Diagnostic nomenclature for foetal alcohol spectrum disorders: the continuing challenge of causality

Prenatal alcohol exposure is a risk factor for neurologically based cognitive and adaptive disability. Diagnostic nomenclature for prenatally exposed children with cognitive and adaptive disability who lack features for foetal alcohol syndrome (FAS) or partial FAS includes the terms alcohol‐related neurodevelopmental disorder (ARND) and foetal alcohol spectrum disorder(s) (FASD). Although these terms are now widely used, this paper argues that both are problematic. ARND is flawed by unjustifiably turning a risk factor into a causal factor and shrouding the result in terminological ambiguity, while FASD is not appropriate as a clinical label, and its use as a proxy for ARND deflects critical attention from the causal inferencing that is integral to diagnosing children with an alcohol‐related teratogenic condition. Existing nomenclature is at odds with logical and evidence‐based diagnosing and also has implications for interpretation of epidemiological data. Diagnostic nomenclature that is not tightly linked to causal inference is preferable at the present stage of this field's development.     

Characteristics of mothers who have children with fetal alcohol syndrome or some characteristics of fetal alcohol syndrome

BACKGROUND: Health care providers can more effectively prevent fetal alcohol syndrome and prenatal alcohol exposure if they know more about mothers who have children with fetal alcohol syndrome (FAS) or some characteristics of FAS. METHODS: We conducted two retrospective case-control studies of Northern Plains Indian children with FAS and some characteristics of FAS diagnosed from 1981 to 1993 by using the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM), code 760.71. We compared mothers who had children with FAS or some characteristics of FAS with mothers who had children that did not have FAS. RESULTS: Compared with control mothers, 43 mothers who had children with FAS and 35 mothers who had children with some characteristics of FAS were older, had fewer prenatal visits, more pregnancies, more mental health problems, and more injuries (both total and alcohol-related). Although the prevalence of drinking was high in both case and control mothers, case mothers had more alcohol-related medical problems, drank heavily, in binges, and daily more often than control mothers. CONCLUSIONS: Women with injuries and mental health problems should be screened for substance use. Mothers of children with FAS or of some characteristics of FAS have numerous needs that must be addressed to prevent future prenatal alcohol exposure.     

Fetal alcohol syndrome disorders: experience on the field. The Lazio study preliminary report

In Italy, little is known about the problems related to alcohol drinking during pregnancy. In this paper, the Italian literature about this subject is briefly reviewed. This first Italian experience of a field study, aimed to the assessment of the prevalence of fetal alcohol syndrome (FAS) and fetal alcohol spectrum disorders (FASD) in an area in the Rome province (Lazio region) is reported. This in-field study was performed in the school years 2003-2004 and 2004-2005 in cooperation with American researchers, most from University of New Mexico (Albuquerque), and Italian researchers from University "la Sapienza" of Rome. First grade children (n(o) = 1,086) of primary school were contacted to enter in the in-school study for the detection of FAS and FASD and were examined by the experts team of clinicians, pediatrics, psychologists. Preliminary consideration and the implications of this study for FASD prevention are discussed.     

Prevention of Secondary Conditions in Fetal Alcohol Spectrum Disorders: Identification of Systems-Level Barriers

Fetal alcohol spectrum disorders (FASD) impact 2–5 % of the US population and are associated with life-long cognitive and behavioral impairments. Individuals with FASD have high rates of secondary conditions, including mental health problems, school disruptions, and trouble with the law. This study focuses on systems-level barriers that contribute to secondary conditions and interfere with prevention and treatment. Using a phenomenological methodology, semi-structured interviews and focus groups were conducted with parents of children with FASD and service providers. Data were analyzed using a framework approach. Participants emphasized the pervasive lack of knowledge of FASD throughout multiple systems. This lack of knowledge contributes to multi-system barriers including delayed diagnosis, unavailability of services, and difficulty qualifying for, implementing, and maintaining services. FASD is a major public health problem. Broad system changes using a public health approach are needed to increase awareness and understanding of FASD, improve access to diagnostic and therapeutic services, and create responsive institutional policies to prevent secondary conditions. These changes are essential to improve outcomes for individuals with FASD and their families and facilitate dissemination of empirically supported interventions.     

