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

• DOI: 10.1007/s00431-025-06020-z
• Publication Date: 2025-02-12T08:24:53Z
• Authors: Anna Zanin; Matteo Patti; Isabella Rosato; Antuan Divisic; Francesca Rusalen; Irene Maghini; Caterina Agosto; Franca Benini
• Keywords: Trisomy; Medical record

Abstract Purpose Trisomy 13 and 18 consist of a recurrent pattern multiple congenital anomalies. The aim this study was to analyze the clinical characteristics disease trajectory cohort children with trisomy followed up by an Italian pediatric palliative care service. Methods A single-center retrospective observational conducted examining medical records patients seen in Pediatric Palliatives Care (PPC) center University Hospital Padua from 2007 2022. Results Seventeen were included analysis. All born alive; four are still alive only three (23%) died at home. presented high complexity, as estimated ACCAPED index (median 86, range 38–129). median time receive PPC 3 months (0–108). patients’ parents shared advance plan team: 13/17 (76%) accepted do not resuscitate (DNR) order. Approximately 12% received least one surgery. trend survival compared other cohorts reported literature does appear differ significantly after initial stages. Conclusions possible recognition early evolution toward complexity availability home resources programs crucial factors management these children. These indices could become driving factor definition new outcomes that more patient-oriented, addition mortality. What is known: • serious genetic conditions mortality rates. In last years interventions including surgery being offered frequently, though appropriateness debated. new: emphasizes role referral specialized teams coordination they provide enabling families for their home, even complex needs.