Prevalence of minor physical anomalies in children with autism spectrum disorder reporting to a tertiary care hospital Lahore-Pakistan

ANSA RABIA; Saqib Mahmood; Shazia  Maqbool

doi:10.12669/pjms.38.7.6639

Dr. Ansa Rabia University of Health Sciences, Lahore-Pakistan. Department of Anatomy, CMH Lahore Medical College & Institute of Dentistry, Lahore-Pakistan, National University of Medical Sciences, Rawalpindi-Pakistan. https://orcid.org/0000-0002-4068-9282
Saqib Mahmood University of Health Sciences, Lahore-Pakistan.
Dr. Shazia Maqbool Department of Developmental-Behavioral Pediatrics, University of Child Health Sciences & The Children’s Hospital, Lahore-Pakistan.

DOI: https://doi.org/10.12669/pjms.38.7.6639

Keywords: Autism spectrum disorder, Dysmorphic, Minor physical anomalies

Abstract

Objective: To assess the frequency and type of minor physical anomalies (MPAs) in subjects with autism spectrum disorder (ASD).

Methods: 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.

Results: 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.

Conclusions: MPAs associated with ASD are frequently found in, but are clearly not limited to, the head or facial region.

doi: https://doi.org/10.12669/pjms.38.7.6639

How to cite this:
Rabia A, Mahmood S, Maqbool S. Prevalence of minor physical anomalies in children with autism spectrum disorder reporting to a tertiary care hospital Lahore-Pakistan. Pak J Med Sci. 2022;38(7):1918-1923. doi: https://doi.org/10.12669/pjms.38.7.6639

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Author Biographies

Dr. Ansa Rabia, University of Health Sciences, Lahore-Pakistan. Department of Anatomy, CMH Lahore Medical College & Institute of Dentistry, Lahore-Pakistan, National University of Medical Sciences, Rawalpindi-Pakistan.

Professor & Head of Anatomy Dept-IOD

CMH Lahore Medical College, Lahore.

Dr. Shazia Maqbool, Department of Developmental-Behavioral Pediatrics, University of Child Health Sciences & The Children’s Hospital, Lahore-Pakistan.

Professor & Head of Department

Department of Developmental-Behavioral Pediatrics, University of Child Health Sciences & The Children’s Hospital, Lahore-Pakistan.