Jayaratne Yasas S N, Elsharkawi Ibrahim, Macklin Eric A, Voelz Lauren, Weintraub Gil, Rosen Dennis, Skotko Brian G
Division of Orthodontics, Department of Craniofacial Sciences, University of Connecticut School of Dental Medicine, Farmington, Connecticut.
Down Syndrome Program, Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.
Am J Med Genet A. 2017 Nov;173(11):3013-3021. doi: 10.1002/ajmg.a.38399. Epub 2017 Aug 17.
Obstructive sleep apnea (OSA) occurs at a high prevalence in patients with Down syndrome (DS). A polysomnogram, which is often cumbersome and challenging, remains the gold standard method of diagnosing OSA. OSA in patients with DS is often attributed to skeletal and soft-tissue structural alterations that are characteristic of the DS phenotype; as such, we hypothesized that assessing anthropometric facial measurements may be predictive of OSA in patients with DS. We used the 3dMDface sterophotography system to capture and create 3D facial images, and we subsequently identified facial landmarks using a single, experienced investigator and utilizing proprietary software to calculate inter-landmark distances and angles. We compared our findings with similar data for neurotypically developing participants. We further compared the findings in participants with DS with and without OSA. Participants with DS had maxillomandibular hypoplasia with smaller ear, nose, and eye measurements compared to neurotypically developing peers. We found no statistically significant differences in 3D photogrammetric measurements between participants with DS with or without OSA.
阻塞性睡眠呼吸暂停(OSA)在唐氏综合征(DS)患者中具有较高的患病率。多导睡眠图检查虽然通常繁琐且具有挑战性,但仍然是诊断OSA的金标准方法。DS患者的OSA通常归因于DS表型所特有的骨骼和软组织结构改变;因此,我们推测评估人体测量面部尺寸可能有助于预测DS患者的OSA。我们使用3dMDface立体摄影系统来捕捉和创建3D面部图像,随后由一位经验丰富的研究人员使用专用软件识别面部标志点,并计算标志点之间的距离和角度。我们将研究结果与神经发育正常参与者的类似数据进行了比较。我们还进一步比较了患有和未患有OSA的DS参与者的研究结果。与神经发育正常的同龄人相比,DS参与者存在上颌下颌发育不全,耳朵、鼻子和眼睛的尺寸较小。我们发现患有或未患有OSA的DS参与者在3D摄影测量方面没有统计学上的显著差异。