Follow-up in children with Joubert syndrome

Neuropediatrics. 1997 Aug;28(4):204-11. doi: 10.1055/s-2007-973701.


Although Joubert syndrome (JS) was first reported in 1969 by Joubert et al (21), the long-term outcome is not yet documented. We report 19 children (4 pairs of siblings) from a single institution diagnosed with JS. Nine children were last seen between ages 10 and 18 years, seven between ages 1 and 4 years. Three children died before 3 years of age, showing marked breathing problems and minimal development. The 16 surviving children showed variable motor development, walking was typically achieved between 2 and 10 years, two children did not learn to walk. Cognitive development showed four with development quotient (DQ) of 30 or less and nine with DQ of 60-85, the others could not be judged confidently. Siblings did not show similar development and sex was not predicting outcome. The following oculomotor problems were seen: mystagmus in 11, ocular motor apraxia in six, isolated ptosis in two, and vertical gaze palsy in three. Additional features were retinal involvement in eight and kidney involvement in four, in one of them after normal previous ultrasound. In conclusion development of children with JS can be split into distinct subgroups, with one group dying at a young age. Those who survive show variable motor and cognitive development and can be grouped into those with DQ of less than 30 or those with DQ between 60 and 85. Ophthalmological and renal involvement may change or develop over the years and should be followed carefully.

MeSH terms

  • Adolescent
  • Adult
  • Ataxia / diagnosis
  • Ataxia / genetics
  • Ataxia / physiopathology
  • Cerebellum / abnormalities
  • Child
  • Child, Preschool
  • Cross-Sectional Studies
  • Developmental Disabilities / diagnosis*
  • Developmental Disabilities / genetics
  • Developmental Disabilities / physiopathology
  • Disease Progression
  • Facies*
  • Female
  • Follow-Up Studies
  • Humans
  • Infant, Newborn
  • Intellectual Disability / complications
  • Kidney Diseases / complications
  • Male
  • Mesencephalon / abnormalities
  • Muscle Hypotonia / diagnosis*
  • Muscle Hypotonia / genetics
  • Muscle Hypotonia / physiopathology
  • Ocular Motility Disorders / complications
  • Respiration Disorders / complications
  • Retrospective Studies
  • Survivors / classification
  • Syndrome