fetal alcohol spectrum disorders

Within correctional/confinement settings, screening in order to detect Fetal Alcohol Spectrum Disorders (FASD) or Alcohol-Related Neuro Developmental Disorder (ARND) is frequently lacking. The courts may not recognize FAS/ ARND which leads to inappropriate sentences for this vulnerable group. The primary objective of this systematic PRISMA review was to explore the peer reviewed literature which has investigated FASD in the criminal justice system. The present systematic PRISMA review explores the peer reviewed literature published since 1997 which has investigated using four databases in addition to separate searches conducted on ‘Google Scholar’ using specific search criteria. Only five studies were identified in this review which investigated the prevalence of FASD in an offender population. Only two studies were identified which investigated the psycho-legal abilities of offenders with FASD. Only three studies were identified which examined prenatal exposure to alcohol as potential risk factor for adverse outcomes. Only one study was identified which investigated the knowledge and attitudes of FASD in criminal justice professionals. Overall, the studies identified in this review highlight the urgent need for the development of screening tool(s) for FASD which have demonstrated validity and for the implementation of routine screening for FASD. In terms of the implication for further research and practice, the studies identified in this review highlight that training needs in relation to FASD in correction systems are substantial and require immediate attention. Important issues in formulating and implementing treatment programs for people with FASD in the corrections systems are also discussed.

Information on the diagnosis of fetal alcohol spectrum disorders (FASD) in Australia is limited, with no routine national surveillance for FASD, no recommended national standards for diagnosis and evidence of incon- sistent and inadequate 5–7 diagnostic practices. In a large survey of paediatricians in Western Australia approxi- mately 20% were able to identify the diagnostic features of FAS, despite almost 50% reporting that they had diag- nosed the condition. 8 The absence of accepted guide- lines for referral and diagnosis has likely contributed to poor case ascertainment, misdiagnosis, and a conse- quent lack of access to health, education and social services. 9

Alcohol exposure in utero may impair growth, central nervous system structure and/or function and cause birth defects. Children exposed to alcohol in utero may have sig- nificant neurobehavioural problems persisting into adult- hood [1] and/or develop one of the Fetal Alcohol Spectrum Disorders [2,3]. This spectrum includes: FAS, the most severe outcome of alcohol exposure in utero; Par- tial FAS; and Alcohol Related Neurodevelopmental Disor- der (ARND), the diagnosis of which requires confirmation of maternal alcohol exposure and neurode- velopmental problems not otherwise explained. Also included are Alcohol Related Birth Defects (ARBD), the diagnosis of which require confirmation of maternal alco- hol exposure and specific birth defects attributable to alcohol.[3] The term Fetal Alcohol Effects (FAE) was pre- viously used to describe children with some, but not all of the features of FAS.[4] Adverse life outcomes for individu- als with FAS or FAE include inappropriate sexual behav- iours, disrupted school education, trouble with the law, confinement, and mental health, alcohol and drug prob- lems.[5]

development, and literacy. 3,4 However, the promise of these interventions is limited by diagnostic challenges in clinical practice because children with FASD are most dif fi cult to identify in infancy and early childhood, when neurocognitive interventions may be most effective. In “ Early-Life Predictors of Fetal Alcohol Spectrum Disorders ” in this issue of Pediatrics , Kalberg et al 5 address the issue of early diagnosis in a prospective longitudinal cohort in the Western Cape province of South Africa by examining the degree to which growth, dysmorphology, and neurobehavioral measures are predictive of FASD diagnosis at age 5 years.

The adverse effects of prenatal alcohol exposure constitute a continuum of disabilities (fetal alcohol spectrum disorders [FASD]). In 1996, the Institute of Medicine established diagnostic categories delineating the spectrum but not specifying clinical criteria by which diagnoses could be assigned. In 2005, the authors published practical guidelines operationalizing the Institute of Medicine categories, allowing for standardization of FASD diagnoses in clinical settings. The purpose of the current report is to present updated diagnostic guidelines based on a thorough review of the literature and the authors’ combined expertise based on the evaluation of >10 000 children for potential FASD in clinical settings and in epidemiologic studies in conjunction with National Institute on Alcohol Abuse and Alcoholism– funded studies, the Collaborative Initiative on Fetal Alcohol Spectrum Disorders, and the Collaboration on FASD Prevalence. The guidelines were formulated through conference calls and meetings held at National Institute on Alcohol Abuse and Alcoholism offices in Rockville, MD. Specific areas addressed include the following: precise definition of documented prenatal alcohol exposure; neurobehavioral criteria for diagnosis of fetal alcohol syndrome, partial fetal alcohol syndrome, and alcohol-related neurodevelopmental disorder; revised diagnostic criteria for alcohol- related birth defects; an updated comprehensive research dysmorphology scoring system; and a new lip/philtrum guide for the white population, incorporating a 45-degree view. The guidelines reflect consensus among a large and experienced cadre of FASD investigators in the fields of dysmorphology, epidemiology, neurology, psychology, developmental/ behavioral pediatrics, and educational diagnostics. Their improved clarity and specificity will guide clinicians in accurate diagnosis of infants and children prenatally exposed to alcohol.

