Italian guidelines for the diagnosis and treatment of fetal alcohol spectrum disorders: diagnostic criteria

Fetal Alcohol Spectrum Disorders (FASD) encompass a spectrum of clinical manifestations resulting from maternal alcohol consumption during pregnancy. This condition presents with diverse anomalies including intrauterine and extrauterine growth retardation, phenotypic abnormalities, cerebral structural anomalies, cognitive delays, and behavioral abnormalities. Regrettably, FASD remains an irreversible and epigenetic condition, with total abstention from alcohol during pregnancy being the sole effective preventive measure due to the absence of a viable therapy. Diagnosis typically occurs postnatally, based on a combination of alcohol exposure history and the presence of aforementioned physical or behavioral abnormalities. The diagnosis is not always easy to make even in the post-natal period due to the different subtypes of existing FASD. Indeed, only some of these subtypes cause behavioral or neurodevelopmental abnormalities in the absence of pathognomic physical anomalies. Although the diagnostic criteria are useful, unfortunately, there is a heterogeneity resulting from the different guidelines that are used in different countries. The aim of our review, based on a literature search of online databases including Medline, Medline Complete, PubMed, and Google Scholar, is therefore to provide an overview of the diagnostic criteria used in Italy

Italian guidelines for the diagnosis and treatment of fetal alcohol spectrum disorders: clinical hallmarks

Riassunto. Il disturbo dello spettro feto-alcolico (FASD) è una condizione che si verifica quando una persona è esposta all'alcol durante la gravidanza. Le principali manifestazioni cliniche includono anomalie craniofacciali, ritardo della crescita, difetti alla nascita e cambiamenti nella struttura e nella funzione del cervello. Queste alterazioni possono causare deficit nelle capacità cognitive, nella funzione esecutiva, nella memoria, nella vista, nell'udito, nelle capacità motorie, nel comportamento e nell'adattamento sociale. Gli effetti dell'alcol si estendono oltre il cervello, influenzando altri sistemi tra cui organi sensoriali, cuore e reni. Dato che la diagnosi di FASD implica l'esclusione di altre condizioni, i medici devono avere familiarità con le sue caratteristiche principali per facilitare l'identificazione precoce e implementare strategie sanitarie appropriate per la paziente. Inoltre, c'è un'urgente necessità di strategie di prevenzione primaria incentrate sulla sensibilizzazione sui rischi associati al consumo di alcol durante la gravidanza. Gli articoli estratti in questa rassegna mirano ad analizzare e valutare studi incentrati sulle caratteristiche cliniche osservate nei bambini con la FASD; sono stati reperiti da database online come Medline, Medline Complete e PubMed, che coprono la letteratura pubblicata in lingua inglese tra il 1981 e il 2024, utilizzando termini di ricerca come disturbi dello spettro feto-alcolico, sindrome feto-alcolica, esposizione prenatale all'alcol e difetti alla nascita correlati all'alcol. I dati sottolineano che l'esposizione prenatale all'alcol colpisce principalmente il cervello e le sue funzioni, con conseguenti gravi impatti. Inoltre, si osservano frequentemente anomalie in altri organi vitali come i sistemi sensoriale, cardiovascolare e renale.Fetal Alcohol Spectrum Disorders (FASD) are a condition that arises when a person is exposed to alcohol during pregnancy. The main clinical manifestations include craniofacial anomalies, growth retardation, birth defects and change in brain structure and function. These alterations can result in deficits across various domains such as cognition, executive function, memory, vision, hearing, motor skills, behavior, and social adaptation. The effects of alcohol extend beyond the brain, affecting other systems including sensory organs, heart, and kidneys. Given that diagnosing FASD involves excluding other conditions, it is crucial for physicians to be familiar with its main characteristics to facilitate early identification and implement appropriate health strategies for the patient. Moreover, there is a pressing need for primary prevention strategies centered around raising awareness about the risks associated with alcohol consumption during pregnancy. The articles for this report aimed to analyze and evaluate studies focusing on the clinical features observed in FASD children were sourced from online databases such as Medline, Medline Complete and PubMed, covering literature published between 1981 and 2024, written in English, using search terms such as fetal alcohol spectrum disorders, fetal alcohol syndrome, prenatal alcohol exposure, and alcohol-related birth defects. The evidence gathered underscores that prenatal alcohol exposure primarily affects the brain and its functions, resulting in severe impacts. Furthermore, abnormalities in other vital organs such as the sensory, cardiovascular, and renal systems are frequently observed

