Related Experiment Videos
Autism and autistic behavior in Joubert syndrome
S Ozonoff1, B J Williams, S Gale
1Department of Psychology, University of Utah, Salt Lake City 84112-0251, USA. ozonoff@psych.utah.edu
Journal of Child Neurology
|October 8, 1999
Summary
Joubert syndrome (JS) may present with autism spectrum disorder (ASD) features. Early social behavior assessment is key for diagnosing ASD in children with JS, impacting clinical management.
Area of Science:
- Neurodevelopmental disorders
- Pediatric neurology
Background:
- Joubert syndrome is a rare genetic disorder affecting cerebellar development.
- Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social and communication deficits.
Purpose of the Study:
- To investigate the prevalence and characteristics of ASD features in children with Joubert syndrome.
- To identify diagnostic markers for ASD in this population.
Main Methods:
- Evaluated 11 children with Joubert syndrome using the Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule-Generic (ADOS-G).
- Assessed adherence to Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV) criteria for autistic disorder and pervasive developmental disorder not otherwise specified.
Main Results:
- Three children met DSM-IV criteria for autistic disorder; one met criteria for pervasive developmental disorder not otherwise specified.
- Seven children exhibited at least one DSM-IV autism symptom but did not meet criteria for a pervasive developmental disorder.
- Total and social symptom counts differentiated autism and nonautism subgroups, unlike communication or repetitive behaviors.
Conclusions:
- Joubert syndrome is associated with a significant prevalence of autism spectrum disorder features.
- Diagnosis of ASD in Joubert syndrome necessitates a focus on early-developing social behaviors.
- Findings suggest implications for understanding the cerebellum's role in nonmotor functions and for clinical management strategies.