Diagnosis of fetal alcohol syndrome (FAS): German guideline version 2013

BackgroundFetal alcohol syndrome (FAS) belongs to the umbrella of fetal alcohol spectrum disorders (FASD) and affects 0.02–0.8% of all annual births with a high number of undetected cases. FAS has severe and life determining consequences for the affected individual and his family.AimThe aim of the German guideline version 2013 is to provide objectively evaluated, evidence-based, clinically relevant and easily applicable diagnostic criteria for the full picture FAS.MethodsA systematic literature review (2001–2011), analysis of international guidelines and focused hand search were performed. Based on the evidence-assessed literature the multidisciplinary guideline group (14 German Professional Societies, the patient support group “FASD Germany” and 15 additional experts) consented recommendations for the diagnosis of FAS.ResultsThe following diagnostic criteria for FAS resulted: at least one deficit of growth, three defined facial characteristics and one functional or structural anomaly of the central nervous system. Confirmation of intrauterine alcohol exposure is not considered as a prerequisite for FAS diagnosis.ConclusionThe German guideline presented here constitutes an unbiased evidence-based approach to the diagnosis of patients with fetal alcohol syndrome. It includes a practical pocket guide FAS for a quick overview of the diagnostic workup in everyday clinical work.     

Characteristics of children who have full or incomplete fetal alcohol syndrome

OBJECTIVE: To describe the clinical features and hospitalization rates of American Indian children with full or incomplete fetal alcohol syndrome (FAS). STUDY DESIGN: Two retrospective case-control studies were conducted of Northern Plains American Indian children with presumed FAS identified from 1981 to 1993 by using the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM), code 760.71. Children who had full or incomplete FAS were compared with each other and with children who did not have FAS. RESULTS: Compared with the control children, the 43 children with FAS and the 35 children with incomplete FAS had more facial dysmorphology, growth deficiency, central nervous system dysfunction, and muscular problems and were hospitalized more frequently with otitis media, pneumonia, FAS, dehydration, and anemia. Case children were hospitalized more days than were control children. Case children were removed from their homes and placed in foster care more often than were control children. CONCLUSIONS: Children with full or incomplete FAS had many health, learning, and social needs. Health care providers and community programs should identify the needs of these children and offer optimal services to meet those needs.     

Effects on brain development leading to cognitive impairment: a worldwide epidemic

This article reviews causes of cognitive impairment in children with a focus on those in developing countries. The number of children with cognitive limitations is increasing, and for the majority there is little access to professional expertise. Causes include malnutrition, genetic diseases, infectious diseases such as meningitis, parasites, and cerebral malaria, in utero drug and alcohol exposure, newborn asphyxia, low birth weight, head injuries, and endocrine disorders. Many of these are preventable; however, resources for prevention are limited in most developing areas of the world. The challenge for this century is to encourage community leaders and government officials to take on the prevention of cognitive impairment as the highest priority for society. This article proposes that specialists in child behavior and development work with United Nations agencies to develop a "world cognitive impairment watch" to assess and assist each country annually in terms of risk factors, prevention programs, and early intervention programs.     

Fetal alcohol syndrome: implications to family and society in Australia

Aspects of fetal alcohol syndrome (FAS) not previously emphasized are illustrated by seven new cases, two of whom are aboriginal patients. The diagnostic and social importance of seeking further affected family members, and the influence of associated adverse factors are discussed. The concept of a critical period In gestation, or "binge" susceptibility of the fetus and a spectrum of FAS presentations are described.
An increasing prevalence of FAS may be expected with current alcohol consumption trends In Australian females.
A possible plan of management of "at-risk" mothers is briefly outlined.     

Alcohol in pregnancy and neonatal outcome

Fetal alcohol syndrome (FAS) and other fetal alcohol effects in children are characterized by life-long compromises in growth, health, behaviour and cognitive ability. Most of the structural signs and many behavioural signs of FAS are evident at birth. This review describes the expression of fetal alcohol effects in neonates, including diagnostic criteria, alcohol withdrawal, pregnancy outcome, growth retardation, facial dysmorphology and behavioural outcomes.     

