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Related Experiment Videos

Follow-up in children with Joubert syndrome

M Steinlin1, M Schmid, K Landau

  • 1University Children's Hospital Zürich, Switzerland.

Neuropediatrics
|August 1, 1997
PubMed
Summary

Joubert syndrome (JS) outcomes vary significantly, with some children facing early mortality and others showing diverse motor and cognitive development. Long-term monitoring for eye and kidney issues is crucial for managing JS progression.

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Area of Science:

  • Pediatric Neurology
  • Genetics
  • Developmental Pediatrics

Background:

  • Joubert syndrome (JS) is a rare genetic disorder.
  • Long-term outcomes and developmental trajectories in JS patients remain incompletely documented.
  • This study focuses on a cohort of 19 children diagnosed with JS.

Purpose of the Study:

  • To document the long-term outcomes of children with Joubert syndrome.
  • To characterize the variability in motor, cognitive, and ophthalmological development.
  • To identify potential prognostic factors and subgroups within the JS population.

Main Methods:

  • Retrospective case series analysis of 19 children with JS from a single institution.
  • Assessment of motor development (age of walking), cognitive development (development quotient - DQ), and oculomotor function.

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  • Documentation of associated features, including retinal and renal involvement.

    • Main Results:

    • Three children (16%) died before age 3 with severe respiratory issues and minimal development.
    • Among 16 survivors, motor development was variable (walking achieved between 2-10 years; 2 non-walkers).
    • Cognitive development ranged from DQ < 30 (n=4) to DQ 60-85 (n=9). Oculomotor issues (nystagmus, apraxia, ptosis, gaze palsy), retinal (n=8), and renal (n=4) involvement were common.

    Conclusions:

    • Joubert syndrome outcomes can be stratified into distinct subgroups, including those with early mortality.
    • Surviving children exhibit variable motor and cognitive development, classifiable into DQ < 30 or DQ 60-85 groups.
    • Ophthalmological and renal manifestations require long-term surveillance due to potential progression.