Joubert Syndrome in Children

When the cerebellar vermis of the brain is underdeveloped or completely absent and the brain stem is considered to be abnormal, a rare condition known as Joubert Syndrome occurs. Joubert Syndrome in children is a rare condition that causes issues with coordination and balance. This rare disorder is caused by an autosomal recessive gene and causes a variety of complications, including low muscle tone, breathing complications and abnormal eye and tongue movements.

Complications occur because the improperly formed cerebellar vermis does not allow the two halves of the Cerebellum to communicate correctly, which also causes the brain stem to function poorly. The brain stem is responsible for essential activities, such as breathing, and when it does not work properly, serious consequences can result.

Symptoms of Joubert Syndrome in Children

Symptoms of Joubert Syndrome in children are usually present during infancy. Common symptoms of Joubert Syndrome during infancy include abnormal breathing, often diagnosed as hyperpnoea, jerky movements of the eyes and slow mental development. Other symptoms of this rare disorder include unnatural movements of the muscles.

In some cases, physical deformities are apparent as well, which commonly include large fingers and toes. Other physical deformities include an abnormal shape of the tongue and abnormal growth of the retina, which often causes visual impairments. It is not uncommon for those with this syndrome to suffer from cysts on the kidneys and learning disabilities.

Treatment for Joubert Syndrome in Children

Unfortunately, there is no current cure for Joubert Syndrome in children; however, with the correct treatments, the severity of the disorder complications can be reduced. Common treatments used for children with this condition include physical therapy to cope with the breathing complications and other physical complications. Speech therapy is also used often to assist those who have difficulty talking due to the syndrome. Many children need special schooling to reduce the severity of the symptoms. Counseling services and support groups are often used to help children with this syndrome and their family learn how to cope with the condition.

It is important to remember, Joubert Syndrome in children often causes a child to have extreme difficulty doing even the simplest of tasks. Often, you are able to find certain methods and techniques that can be used to allow your child to complete these simple tasks in their own way. Practitioners specializing in this condition can often assist with finding methods that will work for your child. If your child has breathing difficulties due to this condition, seek medical attention immediately should their breathing complications worsen.

References:

"Joubert Syndrome" ClevelandClinic
"Joubert Syndrome" WebMD
"Joubert Syndrome" HealthandLifestyle