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意大利胎儿酒精谱系障碍诊断与治疗指南:诊断标准。

Italian Guidelines for the diagnosis and treatment of Fetal Alcohol Spectrum Disorders: diagnostic criteria.

机构信息

Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Italy.

SITAC, Società Italiana per il Trattamento dell'Alcolismo e le sue Complicanze, Rome, Italy.

出版信息

Riv Psichiatr. 2024 Sep-Oct;59(5):195-202. doi: 10.1708/4360.43509.

DOI:10.1708/4360.43509
PMID:39470671
Abstract

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.

摘要

胎儿酒精谱系障碍(FASD)包括一系列由母亲在怀孕期间饮酒引起的临床症状。这种情况表现为多种异常,包括宫内和宫外生长迟缓、表型异常、大脑结构异常、认知延迟和行为异常。遗憾的是,FASD 是一种不可逆转的表观遗传疾病,由于缺乏可行的治疗方法,怀孕期间完全戒酒是唯一有效的预防措施。诊断通常在产后根据酒精暴露史和上述身体或行为异常的存在来进行。即使在产后时期,由于存在不同的 FASD 亚型,诊断也并不总是容易的。事实上,只有这些亚型中的一些在没有特征性身体异常的情况下引起行为或神经发育异常。虽然诊断标准是有用的,但不幸的是,由于不同国家使用的不同指南,存在着异质性。因此,我们的综述旨在通过对包括 Medline、Medline Complete、PubMed 和 Google Scholar 在内的在线数据库进行文献检索,概述意大利使用的诊断标准。

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