Two case reports of fetal alcohol syndrome: broadening into the spectrum of cardiac disease to personalize and to improve clinical assessment.

BACKGROUND: Fetal alcohol spectrum disorder (FASD) refers to a broad spectrum of disabilities, in infants and children, resulting from moderate to excessive prenatal alcohol exposure. Significant associations with alcohol exposure were already reported with congenital structural heart defects: i.e. ventricular septal defects, atrial septal defects, conotruncal defects. CASES PRESENTATION: We describe two cases of children with FASD, both admitted to the Center for Rare Diseases and Birth Defects of Policlinico Universitario Agostino Gemelli, in whom asymptomatic cardiac rhythm alterations were detected in absence of structural cardiovascular system anomalies or cardiac channelopathies. CONCLUSIONS: No other reports about cardiac rhythm anomalies in individuals affected by FASD are actually available from the literature. We would like to make an alert for clinician, given the possibility of finding anomalies of heart conduction and rhythm in children affected by FASD even without structural congenital heart disease.

Effects of posted point-of-sale warnings on alcohol consumption during pregnancy and on birth outcomes.

In 23 states and Washington D.C., alcohol retailers are required by law to post alcohol warning signs (AWS) that warn against the risks of drinking during pregnancy. Using the variation in the adoption of these laws across states and within states over time, I find a statistically significant reduction in prenatal alcohol use associated with AWS. I then use this plausibly exogenous change in drinking behavior to establish a causal link between prenatal alcohol exposure and birth outcomes. I find that AWS laws are associated with decreases in the odds of very low birth weight and very pre-term birth.

A Decision Tree to Identify Children Affected by Prenatal Alcohol Exposure.

OBJECTIVE: To develop and validate a hierarchical decision tree model that combines neurobehavioral and physical measures to identify children affected by prenatal alcohol exposure even when facial dysmorphology is not present. STUDY DESIGN: Data were collected as part of a multisite study across the US. The model was developed after we evaluated more than 1000 neurobehavioral and dysmorphology variables collected from 434 children (8-16 years of age) with prenatal alcohol exposure, with and without fetal alcohol syndrome, and nonexposed control subjects, with and without other clinically-relevant behavioral or cognitive concerns. The model subsequently was validated in an independent sample of 454 children in 2 age ranges (5-7 years or 10-16 years). In all analyses, the discriminatory ability of each model step was tested with logistic regression. Classification accuracies and positive and negative predictive values were calculated. RESULTS: The model consisted of variables from 4 measures (2 parent questionnaires, an IQ score, and a physical examination). Overall accuracy rates for both the development and validation samples met or exceeded our goal of 80% overall accuracy. CONCLUSIONS: The decision tree model distinguished children affected by prenatal alcohol exposure from nonexposed control subjects, including those with other behavioral concerns or conditions. Improving identification of this population will streamline access to clinical services, including multidisciplinary evaluation and treatment.

Fetal alcohol spectrum disorder: development of consensus referral criteria for specialist diagnostic assessment in Australia.

BACKGROUND: Fetal alcohol spectrum disorder (FASD) is known to be under-recognised in Australia. The use of standard methods to identify when to refer individuals who may have FASD for specialist assessment could help improve the identification of this disorder. The purpose of this study was to develop referral criteria for use in Australia. METHOD: An online survey about FASD screening and diagnosis in Australia, which included 23 statements describing criteria for referral for fetal alcohol syndrome (FAS) and FASD based on published recommendations for referral in North America, was sent to 139 health professionals who had expertise or involvement in FASD screening or diagnosis. Survey findings and published criteria for referral were subsequently reviewed by a panel of 14 investigators at a consensus development workshop where criteria for referral were developed. RESULTS: Among the 139 health professionals who were sent the survey, 103 (74%) responded, and 90 (65%) responded to the statements on criteria for referral. Over 80% of respondents agreed that referral for specialist evaluation should occur when there is evidence of significant prenatal alcohol exposure, defined as 7 or more standard drinks per week and at least 3 standard drinks on any one day, and more than 70% agreed with 13 of the 16 statements that described criteria for referral other than prenatal alcohol exposure. Workshop participants recommended five independent criteria for referral: confirmed significant prenatal alcohol exposure; microcephaly and confirmed prenatal alcohol exposure; 2 or more significant central nervous system (CNS) abnormalities and confirmed prenatal alcohol exposure; 3 characteristic FAS facial anomalies; and 1 characteristic FAS facial anomaly, growth deficit and 1 or more CNS abnormalities. CONCLUSION: Referral criteria recommended for use in Australia are similar to those recommended in North America. There is a need to develop resources to raise awareness of these criteria among health professionals and evaluate their feasibility, acceptability and capacity to improve the identification of FASD in Australia.

