Fetal Alcohol Spectrum Disorder Research Research Articles

Trends in fetal alcohol spectrum disorder research: Abibliometric review of original articles published between2000 and 2023.

Fetal alcohol spectrum disorder (FASD) is a leading cause of neurodevelopmental disability globally. International organizations have highlighted an urgent need for improved prevention, diagnosis, and support. However, the evidence base needed to inform this is thought to be limited. We conducted two complementary reviews to (i) describe trends in the volume and characteristics of original FASD research articles (Review 1) and (ii) compare the volume of published research on FASD to that of other neurodevelopmental disorders (Review 2). In Review 1, we systematically searched MEDLINE, Embase, CINAHL and PsycInfo for original studies with FASD terms in the title, published between 2000 and 2023. We summarised study characteristics including the article topic(s), sample population, country of origin, and publication year using quantitative content analysis and time-series plots. A total of 854 studies were eligible. Studies showed a relative focus on diagnosis and screening, compared to prevention and intervention. FASD research originated from 31 countries, however most countries (68%) had fewer than 10 articles published over the 23-year review period. In Review 2, we searched PubMed for records published between 2000 and 2023 with FASD, autism, or attention-deficit-hyperactivity disorder (ADHD) terms in the title. We compared the volume of records for these conditions using descriptive statistics and time-series plots. Of the 64,069 records retrieved, 2% were for FASD, compared to 60% for autism and 38% for ADHD. FASD remains considerably under-researched. While there has been an increase in the number of original FASD research articles published annually over time, this is much lower than expected compared to publication trends for other neurodevelopmental conditions, and the wider scientific literature. Further research is needed to understand the impact of FASD across the lifespan, to inform evidence-based policy and support, and to advance progress in strength-based, stigma-reducing approaches to FASD research and practice.

Fetal Alcohol Spectrum Disorder: The Honey Bee as a Social Animal Model.

Animal models have been essential for advancing research of fetal alcohol spectrum disorder (FASD) in humans, but few animal species effectively replicate the behavioural and clinical signs of FASD. The honey bee (Apis mellifera) is a previously unexplored research model for FASD that offers the distinct benefit of highly social behaviour. In this study, we chronically exposed honey bee larvae to incremental concentrations of 0, 3, 6, and 10% ethanol in the larval diet using an in vitro rearing protocol and measured developmental time and survival to adult eclosion, as well as body weight and motor activity of newly emerged adult bees. Larvae reared on 6 and 10% dietary ethanol demonstrated significant, dose-responsive delays to pupation and decreased survival and adult body weight. All ethanol-reared adults showed significantly decreased motor activity. These results suggest that honey bees may be a suitable social animal model for future FASD research.

My Health Coach: Community members' perspectives on a mobile health tool for adults with fetal alcohol spectrum disorders.

Fetal alcohol spectrum disorders (FASD) affect the health and development of people across the lifespan. Adults with FASD experience significant barriers to care. Accessible and scalable solutions are needed. In partnership with members of the International Adult Leadership Collaborative of FASD Changemakers, an international group of adults with FASD, we developed a mobile health (mHealth) application based on self-determination theory (SDT), called "My Health Coach," to promote self-management and health advocacy. This project follows an established user-centered design approach to app development and evaluation, allowing for feedback loops promoting iterative change. Research staff and ALC members co-led online focus groups (n = 26) and an online follow-up survey (n = 26) with adults with FASD to elicit feedback on completed design prototypes. Focus group transcriptions and surveys underwent systemic thematic and theoretical framework analysis. Analyses show overall positive impressions of the My Health Coach app. Participants were enthusiastic about the proposed features and tools the app will provide. Discussions and free responses revealed SDT constructs (autonomy, competence, relatedness) are a strong fit with participants' perceived outcomes shared in their evaluation of the prototype. Interesting recommendations were made for additional features that would further promote SDT constructs. This project demonstrates advantages of community-engaged partnerships in FASD research. Adults with FASD have a strong interest in scalable mHealth tools and described the acceptability of our initial design. App features and tools promoted SDT constructs.

