Related Experiment Videos
Neurobehavioral development in Joubert syndrome
1Department of Clinical and Health Psychology, University of Florida, Gainesville 32610, USA.
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.
Abstract:
Research on children with Joubert syndrome has focused on brain structural abnormalities and associated clinical symptoms. The degree of developmental delay has not been objectively reported. We investigated the neurobehavioral development of children with Joubert syndrome through neurobehavioral assessment in the largest sample to date. Thirty-two parents of children with Joubert syndrome completed the Child Development Inventory and magnetic resonance imaging (MRI) data was gathered on 17 of these children. Results indicate that 94% were severely impaired according to the Child Development Inventory, with age being positively correlated with degree of neurobehavioral impairment. The average developmental age of our sample was 19 months (63% below chronological age). Severity of illness as measured by the General Development scale of the Child Development Inventory and severity of illness as measured by MRI (overall severity rating) did not yield consistent data regarding severity of the midbrain and cerebellar malformations. Similarly, markers of abnormal cerebral development such as cortical atrophy and delayed myelination were independent of severity of illness ratings on the Child Development Inventory. The degree of developmental delay in Joubert syndrome and the severity of gross central nervous system malformations appear independent.