Medical interventions and survival by gender of children with trisomy 18
Jennifer H Donovan, Genomary Krigbaum, Deborah A Bruns1
1dabruns@siu.edu.
Insights
Medical interventions, including aggressive treatments like surgery, significantly improve survival rates for children with full trisomy 18. This research highlights better outcomes with timely and appropriate care for this rare genetic condition.
Area of Science:
- Pediatric Genetics
- Rare Diseases
- Medical Interventions
Background:
- Historically, children with full trisomy 18 faced limited aggressive medical interventions and low survival rates.
- Recent research indicates more positive outcomes are achievable.
Purpose of the Study:
- To examine the impact of various medical interventions on survival rates in children with full trisomy 18.
- To analyze intervention patterns and outcomes within a cohort of children diagnosed with full trisomy 18.
Main Methods:
- Retrospective analysis of 82 children with full trisomy 18 from the Tracking Rare Incidence Syndromes (TRIS) project database.
- Classification of children into groups based on the highest level of intervention received: hospice/no intervention, necessary interventions (enteral feeding, ventilation), and aggressive interventions (surgery).
Main Results:
- Survival rates were higher in females (76.5%) compared to males (50%).
- Children receiving necessary (56.1%) and aggressive (37.8%) interventions showed improved survival compared to those receiving hospice or no intervention (6.1%).
- Specific interventions like enteral feeding and surgery were utilized by a significant proportion of the cohort.
Conclusions:
- Necessary and aggressive medical interventions are associated with improved outcomes for children with full trisomy 18.
- The findings suggest a need for re-evaluation of treatment protocols for this condition.
- Further research is recommended to explore optimal management strategies and long-term outcomes.
Abstract:
Research has typically shown limited aggressive medical interventions and low survival rates for children with full trisomy 18. Recent studies provide more positive results. This study examined 82 children with full trisomy 18 drawn from the Tracking Rare Incidence Syndromes (TRIS) project database. Children were classified into three groups according to the highest intervention received: "hospice or no intervention" (n = 5, 6.1%), "necessary interventions (enteral feeding, ventilator use)" (n = 46, 56.1%), and "aggressive interventions (surgery)" (n = 31, 37.8%). Seven of 14 male children (50%) and 52 of 68 female children (76.5%) were living at the time of survey completion. Additionally, information about any interventions used during the care of these children was also provided. It was found that three males (37.5%) and 28 females (48.3%) had used hospice care at some point; 12 males (85.7%) and 61 females (89.7%) received enteral feeding at some point; 7 males (58.3%) and 25 females (38.5%) had ventilator; and 7 males (50%) and 33 females (48.5%) underwent some form of surgery. These results suggest improved outcomes when given necessary and aggressive medical interventions. Implications and recommendations for further research are provided. © 2016 Wiley Periodicals, Inc.
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