Rabia Ansa, Mahmood Saqib, Maqbool Shazia
Ansa Rabia, MPhil. University of Health Sciences, Lahore. Department of Anatomy, CMH Lahore Medical College & Institute of Dentistry, Lahore-Pakistan. National University of Medical Sciences, Rawalpindi-Pakistan. University of Health Sciences, Lahore, Pakistan.
Saqib Mahmood, PhD. University of Health Sciences, Lahore, Pakistan.
Pak J Med Sci. 2022 Sep-Oct;38(7):1918-1923. doi: 10.12669/pjms.38.7.6639.
To assess the frequency and type of minor physical anomalies (MPAs) in subjects with autism spectrum disorder (ASD).
This descriptive cross-sectional study was conducted from September, 2016 to October, 2020. Using purposive sampling technique, 147 subjects with ASD were recruited from Children's Hospital and Institute of Child Health (CH & ICH) Lahore, with a confirmed clinical diagnosis by developmental pediatrician, using Diagnostic and Statistical Manual of Mental Disorders (DSM-V). For morphology assessment, 12 body regions of ASD subjects were examined using Autism Dysmorphology Measure (ADM) manual after taking informed consent. Physical measurements (height, weight, head circumference, ear length, philtrum, hand, finger and foot length) were also taken and were compared with the available standard charts.
A total of 381 dysmorphologies were identified in 131 (89.1%) ASD subjects whereas 16 subjects had no dysmorphology at all. Microcephaly was exhibited by 14 (9.5%) subjects, out of which 13 had variable number of dysmorphologies while one had no dysmorphology in other body regions. Out of 131 subjects exhibiting dysmorphologies, there were 108 male and 23 female subjects, with a M:F ratio 4.7:1 whereas microcephaly was observed in 12 male and two female subjects, with a M:F ratio 6:1. The highest number of dysmorphic features were noted in the ears, followed by feet and hair growth pattern.
MPAs associated with ASD are frequently found in, but are clearly not limited to, the head or facial region.
评估自闭症谱系障碍（ASD）患者轻微身体异常（MPA）的频率和类型。
本描述性横断面研究于2016年9月至2020年10月进行。采用立意抽样技术，从拉合尔儿童医院和儿童健康研究所（CH & ICH）招募了147名ASD患者，由发育儿科医生根据《精神疾病诊断与统计手册》（DSM-V）进行确诊。为进行形态学评估，在获得知情同意后，使用自闭症畸形测量手册（ADM）对ASD患者的12个身体部位进行检查。还进行了身体测量（身高、体重、头围、耳长、人中、手、手指和足长），并与现有的标准图表进行比较。
在131名（89.1%）ASD患者中总共发现了381处畸形，而16名患者完全没有畸形。14名（9.5%）患者表现出小头畸形，其中13名有不同数量的畸形，而1名在其他身体部位没有畸形。在131名表现出畸形的患者中，有108名男性和23名女性，男女性别比为4.7:1，而在12名男性和2名女性患者中观察到小头畸形，男女性别比为6:1。畸形特征数量最多的部位是耳朵，其次是脚和头发生长模式。
与ASD相关的MPA常见于头部或面部区域，但显然不仅限于此。
