Neurobehavioral development in Joubert syndrome

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Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
19:15

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Published on: August 25, 2014

J Gitten1, D Dede, E Fennell

  • 1Department of Clinical and Health Psychology, University of Florida, Gainesville 32610, USA.

Journal of Child Neurology
|August 29, 1998
PubMed

Insights

Joubert syndrome often causes severe neurodevelopmental impairment in children. This study found that the degree of developmental delay is not directly related to the severity of brain malformations in Joubert syndrome.

Area of Science:

  • Neuroscience
  • Developmental Pediatrics
  • Pediatric Neurology

Background:

  • Joubert syndrome is a rare genetic disorder characterized by specific brain abnormalities, primarily affecting the cerebellum and brainstem.
  • While brain structural abnormalities and clinical symptoms are well-documented, objective data on the extent of developmental delay in affected children is lacking.

Purpose of the Study:

  • To objectively assess the neurobehavioral development in a cohort of children with Joubert syndrome.
  • To investigate the relationship between the degree of developmental delay and the severity of central nervous system malformations.

Main Methods:

  • Neurobehavioral assessment using the Child Development Inventory (CDI) completed by 32 parents of children with Joubert syndrome.
  • Magnetic resonance imaging (MRI) was performed on 17 children to evaluate brain structural abnormalities.

Main Results:

  • 94% of children with Joubert syndrome exhibited severe impairment on the CDI.
  • A positive correlation was observed between chronological age and the degree of neurobehavioral impairment.
  • The severity of developmental delay, as measured by CDI, was independent of the severity of midbrain, cerebellar, and cerebral malformations identified via MRI.

Conclusions:

  • Children with Joubert syndrome demonstrate significant neurodevelopmental impairments.
  • The degree of developmental delay in Joubert syndrome does not consistently correlate with the severity of gross central nervous system malformations.

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