Italian guidelines for the diagnosis and treatment of fetal alcohol spectrum disorders: structural abnormalities

Fetal Alcohol Spectrum Disorders (FASD) encompass a range of conditions caused by prenatal alcohol consumption, leading to physical, behavioral, and learning challenges. It is a significant cause of preventable mental disability, with a prevalence rate of 7.7 cases per 1,000 individuals in the Western world. FASD includes various categories such as alcohol-related neurodevelopmental disorders (ARND), alcohol-related birth defects (ARBD), partial fetal alcohol syndrome (pFAS), and FAS. Mortality is primarily linked to external causes and individuals with FAS may have a projected lifespan of around 34 years. This review highlights the key features of FASD, including neurological impact, behavioral abnormalities, placental and congenital malformations, organic abnormalities, and hormonal and immune disruption. Additionally, potential therapeutic approaches for FASD are briefly discussed based on the different manifestations. Prevention remains the most effective strategy to reduce its incidence, although the general population’s understanding of this topic is currently insufficient. Timely diagnosis and intervention are crucial as they can significantly enhance outcomes through appropriate support and management strategies. Increasing awareness among citizens about the detrimental effects of alcohol use disorders on newborn health is of utmost importance

Italian guidelines for the diagnosis and treatment of fetal alcohol spectrum disorders: international diagnostic criteria - differences and similarities

The umbrella term Fetal Alcohol Spectrum Disorders (FASD) brings together under its definition a heterogeneous continuum of disabilities linked by a common etiology and pathogenesis: exposure to alcohol during intrauterine life. Despite extensive research, definitive toxic thresholds remain elusive, underscoring the recommendation for complete alcohol abstinence during pregnancy and lactation. FASD poses diagnostic challenges due to its varied presentations and heterogeneous phenotype. Consequently, no singular diagnostic guideline exists, with multiple expert-driven diagnostic systems globally available. This review aims to synthesize recent and notable guidelines facilitating FASD diagnosis. While efforts were made to include the latest diagnostic systems, determining which scheme is best applied to each individual patient population necessitates clinician discretion. In Italy, the guidelines proposed by Hoyme, revised in 2016, are commonly utilized, yet comparative analysis among guidelines offers valuable insights into their historical context and diagnostic utility. Our discussion explores both similarities and discrepancies among systems for diagnosing FASD, shedding light on their evolution and practical application. The objective of our work was to compare in a practical and precise manner the various existing guidelines used globally regarding the diagnosis of FAS. Our review therefore proposes the diagnostic criteria used by the various working groups and compares them, trying to create a practical comparison between the various guidelines, identifying differences and similarities

Italian guidelines for the diagnosis and treatment of fetal alcohol spectrum disorders: detecting alcohol drinking during pregnancy

Fetal Alcohol Spectrum Disorders (FASD) is an encompassing term used to describe a range of afflictions brought about by the consumption of alcohol during gestation. The detrimental effects primarily manifest in the central nervous system, growth, and distinctive facial features. Given that there are no known treatments for FASD, the meticulous screening for this condition in the earliest stages of pregnancy bears immense significance, ensuring the avoidance of the grievous consequences stemming from exposure to alcohol in utero. Screening measures for FASD encompass the assessment of alcohol biomarkers such as Phosphatidylethanol (PEth) in the maternal bloodstream, Fatty Acid Ethyl Esters (FAEEs) in the meconium, and Ethyl Glucuronide (EtG) in the meconium, maternal urine and hair. In particular, urinary EtG is highly sensitive and could be routinely used in pregnant women for detecting also occasional drinking. Questionnaire evaluations including AUDIT-C, T-ACE, and TWEAK, alongside a detailed Food Diary method to identify alcohol misuse and high-risk pregnancies, are also available. However, these questionnaires might provide an inadequate reflection of alcohol consumption in women due to their inclination to dissemble to comply with prevailing sociocultural expectations. Hence, this comprehensive review advocates for the indispensable integration of alcohol biomarkers detection in the course of pregnancy monitoring, as it constitutes a valuable tool for facilitating FASD screening