Diagnosis

International Survey of Specialist Fetal Alcohol Spectrum Disorder Diagnostic Clinics: Comparison of Diagnostic Approach and Considerations Regarding the Potential for Unification — Fetal alcohol spectrum disorder (FASD) is a prevalent neurodevelopmental condition. Despite FASD being recognized as a clinical disorder there is no globally agreed set of diagnostic criteria. Accurate and timely diagnosis of FASD is imperative to inform clinical care, optimize outcomes for individuals accessing assessments and their families, as well as for research and prevention strategies. To inform movement towards a unified approach, the present study aimed to capture an international perspective on current FASD diagnostic criteria, as well as potential barriers and facilitators to unification. An online survey was created using REDCap and sent to clinics identified and contacted via internet searches. Quantitative data were presented using descriptive statistics and open-ended questions analysed using content analysis. The survey captured information about each clinic’s current diagnostic approach, whether they would support a unified method, and the barriers and facilitators for a consistent international FASD diagnostic approach. Fifty-five (37.4%) of 147 FASD clinics identified worldwide participated. The majority (n = 50, 90.9%) of respondents supported a unified approach. Content analysis identified a lack of collaboration as a key barrier, while strong leadership in guideline creation and implementation emerged as a central facilitator. These barriers and facilitators can be used to guide future collaborative efforts towards implementing consistent diagnostic criteria.

Diagnosis of fetal alcohol spectrum disorder: current practices and future considerations — This paper discusses the current state of knowledge and practice for diagnosing fetal alcohol spectrum disorder (FASD). The strengths and challenges of different models of diagnosis are compared. Some models require a team approach for evaluation, while other approaches assume that a clinician in his or her office provides a diagnosis based on a review of the patient’s medical and social history, behaviour, and physical examination. The author reviews the emergence of new information from recent advances in genetics, imaging, and electrophysiology that has the potential to lead to changes in practice and improved reliability of an FASD diagnosis.

Assessing for Fetal Alcohol Spectrum Disorder – A Survey of Assessment Measures Used in Alberta, Canada — This study revealed important information about the use of testing measures in FASD assessment and sheds light on the commonalities in practice across clinics in Alberta. Results demonstrate strong convergence of direct and indirect measures to assess brain function. Ultimately, identifying a comprehensive, reliable, and usable testing battery of measures for FASD assessment will improve the clarity and accuracy of the diagnostic process and facilitate advancements in the eld, as well as enable comparisons across clinics.

Computer-Aided Recognition of Facial Attributes for Fetal Alcohol Spectrum Disorders — The detection of facial attributes by computer-based facial recognition software of 2-D images is compared against standard, manual examination in FASD.

Fetal alcohol spectrum disorder: A guideline for diagnosis across the lifespan — Published in 2016, this updates the 2005 Guidelines, incorporating new evidence and our improved understanding of FASD diagnosis. It is intended to assist multidisciplinary teams through this complex diagnosis, leading to improved health services and creating a positive impact on the health and well-being of children and adults with FASD across their lifespan.

Determining Prenatal Alcohol Exposure for a Fetal Alcohol Spectrum Disorder (FASD) Diagnostic Clinic

Deferred diagnosis in children assessed for fetal alcohol spectrum disorder — Early intervention for individuals with FASD is paramount, thus exploring factors that affect the diagnostic process is critical. This process can be complicated by challenges gathering background information, accurately evaluating higher-level cognitive skills across ages, and teasing apart the impact of life adversities from the effects of prenatal alcohol exposure. This study is a retrospective file review of 154 children deferred at their first FASD assessment, and 51 who returned for a second assessment. Data was collected from three Canadian FASD clinics to explore reasons for deferral, the clinical profile of deferred children, why some returning children were diagnosed while others were not, and changes between assessments. Results suggest that deferred children initially lacked evidence of abnormalities sufficient for a diagnosis, presented with areas of relative neurobehavioral strength and difficulty, and children eventually diagnosed with FASD showed significantly more impaired brain function, postnatal risk, and comorbidities than undiagnosed children. These findings provide important insights into the process of clinical assessment for FASD.

