pré-Natal , Criança , Humanos , Feminino , Gravidez , Transtornos do Espectro Alcoólico Fetal/diagnóstico , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Consumo de Bebidas Alcoólicas/epidemiologia , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Cognição
10.
Birth Defects Res ; 116(1): e2259, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37828651

RESUMO

BACKGROUND: Fetal alcohol spectrum disorders (FASD) in a spectrum of neurodevelopmental conditions resulting from prenatal alcohol exposure (PAE). Animal models have confirmed the toxic effects of PAE on the kidneys and urinary tract, yet the evidence from human studies is contradictory. The purpose of this study was to establish the incidence of renal and urinary tract anomalies (RUTA), impaired kidney function, and hypertension among patients with FASD. METHODS: Children from the FASD Diagnostic Center with FASD diagnosis (FAS, pFAS, or ARND) were offered participation in the study. The control group consisted of patients from the Gastroenterology Department of the same hospital. The patients underwent renal and urinary tract ultrasound examination. The serum creatinine level was also evaluated and the blood pressure was taken twice. Polish OLAF charts were used to determine the percentiles of blood pressure. RESULTS: The incidence of kidney and urinary tract defects in the study group was significantly higher than in the control group (OR: 2.64 [1.60-4.34]). The kidney size among FASD patients was significantly lower (73 mm [60-83] vs. 83 mm [70-96]; p < .001) when compared to the control group. No differences were observed in the estimated glomerular filtration rate. In the study group, significantly lower systolic blood, diastolic blood pressure, percentile of systolic pressure, and diastolic pressure were observed. CONCLUSIONS: RUTA occurred more frequently among patients with FASD compared to the control group, and decreased kidney size was also demonstrated among patients with FASD. However, impaired kidney function and the risk of hypertension were not observed.


Assuntos
Transtornos do Espectro Alcoólico Fetal , Hipertensão , Efeitos Tardios da Exposição Pré-Natal , Criança , Humanos , Feminino , Gravidez , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Transtornos do Espectro Alcoólico Fetal/diagnóstico , Incidência , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Rim
11.
Reprod Toxicol ; 121: 108467, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37678653

RESUMO

Maternal dietary intake is likely a contributing factor to fetal alcohol spectrum disorders (FASD). Two, 24-hour dietary recalls were completed by pregnant women (n = 196) in South African communities with high rates of FASD. More than 50% of all women in this study were below the Estimated Average Requirement (EAR) for pregnancy for vitamins A, C, D, E, riboflavin, vitamin B6, folate, calcium, magnesium, iron, and zinc. More than 90% of mothers were below the Recommended Dietary Allowance (RDA) or Adequate Intake (AI) for pregnancy on vitamin A, K, D, E, choline, calcium, magnesium, zinc, and potassium. More than 80% were below RDA/AI for pantothenic acid, vitamin B6, and folate. Women who consumed alcohol reported significantly lower intake of calcium and three saturated fatty acids and significantly higher intake of two monounsaturated fatty acids. On average, infants were < 40th centile on length, weight, and head circumference at 6 weeks old, regardless of alcohol exposure. Twenty nutrients correlated with at least one measure of 1st trimester drinking (drinks per drinking day, number of drinking days per week, and/or total drinks per week). Nutrients included four saturated fatty acids, eight amino acids, calcium, B-complex vitamins, choline, and betaine. Calcium correlated with all three drinking measures. Further analyses revealed seven nutrients were associated with infant length, weight, and/or head circumference among unexposed infants, and 12 nutrients were associated among infants with prenatal alcohol exposure. Inadequate maternal dietary intake, with alcohol exposure, may increase risk for poor infant growth and likelihood of FASD in this population.


Assuntos
Transtornos do Espectro Alcoólico Fetal , Efeitos Tardios da Exposição Pré-Natal , Feminino , Humanos , Lactente , Gravidez , África do Sul/epidemiologia , Cálcio , Magnésio , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Ingestão de Alimentos , Dieta , Vitaminas , Colina , Vitamina A , Ácido Fólico , Etanol , Vitamina B 6 , Zinco , Ácidos Graxos
12.
Handb Clin Neurol ; 197: 197-204, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37633710

RESUMO

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.