A model to prevent fetal alcohol spectrum disorders (FASD) was developed by piloting three separate summits across the United States. The summit model known as Hope for Women in Recovery: Understanding and Addressing the Impact of Prenatal Alcohol Exposure was designed to reach two very important targets for prevention of FASD: women with addictive disorders and state policy makers. The inclusion of both groups provided a unique opportunity for them to learn from each other. The experience taught high risk women about FASD and offered both hope and support for continued recovery. The Summit model served as a catalyst for systemic change in each of the states they were held. This model is an important example of how communities can facilitate positive change in both women that drink as well as to create systemic motivation to better prevent, identify, and treat FASD.

Abstract: Fetal alcohol-spectrum disorders (FASDs) are a collection of physical and neuro- behavioral disabilities caused by prenatal exposure to alcohol. To prevent or mitigate the costly effects of FASD, we must identify mothers at risk for having a child with FASD, so that we may reach them with interventions. Identifying mothers at risk is beneficial at all time points, whether prior to pregnancy, during pregnancy, or following the birth of the child. In this review, three approaches to identifying mothers at risk are explored: using characteristics of the mother and her pregnancy, using laboratory biomarkers, and using self-report assessment of alcohol-consumption risk. At present, all approaches have serious limitations. Research is needed to improve the sensitivity and specificity of biomarkers and screening instruments, and to link them to outcomes as opposed to exposure. Universal self-report screening of all women of childbearing potential should ideally be incorporated into routine obstetric and gynecologic care, followed by brief interventions, including education and personalized feedback for all who consume alcohol, and referral to treatment as indicated. Effective biomarkers or combinations of biomarkers may be used during pregnancy and at birth to determine maternal and fetal alcohol exposure. The combination of self-report and biomarker screening may help identify a greater proportion of women at risk for having a child with FASD, allowing them to access information and treatment, and empowering them to make decisions that benefit their children.

Abstract: Fetal alcohol spectrum disorders (FASD) are the physical and neurodevelopmental outcomes of fetal alcohol exposure. The behavioral phenotype of children with FASD includes difficulties with executive function, memory, planning, processing speed, and attention. Although attention deficit hyperactivity disorder (ADHD) is diagnosed in up to 94% of individuals with heavy prenatal alcohol exposure, the exact relationship between FASD and ADHD is unclear. There is some evidence that ADHD in FASD may be a specific clinical subtype and thus may require a different treatment approach. Although traditional behavioral observation scales may not distinguish between the two groups, there is evidence that children with FASD have a dif- ferent profile on the four-factor model of attention than children with ADHD who do not have FASD. There is a paucity of good scientific evidence on effective interventions for individuals with ADHD and FASD. There is weak evidence that children with FASD and ADHD may have a better response to dexamphetamine than methylphenidate. There is a strong need for larger, high quality studies to examine the relationship between ADHD and FASD and identify effec- tive treatments because management of inattention and hyperactivity may improve learning and ameliorate the common secondary disabilities associated with FASD.

Internationally, five different guidelines have been deve- loped for the diagnosis of fetal alcohol syndrome (FAS) or fetal alcohol spectrum disorders (FASD), three of which were published by national health agencies or proposed for national implementation in North America [1-3]. Existing diagnostic guidelines for FASD have been developed using a range of approaches, including evidence-based consensus development methods [1,2] and studies of large clinical cohorts [4,5]. Although there is not international consensus on the diagnostic criteria for all FASD, more recent published guidelines [1,2,5] share some features based on concepts established in the original Institute of Medicine (IOM) diagnostic criteria [3] and the subsequent case- defined University of Washington (UW) 4-Digit Diagnostic Code [4].

