Trisomy 18-when the diagnosis is compatible with life.
Advanced care plan
Edwards syndrome
Morbidity
Pediatric palliative care
Survival
Trisomy 18
Journal
European journal of pediatrics
ISSN: 1432-1076
Titre abrégé: Eur J Pediatr
Pays: Germany
ID NLM: 7603873
Informations de publication
Date de publication:
Jul 2022
Jul 2022
Historique:
received:
07
12
2021
accepted:
12
04
2022
revised:
18
03
2022
pubmed:
7
5
2022
medline:
16
6
2022
entrez:
6
5
2022
Statut:
ppublish
Résumé
Trisomy 18 is an autosomal chromosomal disorder characterized by the presence of an extra 18 chromosome. In the last decades, and as novel therapeutic options emerged, a paradigm shift on the treatments available to these children occurred, establishing the need to deepen the knowledge regarding the management/treatment of children diagnosed with trisomy 18. This retrospective cohort study sought to characterize the clinical path and survival of the children with the diagnosis of trisomy 18 followed in a tertiary pediatric hospital between 1995 and 2020. Medical records were reviewed, and epidemiological and clinical features and follow-up data were collected. Six patients were identified, two with mosaicism (33.3%) and four were female (66.7%). All had cardiovascular, cognitive, and physical development anomalies or minor congenital anomalies. Most presented neurological anomalies (n = 4, 66.7%) and feeding difficulties (n = 4, 66.7%). Four children (66.7%) required medical devices or equipment and all required chronic medication. Two children (33.3%) underwent surgical interventions. Four children (66.7%) were hospitalized in the last year of life. Three patients had a do not resuscitate order (50%) but only one child was referred to a pediatric palliative care team (16.7%). One-month, 1-year, and 10-year survival were 66.7% (n = 4), 33.3% (n = 2, both with mosaicism), and 16.7% (n = 1, with mosaicism) respectively. Knowledge of the multiple comorbidities and complex care needs of children with this syndrome is crucial. Every-day care and decisions about invasive treatments may raise ethical issues. Early referral to pediatric palliative care teams is essential to promote a holistic advanced care plan for both the patient and his family. • The increase in survival and the high morbimortality that trisomy 18 still entails demands a careful deliberation on the use of invasive treatment. • Recent studies show that the labels of "incompatible with life"/"lethal" are not adequate, establishing a need to change this mindset. • The development of pediatric palliative care teams in the last decade and early referral allow for an optimal individualized advanced care plan. Under-referral to pediatric palliative care teams persists and efforts must be made to increase awareness of their existence and role in patient care.
Identifiants
pubmed: 35522316
doi: 10.1007/s00431-022-04477-w
pii: 10.1007/s00431-022-04477-w
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2809-2819Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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