Assuntos
Transtornos do Espectro Alcoólico Fetal , Efeitos Tardios da Exposição Pré-Natal , Feminino , Gravidez , Humanos , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Crime , Etanol , Encéfalo/diagnóstico por imagem
13.
Arch Dis Child ; 108(10): 852-856, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37451833

RESUMO

OBJECTIVE: To determine the incidence of fetal alcohol syndrome (FAS) in the UK in children aged 0-16 years. DESIGN: Active surveillance was undertaken through the British Paediatric Surveillance Unit between October 2018 and October 2019 inclusive. Data were collected from reporting clinicians using standardised questionnaires. PATIENTS: Children aged 0-16 years in the UK and Ireland with a diagnosis of FAS seen in the previous month. This study did not include children with fetal alcohol spectrum disorder. MAIN OUTCOME MEASURES: Demographic details (including age and ethnicity), details of exposure, growth parameters, neurological and cognitive diagnoses, and service usage. RESULTS: 148 notifications were received. After exclusions and withdrawals, there were 10 confirmed and 37 probable cases (analysed together). Just 24 of these children were newly diagnosed with FAS during the surveillance period, giving an estimated incidence rate of 3.4/100 000 live births (95% CI 2.2 to 5.0); their median age at diagnosis was just over 5 years and they were diagnosed between 3 months and 14 years 3 months of age. CONCLUSIONS: The estimated incidence rate of FAS is lower than reported by similar studies and there was a wide variation in the age that cases were diagnosed. This, combined with the fact that many cases were notified and then withdrawn or excluded, suggests that in the UK there is a lack of consistency and certainty in diagnosing FAS. The study findings strongly support the need to educate key professionals involved in the care of infants and children at risk of FAS.


Assuntos
Transtornos do Espectro Alcoólico Fetal , Lactente , Criança , Gravidez , Feminino , Humanos , Transtornos do Espectro Alcoólico Fetal/diagnóstico , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Etnicidade , Irlanda/epidemiologia , Vigilância da População , Reino Unido/epidemiologia
14.
Birth Defects Res ; 115(13): 1208-1215, 2023 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-37461259

RESUMO

BACKGROUND: Previous studies demonstrated that children with Fetal Alcohol Spectrum Disorders (FASD) are more likely to have vision impairments. However, existing human clinical and epidemiological investigations are few and include limited sample sizes. This study aimed to explore the association between ophthalmologic abnormalities and FASD in a sample of 5-7 year old children in the general population. METHODS: This was a cross-sectional study nested in a larger study intended to estimate the prevalence of FASD in San Diego, California, conducted between 2012 and 2014. Prenatal exposure to alcohol, dysmorphology examinations, and a neurobehavioral testing battery were collected for each child and an FASD diagnosis was assigned. Parents of participating children were asked to release their child's vision screening or diagnostic records. RESULTS: Vision records were obtained for 424 participants in the larger prevalence study. Of these, 53 children were classified as having FASD. A statistically significant association was found between FASD and a diagnosis of strabismus; 5/42 (11.9%) of children who were classified as having FASD had strabismus compared to 6/290 (2.1%) of children who were not classified as having FASD (p = .01). All five cases of strabismus in the FASD group occurred in 19 children classified as having partial fetal alcohol syndrome (pFAS). No association was found between FASD and vision impairment (p = .23), refractive errors (p = .66), glasses/contact lens prescription (p = .30), or having one or more ophthalmological abnormalities (p = .97). CONCLUSIONS: An association between strabismus and FASD, specifically partial FAS, suggests that the effect of alcohol exposure on risk of strabismus must be severe enough to result in facial features consistent with FASD. This emphasizes the importance of vision screening in children with FASD.


Assuntos
Transtornos do Espectro Alcoólico Fetal , Estrabismo , Feminino , Gravidez , Humanos , Criança , Pré-Escolar , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Transtornos do Espectro Alcoólico Fetal/etiologia , Transtornos do Espectro Alcoólico Fetal/diagnóstico , Estudos Transversais , Consumo de Bebidas Alcoólicas/epidemiologia , Testes Neuropsicológicos , Estrabismo/epidemiologia , Estrabismo/etiologia
15.
J Med Internet Res ; 25: e45041, 2023 07 18.
Artigo em Inglês | MEDLINE | ID: mdl-37463016