Fetal alcohol syndrome

Alcohol is a physical and behavioural teratogen. Fetal alcohol syndrome (FAS) is a common yet under-recognized condition resulting from maternal consumption of alcohol during pregnancy. While preventable, FAS is also disabling.Although FAS is found in all socioeconomic groups in Canada, it has been observed at high prevalence in select First Nations and Inuit communities in Canada.This statement addresses FAS prevention, diagnosis, early identification and management for health care professionals.Prevention of FAS must occur at two levels. Primary prevention involves eliminating FAS through classroom or community education, and encouraging women to avoid consuming alcohol before conception and throughout pregnancy. Secondary prevention involves identifying women who are drinking while pregnant and reducing their consumption. This statement describes a variety of screening strategies including Tolerance-Annoyance, Cut Down, Eye Opener (T-ACE). Medical practitioners should recommend abstinence starting with the first prenatal visit. Prompt referral for alcohol treatment is recommended for pregnant individuals who are unable to stop drinking alcohol.This statement describes the diagnosis of FAS, partial or atypical FAS, alcohol-related birth defects and alcohol-related neurodevelopmental disorder. With a history of in-utero alcohol exposure, a diagnosis of FAS should be considered with current or previous growth deficiency, select facial abnormalities involving the upper lip and eyes, and neurodevelopmental abnormalities. These features are best quantified with the use of a four-digit diagnostic method.Strategies for early identification of possible alcohol-related abnormalities are outlined.Intervention focuses on optimizing development, managing behavioural difficulties and providing appropriate school programming. Of prime importance is earliest possible childhood intervention to prevent secondary disabilities that may result from delay while awaiting a definitive diagnosis of FAS.     

Mütterlicher Alkoholkonsum in der Schwangerschaft und fetales Alkoholsyndrom

Background

At least 14?% of German women drink alcohol during pregnancy. It is estimated that approximately 4 out of 1000 children show the full picture of fetal alcohol syndrome (FAS).

Aim

This study was carried out to identify possible risk factors for maternal alcohol consumption and for the development of FAS.

Material and methods

A systematic literature search from 2001 until 2013 was carried out for the evaluation of risk factors for maternal alcohol consumption confirmed in European studies. The search was limited to European studies because the social conditions and development described in them were more compatible with those of the German society. A further systematic literature search was carried out for evaluation of the risk factors for FAS as confirmed by international studies. The very low number of European studies would not have led to any conclusive results; therefore, the search was extended to American and Canadian studies in addition to the European studies.

Results

Well-educated and well-paid older women in particular consume alcohol during pregnancy; however, women who use (other) drugs, smoke or have close relatives or friends who drink alcohol or use drugs also drink alcohol more often. Women who suffer from a psychiatric disorder have a higher risk of drinking alcohol during pregnancy. A combination of multiple risk factors for alcohol consumption during pregnancy often exists. Whether a pregnant woman who consumes alcohol actually gives birth to a child with FAS or fetal alcohol spectrum disorder (FASD), seems to depend on multiple factors including the stage of pregnancy, duration, frequency and amount of alcohol consumed, nutrition, maternal age, ethnicity, genetic disposition and other factors.

Conclusion

The knowledge of risk factors can contribute to the primary prevention of FAS, via education and support of affected mothers and their families and to the early diagnosis of FAS in affected children.     

Ethanol neurotoxicity and dentate gyrus development

Maternal alcohol ingestion during pregnancy adversely affects the developing fetus, often leading to fetal alcohol syndrome (FAS). One of the most severe consequences of FAS is brain damage that is manifested as cognitive, learning, and behavioral deficits. The hippocampus plays a crucial role in such abilities; it is also known as one of the brain regions most vulnerable to ethanol-induced neurotoxicity. Our recent studies using morphometric techniques have further shown that ethanol neurotoxicity appears to affect the development of the dentate gyrus in a region-specific manner; it was found that early postnatal ethanol exposure causes a transitory deficit in the hilus volume of the dentate gyrus. It is strongly speculated that such structural modifications, even transitory ones, appear to result in developmental abnormalities in the brain circuitry and lead to the learning disabilities observed in FAS children. Based on reports on possible factors deciding ethanol neurotoxicity to the brain, we review developmental neurotoxicity to the dentate gyrus of the hippocampal formation.     

Exposure to alcohol in utero: Influence on cognitive function and learning in a northern elementary school population

OBJECTIVES:

To establish the prevalence of fetal alcohol exposure; to compare physical, behavioural and learning patterns of children with significant alcohol exposure in utero with those of a group of children exposed to minimal alcohol; to assess the usefulness of a fetal alcohol syndrome (FAS)/fetal alcohol effect (FAE) score; and to provide feedback to parents, schools and communities.

