Down Syndrome

This comprehensive review examines Down syndrome as the most common chromosomal condition associated with intellectual disability. It details its genetic basis primarily trisomy 21 and associated clinical manifestations across the lifespan. The article discusses prenatal and postnatal diagnosis, prevalence of congenital anomalies, and coexisting medical conditions such as congenital heart disease, hypothyroidism, and autoimmune disorders. Also addressed are neurodevelopmental outcomes, including intellectual disability, autism, and early-onset Alzheimer’s disease. Emphasis is placed on early intervention, family support, education, health surveillance, and transition to adulthood. The review also highlights disparities in care and the need for evidence-based guidelines to optimize outcomes.

This comprehensive review examines Down syndrome as the most common chromosomal condition associated with intellectual disability. It details its genetic basis primarily trisomy 21 and associated clinical manifestations across the lifespan. The article discusses prenatal and postnatal diagnosis, prevalence of congenital anomalies, and coexisting medical conditions such as congenital heart disease, hypothyroidism, and autoimmune disorders. Also addressed are neurodevelopmental outcomes, including intellectual disability, autism, and early-onset Alzheimer’s disease. Emphasis is placed on early intervention, family support, education, health surveillance, and transition to adulthood. The review also highlights disparities in care and the need for evidence-based guidelines to optimize outcomes.