Performance measurement: a proposal to increase use of SBIRT and decrease alcohol consumption during pregnancy.

Alcohol consumption during pregnancy has negative implications for maternal and child health. Appropriate early universal Screening, Brief Intervention and Referral to Treatment (SBIRT) for pregnant women is necessary to identify women at risk and reduce the likelihood of continued drinking. Because SBIRT is not consistently used, the development and use of performance measures to assure implementation of SBIRT are key steps towards intervention and reduction of alcohol consumption during pregnancy. Practice guidelines provide ample support for specific instruments designed for SBIRT in prenatal care. An examination of existing performance measures related to alcohol consumption during pregnancy, however, reveals no comprehensive published performance measure designed to quantify the use of SBIRT for alcohol use in prenatal care. Process performance measures were developed that can determine the proportion of pregnant women who are screened during the course of prenatal care and the proportion of women requiring either brief intervention or referral to substance use disorder treatment who received those interventions. The measures require use of screening instruments validated for use with pregnant women. The two proposed measures would represent a significant step in efforts to assure appropriate intervention for women who drink during pregnancy, hold accountable providers who do not employ SBIRT, and provide a basis from which necessary systemic changes might occur. Pregnancy is a time when many women are motivated to stop drinking. That opportunity should be seized, with timely intervention offering assistance for pregnant women who have not stopped drinking of their own accord.

Alcohol use and pregnancy consensus clinical guidelines.

OBJECTIVE: to establish national standards of care for the screening and recording of alcohol use and counselling on alcohol use of women of child-bearing age and pregnant women based on the most up-to-date evidence. EVIDENCE: published literature was retrieved through searches of PubMed, CINAHL, and the Cochrane Library in May 2009 using appropriate controlled vocabulary (e.g., pregnancy complications, alcohol drinking, prenatal care) and key words (e.g., pregnancy, alcohol consumption, risk reduction). Results were restricted to literature published in the last five years with the following research designs: systematic reviews, randomized control trials/controlled clinical trials, and observational studies. There were no language restrictions. Searches were updated on a regular basis and incorporated in the guideline to May 2010. Grey (unpublished) literature was identified through searching the websites of health technology assessment (HTA) and HTA-related agencies, national and international medical specialty societies, clinical practice guideline collections, and clinical trial registries. Each article was screened for relevance and the full text acquired if determined to be relevant. The evidence obtained was reviewed and evaluated by the members of the Expert Workgroup established by the Society of Obstetricians and Gynaecologists of Canada. The quality of evidence was evaluated and recommendations were made according to guidelines developed by the Canadian Task Force on Preventive Health Care. VALUES: the quality of evidence was rated using the criteria described by the Canadian Task Force on Preventive Health Care (Table 1). SPONSOR: the Public Health Agency of Canada and the Society of Obstetricians and Gynaecologists of Canada. ENDORSEMENT: these consensus guidelines have been endorsed by the Association of Obstetricians and Gynecologists of Quebec; the Canadian Association of Midwives; the Canadian Association of Perinatal, Women's Health and Neonatal Nurses (CAPWHN); the College of Family Physicians of Canada; the Federation of Medical Women of Canada; the Society of Rural Physicians of Canada; and Motherisk. SUMMARY STATEMENTS: 1. There is evidence that alcohol consumption in pregnancy can cause fetal harm. (II-2) There is insufficient evidence regarding fetal safety or harm at low levels of alcohol consumption in pregnancy. (III) 2. There is insufficient evidence to define any threshold for low-level drinking in pregnancy. (III) 3. Abstinence is the prudent choice for a woman who is or might become pregnant. (III) 4. Intensive culture-, gender-, and family-appropriate interventions need to be available and accessible for women with problematic drinking and/or alcohol dependence. (II-2). RECOMMENDATIONS: 1. Universal screening for alcohol consumption should be done periodically for all pregnant women and women of child-bearing age. Ideally, at-risk drinking could be identified before pregnancy, allowing for change. (II-2B) 2. Health care providers should create a safe environment for women to report alcohol consumption. (III-A) 3. The public should be informed that alcohol screening and support for women at risk is part of routine women's health care. (III-A) 4. Health care providers should be aware of the risk factors associated with alcohol use in women of reproductive age. (III-B) 5. Brief interventions are effective and should be provided by health care providers for women with at-risk drinking. (II-2B) 6. If a woman continues to use alcohol during pregnancy, harm reduction/treatment strategies should be encouraged. (II-2B) 7. Pregnant women should be given priority access to withdrawal management and treatment. (III-A) 8. Health care providers should advise women that low-level consumption of alcohol in early pregnancy is not an indication for termination of pregnancy. (II-2A).