DESIGN:

Parent questionnaire, complete physical examinations of children, psychometric tests of the children using elements of the Pediatric Early Elementary Examination (PEEX) and the Pediatric Examination of Educational Readiness (PEER), ADD-H comprehensive teachers rating scale (ACTeRS) score, the newly developed FAS/FAE Score, and the Brigance Comprehensive Inventory of Basic Skills to assess language and mathematical achievement. Testers were blinded to the results of the assessments and questionnaires.

SETTING:

Grades 1 to 3 at Sir Alexander MacKenzie School in Inuvik, Northwest Territories.

RESULTS:

Twenty-four per cent of mothers reported frequent or binge drinking, and 76% of mothers reported abstinence or moderate alcohol intake. There were significant ethnic differences; none of the Caucasian mothers reported frequent or binge drinking during pregnancy compared with 40% of Inuvialuit and 33% of Indian mothers. Children with exposure to frequent or binge drinking in utero had smaller palpebral fissures (2.3±0.1 cm versus 2.5±0.3 cm, P<0.01), smaller palpebral fissure to intercanthal distance ratios (0.77±0.05 versus 0.86±0.10, P<0.01) and smaller head circumferences (52.1±1.6 cm versus 53.6±1.6 cm, P<0.01) than those exposed to moderate drinking or abstinence. Children exposed to frequent or binge drinking in utero also demonstrated poorer coordination (P<0.005) and cortical function (P<0.01), attention problems, hyperactivity (ACTeRS), and poorer scholastic achievement in language (P<0.001) and mathematics (P<0.01) than their minimally exposed counterparts. In children in grades 2 and 3, a significant negative correlation was found between FAS/FAE scores and language (r=–0.55, P<0.001) and mathematical achievement (r=–0.28, P=0.20).

CONCLUSIONS:

The prevalence of drinking during pregnancy in the northern population studied was high, and exposure in utero was associated with physical abnormalities, difficulties with coordination and cortical function, and significant delays in language and mathematical achievement. The FAS/FAE score may be useful in predicting success or failure in language development.     

Executive function deficits in children with fetal alcohol spectrum disorders (FASD) measured using the Cambridge Neuropsychological Tests Automated Battery (CANTAB)

Background:  Chronic prenatal alcohol exposure causes a spectrum of deleterious effects in offspring, collectively termed fetal alcohol spectrum disorders (FASD), and deficits in executive function are prevalent in FASD. The goal of this research was to test the hypothesis that children with FASD exhibit performance deficits in tasks that assess attention, planning and spatial working memory.
Methods:  Subjects (8–15 years male and female children) with a diagnosis of fetal alcohol syndrome (FAS), partial FAS (pFAS), or alcohol-related neurodevelopmental disorder (ARND), and age- and sex-matched controls, completed four tasks selected from the Cambridge Neuropsychological Tests Automated Battery (CANTAB^®).
Results:  Compared with age-matched control children ( n =  92), subjects with FASD ( n =  89) exhibited longer reaction and decision times (effect size range; Cohen's d  = .51 to .73), suggesting deficits in attention. Children with FASD demonstrated deficits in planning and spatial working memory that became more pronounced when task difficulty increased. The largest effect size in this study population (Cohen's d =  1.1) occurred in the spatial working memory task. Only one outcome measure revealed differences across the diagnostic subgroups, although all groups were different from control.
Conclusion:  This study demonstrates that deficits in multiple executive function domains, including set shifting, planning and strategy use, attention and spatial working memory, can be assessed in children with FASD using an easy to administer, brief battery of computer-based neuropsychological tasks. The tasks appear to be equally sensitive for brain injury resulting from prenatal exposure to alcohol, regardless of the presence of facial dysmorphology.     

Paediatric and ophthalmologic observations in offspring of alcohol abusing mothers

The offspring of nine women who had abused alcohol and drugs during pregnancy were studied. Of the 30 children, 10 had fetal alcohol syndrome (FAS) or fetal alcohol effects (FAE). Ophthalmological impairments associated with FAS—impaired vision, optic nerve hypoplasia, cataract, increased tortuosity of retinal vessels—were common. The severity of teratogenic lesions varied among the children and was often related to the level of abuse during pregnancy. Most women were unable to take care of their children during periods of substance abuse. All children with FAS/FAE had learning difficulties. Four mothers abstained from alcohol or drugs during some of their pregnancies and gave birth to children without birth defects.     

