Abstract：
OBJECTIVE: The diagnoses included within the umbrella term fetal alcohol spectrum disorders (FASD), are based on the documentation of prenatal alcohol exposure (PAE), growth deficits and a pattern of dysmorphic physical features and neurobehavioral impairments. Although 3 key facial features (short palpebral fissures, a smooth philtrum and a thin vermilion of the upper lip) are the only dysmorphic features taken into account for the diagnosis of Fetal Alcohol Syndrome (FAS) or partial FAS (pFAS), several other features are commonly seen in individuals with these diagnoses. The goals of our study were to determine if some of these secondary physical features also occur more frequently in children with alcohol-related neurodevelopmental disorder (ARND) relative to controls, and if a cluster of these features combined in a dysmorphology score could be used to identify those negatively impacted by PAE but who do not have the cardinal physical features that led to a diagnosis of FAS or pFAS.
METHODS: Among 2681 children recruited for the Collaboration on Fetal Alcohol Spectrum Disorders Prevalence (CoFASP) study, 1726 had an FASD or sufficient evidence of PAE having occurred or not in their pregnancy. Children were then categorized into groups using the modified Hoyme diagnostic criteria (FAS (n = 24), pFAS (n = 99) and ARND (n = 87), and No FASD (n = 1516), including those with No FASD and a history of PAE (No FASD/PAE, n = 498) and those with No FASD and no history of PAE (No FASD/No PAE, n = 1018). The frequencies of 26 secondary dysmorphic features were compared among these groups, both individually and combined in non-weighted and weighted dysmorphic scores. Correlations of the total dysmorphic scores with an index of overall cognitive ability were also compared by group status.
RESULTS: Several of these features were significantly more frequent in children with FAS than in those with No FASD diagnosis with or without PAE but not in comparison to those with ARND. The number of features was also significantly higher in the FAS group as compared to all other groups for both weighted and unweighted dysmorphology scores but were not higher in the group with ARND when compared to the groups with No FASD either in the presence or absence of PAE. Although not diagnostic, higher total dysmorphology scores were predictive of lower general cognitive abilities in the group with ARND, suggesting severity of alcohol-related dysmorphology is predictive of severity of alcohol-related neurobehavioral impairment.
CONCLUSIONS: Secondary physical features were not more frequent in children with ARND compared to children without an FASD diagnosis but were a marker for lower cognitive function. The use of secondary physical features to support a diagnosis of ARND was not supported in this sample.
METHODS: Among 2681 children recruited for the Collaboration on Fetal Alcohol Spectrum Disorders Prevalence (CoFASP) study, 1726 had an FASD or sufficient evidence of PAE having occurred or not in their pregnancy. Children were then categorized into groups using the modified Hoyme diagnostic criteria (FAS (n = 24), pFAS (n = 99) and ARND (n = 87), and No FASD (n = 1516), including those with No FASD and a history of PAE (No FASD/PAE, n = 498) and those with No FASD and no history of PAE (No FASD/No PAE, n = 1018). The frequencies of 26 secondary dysmorphic features were compared among these groups, both individually and combined in non-weighted and weighted dysmorphic scores. Correlations of the total dysmorphic scores with an index of overall cognitive ability were also compared by group status.
RESULTS: Several of these features were significantly more frequent in children with FAS than in those with No FASD diagnosis with or without PAE but not in comparison to those with ARND. The number of features was also significantly higher in the FAS group as compared to all other groups for both weighted and unweighted dysmorphology scores but were not higher in the group with ARND when compared to the groups with No FASD either in the presence or absence of PAE. Although not diagnostic, higher total dysmorphology scores were predictive of lower general cognitive abilities in the group with ARND, suggesting severity of alcohol-related dysmorphology is predictive of severity of alcohol-related neurobehavioral impairment.
CONCLUSIONS: Secondary physical features were not more frequent in children with ARND compared to children without an FASD diagnosis but were a marker for lower cognitive function. The use of secondary physical features to support a diagnosis of ARND was not supported in this sample.
摘要：
目的：诊断包括胎儿酒精谱系障碍（FASD），基于产前酒精暴露(PAE)的文件，生长缺陷和畸形的身体特征和神经行为障碍的模式。虽然只有3个关键的面部特征（短睑裂，光滑的hiltrum和上唇薄的朱红色）是诊断胎儿酒精综合症（FAS）或部分FAS（pFAS）所考虑的唯一畸形特征，在有这些诊断的个体中常见其他一些特征.我们研究的目标是确定与酒精相关的神经发育障碍（ARND）儿童相对于对照组是否更频繁地出现这些次要身体特征。如果将这些特征组合在形态学评分中，则可用于识别受PAE负面影响但不具有导致FAS或pFAS诊断的主要身体特征的患者。
方法：在入选胎儿酒精谱系障碍患病率（CoFASP）研究的2681名儿童中，1726有FASD或足够的证据表明他们在怀孕期间发生或没有发生PAE。然后使用改良的Hoyme诊断标准将儿童分组(FAS(n=24)，pFAS(n=99)和ARND(n=87)，无FASD（n=1516），包括那些没有FASD和PAE历史的人(没有FASD/PAE，n=498）和无FASD且无PAE病史（无FASD/无PAE，n=1018)。在这些组中比较了26个次级异形特征的频率，无论是单独的还是组合的非加权和加权的异形分数。还按小组状态比较了总变形得分与总体认知能力指数的相关性。
结果：这些特征中的一些在FAS患儿中的频率明显高于那些没有FASD诊断且有或没有PAE的患儿，但与ARND患儿相比没有。与所有其他组相比，FAS组的加权和未加权形态学评分的特征数量也显着较高，但与存在或不存在PAE的无FASD组相比，ARND组的特征数量均不高。虽然不是诊断，较高的总形态学评分预示着ARND组的一般认知能力较低，提示酒精相关形态学的严重程度可预测酒精相关神经行为障碍的严重程度。
结论：与没有FASD诊断的儿童相比，ARND儿童的次要身体特征并不常见，但却是认知功能较低的标志。本样本不支持使用次要物理特征来支持ARND的诊断。
方法：在入选胎儿酒精谱系障碍患病率（CoFASP）研究的2681名儿童中，1726有FASD或足够的证据表明他们在怀孕期间发生或没有发生PAE。然后使用改良的Hoyme诊断标准将儿童分组(FAS(n=24)，pFAS(n=99)和ARND(n=87)，无FASD（n=1516），包括那些没有FASD和PAE历史的人(没有FASD/PAE，n=498）和无FASD且无PAE病史（无FASD/无PAE，n=1018)。在这些组中比较了26个次级异形特征的频率，无论是单独的还是组合的非加权和加权的异形分数。还按小组状态比较了总变形得分与总体认知能力指数的相关性。
结果：这些特征中的一些在FAS患儿中的频率明显高于那些没有FASD诊断且有或没有PAE的患儿，但与ARND患儿相比没有。与所有其他组相比，FAS组的加权和未加权形态学评分的特征数量也显着较高，但与存在或不存在PAE的无FASD组相比，ARND组的特征数量均不高。虽然不是诊断，较高的总形态学评分预示着ARND组的一般认知能力较低，提示酒精相关形态学的严重程度可预测酒精相关神经行为障碍的严重程度。
结论：与没有FASD诊断的儿童相比，ARND儿童的次要身体特征并不常见，但却是认知功能较低的标志。本样本不支持使用次要物理特征来支持ARND的诊断。
