Objectives
As a result of active participation and successful engagement with this topic, students will be able to:
- Explain the main characteristics of Joubert syndrome.
- Identify strategies that can be used when working with children diagnosed with Joubert syndrome.
- Develop Individualized Family Service Plan goals appropriate for an identified child with Joubert syndrome.
Sample Syllabus
PD Guide
PowerPoint:
Joubert Syndrome and Related Disorders
This presentation examines this rare, autosomal recessive neurological disorder characterized by hypotonia, coordination difficulties, breathing irregularities, abnormal eye movements, and developmental delays. It explains diagnostic approaches using MRI and genetic testing, describing hallmark features such as the “molar tooth sign” in the brain and its association with multiple organ and sensory complications. Learners explore clinical subtypes and related disorders that share overlapping genetic or structural features. The presentation emphasizes the importance of early intervention, including physical, occupational, and speech therapies, along with coordinated care from multidisciplinary professionals. Through a team-based case study on a child with Joubert Syndrome, participants practice developing integrated educational, medical, and family support plans, highlighting the value of collaboration and communication in supporting children with rare genetic disorders and their families
Case Study
Maya is a 36-month-old girl with Joubert Syndrome, showing delays in motor skills, expressive language, and sensory regulation. Follow Maya and her family as they move through diagnosis, assessment, IFSP planning, and early intervention.
Learning Activities
Multimedia Illustrations
- Title with a description
- Link to video
- Suggested citation
- Length of the video
- EI/ECSE standard
- DEC Recommended Practice