What are the clinical manifestations of Down syndrome?

What are the clinical manifestations of Down syndrome?

Down syndrome (trisomy 21) is the most common autosomal chromosomal abnormality causing mental retardation. It occurs in approximately 1 in 800 live births. Children with Down syndrome can have associated con-genital defects as well as other medical problems requiring surgical intervention. The anesthetic management of these patients can present many challenges.

The clinical manifestations of Down syndrome that are of particular concern to the anesthesiologist include macroglossia, micrognathia, obstructive sleep apnea, small subglottic area, and recurrent pulmonary infections. Other considerations for the anesthesiologist include hypotonia, atlantoaxial instability, seizure disorders, high arched palate, and varying degrees of mental retardation. The cardiovascular system presents other concerns. Congenital heart defects occur in 30–50% of children with Down syn-drome. These lesions include endocardial cushion defects, ventricular septal defect, atrial septal defect, patent ductus arteriosus, and tetralogy of Fallot. Pulmonary hyperten-sion may also be present. A review of systems specific to the patient with Down syndrome appears in Table 71.1.