Machine learning approaches to the identification of children affected by prenatal alcohol exposure: A narrative review.

Fetal alcohol spectrum disorders (FASDs) affect at least 0.8% of the population globally. The diagnosis of FASD is uniquely complex, with a heterogeneous physical and neurobehavioral presentation that requires multidisciplinary expertise for diagnosis. Many researchers have begun to incorporate machine learning approaches into FASD research to identify children who are affected by prenatal alcohol exposure, including those with FASD. This narrative review highlights these efforts. Following an introduction to machine learning, we summarize examples from the literature of neurobehavioral screening tools and physiologic markers of exposure. We discuss individual efforts, including models that classify FASD based on parent-reported neurocognitive or behavioral questionnaires, 3D facial imaging, brain imaging, DNA methylation patterns, microRNA profiles, cardiac orienting response, and dysmorphic facial features. We highlight model performance and discuss the limitations of these approaches. We conclude by considering the scalability of these approaches and how these machine learning models, largely developed from clinical samples or highly exposed birth cohorts, may perform in the general population.

Fetal alcohol spectrum disorder and Aboriginal and Torres Strait Islander men: A discussion to be had.

Fetal alcohol spectrum disorder (FASD) is a lifelong disability of varying severity that occurs among individuals prenatally exposed to alcohol. Among Aboriginal and Torres Strait Islander (Indigenous) Australians, the effects of colonisation and ongoing racism could increase the risk of alcohol consumption during pregnancy. Much of the research and the effort towards prevention of and caring for people with FASD in Indigenous communities has been targeted towards women and children. More support and effort towards prevention of FASD is needed across the whole Indigenous community. In this paper, we discuss several areas for increased involvement by Indigenous men in future FASD research, prevention, care and support.

A multi-organ analysis of the role of mTOR in fetal alcohol spectrum disorders.

Alcohol exposure during gestation can lead to fetal alcohol spectrum disorders (FASD), an array of cognitive and physical developmental impairments. Over the past two and a half decades, Mammalian Target of Rapamycin (mTOR) has emerged at the nexus of many fields of study, and has recently been implicated in FASD etiology. mTOR plays an integral role in modulating anabolic and catabolic activities, including protein synthesis and autophagy. These processes are vital for proper development and can have long lasting effects following alcohol exposure, such as impaired hippocampal and synapse formation, reduced brain size, as well as cognitive, behavioral, and memory impairments. We highlight recent advances in the field of FASD, primarily with regard to animal model discoveries and discuss the interaction between alcohol and mTOR in the context of various tissues, including brain, placenta, bone, and muscle, with respect to developmental alcohol exposure paradigms. The current review focuses on novel FASD research within the context of the mTOR signaling and sheds light on mechanistic etiologies at various biological levels including molecular, cellular, and functional, across multiple stages of development and illuminates the dichotomy between the different mTOR complexes and their unique signaling roles.

Patients With Prenatal Alcohol Exposure Frequently Misdiagnosed, Face Multiple Challenges

Patients With Prenatal Alcohol Exposure Frequently Misdiagnosed, Face Multiple Challenges