[Consequences for the newborn of alcohol consumption during pregnancy]. / Conséquences, pour l'enfant à naître, du maintien de la consommation d'alcool pendant la grossesse.

BACKGROUND: This paper aims at showing the immediate and long-term consequences affecting newborns whose mothers did not reduce or stop their consumption of alcohol when they were pregnant; these women were chosen among women who also used psychoactive substances. METHODS: A retrospective cohort was constituted of babies who were found to have been exposed in utero to one or more legal or illegal psychoactive substance(s) and who were born or hospitalized between 1999 and 2008 in a hospital near Paris. Among the cohort of 170 babies, 56 had mothers who had not modified their alcohol consumption when they were pregnant, 30 had mothers who had reduced their alcohol consumption, and 84 had mothers who declared having been abstinent. RESULTS: The babies born to mothers who did not modify their alcohol consumption when pregnant were more likely to be premature (30%) and hospitalized in the neonatology hospital unit (60.7%). They needed specific care for durations significantly longer than the babies exposed in utero to other psychoactive substances (P<0.005). They were more often diagnosed with fetal alcohol spectrum disorders (18%) and placed in a foster family (18%). CONCLUSION: Given the negative consequences on the babies born to mothers who do not modify their alcohol consumption when pregnant, these mothers should be identified and provided with better care. The successful strategies for early therapeutic interventions used in other countries should be studied as examples. This would make it possible to reduce the enormous financial, material and human costs that are a direct consequence of alcohol consumption during pregnancy.

Concordance of three methods for palpebral fissure length measurement in the assessment of fetal alcohol spectrum disorder.

BACKGROUND: The assessment of individuals at risk of fetal alcohol spectrum disorders (FASD) includes the assessment of the craniofacial features that can result from prenatal alcohol exposure. The characteristic facial features of fetal alcohol syndrome (FAS) consist of short palpebral fissures, smooth or flattened philtrum, and thin vermilion border of the upper lip. There are various methods for measuring palpebral fissure lengths (PFLs) and it can be challenging for clinicians to obtain reproducibly accurate measurements. The development of the FAS Facial Photographic Analysis Software by the University of Washington FAS Diagnostic and Prevention Network (DPN) is one such means of improving the accuracy and reproducibility in these measurements. OBJECTIVES: To assess concordance across three methods of PFL measurement: 1) a clear plastic handheld ruler, 2) blunt precision slide calipers, and 3) digital photometric photography (FAS Facial Photographic Analysis Software). METHODS: The PFLs of 50 children (referred to the Clinic for Alcohol and Drug Exposed Children, CADEC) at Children's Hospital in Winnipeg and 50 adults from the University of Manitoba Medical Class of 2008 were measured once by a single clinician, using each of the three methods. The frequency and magnitude of discordance was tabulated. No method served as a gold-standard. RESULTS: The PFLs ranged from 20 to 32 mm. The ruler and photometric measures were concordant in 42% of the subjects. When measures were discordant, half the ruler measures were larger and half were smaller. The caliper measure was concordant with the photometric and ruler measures on 18% and 24% of the subjects, respectively. When measures were discordant, the caliper measures were almost always larger than the photometric and ruler method (0.5 to 2.5 mm larger, 83% and 95% of the time, respectively). The presence of epicanthal folds did not appear to be a factor that contributed to discordance. CONCLUSION: This study demonstrates the challenge in measuring the PFL, even when a single trained clinician is involved. Factors that can contribute to error include the subject's willingness to cooperate, ability to tolerate placement of the tool close enough to the eye to obtain an accurate measure, and precision of the tool. When controlling for the clinician performing the measurements and the quality of the photographs, the ruler and photometric measures were most concordant. The caliper measures tended to measure larger than the ruler and photometric measures.

Racial disparities in pregnancy-related drinking reduction.

