Department of Psychiatry and Behavioral Neurosciences, Wayne State University School of Medicine, Detroit, MI, USA.
Department of Human Biology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Alcohol Clin Exp Res. 2021 Feb;45(2):395-408. doi: 10.1111/acer.14534. Epub 2021 Feb 9.
This paper reports findings from the first longitudinal study on the evolution of the physical phenotypes of fetal alcohol syndrome (FAS) and partial FAS (PFAS) from early childhood through adolescence.
The sample consisted of 155 children (78 males and 77 females) born to women recruited at an antenatal clinic serving a Cape Coloured (mixed ancestry) population in Cape Town, South Africa. Two expert FASD dysmorphologists, blind regarding prenatal alcohol exposure, independently evaluated each child's growth and dysmorphology at 4 clinics conducted over an 11-year period. Case conferences were held to reach consensus regarding which children had FAS or PFAS growth and physical features using the Revised Institute of Medicine (2005) guidelines.
The prevalence of the physical phenotype was stable across the 4 ages for about half of the children with FAS and about one-third of those with PFAS but more variable for the others. Test-retest reliability was substantial for the FAS phenotype, but poorer for PFAS. Two distinct patterns were seen: a "strong phenotype" that was consistently identified and a less consistent one in which dysmorphic features and/or anthropometric deficits fluctuated or diminished with age. The physical phenotype was most apparent during early childhood and least apparent during puberty, due to differences in timing of the growth spurt and the evolving adult face. Short palpebral features and small head circumference diminished with age, flat philtrum fluctuated, while thin vermilion and weight and height restriction were stable.
Key facial features that characterize FASD in early childhood diminish or evolve in some individuals, making diagnostic examinations that rely on these characteristics most sensitive during early childhood and school age. Moreover, puberty poses classification problems due to variability in timing of the growth spurt. Given that several features and small head circumference diminished with age, many individuals would be misdiagnosed if only examined at a later age.
本研究报告了首个关于胎儿酒精谱系障碍（FAS）和部分胎儿酒精谱系障碍（PFAS）的身体表型从儿童早期到青春期演变的纵向研究结果。
该样本由 155 名儿童（78 名男性和 77 名女性）组成，他们的母亲在南非开普敦的一家产前诊所招募，这些儿童来自于 Cape Coloured（混合血统）人群。两名独立的 FASD 发育障碍专家，在 11 年期间进行的 4 次临床检查中，对每个儿童的生长和发育障碍进行了评估，他们在评估时不知道胎儿的酒精暴露情况。通过使用修订后的美国医学研究所（2005 年）指南，举行病例会议以就哪些儿童具有 FAS 或 PFAS 的生长和身体特征达成共识。
对于大约一半的 FAS 儿童和约三分之一的 PFAS 儿童，其身体表型的患病率在 4 个年龄段是稳定的，但对于其他儿童则更为多变。FAS 表型的测试-重测信度较高，但 PFAS 表型的信度较差。有两种不同的模式：一种是“强表型”，可以始终如一地识别，另一种是不太一致的表型，其中发育障碍特征和/或身体尺寸缺陷随着年龄的增长而波动或减少。由于生长突增和成人面部的演变时间不同，身体表型在儿童早期最为明显，在青春期最为不明显。短睑裂特征和小的头围随着年龄的增长而减少，扁平人中波动，而薄唇红和体重及身高限制则稳定。
在儿童早期表征 FASD 的关键面部特征随着年龄的增长而减少或发生变化，这使得依赖这些特征的诊断检查在儿童早期和学龄期最为敏感。此外，由于生长突增的时间不同，青春期会带来分类问题。由于几个特征和小头围随着年龄的增长而减少，如果仅在以后的年龄进行检查，许多人将被误诊。
