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Cognition, behavior, and development in Joubert syndrome
E B Fennell1, J C Gitten, D E Dede
1Department of Clinical and Health Psychology, University of Florida, Gainesville 32610-0165, USA. efennell@hp.ufl.edu
Insights
Children with Joubert syndrome exhibit significant cognitive, motor, and language deficits. Most children function in the severely impaired range, impacting development and behavior.
Area of Science:
- Pediatric Neurology
- Neurodevelopmental Disorders
- Genetics
Background:
- Joubert syndrome is a rare, inherited neurological disorder.
- Characterized by a malformed brainstem and cerebellar vermis.
- Often associated with other congenital anomalies.
Purpose of the Study:
- To investigate the neuropsychological and developmental profiles of children with Joubert syndrome.
- To document behavioral characteristics and care-related challenges.
- To suggest future research directions for this rare disorder.
Main Methods:
- Longitudinal study of 40 children with Joubert syndrome (1994-1998).
- Neuropsychological screening of 10 children.
- Parental reports on developmental milestones and behaviors.
Main Results:
- Neuropsychological screening revealed deficits in cognition, verbal memory, visuomotor skills, motor function, and language.
- Parent reports indicated severe impairment in developmental attainments for most children.
- Behavioral issues included temperament problems, hyperactivity, aggressiveness, dependency, and challenges in physical development and care.
Conclusions:
- Children with Joubert syndrome experience widespread developmental and cognitive impairments.
- Neurologic handicaps significantly affect daily functioning and behavior.
- Further research is crucial to understand and manage Joubert syndrome effectively.
Abstract:
This article reports on a series of studies of children with Joubert syndrome who were examined in three investigations from 1994 through 1998. Neuropsychologic screening of 10 of 40 children showed a variety of deficits in cognition, verbal memory, visuomotor, motor, and language-related tasks. Parent report of developmental attainments revealed only 3 of 40 children functioning in the borderline range, with the rest scoring in the severely impaired range. Parent reports of behaviors revealed problems in temperament, hyperactivity, aggressiveness, and dependency, as well as problems in physical development and care that were felt to be related to their neurologic handicaps. Future directions of research with this rare disorder are suggested.