Evaluation of clinical profile to diagnose Down syndrome with respect to karyotyping as gold standard: a cross-sectional study

Abstract

Background: Down syndrome (DS) is a genetic disorder characterized with trisomy of chromosome 21 with a high prevalence among countries like India. DS patients present clinically with intellectual disability, congenital heart defect and other major abnormalities. Early diagnosis of DS and intervention with supportive care improves the patient care. To study the efficacy/use of Hall’s and Fried’s scoring system in diagnosing DS confirmed with karyotyping.Methods: The patients presented with dysmorphology, intellectual disability or other clinical features of DS are assessed for inclusion using Hall’s and Fried’s scoring in which patients with score ≥3 are included and considered positive. These patients are further confirmed with karyotyping. The results of Hall’s and Fried’s scoring are comparing against karyotyping results to check for its efficacy.Results: The cross-sectional study conducted found males as majorly affected sex (60.4%) for DS and the mean age of child at diagnosis as 6.69±4.84 months in infant stage and 61.86±60.16 months after infant stage. Flat face was present in 100% followed by up slanting palpebral fissures, protruding tongue, abundant neck skin and little digit clinodactyly. ID is seen in all the patients with CHD in 48.8% population and GI abnormalities in 9.3%. Among CHD’s, VSD is majorly seen followed by AVSD.Conclusions: The study found using combined criteria of both Fried’s and Hall’s score/criteria as an excellent screening test to suspect DS in community level compared to an individual score/criteria.