RESUMO

BACKGROUND: Fetal alcohol syndrome (FAS) is a lifelong developmental disability that occurs among individuals with prenatal alcohol exposure (PAE). With improved prediction models, FAS can be diagnosed or treated early, if not completely prevented. OBJECTIVE: In this study, we sought to compare different machine learning algorithms and their FAS predictive performance among women who consumed alcohol during pregnancy. We also aimed to identify which variables (eg, timing of exposure to alcohol during pregnancy and type of alcohol consumed) were most influential in generating an accurate model. METHODS: Data from the collaborative initiative on fetal alcohol spectrum disorders from 2007 to 2017 were used to gather information about 595 women who consumed alcohol during pregnancy at 5 hospital sites around the United States. To obtain information about PAE, questionnaires or in-person interviews, as well as reviews of medical, legal, or social service records were used to gather information about alcohol consumption. Four different machine learning algorithms (logistic regression, XGBoost, light gradient-boosting machine, and CatBoost) were trained to predict the prevalence of FAS at birth, and model performance was measured by analyzing the area under the receiver operating characteristics curve (AUROC). Of the total cases, 80% were randomly selected for training, while 20% remained as test data sets for predicting FAS. Feature importance was also analyzed using Shapley values for the best-performing algorithm. RESULTS: Overall, there were 20 cases of FAS within a total population of 595 individuals with PAE. Most of the drinking occurred in the first trimester only (n=491) or throughout all 3 trimesters (n=95); however, there were also reports of drinking in the first and second trimesters only (n=8), and 1 case of drinking in the third trimester only (n=1). The CatBoost method delivered the best performance in terms of AUROC (0.92) and area under the precision-recall curve (AUPRC 0.51), followed by the logistic regression method (AUROC 0.90; AUPRC 0.59), the light gradient-boosting machine (AUROC 0.89; AUPRC 0.52), and XGBoost (AUROC 0.86; AURPC 0.45). Shapley values in the CatBoost model revealed that 12 variables were considered important in FAS prediction, with drinking throughout all 3 trimesters of pregnancy, maternal age, race, and type of alcoholic beverage consumed (eg, beer, wine, or liquor) scoring highly in overall feature importance. For most predictive measures, the best performance was obtained by the CatBoost algorithm, with an AUROC of 0.92, precision of 0.50, specificity of 0.29, F1 score of 0.29, and accuracy of 0.96. CONCLUSIONS: Machine learning algorithms were able to identify FAS risk with a prediction performance higher than that of previous models among pregnant drinkers. For small training sets, which are common with FAS, boosting mechanisms like CatBoost may help alleviate certain problems associated with data imbalances and difficulties in optimization or generalization.


Assuntos
Transtornos do Espectro Alcoólico Fetal , Efeitos Tardios da Exposição Pré-Natal , Recém-Nascido , Humanos , Feminino , Gravidez , Transtornos do Espectro Alcoólico Fetal/diagnóstico , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Estudos Retrospectivos , Aprendizado de Máquina , Modelos Logísticos , Etanol
16.
J Dev Behav Pediatr ; 44(7): e463-e469, 2023 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-37459379

RESUMO

OBJECTIVE: Motor skill assessment is part of the fetal alcohol spectrum disorder (FASD) multidisciplinary assessment. Some clinicians opt to exclude assessment of the subcomponents of visual-motor integration (visual perception and motor coordination), on the assumption that challenges will be revealed based on the assessment of visual-motor integration. The objective is to describe the visual-motor integration, visual perception, and fine motor coordination pattern of abilities in children with confirmed prenatal alcohol exposure being assessed for fetal alcohol spectrum disorder. METHODS: This cross-sectional study included 91 children (65 males; mean age: 10 years, 6 months SD = 2 years, 10 months) undergoing assessment for FASD. Friedman and Wilcoxon statistics were used to compare mean visual-motor integration, visual perception, and fine motor coordination percentiles from the Beery-Buktenica Developmental Test of Visual-Motor Integration, Sixth Edition (Beery-6). RESULTS: Children being assessed for FASD (n = 91) had the highest normative scores in visual perception, followed by visual-motor integration and fine motor coordination (mean percentiles (SD): 35.9 (24.9), 20.6 (18.3), and 13.8 (15.5), respectively) (χ 2 distribution = 46.909, p ≤ 0.001). CONCLUSION: Children being assessed for FASD experience more challenges with fine motor coordination compared with visual-motor integration and visual perception tasks. This pattern differs from the pattern established for the general population in which tasks that require visual-motor integration are more challenging than tasks that isolate visual perception and fine motor coordination. These results suggest that fine motor coordination should be included in FASD diagnostic assessments and considered as an area for intervention.


