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Published on: July 14, 2023
Management of apnea in infants with trisomy 18
Ryoji Taira1, Hirosuke Inoue1,2, Toru Sawano1,2
1Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Insights
Respiratory support, like positive pressure ventilation (PPV), significantly improves survival rates for infants with trisomy 18 experiencing apnea. Early intervention aids in diagnosing and treating associated epilepsy, enhancing long-term outcomes.
Area of Science:
- Pediatrics
- Genetics
- Neonatology
Background:
- Trisomy 18 (Edwards syndrome) is a genetic disorder associated with significant health complications, including respiratory issues.
- Apnea is a common and serious concern in infants diagnosed with trisomy 18, impacting their survival and quality of life.
Purpose of the Study:
- To investigate the clinical characteristics, management strategies, and outcomes of apnea in infants with trisomy 18.
- To evaluate the effectiveness of respiratory support interventions on survival rates and associated conditions like epilepsy.
Main Methods:
- Retrospective analysis of clinical data from infants with trisomy 18 admitted to Kyushu University Hospital between 2000 and 2018.
- Focus on infants who presented with apnea, comparing outcomes between those receiving positive pressure ventilation (PPV) and those who did not.
Main Results:
- Of 25 eligible infants, 14 experienced apnea. Eight received PPV, showing a higher 1-year survival rate (5/8) compared to non-PPV infants (0/6).
- Five infants on PPV were diagnosed with epilepsy, successfully managed with antiepileptic drugs.
- Postnatal respiratory intervention, particularly PPV, was associated with improved survival and facilitated diagnosis of epilepsy-associated apnea.
Conclusions:
- Respiratory support is a critical intervention for managing apnea in infants with trisomy 18, significantly improving survival chances.
- Enhanced survival due to respiratory support enables better diagnosis and management of comorbidities such as epilepsy, leading to improved overall prognosis.
Abstract:
This case series aimed to characterize the clinical features, management, and outcomes of apnea in infants with trisomy 18. Participants in this study were infants with trisomy 18 who were born alive and admitted to the neonatal intensive care unit in Kyushu University Hospital from 2000 to 2018. Retrospective analysis was performed on clinical data recorded in our department. Twenty-seven infants with trisomy 18 were admitted to our hospital during the study period, of which 25 (nine males, 16 females) were enrolled as eligible participants in this study. Among them, 14 started presenting with apnea from median 3.5 days of age (range 0-47d). In these infants with apnea, eight received respiratory support of positive pressure ventilation (PPV). The 1-year survival rate of infants in the PPV group was higher than that of non-PPV-supported infants (5 out of 8 vs 0 out of 6 infants). Five PPV-supported infants received a diagnosis of epilepsy, which was controlled by antiepileptic drugs. Postnatal respiratory intervention provides better prognosis in infants with trisomy 18. Improved survival leads to accurate diagnosis and treatment of apneic events in association with epilepsy. WHAT THIS PAPER ADDS: Respiratory support is effective against apnea in infants with trisomy 18. Intervention with ventilation provides a higher chance of prolonged survival. Improved survival leads to the accurate diagnosis and treatment of epilepsy-associated apnea.
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