All consumer members of the Collaboration attended the workshop. Workshop participants identified a num- ber of general principles to be included in the design of an instrument for the diagnosis of FASD in Australia. These principles are described elsewhere (Watkins RE, Elliott EJ, Wilkins A, Mutch RC, Fitzpatrick JP, Payne JM, O’Leary CM, Jones HM, Latimer J, Hayes L, Halliday J, D’ Antoine H, Miers S, Russell E, Burns L, McKenzie A, Peadon E, Carter M, Bower C: Recommendations from a consensus development workshop on the diagno- sis of fetal alcohol spectrum disorders in Australia, sub- mitted) and are consistent with statements from the Community Conversations such as the requirement for training of health professionals; suitability of the diag- nostic instrument for use across the lifespan; availability of support for the individual and family; and that par- ents, carers and individuals should be informed about the diagnostic process and provided with access to re- sources. It was also recommended that informed consent should be obtained and recorded prior to the communi- cation of diagnostic findings to third parties such as General Practitioners or teachers.

The magnitude of the detrimental effects following in utero alcohol exposure, including fetal alcohol syndrome and other fetal alcohol spectrum disorders (FASD), is globally underestimated. The effects include irreversible cognitive and behavioral disabilities as a result of abnormal brain development, pre- and postnatal growth retardation and facial dysmorphism. Parental alcohol exposure and its effect on offspring has been recognized for centuries, but only recently have we begun to gain molecular insight into the mechanisms involved in alcohol teratogenesis. Genetic attributes (susceptibility and protective alleles) of the mother and the fetus contribute to the risk of developing FASD and specific additional environmental conditions, including malnutrition, have an important role. The severity of FASD depends on the level of alcohol exposure, the developmental stage at which exposure occurs and the nature of the exposure (chronic or acute), and although the most vulnerable period is during the first trimester, damage can occur throughout gestation. Preconception alcohol exposure can also have a detrimental effect on the offspring. Several developmental pathways are affected in FASD, including nervous system development, growth and remodeling of tissues, as well as metabolic pathways that regulate glucocorticoid signaling and balanced levels of retinol, insulin and nitric oxide. A body of knowledge has accumulated to support the role of environmentally induced epigenetic remodeling during gametogenesis and after conception as a key mechanism for the teratogenic effects of FASD that persist into adulthood. Transgenerational effects are likely to contribute to the global burden of alcohol-related disease. FASD results in lifelong disability and preventative programs should include both maternal alcohol abstention and preconception alcohol avoidance.

The present study begins to address the need for evidence-based approaches for guiding the psychological assessment of children with Fetal Alcohol Spectrum Disorders (FASD). This project represents an impor- tant step toward increasing links between research and practice in the communication and use of assess- ment results for informing intervention decisions. Using a qualitative research approach, the current study contributes to knowledge about concerns with current psychological assessment practices and offers sug- gestions for optimization based on conversations with teachers, administrators, caregivers and allied pro- fessionals. Thematic analysis of 11 focus groups and 3 interviews (N = 60) yielded 3 major findings: the need to focus on the whole child, the necessity of an assessment process that is responsive, and building capacity in the school. This study increases the links between research and practice as we move toward a model of assessment for intervention. Such a model has a strong potential for optimizing assessment prac- tices to better meet the needs of children with FASDs as it promotes a shift that focuses on successful child outcomes regardless of diagnosis.

Thus, the risk of fetal alcohol spectrum disorders (FASD) in this population is likely to be high. FASD is the non- diagnostic umbrella term used to characterize the full range of damage caused by prenatal alcohol exposure, varying from mild to severe, and encompassing a broad array of physi- cal defects and cognitive, behavioral, emotional, and adaptive functioning de fi cits. FASD includes the following 4 diagnoses: fetal alcohol syndrome (FAS), partial FAS (pFAS), alcohol- related neurodevelopmental disorder (ARND), and alcohol-related birth defects (ARBD), all of which may in- clude congenital anomalies, such as malformations and dysplasia of the cardiac, skeletal, renal, ocular, audi- tory, and other systems.

series of short reviews on genetic syndromes. This series was designed to increase awareness of these diseases so that family physicians can recognize and diagnose children with these disor- ders and understand the kind of care they might require in the future. The second review in this series discusses fetal alcohol syndrome and fetal alcohol spectrum disorders. (Am Fam Physician 2005;72:279-82, 285. Copyright© 2005 American Academy of Family Physicians.)