OBJECTIVE: The purpose of this study was to investigate the likelihood that women of different racial and ethnic groups would reduce their alcohol consumption during pregnancy. METHODS: Data came from 22 states participating in the Pregnancy Risk Assessment Monitoring System from 2001 to 2005. After stratifying the sample by preconception drinking level, logistic regressions were used to predict drinking reduction and cessation by the third trimester by race, controlling for age, education, marital status, Medicaid status, pregnancy intention, smoking status, and state. RESULTS: Overall, Black, Asian/Pacific Islander and Hispanic women were all significantly less likely than White women to reduce their heavy drinking after becoming pregnant. American Indian/Alaskan Native women who were moderate drinkers before conception were over 2 times more likely than White women to reduce drinking after becoming pregnant (OR 2.19, CI 0.71, 6.76), although this difference was non-significant (P = .17). Among those who binge drank in the months before pregnancy, compared to White women, Black (OR 0.26, CI 0.17-0.39), Hispanic (OR 0.19, CI 0.12-0.29), American Indian/Alaskan Native (OR 0.44 CI 0.20, 0.96), and Asian/Pacific Islander women (OR 0.11, CI 0.06-0.22) were all less likely to quit binge drinking while pregnant. CONCLUSION: Significant racial differences in pregnancy-related drinking reduction are evident, and may help explain racial disparities in FAS. Results suggest that more targeted efforts are needed to meet the national goals of preventing alcohol-exposed pregnancies.

Fetal alcohol syndrome related knowledge assessment and comparison in New Jersey health professional groups.

BACKGROUND There is a need to educate health professionals in regard to Fetal Alcohol Syndrome and Fetal Alcohol Spectrum Disorders across many health and allied health fields. OBJECTIVE Conduct evaluations of educational programs designed to assess knowledge, attitudes and beliefs in relation to Fetal Alcohol Spectrum Disorders (FASD) among health and allied health professionals in the northeastern United States. METHODS FASD related educational efforts were carried out and evaluated in New Jersey for various health-related professional groups over a four-month period using a common set of materials. Pre and post-test evaluation comprised 20 questions on FASD recognition, diagnosis, treatment, and prevention. Groups surveyed included nurses, social workers, counselors, therapists, clinicians and allied health professionals comprising physician assistants, dieticians, physical therapists, occupational therapists. RESULTS Results showed that a majority of health care professionals in New Jersey possess basic knowledge related to FASD and the effects of alcohol on a child in utero. They also had significant awareness of the importance of early diagnosis and the importance of reducing secondary disabilities. The study did however reveal areas for improvement in some professional groups. CONCLUSIONS FASD is the most important preventable cause of mental retardation. Health professionals attending workshops typically had a good basic understanding of FASD, though with some weaknesses specific to their discipline. Educational efforts in regard to FASD should be sensitive to the various health professionals engaged in preventing, diagnosing and treating FASD.

Alcohol consumption among low-income pregnant Latinas.

BACKGROUND: Due to changing cultural norms, Latinas of childbearing age residing in the U.S. may be at increasing risk of drinking harmful levels of alcohol during pregnancy, and may also be unaware of the risks for Fetal Alcohol Spectrum Disorders associated with this behavior. We assessed the prevalence of alcohol consumption in a sample of low-income pregnant Latinas and examined risk factors for alcohol use in the periconceptional period. METHODS: As part of a larger intervention trial, a cross-sectional in-home interview study was conducted among a sample of 100 pregnant low-income Latinas receiving services from the Special Supplemental Nutrition Program for Women, Infants, and Children (WIC) in San Diego County, California. RESULTS: Fifty-seven percent of respondents indicated they were either life-time abstainers or had not consumed any alcohol in the periconceptional period. Forty-three percent reported some alcohol use in the three months prior to recognition of the current pregnancy, and 20% reported at least one binge episode of four or more standard drinks during that time frame. Five percent reported drinking seven or more drinks per week, and 8% continued drinking alcohol after recognition of pregnancy. Significant predictors of any alcohol use in the periconceptional period included English language/higher level of acculturation, younger maternal age, lower parity, higher level of education, younger age at first drink, and having ever smoked. Women who were aware of alcohol warning messages and /or had more knowledge of the Fetal Alcohol Syndrome (FAS) were significantly more likely to have consumed alcohol in the periconceptional period. Frequency of periconceptional use of alcohol did not differ between women who planned or did not plan the pregnancy. CONCLUSION: The prevalence and pattern of early pregnancy alcohol consumption in this sample of Latinas is similar to patterns noted in other race/ethnic groups in the U.S. Level of knowledge about FAS and awareness of warning messages was not protective for early pregnancy alcohol consumption, suggesting that specific knowledge was insufficient to prevent exposure or that other factors reinforce maintenance of alcohol consumption in early pregnancy. Selective interventions in low-income Latinas are warranted, and should be focused on women of reproductive age who are binge or frequent drinkers and who are at risk of becoming pregnant.