Association Between Prenatal Alcohol Exposure and Craniofacial Shape of Children at 12 Months of Age—Children who receive a diagnosis of fetal alcohol spectrum disorder may have a characteristic facial appearance in addition to neurodevelopmental impairment. It is not well understood whether there is a gradient of facial characteristics of children who did not receive a diagnosis of fetal alcohol spectrum disorder but who were exposed to a range of common drinking patterns during pregnancy. The objective of this investigation was to examine the association between dose, frequency, and timing of prenatal alcohol exposure and craniofacial phenotype in 12-month-old children. JAMA Pediatr. Published online June 5, 2017. doi:10.1001/jamapediatrics.2017.0778

A Decision Tree to Identify Children Affected by Prenatal Alcohol Exposure—Study to develop and validate a hierarchical decision tree model that combines neurobehavioral and physical measures to identify children affected by prenatal alcohol exposure even when facial dysmorphology is not present.

The Canadian Guidelines and the Interdisciplinary Clinical Capacity of Canada to Diagnose Fetal Alcohol Spectrum Disorder – In 2005, the CMAJ published the Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis. The intent of this publication was to encourage a more consistent interdisciplinary team approach and diagnostic procedure for FASD diagnoses. That same year, the Canada FASD Research Network (CanFASD) determined the locations and capacity for interdisciplinary FASD diagnosis across Canada. This paper discusses how successfully these Guidelines have been in bringing consistency to FASD clinical work. J Popul Ther Clin Pharmacol Vol 18(3):e494-e499; October 16, 2011. Sterling K Clarren, Jan Lutke, Michelle Sherbuck. Link to Download

Issue Papers

Why FASD Diagnostic Assessment is Important — Early diagnosis of Fetal Alcohol Spectrum Disorder (FASD) allow for an understanding of an individual’s strengths and challenges which facilitates entry into appropriate intervention and support services. In turn, early diagnosis can mitigate the development of difficulties in daily living associated with this neurodevelopmental disability and promote healthier outcomes. Even if individuals do not meet the criteria for a diagnosis of FASD, a comprehensive multidisciplinary assessment process for those who have had prenatal alcohol exposure (PAE) provides important information about learning, behaviour, and physical and mental health that will guide care and appropriate supports. This issue paper outlines the importance of an FASD diagnostic assessment to supporting and improving outcomes for diagnosed individuals and their families.

Diagnostic Assessment of Preschoolers with Prenatal Alcohol Exposure — The purpose of this issue paper is to draw attention to the gap in research focused on FASD diagnosis in preschool aged children and to highlight the benefits of early diagnosis.

Alcohol Consumption and FASD

Dose-response effect of alcohol consumption during pregnancy and prenatal alcohol exposure: A brief review — Fetal Alcohol Spectrum Disorder (FASD) is the most common type of developmental disability worldwide. One of the most important unanswered questions in the field is “how much alcohol in pregnancy is too much?” or what is the “safe” amount of alcohol consumption in pregnancy. The question has been evaluated extensively in humans and in animal models and the answer is not simple unfortunately.

Meconium Screening for FASD in Pregnancy — Identifying prenatal exposure to alcohol is important for prevention and diagnosis, but information about maternal alcohol consumption is often difficult to obtain. It has been suggested that measuring the presence of fatty acid ethyl esters in meconium may be used as a “biomarker” to establish maternal problem drinking.

Two Recent Approaches to FASD Diagnosis: An Issue Paper — Over the last 50 years, a significant amount of research and clinical expertise has been devoted to characterizing the effects of prenatal alcohol exposure on the developing fetus. Simultaneously, a variety of systems and approaches have also emerged to provide diagnostic guidance for the related diagnoses. Fetal Alcohol Spectrum Disorder (FASD) is now widely used to describe the resultant sequelae associated with prenatal alcohol exposure.