Impact of genetic diseases on anthropometric parameters – A case–control study

Abstract

A nthropometry is the measurement of physical characteristics of the human body at different ages [1]. It includes taking accurate, highly standardized measurements to objectively depict size and form of body. Anthropometric measurement is an integral part of pediatric examination which includes weight, height or length, head circumference (HC), mid-arm circumference, and body mass index. The data on anthropometric measurements of children reflect general health status, and growth and development overtime [2]. Anthropometry has become an important tool in the study of genetic conditions, particularly as a diagnostic aid for the clinical geneticist [3]. As the best pediatric practice, anthropometric measurements have always played a role as one of the first and best screening tools for growth, nutrition, and development of child.Widely used WHO growth charts are available in the form of digital apps and software for easy access, uploading, and data recovery for pediatricians. Most of the apps will mention only if the parameters are <-3 or more than +3 standard deviations (SD)and not beyond that. The exact SD is important in identifying the severity of growth failure and microcephaly and also they give clues to the genetic mechanisms and diagnostic clues responsible for the reduced somatic growth. We planned this study to calculate the exact SD of the weight, height, and HC in children with global developmental delay (GDD) using "anthropometry calculator" a digital app, based on the WHO growth charts. MATERIALS AND METHODSThis case-control study was done in the Department of Paediatrics of a Medical College of Maharashtra by retrospectively analyzing the data of children admitted between March 2018 and May 2019. Ethical clearance was obtained for the study from the Institutional Ethics Committee. Cases were children of age group 3 months-5 years presenting with GDD to the pediatric genetic clinic during the study period. Diagnostic criteria for GDD included a delay in two or more developmental domains: Gross and fine motor; speech and language; cognition; and personal and social developmental [4]. Those children with intrapartum asphyxia, postnatal central nervous infections, or birth trauma were excluded from the study.