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Mortality in Joubert syndrome.

Jennifer C Dempsey1, Ian G Phelps1, Ruxandra Bachmann-Gagescu2

  • 1Department of Pediatrics, University of Washington, Seattle, Washington.

American Journal of Medical Genetics. Part A
|April 4, 2017
PubMed
Summary
This summary is machine-generated.

Joubert syndrome (JS) mortality is primarily due to respiratory failure in younger patients and kidney failure in older patients. Identifying risk factors like kidney disease can improve care for JS patients.

Keywords:
Joubert syndromehepatic fibrosismortalitynephronophthisis

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Area of Science:

  • Neurodevelopmental disorders
  • Genetics
  • Pediatric mortality

Background:

  • Joubert syndrome (JS) is a rare, recessively inherited neurodevelopmental disorder.
  • The specific mortality patterns and risk factors in JS patients remain poorly understood.
  • Understanding mortality is crucial for developing clinical guidelines and improving patient outcomes.

Purpose of the Study:

  • To characterize the age and causes of death in individuals with Joubert syndrome.
  • To identify extra-neurological features and genetic factors associated with increased mortality risk in JS.

Main Methods:

  • Retrospective analysis of medical information from 40 deceased individuals with JS.
  • Comparison of deceased JS patients with 525 living JS patients to assess mortality risk factors.
  • Examination of genetic causes in both deceased and living JS cohorts.

Main Results:

  • The mean age of death in the JS cohort was 7.2 years.
  • The primary causes of death were respiratory failure (35%), especially in those under 6 years, and kidney failure (37.5%), more prevalent in older individuals.
  • Associations between mortality risk and kidney disease, liver fibrosis, polydactyly, occipital encephalocele, and specific genetic causes were identified.

Conclusions:

  • Mortality in Joubert syndrome is linked to specific organ system involvement and malformations.
  • Increased monitoring for respiratory compromise, kidney disease, and liver fibrosis is recommended for JS patients.
  • Identifying genetic and extra-neurological factors can help predict and potentially mitigate mortality risk in Joubert syndrome.