Application of the fetal alcohol syndrome facial photographic screening tool in a foster care population

We determined the prevalence of fetal alcohol syndrome (FAS) in a foster care population and evaluated the performance of the FAS Facial Photographic Screening Tool. All children enrolled in a Washington State Foster Care Passport Program were screened for three conditions: (1) the FAS facial phenotype from a photograph, (2) evidence of brain damage with prenatal alcohol exposure from their Health and Education passport, and/or (3) other syndromes identifiable from a facial photograph. Screen-positives received diagnostic evaluations at a FAS Diagnostic and Prevention Network clinic. The prevalence of FAS in this foster care population was 10 to 15/1000, or 10 to 15 times greater than in the general population. The screening tool performed with 100% sensitivity, 99.8% specificity, 85.7% predictive value positive, and 100% predictive value negative. We conclude that the foster care population is a high-risk population for FAS. The screening tool performed with very high accuracy and could be used to track FAS prevalence over time in foster care to accurately assess the effectiveness of primary prevention efforts.     

Dysmorphic features in offspring of alcoholic mothers.

The frequencies of 60 minor physical anomalies and various craniofacial measurements in 52 children with alcohol exposure of various durations in utero were determined and compared with 48 non-exposed healthy children at a mean age of 27 months. Compared with non-exposed children a significantly higher total minor physical anomaly count was observed in those children exposed prenatally to alcohol throughout pregnancy. Binge drinking was not associated with an increased minor physical anomaly count. During the first year of life facial features were judged according to subjective impression: 10 children had typical facial features of fetal alcohol syndrome (FAS) and 19 children were judged to have possible fetal alcohol effects on their face. Only six of them fulfilled the strict craniofacial criteria for diagnosis of FAS at the age of 27 months. Our results stress the importance of recognising also the subtle dysmorphic facial features associated with prenatal alcohol exposure: 22 of 29 (76%) of exposed children judged to have typical or possible features of FAS during the first year showed signs of central nervous system dysfunction at the age of 27 months.     

Growth hormone status in six children with fetal alcohol syndrome

Objective: Prenatal alcohol exposure may cause fetal alcohol syndrome (FAS), which is associated with pre- and postnatal growth retardation. Materials and methods: Spontaneous 24-h growth hormone (GH) secretion was measured in six prepubertal short children with FAS (two boys and four girls) aged 4-14 years. The response to a GH stimulation test, and levels of insulin-like growth factor-I (IGF-1) and IGF-binding protein-3 (IGFBP-3) were also measured. Comparisons were made between the children with FAS and healthy children of both normal and short stature, as well as children born small for gestational age (SGA). Results: There were no differences in the mean area under the curve above the baseline or the maximum level of GH during a 24-h period (GH_max) between the children with FAS and the reference groups. However, the estimated rate of spontaneous 24-h GH secretion in children with FAS was similar to that of children born SGA, but lower than in children of normal stature ( p = 0.02). The plasma concentrations of IGF-1 and IGFBP-3 were in the lower parts of the normal range. Conclusion: We conclude that GH secretion in short children with FAS is similar to that in short children born SGA; that is, in the lower range of normal children.     

Fetales Alkoholsyndrom (FAS)

Fetal alcohol syndrome (FAS) is a set of physical and mental developmental defects that can result when a woman drinks alcohol during her pregnancy. FAS is characterized by craniofacial malformations, microcephaly, and growth deficits. ‘There may be no obvious physical features, but a child with a history of prenatal alcohol exposure have organic brain damage and some have considerable cognitive deficits (partial FAS). Affected children have difficulties with learning, attention, memory, judgement and problem solving. They show poor impulse control, lack fear and have problems dealing with risks. They fail to consider the consequences of their actions. They are naïve, credulous, and easily encouraged to follow others. As the resulting psychosocial and adjustment problems persist into adolescence and adulthood lifetime care is required to support and protect FAS patients.     