Nothing About Us Without Us

Background and objective Historically, Fetal Alcohol Spectrum Disorder (FASD) research has been conducted on individuals with lived experience rather than with them. This article draws on feedback from workshops with individuals with lived experience, in which a collaborative approach was followed, drawing on patient-oriented and participatory action research methods. We provide an overview of the feedback, including barriers to participation alongside strategies to address these barriers, facilitating meaningful involvement in the research process. The writing team includes those with lived experience and research backgrounds. In addition, we make a distinction between the experience of those with FASD (what is called “in-body lived experience”) and those that have caregiver experience (what is called “in-home lived experience”). By lowering barriers, the goal is to bring in the many different perspectives of those with lived experience. Material and methods A keynote presentation and two workshops were held in 2018 at an international FASD conference bringing together individuals, families, agencies, and researchers. Participants were asked what they required to participate in FASD research more thoroughly. The goal was to understand barriers to participating in FASD research. In the first workshop (n=65), imagined for general conference participants including caregivers, service providers, policymakers, and researchers but primarily attended by caregivers and service providers, participants were asked to rank barriers through a “dotmocracy” process. Dotmocracy (or dot-voting) is a collaborative prioritization technique commonly used in group facilitation. A tally of the number of dots assigned to each barrier by participants was used to rank the importance of the barriers identified. Small groups discussed strategies to address the top 10 barriers. In the second workshop, composed of adolescents and adults with FASD (n=60), the participants were asked to share the obstacles they faced in research as a collaborator or as a research participant and their suggestions for future research area priorities. Results Participants in the first workshop noted core concerns, including the need for financial support, barriers to informed participation, unconscious bias of researchers, lack of a common language, lack of time and support to participate, absence of shared leadership in the research, perceived absence of benefits for participants, lack of accommodation for the unique needs of individuals with lived experience, scarcity of resources to accommodate those needs and insufficient communication on current FASD research projects. The information from individuals with FASD was similar and focused on the unique needs and barriers to fully participating in FASD research either as a collaborator or research participant. For example, participants identified the need for researchers to accommodate language comprehension differences, memory issues, anxiety, and sensory issues experienced by individuals with FASD. In addition, they identified barriers to participation such as finances, lack of transportation, insecure housing, and childcare demands. Finally, participants noted that FASD is a spectrum disorder and people on all ends of the spectrum need to have a voice. Discussion The workshops provided a wealth of information regarding research areas on which to focus, unique needs and barriers to participation, and their need to have a voice. Research that is attentive to each of these groups’ unique needs will allow for the inclusion of the widest group of individuals that identify as having lived experience relative to FASD. As a result, patient-oriented and participatory action research can be better represented in the field of FASD.

What If? Incorporating the Voices of Those with Lived Experience to Change the Focus of Fetal Alcohol Spectrum Disorder Research

How would our understanding of fetal alcohol spectrum disorder (FASD) be different if FASD research was done in collaboration with individuals with lived experience? We speculate that there would be a better balance between basic science and applied research, focusing on effective interventions and strengths. As members of the Canada FASD Research Network Family Advisory Committee and the Adult FASD Expert Collaboration Team, we provide lived experience perspectives on FASD research and assist in knowledge translation of research results. This article, written by individuals with both in-home and in-body lived experience, in collaboration with researchers, explores the importance and unique contributions of participatory approaches in broadening and shifting the focus of FASD research. We use the term “in-body” to describe the experience of individuals with FASD, and the term “in-home” refers to the experience of those who live with individuals with FASD such as caregivers, siblings, and spouses. The collaboration between researchers and people with lived experience has not only expanded the scope of FASD research, but has also helped to disseminate the information obtained through research into the hands of those who need it most: individuals with FASD and their caregivers, frontline service providers, and FASD policy makers. We believe that participatory research with individuals with lived experience will lead to the development of more effective intervention strategies, encourage strengths and resilience, and facilitate better outcomes and an enhanced feeling of support from the FASD research community for individuals living with FASD. This will, in turn, identify successes and reduce stigmatization for individuals with FASD and their caregivers.

It takes a village: Influencing policy and practice to prevent alcohol use in pregnancy and promote better outcomes for individuals living with Fetal Alcohol Spectrum Disorder

Fetal Alcohol Spectrum Disorder (FASD) is a neurodevelopmental disorder caused by exposure to alcohol in utero. It has pervasive, lifelong impacts and is recognised as a major public health concern in many countries where alcohol is used. The FASD Research Australia Centre of Research Excellence (CRE) was funded by the National Health and Medical Research Council to generate and translate evidence to address prevention, diagnosis, and management of FASD in Australia. The current paper describes the approach to policy and practice impact taken by our CRE, including our stakeholder engagement processes and the key principles that underlie our approach. We provide examples of policy and practice influence in FASD prevention, diagnosis and management that have been achieved over the past five years and discuss challenges that are routinely faced in the translation of our work.

Balancing the story of fetal alcohol spectrum disorder: A narrative review of the literature on strengths.