Assuntos
Transtornos do Espectro Alcoólico Fetal , Efeitos Tardios da Exposição Pré-Natal , Masculino , Humanos , Criança , Feminino , Gravidez , Transtornos do Espectro Alcoólico Fetal/diagnóstico , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Estudos Transversais , Efeitos Tardios da Exposição Pré-Natal/diagnóstico , Destreza Motora , Percepção Visual
17.
Alcohol Res ; 43(1): 02, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37114249

RESUMO

PURPOSE: This narrative review summarizes and synthesizes the clinical trials and randomized clinical trials that evaluated selected and targeted approaches to reducing preconception and prenatal alcohol exposure (PAE) and alcohol-exposed pregnancy (AEP) since 2011. SEARCH METHODS: A professional hospital librarian completed the primary search using strategies specified within this review, resulting in 94 records returned in PubMed, Ovid MEDLINE, Clinical Key, the World Health Organization International Clinical Trials Registry Platform, and ClinicalTrials.gov. The author completed two supplementary literature searches. SEARCH RESULTS: From the total of 238 records returned from the three searches, 217 records were eliminated. Elimination reasons included other medical problem (119); duplicate entry (34); no content/results (23); secondary analysis (16); focus on effects of PAE (9); treatment of childhood fetal alcohol spectrum disorders (FASD) (6); maternal risk factors (3); and other (7). The remaining 21 studies were included with four overarching themes: (1) case management efforts (n = 4); (2) preconception efforts to reduce AEP (n = 5); (3) motivational interviewing and screening, brief intervention, and referral to treatment (n = 2); and (4) use of technology to deliver the intervention (n = 10). DISCUSSION AND CONCLUSIONS: Case management and home visits did not appear to have strong current empirical support. Study limitations included small sample sizes and no comparison groups, whereas larger efforts did not demonstrate definitive advantages to justify this intensive approach. The studies of preconception efforts, all based on the Project CHOICES approach, had similar outcomes, with the reduction in AEP risk largely due to improved contraception in women of childbearing age who were sexually active and drank alcohol but were not pregnant. It is unknown whether these women refrained from alcohol use when they became pregnant. Two studies of motivational interviewing to reduce prenatal alcohol use did not demonstrate the efficacy of the intervention. Both were small, with less than 200 pregnant women combined; moreover, the study samples had low baseline levels of alcohol use, allowing little opportunity for improvement. Finally, studies evaluating the impact of technological approaches to reducing AEP were reviewed. These exploratory investigations had small sample sizes and provided preliminary evaluations of techniques such as text messages, telephone contact, computer-based screening, and motivational interviewing. The potentially promising findings may inform future research and clinical efforts. Future directions may include research to address the limitations of the evidence to date and should reflect the complexities of FASD that include the biological and social context associated with prenatal alcohol use.


Assuntos
Transtornos do Espectro Alcoólico Fetal , Efeitos Tardios da Exposição Pré-Natal , Gravidez , Feminino , Humanos , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Transtornos do Espectro Alcoólico Fetal/prevenção & controle , Incidência , Anticoncepção , Consumo de Bebidas Alcoólicas/efeitos adversos , Consumo de Bebidas Alcoólicas/epidemiologia , Consumo de Bebidas Alcoólicas/prevenção & controle
18.
JMIR Public Health Surveill ; 9: e45358, 2023 04 21.
Artigo em Inglês | MEDLINE | ID: mdl-37083819