National Institute on Alcohol Abuse and Alcoholism and the study of fetal alcohol spectrum disorders. The International Consortium

Fetal alcohol syndrome (FAS) is a large and rapidly increasing public health problem worldwide. Aside the full-blown FAS, multiple terms are used to describe the continuum of effects that result from prenatal exposure to alcohol, including the whole fetal alcohol spectrum disorders (FASD). The revised Institute of Medicine (IOM) Diagnostic Classification System and the diagnostic criteria for FAS and FASD are reported, as well as the formation of the four-state FAS International Consortium and its aims, as the development of an information base that systematizes data collection that helps to determine at-high-risk populations, and to implement and test a scientific-based prevention/intervention model for at risk women. The Consortium was further enlarged, with the inclusion of some more states (including Italy), leading to the formation of the International Consortium for the Investigation of FASD. The objectives of the Consortium are reported, as well as its previous activities, the South Africa and Italy Projects (active case ascertainment initiatives), and its future activities.     

Prenatal and Postnatal Choline Supplementation in Fetal Alcohol Spectrum Disorder

Fetal alcohol spectrum disorder (FASD) is common and represents a significant public health burden, yet very few interventions have been tested in FASD. Cognitive deficits are core features of FASD, ranging from broad intellectual impairment to selective problems in attention, executive functioning, memory, visual–perceptual/motor skills, social cognition, and academics. One potential intervention for the cognitive impairments associated with FASD is the essential nutrient choline, which is known to have numerous direct effects on brain and cognition in both typical and atypical development. We provide a summary of the literature supporting the use of choline as a neurodevelopmental intervention in those affected by prenatal alcohol. We first discuss how alcohol interferes with normal brain development. We then provide a comprehensive overview of the nutrient choline and discuss its role in typical brain development and its application in the optimization of brain development following early insult. Next, we review the preclinical literature that provides evidence of choline’s potential as an intervention following alcohol exposure. Then, we review a handful of existing human studies of choline supplementation in FASD. Lastly, we conclude with a review of practical considerations in choline supplementation, including dose, formulation, and feasibility in children.     

Language and literacy outcomes from a pilot intervention study for children with fetal alcohol spectrum disorders in South Africa.

This pilot study investigated the efficacy of a classroom language and literacy intervention in children with fetal alcohol spectrum disorders (FASD) in the Western Cape Province of South Africa. The study forms part of a larger, ongoing study that includes metacognitive and family support interventions in addition to language and literacy training (LLT). For the LLT study, 65 nine-year-old children identified as either FASD or not prenatally exposed to alcohol, were recruited. Forty children with FASD were randomly assigned to either a LLT intervention group or FASD control group (FASD-C). Twenty-five nonalcohol-exposed children were randomly selected as nonexposed controls (NONEXP-C). Prior to intervention and after nine school-term months of treatment, general scholastic tests, teacher and parent questionnaires, classroom observations and specific language and literacy tests were administered to the participants. The nine months assessment reflects the midpoint and the first assessment stage of the overall study. At initial diagnosis and prior to commencement of the interventions, participants with FASD were significantly weaker than NONEXP-C children in reading, spelling, addition, subtraction, phonological awareness, and other tests of early literacy. Teachers rated a range of adaptive behaviors of children with FASD as significantly worse than NONEXP-C. Mean scholastic and language and literacy scores for all groups showed improvement over baseline scores after 9 months of intervention. The mean test scores of children with FASD remained lower than those of NONEXP-C. Comparison of mean baseline to postintervention score changes between the LLT, FASD-C, and NONEXP-C groups revealed that although there were no significant gains by the LLT intervention group over control groups on the general scholastic assessment battery, significantly greater improvements occurred in the LLT intervention group compared to the FASD-C group in specific categories of language and early literacy. These categories were syllable manipulation, letter sound knowledge, written letters, word reading and nonword reading, and spelling. In spite of cognitive and classroom behavioral difficulties, children with FASD from a vulnerable environment demonstrated significant cognitive improvements in specific areas targeted by classroom interventions. To our knowledge, this is the first report of a systematic classroom intervention and resultant cognitive response in children with FASD.     