Fetal alcohol syndrome: an assessment of the field.

Fetal exposure to alcohol is the major known cause of mental retardation in the Western world. For more than half of the 20th century, the placenta was widely believed to be an effective barrier against environmental agents. The discovery that offspring of pregnant women who were exposed to German measles or administered thalidomide were often malformed raised awareness that teratogens could be any environmental agent, including viruses and drugs, that caused abnormal development. Alcohol was not identified as a teratogen until the 1970s. Fetal exposure to alcohol can cause fetal alcohol syndrome (FAS), which is characterized by specific physical traits and central nervous system dysfunctions. The development of animal model systems has facilitated our study of the effects of fetal alcohol exposure and the elucidation of the mechanisms involved in alcohol-induced abnormal development. Despite our current understanding of the effects of fetal alcohol exposure, the occurrence of FAS and associated fetal alcohol spectrum disorders is still widespread and the associated health-care costs are staggering. This symposium provides an up-to-date analysis of fetal exposure to alcohol and FAS. It is directed not only to investigators working in the field but to a diverse group of scientists working in the biological and biomedical fields to stimulate cross-disciplinary awareness, interest, and collaboration.

Fetal alcohol spectrum disorders: an overview with emphasis on changes in brain and behavior.

Fetal alcohol spectrum disorders constitute a major public health problem. This article presents an overview of important issues that surround these disorders and emphasizes the structural and neurobehavioral consequences associated with prenatal exposure to alcohol. Diagnostic criteria are discussed, and possible moderating factors for the range of outcomes are mentioned. In addition, the prevalence of fetal alcohol spectrum disorders is described, and estimates of the financial impact of these disorders are given. Heavy prenatal alcohol exposure can severely affect the physical and neurobehavioral development of a child. Autopsy and brain imaging studies indicate reductions and abnormalities in overall brain size and shape, specifically in structures such as the cerebellum, basal ganglia, and corpus callosum. A wide range of neuropsychological deficits have been found in children prenatally exposed to alcohol, including deficits in visuospatial functioning, verbal and nonverbal learning, attention, and executive functioning. These children also exhibit a variety of behavioral problems that can further affect their daily functioning. Children exposed to alcohol prenatally, with and without the physical features of fetal alcohol syndrome, display qualitatively similar deficits. Determining the behavioral phenotypes that result from heavy prenatal alcohol exposure is critical, because the identification of these children is crucial for early interventions. In addition, knowing which brain areas are involved might enable the development of better intervention strategies. However, intervention needs to go beyond the affected individual to prevent future cases. As evidenced by the staggering financial impact these disorders have on society, prevention efforts need to be aimed at high-risk groups, and this issue needs to be made a high priority in terms of public health.

Fetal alcohol spectrum disorders prevention: an exploratory study of women's use of, attitudes toward, and knowledge about alcohol.

PURPOSE: The incidence of fetal alcohol spectrum disorders (FASD) is increasing, even though it is 100% preventable. This study examined use of, knowledge about, and attitudes toward alcohol of women requesting emergency contraception (EC) and/or a pregnancy test, and evaluated whether a brief intervention would be effective in educating them about the risks of FASD. DATA SOURCES: Fifty women from two outpatient clinics participated. Information was collected on demographic and personal health habits, alcohol use, and knowledge of and attitudes toward alcohol. As a brief intervention to increase knowledge about FASD, participants read a short pamphlet about the risks of alcohol exposure in pregnancy and then completed a post-test questionnaire. Descriptive statistics, including means, standard deviations, and skewness, were calculated for all variables. Pearson correlations were computed to assess relationships between demographic/lifestyle variables and attitudes toward and knowledge about alcohol. Paired t-tests were used to analyze the relationship between pretest and post-test knowledge scores. CONCLUSIONS: The majority of participants were single (76%), college educated (94%), and received EC at the clinic visit (60%). The average age was 24 years. Slightly over half (52%) reported drinking beer at least once a week, with one to six cans on occasion. Younger women expressed more tolerant attitudes toward alcohol use (p= .02) and drank significantly more beer on occasion (p= .015). Women who reported drinking alcohol when they last had sex were significantly (p= .017) less tolerant in their attitudes toward alcohol use. The intervention used in this study was effective in communicating knowledge about FASD to this population (p < .0001). IMPLICATIONS FOR PRACTICE: These findings suggest that young women may be engaging in behaviors that could put potential offspring at risk for exposure to alcohol. Clinicians are advised to take a thorough history to determine alcohol use in all women of childbearing age and to provide information regarding FASD prevention.