Exploring the Clinical Characteristics, Chromosomal Analysis, and Emotional and Social Considerations in Parents of Children with Down Syndrome

Abstract

Down syndrome, also known as trisomy 21, is a common chromosomal disorder that affects one in every 750/1000 live births. It is characterized by delayed milestones and repeated chest infections, with most children having microcephaly, low set ears, flat nasal bridge, simian crease, umbilical hernia, CVS findings, and repeated ear infections. The risk of Down syndrome increases to 1:20 for mothers over 40 years old. A study examined 30 children with phenotype suggestive of Down syndrome, with a male to female ratio of 0.76:1. The median age at presentation was 7 years, with a minimum of 3 years and a maximum of 12 years. The mean maternal age at child birth was 32 years, with 13.3% of the children born out of consanguineous marriage. The study found that none of the mothers had a history of abortions, and 6.7% had complications during pregnancy. The most common complaint was delay in attainment of mile stones (96.7%) followed by recurrent LRTI & URTI (13.2%), with 2 having heart disease and 1 having family history of asthma. Physical characteristics included microcephaly (86.7%), low set ears, a flat nasal bridge (96.7%), half of the children had simian crease and umbilical hernia (50%), excessive skin on the back (76.7%), muscular hypotonia (66.7%), dermatoses (26.7%), and hypothyroidism (10%). Cerebral findings were found in 15 children (50%), with endocardial cushion defects being the most common. ASD (13.04%) was most common in 12 children, followed by VSD (10.86%), and PDA (4.3%) was present in 4.3%.