Two generations of maternal alcohol abuse: impact on cognitive levels in mothers and their children

Transgenerational effects of alcohol on mothers’ and children’s intellectual functioning has been examined in 22 families from very deprived environments. Their psychosocial outcomes and IQ level were evaluated in a follow‐up study on average seven years after they left the support group of a day‐care centre for young children; school data were collected for the offspring. A decrease of 18 IQ points due to fetal alcohol spectrum disorders (FASD) was observed in the two generations (mothers, children). Accumulation of alcohol problems in the families still predicted school failure, even in absence of FASD. The possible gain of IQ points due to the decreasing of alcohol consumption during pregnancy could help them have better school experiences. Providing appropriate ongoing supports would be an important and practical approach to improve the conditions of life of these families.     

A pilot study of alcohol exposure and pharmacokinetics in women with or without children with fetal alcohol syndrome

AIMS: To determine the alcohol exposure and pharmacokinetics of alcohol in a group of women who had given birth to children with FAS, compared with women who had not given birth to FAS children. METHODS: 10 women who had given birth to FAS children (FAS mothers) and 20 Controls were studied to determine how they metabolize alcohol in a single limited-access quasi-experimental session of voluntary consumption of alcohol. They had free choice in the consumption of any amount of their favourite beverage for approximately 2.5 h, but their drinking was terminated if the breath alcohol concentrations (BrAC) exceeded 150 mg%. BrACs was measured during ethanol consumption and for several hours after, for estimation of alcohol exposure and pharmacokinetics. RESULTS: FAS mothers consumed significantly larger amounts of alcohol, and achieved significantly higher peak BrAC levels than Controls. The rate of decline of alcohol from the circulation (beta-60) showed a 2-fold variation across subjects but there was no significant difference between the two groups. CONCLUSIONS: This study did not show any difference in alcohol pharmacokinetics in free-choice drinking by non-pregnant women, who either have given or have never given birth to FAS children. However, mothers of FAS children tend to consume more alcohol per session. Future studies in larger samples will be needed to confirm these findings and to examine drinking patterns and other factors that may increase the risk of FAS in children of women who drink alcohol during pregnancy.     

Fetal alcohol syndrome: knowledge and attitudes of family medicine clerkship and residency directors

Fetal alcohol spectrum disorders (FASD) are the leading preventable causes of developmental disabilities with serious permanent consequences. Regardless of the increased awareness of fetal alcohol syndrome (FAS), 13% of women in the United States drink alcohol during pregnancy. Health care professionals do not routinely assess the frequency and quantity of alcohol use by their patients. This study examined the knowledge, skills, and practices of family medicine residency and clerkship directors and assessed the time devoted and format of FAS curricula in the programs. A self-administered anonymous survey was sent to the residency and clerkship directors (N = 571). Response rate of clerkship directors was 52% and residency directors 46%. Both groups showed high level of knowledge of FASD and of alcohol counseling practices for pregnant women. Although almost two thirds of the residency programs had FASD integrated in the curriculum, an equivalent fraction of predoctoral programs did not. More than half of the clerkship directors without FASD in their curriculum agreed that a need exists for its inclusion. These findings raise important medical education and policy issues and provide insight into the disparity in FASD content of curricula between predoctoral and family medicine residency programs in the United States. The role of physician counseling in primary prevention of FAS should continue to be stressed in predoctoral and residency education.     

Fetal alcohol syndrome (FAS) primary prevention through FAS diagnosis: I. Identification of high-risk birth mothers through the diagnosis of their children

A 5-year, fetal alcohol syndrome (FAS) primary prevention study was conducted in Washington State to: (1) assess the feasibility of using a FAS diagnostic and prevention clinic as a centre for identifying and targeting primary prevention intervention to high-risk women (namely women who had given birth to a child with FAS); (2) generate a comprehensive, lifetime profile of these women; (3) identify factors that have enhanced and/or hindered their ability to achieve abstinence. The results of this study are presented in two parts: work on objective 1 is summarized in the present paper; whereas that on objectives 2 and 3 is summarized in the accompanying paper. This project demonstrated that a multidisciplinary FAS Diagnostic and Prevention Network (FAS DPN) clinic could successfully attract and meet the diagnostic and treatment planning needs of patients presenting with prenatal alcohol exposure. One out of every three patients evaluated in the FAS DPN clinics was diagnosed with FAS or static encephalopathy/alcohol exposed. The birth mothers of one out of every three of these children diagnosed with FAS or static encephalopathy/alcohol exposed could be located and directly contacted. Half of the birth mothers directly contacted were still at risk for producing more children damaged by prenatal alcohol exposure. Thus, one out of every 18 children evaluated in the FAS DPN clinics had a birth mother who could be found and was at risk of producing more children damaged by prenatal alcohol exposure. Primary prevention programmes targeted to this high-risk population could lead to measurable, cost-effective reductions in the incidence of FAS. Using this approach, the cost of raising a child with FAS would be roughly 30 times the cost of preventing FAS in the child. The benefit to the children, their mothers, and society would be immeasurable.     

