Early assessment of clinical complexity and home care in patients affected by trisomy 13 and 18.

PURPOSE

Trisomy 13 and 18 consist of a recurrent pattern of multiple congenital anomalies. The aim of this study was to analyze the clinical characteristics and disease trajectory of a cohort of children with trisomy 13 and 18 followed up by an Italian pediatric palliative care service.

METHODS

A single-center retrospective observational study was conducted examining the medical records of patients with trisomy 13 and 18 seen in the Pediatric Palliatives Care (PPC) center of the University Hospital of Padua from 2007 to 2022.

RESULTS

Seventeen patients were included in the analysis. All were born alive; four children are still alive and only three (23%) died at home. All presented high care complexity, as estimated by ACCAPED index (median 86, range 38-129). The median time to receive care from PPC was 3 months (0-108). All patients' parents shared an advance care plan with the PPC team: 13/17 patients (76%) accepted a do not resuscitate (DNR) order. Approximately 12% of patients received at least one surgery. The trend of survival compared with other cohorts reported in the literature does not appear to differ significantly after the initial stages.

CONCLUSIONS

The possible recognition of an early evolution toward medical complexity and the availability of home care resources and programs are crucial factors in the management of these children. These indices could become a driving factor in the definition of new outcomes that are more patient-oriented, in addition to mortality.

WHAT IS KNOWN

• Trisomy 13 and 18 are serious genetic conditions with high mortality rates. In the last years medical interventions including surgery are being offered more frequently, though the appropriateness of these interventions is still debated.

WHAT IS NEW

• The study emphasizes the crucial role of early referral to specialized pediatric palliative care teams and the coordination they provide enabling families to care for their children at home, even with complex medical needs.