Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

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

Journal of Child Neurology
|September 17, 1999
PubMed
Summary

Children with Joubert syndrome exhibit significant cognitive, motor, and language deficits. Most children function in the severely impaired range, impacting development and behavior.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Tuberous sclerosis.

Handbook of clinical neurology·2013
Same author

Expanding CEP290 mutational spectrum in ciliopathies.

American journal of medical genetics. Part A·2009
Same author

Startle reflex hyporeactivity in Parkinson's disease: an emotion-specific or arousal-modulated deficit?

Neuropsychologia·2009
Same author

The Test of Everyday Attention for Children (TEA-Ch): patterns of performance in children with ADHD and clinical controls.

Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence·2005
Same author

Joubert syndrome is not a cause of classical autism.

American journal of medical genetics. Part A·2005
Same author

MMPI-2 profiles of patients with intractable epilepsy.

Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists·2003

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.

Related Experiment Videos

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.