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Contribution of heritable disorders to mortality in the pediatric intensive care unit
C Cunniff1, J L Carmack, R S Kirby
1Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, USA.
Insights
Heritable disorders cause 19% of pediatric intensive care unit (PICU) deaths. Vital statistics often fail to record these genetic conditions, undercounting their impact.
Area of Science:
- Medical Genetics
- Pediatric Critical Care
- Public Health Statistics
Background:
- Heritable disorders represent a significant, yet often underrecognized, cause of mortality in pediatric intensive care units (PICUs).
- Accurate identification of underlying causes of death is crucial for public health surveillance and targeted interventions.
Purpose of the Study:
- To quantify the proportion of deaths in the PICU attributable to heritable disorders.
- To compare the accuracy of vital statistics in classifying the cause of death versus detailed medical record review.
Main Methods:
- A retrospective review of medical records for all deaths in a university-affiliated PICU over a 5-year period.
- Detailed analysis of patients with suspected heritable conditions, including genetic evaluation status.
- Comparison of identified heritable disorders with the underlying cause of death listed in vital statistics.
Main Results:
- Heritable disorders accounted for 19% (51 of 268) of all PICU deaths.
- These included chromosome abnormalities, recognized syndromes, and developmental defects.
- Vital statistics failed to identify the underlying heritable disorder in 41% of these cases.
Conclusions:
- Heritable disorders are a substantial contributor to PICU mortality.
- Current vital statistics classification systems underascertain heritable disorders as a cause of death.
- Improved classification methods are needed for accurate public health data and interventions.
Objectives:
To determine the percentage of patients dying in the pediatric intensive care unit (PICU) who have heritable disorders and to compare vital statistics classification of underlying cause of death with underlying heritable disorder identified from medical record review.
Design:
Retrospective medical record review.
Setting:
The PICU of a university-affiliated hospital.
Methods:
Medical records were reviewed for all deaths occurring in the PICA over a 5-year period. Further review, including hospital course, clinical findings, and the presence or absence of a genetic evaluation, was accomplished for those patients found to have a chromosome abnormality, recognized syndrome, single major malformation, or unrecognized syndrome. Underlying cause of death classification obtained from the Center for Health Statistics, Arkansas Department of Health was reviewed to determine the frequency with which the underlying heritable disorder was recorded.
Results:
Fifty-one of 268 (19%) deaths during the study period were in patients with heritable disorders. Of these 51 patients, eight (16%) had chromosome abnormalities, 17 (33%) had a recognized syndrome, 15 (29%) had a single primary defect in development, and 11 (22%) had an unrecognized syndrome. Genetic evaluation was carried out on 45% of patients, with the frequency of evaluation differing between categories of patients with heritable conditions. When underlying cause of death from vital statistics classification was reviewed, 21 of 51 (41%) records did not include the underlying heritable disorder.
Conclusions:
Heritable disorders are a frequent cause of mortality in the PICU. Vital statistics classification of underlying cause of death in this population often fails to identify heritable disorders, leading to an underascertainment of these conditions in mortality statistics. Improved cause of death classification procedures will be necessary to target public health interventions to etiology-specific populations.