RESUMO

BACKGROUND: Alcohol consumption during pregnancy is associated with a range of adverse birth-related outcomes, including stillbirth, low birth weight, preterm birth, and fetal alcohol syndrome (FAS). With more than 10% of women consuming alcohol during pregnancy worldwide, it is increasingly important to understand how racial/ethnic variations affect FAS onset. However, whether race and ethnicity inform FAS risk assessment when daily ethanol intake is controlled for remains unknown. OBJECTIVE: This study aimed to assess racial/ethnic disparities in FAS risk associated with alcohol consumption during pregnancy. METHODS: We used data from a longitudinal cohort study (the Collaborative Initiative on Fetal Alcohol Spectrum Disorders) at 5 hospital sites around the United States of 595 women who consumed alcohol during pregnancy from 2007 to 2017. Questionnaires, in-person interviews, and reviews of medical, legal, and social service records were used to gather data on average alcoholic content (AAC) during pregnancy. Self-reports of maternal race (American Indian/Alaska Native [AI/AN], Asian, Native Hawaiian or other Pacific Islander, Black or African American, White, more than one race, and other) and ethnicity (Hispanic/Latino or not Hispanic/Latino), as well as FAS diagnoses based on standardized dysmorphological criteria, were used for analysis. Log-binomial regression was used to examine the risk of FAS associated with each 1-gram increase in ethanol consumption during pregnancy, stratified by race/ethnicity. RESULTS: A total of 3.4% (20/595) of women who reported consuming alcohol during pregnancy gave birth to a baby with FAS. Women who gave birth to a baby with FAS had a mean AAC of 32.06 (SD 9.09) grams, which was higher than that of women who did not give birth to a baby with FAS (mean 12.07, SD 15.87 grams). AI/AN mothers with FAS babies had the highest AAC (mean 42.62, SD 8.35 grams), followed by White (mean 30.13, SD 4.88 grams) and Black mothers (mean 27.05, SD 12.78 grams). White (prevalence ratio [PR] 1.10, 95% CI 1.03-1.19), Black (PR 1.13, 95% CI 1.04-1.23), and AI/AN (PR 1.10, 95% CI 1.00-1.21) mothers had 10% to 13% increased odds of giving birth to a baby with FAS given the same exposure to alcohol during pregnancy. Regardless of race, a 1-gram increase in AAC resulted in a 4% increase (PR 1.04, 95% CI 1.02-1.07) in the chance of giving birth to a baby with ≥2 facial anomalies (ie, short palpebral fissures, thin vermilion border of the upper lip, and smooth philtrum) and a 4% increase (PR 1.04, 95% CI 1.01-1.07) in the chance of deficient brain growth. CONCLUSIONS: The risk of delivering a baby with FAS was comparable among White, Black, and AI/AN women at similar levels of drinking during pregnancy. Regardless of race, a 1-gram increase in AAC resulted in increased odds of giving birth to a baby with facial anomalies or deficient brain growth.


Assuntos
Transtornos do Espectro Alcoólico Fetal , Complicações na Gravidez , Nascimento Prematuro , Lactente , Gravidez , Recém-Nascido , Feminino , Estados Unidos/epidemiologia , Humanos , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Estudos Retrospectivos , Estudos Longitudinais , Estudos de Coortes , Consumo de Bebidas Alcoólicas/efeitos adversos , Consumo de Bebidas Alcoólicas/epidemiologia , Etanol , Brancos
19.
Alcohol Clin Exp Res (Hoboken) ; 47(3): 613-623, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36932990

RESUMO

BACKGROUND: Consideration of sex- and gender-related factors is critical for understanding and supporting health and wellbeing. Although both sex and gender influence people with developmental disabilities, there is relatively little research on these factors and their influences among individuals with fetal alcohol spectrum disorder (FASD), a complex neurodevelopmental disability impacting an estimated 4%-5% of the population. Understanding sex- and gender-related differences in FASD is needed to facilitate evidence-informed assessment, treatment planning, and advocacy. To begin unpacking these factors, we investigated sex-based differences in clinical presentation and experiences among individuals assessed for FASD across the lifespan. METHODS: We analyzed 2574 clinical records from 29 FASD diagnostic centers in Canada. Participants ranged in age from 1 to 61 years (mean 15.2 years), and more than half (58.3%) were male at birth. Study variables included participant demographics, physical indicators of prenatal alcohol exposure (PAE), neurodevelopmental impairment, FASD diagnosis, co-occurring physical and mental health diagnoses, and environmental adversity. RESULTS: There were no significant differences between males and females with respect to FASD diagnostic outcome or physical indicators of PAE. However, males experienced significantly more neurodevelopmental impairment. Females experienced higher rates of endocrine problems, anxiety, and depressive/mood disorders, whereas males had higher rates of attention deficit-hyperactivity disorder, conduct disorder, and oppositional defiant disorder. Adversity also differed by sex, with females experiencing higher rates of trauma and legal problems with victimization/custody, and males having more difficulties with school and offending/incarceration. Sex-based differences were most apparent in adolescents (13-17 years) and adults (≥25 years). CONCLUSIONS: Individuals with PAE/FASD experience notable sex-related differences in clinical presentation and experiences across the lifespan. Findings from this study should help to guide researchers, service providers, and policy makers to improve FASD screening, diagnosis, and intervention and better address the needs of individuals with PAE/FASD of all genders.