For many years, researchers have explored the complex challenges experienced by individuals with fetal alcohol spectrum disorder (FASD). This research has been important for documenting the brain‐ and body‐based impacts of prenatal alcohol exposure and the psychosocial vulnerabilities and environmental adversities frequently associated with FASD. It has also supported advocacy efforts and highlighted the necessity of providing FASD services and supports. However, with the focus on deficits and needs, there is a considerable gap in the literature on the strengths and successes of individuals with FASD. The lack of strengths‐based FASD research has likely perpetuated the stress and stigma experienced by individuals with FASD and their families. Thus, there is a critical need to shift the direction of the field. Here we provide a narrative review of the literature on strengths in FASD. Our goals are to: (1) understand the state of strengths‐based research related to individuals with FASD across the lifespan, and (2) describe positive characteristics, talents, and abilities of individuals with FASD that may be cultivated to promote their fulfillment and well‐being. We identified a total of 19 studies, most of which were conducted to explore the lived experiences of adults with FASD. This preliminary but critical body of evidence highlights the intrinsic strengths of individuals with FASD, including strong self‐awareness, receptiveness to support, capacity for human connection, perseverance through challenges, and hope for the future. Despite the importance of this emerging evidence, appraisal of the literature indicates a need for more intentional, methodologically rigorous, participatory, and theory‐driven research in this area. Findings from this study, including the identified gaps in the literature, can be used to inform research, practice, and policy to meaningfully advance the field of FASD and promote positive outcomes in this population.

Epigenetic Impacts of Early Life Stress in Fetal Alcohol Spectrum Disorders Shape the Neurodevelopmental Continuum.

Neurodevelopment in humans is a long, elaborate, and highly coordinated process involving three trimesters of prenatal development followed by decades of postnatal development and maturation. Throughout this period, the brain is highly sensitive and responsive to the external environment, which may provide a range of inputs leading to positive or negative outcomes. Fetal alcohol spectrum disorders (FASD) result from prenatal alcohol exposure (PAE). Although the molecular mechanisms of FASD are not fully characterized, they involve alterations to the regulation of gene expression via epigenetic marks. As in the prenatal stages, the postnatal period of neurodevelopment is also sensitive to environmental inputs. Often this sensitivity is reflected in children facing adverse conditions, such as maternal separation. This exposure to early life stress (ELS) is implicated in the manifestation of various behavioral abnormalities. Most FASD research has focused exclusively on the effect of prenatal ethanol exposure in isolation. Here, we review the research into the effect of prenatal ethanol exposure and ELS, with a focus on the continuum of epigenomic and transcriptomic alterations. Interestingly, a select few experiments have assessed the cumulative effect of prenatal alcohol and postnatal maternal separation stress. Regulatory regions of different sets of genes are affected by both treatments independently, and a unique set of genes are affected by the combination of treatments. Notably, epigenetic and gene expression changes converge at the clustered protocadherin locus and oxidative stress pathway. Functional studies using epigenetic editing may elucidate individual contributions of regulatory regions for hub genes and further profiling efforts may lead to the development of non-invasive methods to identify children at risk. Taken together, the results favor the potential to improve neurodevelopmental outcomes by epigenetic management of children born with FASD using favorable postnatal conditions with or without therapeutic interventions.

It takes a village: Influencing policy and practice to prevent alcohol use in pregnancy and promote better outcomes for individuals living with Fetal Alcohol Spectrum Disorder.

Fetal Alcohol Spectrum Disorder (FASD) is a neurodevelopmental disorder caused by exposure to alcohol in utero. It has pervasive, lifelong impacts and is recognised as a major public health concern in many countries where alcohol is used. The FASD Research Australia Centre of Research Excellence (CRE) was funded by the National Health and Medical Research Council to generate and translate evidence to address prevention, diagnosis, and management of FASD in Australia. The current paper describes the approach to policy and practice impact taken by our CRE, including our stakeholder engagement processes and the key principles that underlie our approach. We provide examples of policy and practice influence in FASD prevention, diagnosis and management that have been achieved over the past five years and discuss challenges that are routinely faced in the translation of our work.

