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: Joubert Syndrome

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.

Sample Learning Activities: Joubert Syndrome

Video Library The video library is a compilation of almost 500 videos that may be used in early childhood intervention pre-service courses or in-service training. Each video contains the following relevant information:

• Title with a description
• Link to video
• Suggested citation
• Length of the video
• EI/ECSE standard
• DEC Recommended Practice

Resources to supplement the syllabus:

·         University of Washington’s Hindbrain Malformation Research Program

·         Joubert Syndrome & Related Disorders Foundation

·         National Organization for Rare Disorders: Joubert Syndrome