Assuntos
Transtornos do Espectro Alcoólico Fetal , Efeitos Tardios da Exposição Pré-Natal , Adulto , Adolescente , Recém-Nascido , Humanos , Masculino , Feminino , Gravidez , Lactente , Pré-Escolar , Criança , Adulto Jovem , Pessoa de Meia-Idade , Transtornos do Espectro Alcoólico Fetal/diagnóstico , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Transtornos do Espectro Alcoólico Fetal/psicologia , Efeitos Tardios da Exposição Pré-Natal/diagnóstico , Canadá/epidemiologia , Exame Físico , Afeto
20.
Ann Med ; 55(1): 926-945, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-36919586

RESUMO

BACKGROUND: Pregnant women participated in multifaceted case management (MCM) to prevent Fetal Alcohol Spectrum Disorders (FASD). METHODS: Women recruited from antenatal clinics for a longitudinal child development study were screened for alcohol use. Forty-four pregnant women were defined as high-risk drinkers on the Alcohol Use Disorder Identification Test (AUDIT) by an AUDIT score ≥8 and participated in 18 months of MCM to facilitate reduction or cessation of alcohol consumption. Forty-one women completed MCM. Fifty-five equally high-risk women who received standard antenatal care comprised the comparison/control group. Development in offspring was evaluated by a blinded interdisciplinary team of examiners through 5 years of age. RESULTS: At five years of age, more children (34%) of MCM participating women did not meet the criteria for FASD vs. non-MCM offspring (22%). Furthermore, a statistically significant (p = .01) lower proportion of MCM offspring (24%) was diagnosed with fetal alcohol syndrome (FAS) compared to controls (49%). Children of MCM participants had significantly (p < .05) better physical outcomes: lower total dysmorphology scores, larger head circumferences, longer palpebral fissures, and higher midfacial measurements. Neurodevelopment results showed mixed outcomes. While Bayley developmental scores indicated that MCM offspring were performing significantly worse on most domains through 18 months, group scores equalized and were not significantly different on Kaufman Assessment Battery neurobehavioral measures by five years. Regression analyses indicated that offspring of women who received standard antenatal care were associated with significantly more negative outcomes than MCM offspring: a diagnosis of FAS (OR = 3.2; 95% CI: 1.093-9.081), microcephaly (OR = 5.3; 95% CI: 2.1-13.5), head circumference ≤10th centile (OR = 4.3; 95%CI: 1.8-10.4), and short palpebral fissures (OR = 2.5; 95% CI: 1.0-5.8). CONCLUSION: At age five, proportionally fewer children of MCM participants qualified for a diagnosis of FAS, and proportionally more had physical outcomes indicating better prenatal brain development. Neurobehavioral indicators were not significantly different from controls by age five.KEY MESSAGESMultifaceted Case Management (MCM) was designed and employed for 18 months during the prenatal and immediate postpartum period to successfully meet multiple needs of women who had proven to be very high risk for birthing children with fetal alcohol spectrum disorders (FASD).Offspring of the women who participated in MCM were followed up through age five years and were found to have significantly better physical outcomes on multiple variables associated with fetal alcohol syndrome (FAS) and FASD, such as larger head circumferences and fewer minor anomalies, than those children born to equally at-risk women not receiving MCM.Fewer children of women receiving MCM were diagnosed with FASD than the offspring of equally-at-risk controls, and significantly (p = .01) fewer MCM offspring had FAS, the most severe FASD diagnosis.


Assuntos
Transtornos do Espectro Alcoólico Fetal , Humanos , Feminino , Criança , Gravidez , Lactente , Pré-Escolar , Transtornos do Espectro Alcoólico Fetal/diagnóstico , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Transtornos do Espectro Alcoólico Fetal/prevenção & controle , Administração de Caso , Consumo de Bebidas Alcoólicas/efeitos adversos , Consumo de Bebidas Alcoólicas/epidemiologia , Encéfalo
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