A fetal alcohol syndrome surveillance pilot project in American Indian communities in the Northern Plains.

A pilot fetal alcohol syndrome (FAS) surveillance was carried out in four American Indian communities in the Northern Plains by the Aberdeen Area Indian Health Service to determine the incidence of FAS and to evaluate the feasibility of establishing continuing surveillance for FAS. Baseline data on the incidence of FAS would be used by the Indian Health Service to develop and evaluate preventive interventions, including treatment programs for pregnant women who drink alcohol. Four of the 1,022 children included in the project were found to have FAS, a rate of 3.9 per 1,000 live births. The rate is believed to underestimate the true rate of FAS because some low birth weight children were not screened, parents or guardians were reluctant to bring children suspected of FAS for evaluation, clinicians were hesitant to diagnose possible alcohol-damaged children for fear of labeling the child, and some children with FAS died before the diagnosis of FAS could be confirmed. If the rate of FAS is similar for the 39 percent of the infants not screened and for the 25 percent of suspected infants who were not evaluated, a rate of 8.5 cases of FAS per 1,000 live births may be postulated. The authors recommend routine screening of prenatal patients for substance abuse and establishing a tracking system for low birth weight infants suspected to have FAS or other alcohol-related developmental disorders, in an effort to establish more accurate FAS rates.(ABSTRACT TRUNCATED AT 250 WORDS)     

Alcohol consumption among women who are pregnant or who might become pregnant--United States, 2002

Alcohol use during pregnancy is associated with health problems that adversely affect the mother and fetus; no level of alcohol consumption during pregnancy has been determined safe. Fetal alcohol syndrome (FAS) is recognized as the foremost preventable condition involving neurobehavioral and developmental abnormalities. Women who drink during pregnancy place themselves at risk for having a child with FAS or fetal alcohol spectrum disorders (FASD). To determine the alcohol consumption patterns among all women of childbearing age, including those who are pregnant or might become pregnant, CDC analyzed data for women aged 18-44 years from the 2002 Behavioral Risk Factor Surveillance System (BRFSS) survey. The results of that analysis indicated that approximately 10% of pregnant women used alcohol, and approximately 2% engaged in binge drinking or frequent use of alcohol. The results further indicated that more than half of women who did not use birth control (and therefore might become pregnant) reported alcohol use and 12.4% reported binge drinking. Women who are pregnant or who might become pregnant should abstain from alcohol use.     

Maternal risk factors for fetal alcohol syndrome in the Western cape province of South Africa: a population-based study

OBJECTIVES: We defined risk factors for fetal alcohol syndrome (FAS) in a region with the highest documented prevalence of FAS in the world. METHODS: We compared mothers of 53 first-grade students with FAS (cases) with 116 randomly selected mothers of first-grade students without FAS (controls). RESULTS: Differences between case and control mothers in our study population existed regarding socioeconomic status, religiosity, education, gravidity, parity, and marital status. Mothers of children with FAS came from alcohol-abusing families in which heavy drinking was almost universal; control mothers drank little to no alcohol. Current and past alcohol use by case mothers was characterized by heavy binge drinking on weekends, with no reduction of use during pregnancy in 87% of the mothers. Twenty percent of control mothers drank during pregnancy, a rate that declined to 12.7% by the third trimester. The percentage who smoked during pregnancy was higher for case mothers than for control mothers (75.5% vs 30.3%), but the number of cigarettes smoked was low among case mothers. The incidence of FAS in offspring of relatively young women (28 years) was not explained by early drinking onset or years of drinking (mean, 7.6 years among case mothers). In addition to traditional FAS risk factors, case mothers were smaller in height, weight, head circumference, and body mass index, all anthropomorphic measures that indicate poor nutrition and second-generation fetal alcohol exposure. CONCLUSIONS: Preventive interventions are needed to address maternal risk factors for FAS.     

