Sennsfelder Laëtitia, Guilly Susie, Henkous Sonia, Lebon Christophe, Leruste Sébastien, Beuvain Pauline, Ferroul Fanny, Benard Stéphanie, Payet Frédérique, Nekaa Meissa, Bagard Maité, Lauret Magaly, Hoareau Virginie, Caillier Aurélie, Robin Stéphanie, Lanneaux Justine, Etchebarren Léa, Spodenkiewicz Michel, Alessandri Jean-Luc, Morel Godelieve, Roy-Doray Bérénice
Laboratoire EPI (Etudes Pharmaco-Immunologiques), UFR Santé, Université de La Réunion, CHU (Centre Hospitalier Universitaire) de La Réunion, 97400 Saint-Denis, France.
Service de Génétique, CHU (Centre Hospitalier Universitaire) de La Réunion, La Réunion, 97400 Saint-Denis, France.
Children (Basel). 2024 Aug 7;11(8):955. doi: 10.3390/children11080955.
Despite several diagnostic guidelines, Fetal Alcohol Spectrum Disorders (FASDs) remain underdiagnosed or misdiagnosed, delaying the care of these patients and support for families.
This study aims to help professionals caring for these children and their families to suspect this diagnosis earlier and to provide the most appropriate follow-up.
A retrospective chart review with monocentric recruitment was performed at the Genetics Unit of the University Hospital of Reunion Island. A total of 147 children and adolescents with FASDs were included.
Prenatal alcohol exposure was associated with paternal alcohol consumption in 42.9%, and a high rate of prematurity (33.3%) was observed. Sixty percent of children or adolescents were placed in foster families. Learning difficulties without cognitive deficits were found in 65.8% of cases (50/76). Postural control and fine motor skills disabilities were described, respectively, in 54.7% (35/64) and 72.5% (50/69) of cases. A systematic genetic assessment was carried out, identifying in these FASD patients an associated Copy Number Variation (CNVs) in 22.6% of cases.
Children with FASDs combine significant vulnerabilities, associating exposure to alcohol during the preconception and/or the prenatal period, prematurity, complex familial and sociocultural living conditions, and a genetic anomaly in almost a quarter of cases.
尽管有多项诊断指南,但胎儿酒精谱系障碍(FASD)仍未得到充分诊断或误诊,从而延误了对这些患者的治疗以及对家庭的支持。
本研究旨在帮助照顾这些儿童及其家庭的专业人员更早地怀疑这一诊断,并提供最恰当的后续治疗。
在留尼汪岛大学医院的遗传学部门进行了一项采用单中心招募的回顾性病历审查。共纳入了147名患有FASD的儿童和青少年。
42.9%的病例中,产前酒精暴露与父亲饮酒有关,并且观察到早产率较高(33.3%)。60%的儿童或青少年被安置在寄养家庭。65.8%的病例(50/76)存在无认知缺陷的学习困难。分别有54.7%(35/64)和72.5%(50/69)的病例存在姿势控制和精细运动技能障碍。进行了系统的基因评估,在这些FASD患者中,22.6%的病例发现了相关的拷贝数变异(CNV)。
患有FASD的儿童存在多种显著的脆弱性,包括受孕前和/或孕期接触酒精、早产、复杂的家庭和社会文化生活条件,并且近四分之一的病例存在基因异常。