Neonatologia
Lo spettro dei disordini feto-alcolici: una guida per il pediatra
Foetal alcohol spectrum disorders (FASD): a guide for the paediatrician
Gregorio Serra, Giovanni Corsello
Dipartimento di Promozione della Salute e Materno-Infantile, Università di Palermo
Ottobre 2023 - pagg. 515 -520 | DOI: 10.53126/MEB42515
Abstract
Foetal alcohol spectrum disorders are a group of conditions related with the prenatal exposure to alcohol. Affected subjects may manifest a wide variety of birth defects (growth retardation, craniofacial dysmorphisms, malformations) and neurodevelopmental impairments (cognitive, speech, memory and learning disorders). Such anomalies have, as secondary effects, an increased risk of adverse social (school dropout, increased frequency of crimes, reduced ability to work and independent living) and clinical (psychiatric diseases, substances/drugs addiction) outcomes, whose impact could be limited by early diagnosis and treatment. The global prevalence is currently estimated at 7.7 per 1,000 children and young adults (range 4.9-11.7 per 1,000), but the rate is 10 to 40 times higher in at risk population groups (prisons, foster homes). The lack of biological markers or objective tests for FASD diagnosis explains the use of clinical based diagnostic guidelines. Despite a widespread and strong awareness of FASD as a distinct clinical entity, no globally standardized diagnostic criteria are available until now. Accurate and timely diagnosis is necessary to provide the most suitable treatment aimed to improve patients’ and families’ health outcomes, as well as to adequately address scientific research and preventive strategies. This review has been conducted analysing the most recent studies and is proposed as guide and compendium of the main aspects that the paediatrician has to know for a correct diagnosis and an adequate management of patients.
Riassunto
Lo spettro dei disordini feto-alcolici è un gruppo di condizioni correlate con la esposizione prenatale all’alcol. I soggetti affetti possono manifestare un’ampia varietà di difetti congeniti (ritardo di crescita, dismorfismi craniofacciali, malformazioni) e disordini del neurosviluppo (deficit cognitivi, del linguaggio, di memoria e dell’apprendimento). Tali anomalie possono avere effetti secondari sul piano sociale (dispersione scolastica, maggiore frequenza di reati, ridotte capacità lavorative e di vita autonoma) oltre che clinico (patologie psichiatriche, dipendenza da sostanze d’abuso), il cui impatto può essere limitato da diagnosi e trattamento precoci. La prevalenza globale è attualmente stimata in 7,7 ogni 1000 bambini e giovani adulti (range 4,9-11,7 per 1000), ma il dato è da 10 a 40 volte più elevato in gruppi a rischio (strutture penitenziarie, case-famiglia). L’assenza di marcatori biologici o di test oggettivi per la diagnosi spiega la necessità di fare riferimento a criteri diagnostici fondati su dati clinici, a oggi tuttavia non ancora standardizzati. Una diagnosi accurata e tempestiva è necessaria per garantire il trattamento più idoneo e migliorare gli outcome di salute dei pazienti e delle loro famiglie, oltre che per indirizzare correttamente ricerca scientifica e strategie preventive. Questa review è stata condotta analizzando le ricerche scientifiche più recenti e si propone come guida e compendio dei principali aspetti che il pediatra oggi deve conoscere per un corretto inquadramento e un’adeguata gestione dei pazienti.
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Corrispondenza: giocors@alice.it