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What

Joubert syndrome is a rare genetic disorder that affects the part of the brain called the cerebellar vermis that is responsible for controlling the coordination of muscles and thus the body’s ability to attain balance and smooth movement. The most common features include a lack of muscle control, low muscle tone, abnormal breathing patterns, abnormal eye and tongue movements, and sleep apnea (stop breathing during sleep). Mild to moderate mental disabilities can also be present and it is rare to have a child with severe mental limitations.

Who

The rate of incidence is about 1 in every 100,000 births, equally prevalent in males and females.

Signs and Symptoms

Some of the features of Joubert syndrome appear during early infancy, such as the abnormal breathing patterns and eye movements. The following are other signs and symptoms that tend to appear as the infant gets older, keeping in mind that not all of these will be present in order for the infant to have the disorder. *Hypernea (abnormal breathing patterns) usually rapid breathing *Sleep apnea (stop breathing during sleep) *Ataxia (lack of muscle control) with lack of balance and coordinative movements *Low muscle tone *Abnormal eye and tongue movements *Extra fingers and toes *Facial features: *Broad nasal bridge *Cleft lip or palate *Triangular shaped open mouth, usually with the tongue sticking out *Low-set ears *High rounded eyebrows * Nostrils that are tipped forward (often called antiverted nostrils) *Seizures *Mild to moderate mental disabilities *Developmental delays, such as motor and language

Possible Causes

The cause of the child’s problems in Joubert syndrome stems from the under development or lack of an important part of the brain that controls breathing and muscle coordination, the cerebellum vermis. How this abnormality occurs is thought to be from a broken gene that is transferred to the child in an autosomal recessive pattern, meaning that each parent passes along the broken gene to the child in order for Joubert’s syndrome to occur. Unfortunately, the gene linked to this disorder has not yet been discovered, but the genome mapping project is looking for the site.

Diagnosis

Identification of Joubert syndrome is made on the clinical findings presented by the child, first by the unusual facial features, then the abnormal breathing patterns, then the developmental delays of which abnormal muscle movement and weakened strength are common. As the child gets older, more signs as with the seizures and mental disabilities appear. There is no definitive genetic test available to detect Joubert syndrome.

Treatment

Because infants can succumb from the abnormal breathing problems, the most important treatment is to closely monitor the infant’s breathing with a machine called an apnea monitor. This machine is attached to the baby and alarms when the infant stops breathing. Other treatments are physical and occupational therapy to help improve balance, coordination and muscle tone. Speech therapy can assist with articulation and other speech difficulties. Medication is available for controlling the seizures. Currently there is no cure for Joubert syndrome, so treatment is aimed toward the child’s symptoms.

Prognosis

The prognosis for children with Joubert syndrome varies depending on the severity of the motor and mental developmental problems. Some patients have a mild form with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental disabilities. Other than the fluctuating breathing patterns, which can be monitored, the child can lead a normal and healthy life.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Family Village
A well organized website with information about Joubert Syndrome as well as links to discussion forums, frequently asked questions and support groups.

Joubert Syndrome Foundation Corp
Excellent website for parents with a lot of information and resources on Joubert Syndrome.

Google Search for Joubert Syndrome

References and Sources

National Institute of Neurological Disorders and Stroke www.ninds.nih.gov/health_and_medical/disorders/joubert.htm