Paediatricians' knowledge, attitudes and practice following provision of educational resources about prevention of prenatal alcohol exposure and Fetal Alcohol Spectrum Disorder

Aim: The study aims to provide paediatricians in Western Australia (WA) with educational resources ( http://www.ichr.uwa.edu.au/alcoholandpregnancy ) about the prevention of prenatal alcohol exposure and fetal alcohol spectrum disorder, and assess changes in their knowledge, attitudes and practice about fetal alcohol syndrome (FAS) and alcohol consumption in pregnancy. Methods: Following our 2004 survey of paediatricians, we developed and distributed educational resources to 159 paediatricians in WA in 2007. Six months later, we surveyed these paediatricians and compared their responses with results from 2004 using prevalence rate ratios (PRRs) and 95% confidence intervals (CIs). Results: Of 133 eligible paediatricians, 82 (61.7%) responded: 65.9% had seen the resources, of these 66.7% had used them and 29.6% said the resources had helped them change, or influenced their intent to change, their practice. There was no change in the proportion that knew all the essential features of FAS (18.3% in 2007; 20.0% in 2004) or had diagnosed FAS (58.5% in 2007; 58.9% in 2004). An increased proportion (75.6% in 2007; 48.9% in 2004) agreed that pregnant women should completely abstain from consuming alcohol (PRR 1.55, 95% CI 1.21–1.97). Only 21.7% (no increase from 2004) routinely asked about alcohol use when taking a pregnancy history. Conclusions: We recommend that asking about alcohol use during pregnancy should be emphasised in paediatric training. Unless paediatricians' capacity to ask about alcohol consumption when taking a pregnancy history and to diagnose FAS is increased, FAS will remain under‐diagnosed in Australia and opportunities for management, early intervention and prevention will be overlooked.     

Prevalence of fetal alcohol syndrome in the Top End of the Northern Territory

OBJECTIVE: To establish the prevalence of fetal alcohol syndrome (FAS) in the Top End of the Northern Territory (NT), Australia, in both the indigenous and non-indigenous populations. Fetal alcohol syndrome is a preventable disease that is a major cause of intellectual handicap worldwide. The prevalence of FAS in the NT, and in Australia as a whole, is unknown. METHODOLOGY: Cases were identified through retrospective review of medical records and outpatient letters of children seen by Royal Darwin Hospital paediatric staff. Cases were also identified by tracing potentially affected siblings, or incidentally during clinical work. All children were born between 1990 and 2000, and lived in the Top End of the NT. RESULTS: Seventeen children were identified with definite FAS. Twenty-six children with partial FAS or alcohol-related neurodevelopmental disorder (ARND) were also identified. The prevalence of FAS in the Top End of the NT was calculated to be 0.68 per 1000 live births. The prevalence might be as high as 1.7 per 1000 live births, if cases identified as partial FAS or ARND because of insufficient records, were assumed to have full FAS. In indigenous children, the corresponding prevalence was calculated to be between 1.87 and 4.7 per 1000 live births. The difference between indigenous and non-indigenous rates of FAS was significant (P < 0.0001). CONCLUSIONS: The prevalence of FAS in indigenous children of the Top End of the NT is comparable to the high rates in indigenous populations worldwide.     

The fetal alcohol syndrome in adolescence

At present, alcohol is recognized as the leading teratogenic agent in long-lasting CNS dysfunction. Little is known about the long-term development and outcome of children with fetal alcohol syndrome (FAS). Forty-four FAS patients who were diagnosed in early childhood were followed up for 10–14 years. This study documents the developmental changes of the manifestations of FAS from childhood to adolescence and describes a characteristic "juvenile" pattern of FAS, which may help to identify this syndrome even in adolescence. This is especially relevant for patients who were not diagnosed earlier.     

The course of alcoholic embryopathy

Pediatric examinations were performed in 71 children with fetal alcohol syndrome (FAS). A subgroup of these patients underwent neurological and psychiatric assessment and psychological testing. Psychopathology was also studied in a matched control group. After a period of 3-4 years various subgroups of these children were re-examined. Follow-up examinations revealed that with increasing age dysmorphic signs became less apparent in children with FAS. Furthermore, neurologic performance improved and EEG-recordings revealed less pathological patterns. These positive findings were confirmed by the observation that these patients also experienced an improvement with regard to psychiatric status and cognitive functions. But it must be stated that the affected children did not become normal in all psychiatric areas. Hyperactivity and distractability seem to be the major handicaps for a normal school career of these children.