Holmes Lewis B, Hunt Anne-Therese, Will Leslie A, Dhillon Ruby, Deutsch Curtis, Adams Jane
Medical Genetics and Metabolism Unit, Mass General for Children, Salem, Massachusetts, USA.
Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
Am J Med Genet A. 2024 Apr;194(4):e63511. doi: 10.1002/ajmg.a.63511. Epub 2023 Dec 21.
Some children exposed at conception to the antiepileptic drugs (AEDs) phenytoin (PHT), phenobarbital (PB), and carbamazepine (CBZ) have changes in their midface and fingers. It has been suggested that the anticonvulsant-exposed child with these subtle changes in facial features (the "anticonvulsant face") has a greater likelihood of having deficits in IQ in comparison with children exposed to the same anticonvulsants who do not have these features. 115 AED-exposed children (40, PHT; 34, PB; and 41, CBZ) between 6.5 and 16 years of age and 111 unexposed children matched by sex, race, and year in school were evaluated. The evaluations were (WISC-III), physical examination with measurements of facial features and digits and photographs. The AED-exposed children had cephalometric radiographs, but not the unexposed. Each parent had a similar examination of face and hands plus tests of intelligence. These AED-exposed children showed an increased frequency of a short nose and anteverted nares, features of the "anticonvulsant face." Lateral skull radiographs showed a decrease in the angle between the anterior cranial base and nasal bone, which produces anteverted nares. Mean IQs were significantly lower on one or more IQ measures for the children with these facial features. Shortening of the distal phalanges and small fingernails correlated with the presence of a short nose in that child. The findings in 115 children exposed at conception to either phenytoin, phenobarbital, or carbamazepine, as monotherapy, confirmed the hypothesis that those with a short nose and anteverted nares had a lower IQ than exposed children without those features.
一些在胎儿期接触抗癫痫药物(AEDs)苯妥英(PHT)、苯巴比妥(PB)和卡马西平(CBZ)的儿童,其面部中部和手指会出现变化。有人提出,与接触相同抗惊厥药物但没有这些面部特征的儿童相比,面部特征有这些细微变化(“抗惊厥面容”)的接触抗惊厥药物儿童智商出现缺陷的可能性更大。对115名6.5至16岁接触AEDs的儿童(40名接触PHT;34名接触PB;41名接触CBZ)和111名按性别、种族和入学年份匹配的未接触儿童进行了评估。评估包括韦氏儿童智力量表第三版(WISC - III)、面部特征和手指测量的体格检查以及拍照。接触AEDs的儿童进行了头颅侧位X线摄影,未接触的儿童则没有。每位家长都接受了类似的面部和手部检查以及智力测试。这些接触AEDs的儿童出现短鼻和鼻孔前倾的频率增加,这是“抗惊厥面容”的特征。头颅侧位X线片显示前颅底与鼻骨之间的角度减小,从而导致鼻孔前倾。有这些面部特征的儿童在一项或多项智商测量中的平均智商显著较低。远端指骨缩短和指甲小与该儿童短鼻的存在相关。对115名在胎儿期接触苯妥英、苯巴比妥或卡马西平作为单一疗法的儿童的研究结果证实了这一假设,即有短鼻和鼻孔前倾的儿童比没有这些特征的接触药物儿童智商更低。