AI Article Synopsis

  • This study investigates how comorbidities, like genetic conditions and infections, affect mortality and neurological outcomes in patients with congenital ventriculomegaly.
  • A cohort of 91 patients from Cincinnati Children's Hospital was analyzed, revealing that those with a genetic diagnosis had higher mortality and developmental delay rates compared to those without.
  • The findings suggest that genetic testing should be recommended for patients with congenital ventriculomegaly to inform care and prognosis, as these genetic conditions are linked to poorer outcomes.

Article Abstract

Introduction: This study evaluated whether comorbidities such as genetic conditions, other congenital anomalies, infection, and other exposures impact the mortality rate and/or neurologic outcomes of patients with congenital ventriculomegaly.

Methods: This was a retrospective cohort study that assessed the mortality rate and developmental delay of 91 patients diagnosed with congenital ventriculomegaly followed at Cincinnati Children's Hospital Medical Center between Jan 1, 2010-Dec 31, 2020.

Results: Of the 91 patients included in the study, 20 (22.0%) had a genetic diagnosis. The mortality rate was higher for patients with a genetic diagnosis compared to those without a genetic diagnosis (p=0.022), as was the rate of developmental delay (p=0.026). The presence of comorbidities (confirmed genetic condition, confirmed maternal exposures or infections, and/or additional anomalies) were not associated with an increased risk of mortality nor developmental delay.

Conclusions: Patients diagnosed with congenital ventriculomegaly and a genetic condition have a significantly higher risk of early mortality and developmental delay compared to those without a genetic diagnosis. Therefore, diagnostic genetic testing should be considered after identification of congenital ventriculomegaly to facilitate counseling about prognosis and care management.

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Source
http://dx.doi.org/10.1159/000542269DOI Listing

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