neurodevelopmental disabilities. In 1973, fetal alcohol syndrome was fi rst described as a speci fi c cluster of birth defects resulting from alcohol exposure in utero. Subsequently, research unequivocally revealed that prenatal alcohol exposure causes a broad range of adverse developmental effects. Fetal alcohol spectrum disorder (FASD) is the general term that encompasses the range of adverse effects associated with prenatal alcohol exposure. The diagnostic criteria for fetal alcohol syndrome are speci fi c, and comprehensive efforts are ongoing to establish de fi nitive criteria for diagnosing the other FASDs. A large and growing body of research has led to evidence-based FASD education of professionals and the public, broader prevention initiatives, and recommended treatment approaches based on the following premises:

social, and cognitive disorders (e.g., [4, 43, 46]). Despite the different mechanisms proposed to explain the patho- logy of FASD, growing evidence indicates that maternal immune activation can affect the CNS structure and function in offspring and cause both acute and long- lasting changes in behavior [47]. The present study shows that maternal alcohol drinking not only triggers the release of cytokines/chemokines in maternal blood (IL-1β, MCP-1, and fractalkine) and the brain but also upregulates the levels of MIP-1α, IL-17, and fractalkine in amniotic fluid, and in the cortices of the WT 15-day- old fetuses exposed to ethanol (IL-1β, MIP-1α, and frac- talkine). It is important to reinforce that IL-1β and IL-17 are important pro-inflammatory cytokines and their overexpression is associated with brain injury. For in- stance, IL-1β has been associated with systemic inflam- mation that contributes to acute brain injury [48], while IL-17 blocks neural stem cell proliferation and reduces the number of astrocytes and oligodendrocyte precursor cells by playing a direct role in blocking remyelination and neural repair in CNS damage [49]. Alterations in the mother ’ s immune system and elevated maternal IL- 17 levels have also been seen to promote abnormal cor- tical development and to cause behavioral abnormalities in offspring [50].

Notably the Kappa values indicated excellent agree- ment for questions relating to alcohol use in pregnancy. The exception was question 39 (trimester alcohol con- sumed in pregnancy, Kappa 0.73) for which substantial agreement was found. This supports our expectation that alcohol use would be reported accurately by birth mothers. Our findings are consistent with evidence from other studies indicating that retrospective reporting of alcohol consumption is more accurate than reporting at the time of pregnancy [36-39]. For instance, one study showed that the predictive validity of retrospective reporting of alcohol use (5 years after pregnancy) is high in relation to craniofacial anomalies, and higher than antenatal reporting in relation to other alcohol-related anomalies [38]. Similarly, alcohol consumption reported 14 years after a pregnancy was more predictive of behav- ioural problems in teenagers than reports of consump- tion at the time of pregnancy [37]. Taken together these findings suggest that retrospective reporting is likely to yield valid data on prenatal alcohol exposure.

As acknowledged in the Canadian guidelines, a lack of evidence in key areas, including growth reference stan- dards for all cultural groups, and of screening tools spe- cific and sensitive to prenatal alcohol exposure, limits the effectiveness of the current diagnostic process [7]. Canadian palpebral fissure length growth charts [26], which have recently been found to be applicable to chil- dren in the United States [27], are likely to be suitable for use in Australia; however, their appropriateness requires formal evaluation. Australian standards for In- digenous Australians also need to be developed. The lack of evidence can also be problematic where limita- tions of current diagnostic methods, such as the absence of identified biological markers of alcohol exposure dur- ing pregnancy, preclude the diagnosis of neurodevelop- mental disorders where there is no confirmed evidence of prenatal alcohol exposure, despite information sug- gesting that alcohol exposure is likely. Diagnostic meth- ods for FASD will be facilitated by improvements in medical technology and increased understanding of the disorders [16].

ABSTRACT. Background. The adverse effects of alco- hol on the developing human represent a spectrum of structural anomalies and behavioral and neurocognitive disabilities, most accurately termed fetal alcohol spec- trum disorders (FASD). The first descriptions in the mod- ern medical literature of a distinctly recognizable pattern of malformations associated with maternal alcohol abuse were reported in 1968 and 1973. Since that time, substan- tial progress has been made in developing specific crite- ria for defining and diagnosing this condition. Two sets of diagnostic criteria are now used most widely for eval- uation of children with potential diagnoses in the FASD continuum, ie, the 1996 Institute of Medicine (IOM) cri- teria and the Washington criteria. Although both ap- proaches have improved the clinical delineation of FASD, both suffer from significant drawbacks in their practical application in pediatric practice.

with FASD had an average of 3.7 more ACEs than con- trols. Among subjects with FASD the most prevalent ACEs were: neglect (87%), parental substance abuse (85%), parental separation or divorce (50%) and physical abuse (50%). These data support the concept that in af- fected individuals, FASD symptomatology increases in severity over time. In part, this is due to postnatal expos- ure to adversity, which is potentially preventable. While several other studies have also identified a strong rela- tionship between FASD and increased risk for comorbid mental disorders and developmental disabilities, those studies did not examine the important effect of vulner- ability for ACEs in people with FASD [3, 14, 16, 36].