RE-AIM evaluation of the Alcohol and Pregnancy Project: educational resources to inform health professionals about prenatal alcohol exposure and fetal alcohol spectrum disorder

The objective was to evaluate the Alcohol and Pregnancy Project that provided health professionals in Western Australia (WA) with educational resources to inform them about prevention of prenatal alcohol exposure and fetal alcohol spectrum disorder (FASD). The authors developed, produced, and distributed educational resources to 3,348 health professionals in WA. Six months later, they surveyed 1,483 of these health professionals. The authors used the RE-AIM framework (reach, effectiveness, adoption, implementation, and maintenance) to evaluate the project. The educational resources were effective in producing a 31% increase in the proportion of health professionals who routinely provided pregnant women with information about the consequences of drinking alcohol during pregnancy. One hundred percent of the settings adopted the project, it reached 96.3% of the target population, it was implemented as intended, and the resources were maintained (http://www.ichr.uwa.edu.au/alcoholandpregnancy). The educational resources for health professionals have potential to contribute to reducing prenatal alcohol exposure and FASD.     

Alcohol and women: clinical aspects

Alcohol-related pathologies lead to most serious expressions, both at clinical and social level. The diffused social acceptance of consumption and abuse behavior and the lack of alcohol education for professionals (physicians, psychologists, social workers etc.) make difficult to put in the right frame this issue. Just a multidimensional approach can make the problem understandable. The history of alcohol consumption during the time gives us an exhaustive picture of the negative consequences of alcohol consumption. Alcohol consumption during pregnancy is a problem still underestimated and represents a serious risk for the health of the newborns: children alcohol-exposed in uterus are at risk to develop many pathologies and even the fetal-alcohol syndrome (FAS) that leads to facial anomalies, growth deficiencies and neurological damages. Therefore interventions coping with this kind of issues are needed in order to enhance people's health.     

Sobering thoughts: town Hall meetings on fetal alcohol spectrum disorders

Prenatal exposure to alcohol is one of the leading causes of preventable birth defects and developmental disabilities. During the past 30 years, fetal alcohol spectrum disorders (FASD), including fetal alcohol syndrome, have gradually begun to attract attention. However, awareness and understanding of the disorders remain low, and people who are affected are seriously underserved. The FASD Center for Excellence held a series of town hall meetings in 2002 and 2003 to gauge the issues surrounding FASD nationwide. On the basis of its findings, the center proposed a series of recommendations to begin to remedy some of the deficiencies that were identified.     

Community and Team Member Factors that Influence the Operations Phase of Local Prevention Teams: The PROSPER Project

This study examined the longitudinal predictors of quality of functioning of community prevention teams during the "operations" phase of team development. The 14 community teams were involved in a randomized-trial of a university-community partnership project, PROSPER (Spoth et al., Prevention Science, 5(1): 31-39, 2004b), that implements evidence-based interventions intended to support positive youth development and reduce early substance use, as well as other problem behaviors. The study included a multi-informant approach to measurement of constructs, and included data from 137 team members, 59 human service agency directors and school administrators, 16 school principals, and 8 Prevention Coordinators (i.e. technical assistance providers). We examined how community demographics and social capital, team level characteristics, and team member attributes and attitudes are related to local team functioning across an 18-month period. Findings indicate that community demographics (poverty), social capital, team member attitudes towards prevention, and team members' views of the acceptability of teen alcohol use played a substantial role in predicting various indicators of the quality of team functioning 18 months later.     

Moderate Alcohol and Tobacco Use During Pregnancy and Child Behavior Outcomes

The goal of this study was to investigate low to moderate intrauterine exposure to alcohol and tobacco and possible behavioral consequences for children. A sample of ninety-eight young mothers were interviewed and their self-reports of substance use during pregnancy and perceived problem behaviors in their children (ages infancy to 12) were examined. Findings suggest significant differences between perceived problem behaviors by children of mothers who used low to moderate amounts of alcohol and tobacco while pregnant and children of mothers who had not used these substances. This offers important implications for prevention programs for young women.