Community Priority setting for Fetal Alcohol Spectrum Disorder Research in Australia.

IntroductionFetal Alcohol Spectrum Disorder (FASD) is a neurodevelopmental disorder caused by prenatal alcohol exposure (PAE). FASD research is a rapidly growing field that crosses multiple disciplines. To ensure research is relevant and meaningful for people living with FASD, their families, and the broader public there is a need to engage community members in setting priorities for research.ObjectivesOur primary objective was to formally identify the views of people living with FASD, their parents/caregivers, service providers, and the general community on the research priorities for FASD and alcohol use in pregnancy in Australia. Our secondary objective was to provide an overview of current research in the highest priority areas identified.MethodsThe approach for this study involved two community surveys and a consensus workshop, followed by a rapid literature review. Survey responses (n = 146) were collected and grouped using qualitative thematic analysis. The themes identified were then ranked in a second survey (n = 45). The 22 highest ranked themes were considered in a workshop with 21 community members, and consensus on the top ten priority areas was sought. The priority areas were grouped into conceptually similar topics and rapid literature reviews were undertaken on each.ResultsA diverse range of priorities was identified within key areas of prevention, diagnosis, and therapy. On request from participants, separate priority lists were developed by Aboriginal and non-Aboriginal participants.ConclusionThere is need for a national network of researchers to take forward the research commenced by the Centre of Research Excellence, FASD Research Australia, in addressing community priorities.Key WordsCommunity, priorities, FASD, rapid review, Australia

Community Priority setting for Fetal Alcohol Spectrum Disorder Research in Australia

IntroductionFetal Alcohol Spectrum Disorder (FASD) is a neurodevelopmental disorder caused by prenatal alcoholexposure (PAE). FASD research is a rapidly growing field that crosses multiple disciplines. To ensureresearch is relevant and meaningful for people living with FASD, their families, and the broader publicthere is a need to engage community members in setting priorities for research.
 ObjectivesOur primary objective was to formally identify the views of people living with FASD, their par-ents/caregivers, service providers, and the general community on the research priorities for FASDand alcohol use in pregnancy in Australia. Our secondary objective was to provide an overview ofcurrent research in the highest priority areas identified.
 MethodsThe approach for this study involved two community surveys and a consensus workshop, followed bya rapid literature review. Survey responses (n = 146) were collected and grouped using qualitativethematic analysis. The themes identified were then ranked in a second survey (n = 45). The 22highest ranked themes were considered in a workshop with 21 community members, and consensuson the top ten priority areas was sought. The priority areas were grouped into conceptually similartopics and rapid literature reviews were undertaken on each.
 ResultsA diverse range of priorities was identified within key areas of prevention, diagnosis, and therapy. Onrequest from participants, separate priority lists were developed by Aboriginal and non-Aboriginalparticipants.
 ConclusionsThere is need for a national network of researchers to take forward the research commenced by theCentre of Research Excellence, FASD Research Australia, in addressing community priorities.

Finding answers, improving outcomes: a case study of the Canada fetal alcohol spectrum disorder research network

Purpose The purpose of this paper is to present a profile of the Canada fetal alcohol spectrum disorder (CanFASD) research network which is descriptive in nature and profiles the work of the network and its national activities. CanFASD is a unique Canadian, non-governmental organization whose aim is to engage cross-disciplinary research and knowledge translation for stakeholders and partners including communities, policy makers and governments. Design/methodology/approach A case study approach was undertaken to describe the network whose main focus and purpose is specifically research related to FASD. Findings The creation of CanFASD has contributed to a strong network of researchers on key topic areas including diagnosis, prevention, intervention, justice and child welfare, with a focus on evidence-based decision making, research and knowledge exchange. A key role of the network is to provide access to research and education on FASD nationally. Research limitations/implications A case study approach, while descriptive, does not provide the details of specific research projects. Originality/value CanFASD has had a key role in stimulating meaningful dialogue and research in the field of FASD. The need exists to collaboratively work on a national and international basis in response to the distinct challenges posed by FASD for individuals, families and society.

