Fetal alcohol spectrum disorders in Finland:: Clinical delineation of 77 older children and adolescents
Fetal alcohol spectrum disorders in Finland:: Clinical delineation of 77 older children and adolescents
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DOI：
10.1002/ajmg.a.31037
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发表时间：
2006-01-15
影响因子：
2
通讯作者：
Hoyme, HE
中科院分区：
文献类型：
--
作者：
Autti-Rämö, I;Fagerlund, Å;Hoyme, HE
酒精对发育中的人类的不利影响包括一系列结构异常和行为及神经认知障碍，最准确地称为胎儿酒精谱系障碍（FASD）。我们之前已经提出了对1996年医学研究所诊断标准的修订，用于诊断FASD连续体[胎儿酒精综合征（FAS），部分胎儿酒精综合征（PFAS），酒精相关的出生缺陷（ARBD）和酒精相关的神经发育障碍（ARND）]，允许在临床环境中更可重复和准确的FASD诊断[Hoyme等人，2005年]。NIAAA最近协调并资助了一个国际项目联盟，旨在更完整地描述酒精的致畸谱。其中一个项目位于芬兰。该项目的目的是：（1）在临床上完全表征FASD连续体中具有中度至重度残疾的较大儿童和青少年的结构和学习/行为表型，（2）将FASD畸形和行为表型与CNS结构和功能（即，MRS、MRI相关性）;（3）比较芬兰FASD儿童遗传同质群体与其他群体中观察到的表型。我们最近完成了对芬兰队列中77名儿童的畸形学检查和父母/监护人访谈。本报告的目的是提供这些患者的历史和形态学数据，从而更完整地描述年龄较大的儿童和青少年FASD的临床谱，将表型与其他人群中描述的表型进行对比，并检查加权畸形评分是否可以用作临床和研究辅助工具。所有儿童先前均由芬兰经验丰富的儿科专家诊断为FASD，并且所有儿童在产前均暴露于显著的母亲酒精滥用。年龄8~20岁，平均13岁。在应用修订的IOM诊断标准后，53%的受试者被诊断为FAS，30%为PFAS。12% ARND，5%其他诊断。值得注意的是，尽管智力迟钝或出生缺陷的家族史较为罕见，但43%的儿童有一个或多个兄弟姐妹也被诊断为FAS。89%的母亲在怀孕期间吸烟：其他致畸暴露很少。过去几乎没有人接受过遗传学评估。几乎所有的受试者都从幼儿时期起就居住在多个寄养家庭，并定期接受儿科专家的随访。11%是早产儿。70%表现为产前生长缺陷，45%为小头畸形。除了生长缺陷和主要面部特征，最常见的主要和次要异常是：弯曲指（55%），"曲棍球棒"或其他改变的手掌折痕（51%），屈光不正（40%），斜视（38%），牙齿拥挤（43%）：指甲发育不全（38%）、GU畸形（22%）和先天性心脏病（18%），未观察到"铁轨"耳。(c)2005 Wiley-Liss，Inc.
The adverse effects of alcohol on the developing human comprise a spectrum Of Structural anomalies and behavioral and neurocognitive disabilities, most accurately termed fetal alcohol spectrum disorders (FASD). We previously have proposed revisions to the 1996 Institute of Medicine Diagnostic Criteria for diagnoses in the FASD continuum [fetal alcohol syndrome (FAS), partial fetal alcohol syndrome (PFAS), alcohol related birth defects (ARBD), and alcohol related neurodevelopmental disorder (ARND)], allowing for more reproducible and accurate FASD diagnosis in a clinical setting [Hoyme et al., 2005]. The NIAAA recently has coordinated and funded an international consortium Of Projects aimed at more complete characterization of the teratogenic spectrum of alcohol. One of the projects sites is in Finland. The aims of this project are: (1) to completely clinically characterize the structural and learning/behavioral phenotypes of a large cohort of older children and adolescents with moderate to severe disability within the FASD continuum, (2) to correlate FASD dysmorphology and behavioral phenotypes with CNS Structure and function (i.e., MRS, MRI correlations); (3) to compare the phenotype of a genetically homogeneous population of Finnish children with FASD to that observed in other populations. We have recently completed dysmorphology examination and parent/guardian interviews of the 77 children in the Finnish cohort. The purpose of this report is to present historical and morphometric data on these patients, thereby more completely delineating the clinical spectrum of FASD in older children and adolescents, contrasting the phenotype with that described in other populations and examining whether a weighted dysmorphology score could be used as a clinical and research adjunct When fetal alcohol exposure is suspected. All children were previously diagnosed with FASD by an experienced pediatric specialist in Finland, and all were exposed to significant maternal alcohol abuse prenatally. The sex ratio of the cohort was 0.38 (male: female) and ages ranged from 8 to 20 years, with a mean of 13 years. After application of the Revised IOM Diagnostic Criteria, 53% of the Subjects were diagnosed as having FAS, 30% PFAS. 12% ARND, and 5% other diagnoses. Of note, although a family history of mental retardation or birth defects was rarer 43% of the children had one or more sibling who also carried a diagnosis of FAS. Eighty-nine percent of the mothers smoked cigarettes during gestation: Other teratoexposures were rare. Almost none had undergone,genetics evaluation in the past. Almost all of the Subjects had resided in multiple foster placements since early childhood ad been followed regularly by pediatric specialists. Although 11% were born prematurely. 70% demonstrated prenatal growth deficiency, and 45% were microcephalic. Other than growth deficits and the cardinal facial features, the most common major and minor anomalies noted were: camptodactyly (55%), "hockey stick" or other altered palmar creases (51%), refractive errors (40%), strabismus (38%), dental crowding (43%): nail hypoplasia (38%), GU anomalies (22%), and congenital heart defects (18%), "Railroad track" ears were not observed in this population. (c) 2005 Wiley-Liss, Inc.