Care of Infants and Children With Down Syndrome: Role of the Family Physician

Down syndrome is the most commonly diagnosed chromosomal abnormality, occurring in 1 in 640 live births in the United States each year. Prenatally, cell-free DNA screening or integrated screening (combined first and second trimester screening) for aneuploidy is highly sensitive for identifying Down syndrome. The diagnosis should be confirmed at birth with fluorescence in situ hybridization followed by chromosomal karyotyping. Children with Down syndrome have varied degrees of intellectual disability and more health complications than typical children. Newborns with Down syndrome require a cardiac evaluation including echocardiography. Children with Down syndrome should have annual vision and hearing screenings, and laboratory tests for subclinical thyroid disease and hematologic disorders. Clinicians should provide unbiased and comprehensive culturally sensitive information regarding available services and support for children with Down syndrome and caregivers. Enrollment in comprehensive early intervention programs (eg, speech, visual, physical and occupational therapy, and child psychology) enhances development.