Systematic literature review on which maternal alcohol behaviours are related to fetal alcohol spectrum disorders (FASD)

ObjectivesFetal alcohol spectrum disorders (FASD) is a worldwide problem. Maternal alcohol consumption is an important risk factor for FASD. It remains unknown which alcohol consumption patterns most strongly predict FASD....

The contributions of Dr. Kathleen K. Sulik to fetal alcohol spectrum disorders research and prevention.

Dr. Kathleen Sulik (Kathy) has spent 35 years studying fetal alcohol syndrome (FAS) and fetal alcohol spectrum disorders (FASD). Beginning with her landmark 1981 Science paper describing the early gestational window when alcohol can cause the craniofacial malformations characteristic of FAS, Kathy has contributed a vast amount of research furthering our knowledge of FASD. After her seminal work that definitively demonstrated that alcohol is the causative factor in FAS, she and her lab went on to explore and define the stage-dependent effects of early gestational alcohol exposure on the face and brain in numerous different ways throughout her career. She explored and discovered numerous mechanisms of alcohol's effects on the embryo, as well as describing several genetic factors that can modify susceptibility to developmental alcohol exposure. She did not restrict her research to the face and brain; her lab described in intricate detail the effects of developmental alcohol exposure on many different organs, including the heart, ears, kidneys, and limbs. In addition to her research, and in conjunction with NIAAA and the National Organization on Fetal Alcohol Syndrome (NOFAS), Kathy developed several FASD prevention curricula that are still in use today. Finally, as part of her drive to eradicate FAS and FASD, Kathy labored tirelessly with public policy makers to change how FASD is viewed by the public, how FASD is identified in affected individuals, and how FASD is studied by researchers. While no article could fully cover Kathy's contributions to FASD research and prevention, or her other contributions to embryology and teratology, this review will attempt to illustrate some of the highlights of Kathy's remarkable career.

Xenopus embryos to study fetal alcohol syndrome, a model for environmental teratogenesis.

Vertebrate model systems are central to characterize the outcomes of ethanol exposure and the etiology of fetal alcohol spectrum disorder (FASD), taking advantage of their genetic and morphological closeness and similarity to humans. We discuss the contribution of amphibian embryos to FASD research, focusing on Xenopus embryos. The Xenopus experimental system is characterized by external development and accessibility throughout embryogenesis, large clutch sizes, gene and protein activity manipulation, transgenesis and genome editing, convenient chemical treatment, explants and conjugates, and many other experimental approaches. Taking advantage of these methods, many insights regarding FASD have been obtained. These studies characterized the malformations induced by ethanol including quantitative analysis of craniofacial malformations, induction of fetal growth restriction, delay in gut maturation, and defects in the differentiation of the neural crest. Mechanistic, biochemical, and molecular studies in Xenopus embryos identified early gastrula as the high alcohol sensitivity window, targeting the embryonic organizer and inducing a delay in gastrulation movements. Frog embryos have also served to demonstrate the involvement of reduced retinoic acid production and an increase in reactive oxygen species in FASD. Amphibian embryos have helped pave the way for our mechanistic, molecular, and biochemical understanding of the etiology and pathophysiology of FASD.

Neuropsychological Aspects of Prevention and Intervention for FASD in South Africa

Twenty years of collaborative epidemiology research in South Africa have revealed the highest reported rates of fetal alcohol spectrum disorders (FASD) in the world. The FASD research in South Africa has now expanded beyond prevalence research to maternal risk factor studies, longitudinal development studies, brain imaging studies, school intervention studies, and comprehensive prevention studies. The burden presented by the high numbers of affected individuals in South Africa is significant and a call to action is needed. This paper will outline the prevalence of FASD, review the South African governmental responses to the problem, report on the FASD research that has been completed, describe the prevention and intervention efforts that have been implemented, and outline how pediatric neuropsychologists and school psychologists can work with stakeholders to improve the lives of affected individuals and their families.