Prognostic factors, psychomotor development and life of trisomy 13 patients.

Abstract

Patients with trisomy 13 have very high infant mortality. However, aggressive interventions for their complications, can improve their prognosis. Thus, the number of long-term survivors with trisomy 13 may increase. There are no studies on their psychomotor developmental progress. We conducted this survey to clarify the prognostic factors, living situations, and developmental status of patients with trisomy 13. Patients with trisomy 13 who were admitted to the Department of Pediatrics, Jichi Medical University Hospital were enrolled. Their clinical data were investigated retrospectively using clinical records. Nine patients with trisomy 13 were enrolled and divided into the early death (died at <1 year) and long-term survival (survived for >1 year) groups. All early death group patients had severe congenital heart disease. Heart failure at <1 year of age was associated with early death. All long-term survival group patients underwent operations (e.g., tracheostomy or gastrostomy). All of them used a home nursing and/or a social care service. Three patients used home mechanical ventilation. No patients were able to stand alone or speak significant words. Two patients without severe brain anomalies were able to roll over, sit up and smile by three of age. Long-term survivors with trisomy 13 require extensive nursing and medical care. It is important to introduce medical and welfare services to reduce the burden on their families. In patients without severe brain anomalies, psychomotor development may be expected. However, no clear developmental prognostic factors were found.