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What is Joubert Syndrome?

Feb 29th, 2024 | by Pauline Chuang

Pauline Chuang

February 29th, 2024

What is Joubert Syndrome?

Joubert syndrome is a rare genetic disorder characterized by the absence or underdevelopment of the cerebellum, a part of the brain that controls balance and coordination. It is estimated that this condition affects 1 in 80,000 to 100,00 newborns.

What is the Cause of Joubert Syndrome?

Joubert Syndrome is caused by mutations in 35 or more genes. The proteins produced from these 35 or more genes play a crucial role in the structure and function of different cells in the body. The mutation of these genes significantly disrupts the communication pathways of the body during fetal development.

What Are Some Common Characteristics of Joubert Syndrome?

  • Loss of muscle control (ataxia)
  • Abnormal breathing patterns (hyperpnea)
  • Low muscle tone (hypotonia)
  • Global developmental delay
  • Intellectual disability (ranging from mild to severe)
  • Skeletal abnormalities (i.e., presence of extra finger or toe)
  • Distinctive facial features (i.e., broad forehead, droopy eyelids, eyes spaced wider)

Joubert can affect organ systems including:

  • Eyes (particularly retinas)
  • Kidney
  • Liver

What Are Some Treatment Options for Joubert Syndrome?

There is currently no cure for Joubert syndrome. Treatments revolve around managing the health problems that may develop within the affected organ system. An individualised and multidisciplinary approach will help a child reach their fullest potential. Physiotherapy may focus on improving motor planning, mobility, muscular strength, and coordination. Occupational therapy may target improving upper limb strength, stability, and posture to support daily activities, such as dressing and eating. Speech and language pathology may support increasing speech intelligibility (i.e., the ability to be understood).

About the Author

As a creative and dedicated physiotherapist, Pauline always strives to create a supportive environment for kids to develop the confidence and competence to reach their goals. She believes in making therapy fun, interactive, and individualised so that it is enjoyable and meaningful to each child. You can spot Pauline at NAPA with the biggest smile, colorful socks, and contagious enthusiasm & positivity.

About NAPA Centre 

Learn about Joubert syndrome and therapy options at NAPA Centre Paediatric therapy clinics in Austalia, UK, and US.NAPA specialises in working with children with physical and neurological delays. In addition to working with children with more common diagnoses such as cerebral palsy and Down syndrome, NAPA has a special interest and expertise with children with rare, multiple and complex conditions. NAPA Centre’s Intensive Model of Therapy (IMOT) is world-renowned, and one of the leading clinics in Australia for paediatric therapy programs with a large multi-discliplinary team of Occupational Therapists, Physiotherapists and Speech Therapists all working together. Families routinely travel from all parts of Sydney, the NSW region, from across Australia and even from the Australasian region to access NAPA’s unique and effective programs for their children.

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