Joubert Syndrome

Joubert’s syndrome is a rare disorder that affects the development of the brainstem and the cerebralla vermis during pregnancy. It commonly results in physiological, psychological and visual problems in babies.

The brainstem is responsible for regulating some of the most important bodily functions, including the beating of the heart and breathing and is also involved in controlling body temperature. The cerebralla vermis controls muscle movements, posture and the movement of the eyes. When these parts do not develop properly, there is some degree of dysfunction. The syndrome is named after the doctor who first described its characteristics in 1969.

What causes Joubert’s syndrome?

Joubert’s syndrome is caused by defective genes. However, only some of the genes have so far been identified and research to identify other possible defective genes is ongoing.

There is evidence to suggest that although some cases of Joubert’s syndrome occur sporadically for no known reason, the disorder may be inherited in other cases. Experts believe that the syndrome may be autosomal recessive, which means that if both parents are carriers of the faulty gene, there is a 25 percent chance of the child developing Joubert’s syndrome. If there is family history of Joubert’s syndrome, prenatal testing may be recommended. Genetic testing can also be advised if an ultrasound scan detects underdevelopment of the brain.

The symptoms of Joubert’s syndrome are associated with underdevelopment or abnormal development of two important parts of the brain: the cerebrella vermis and the brainstem.

Diagnosis of Joubert’s syndrome

In cases that have not been diagnosed during pregnancy, an MRI scan might be used to confirm a diagnosis. Genetic testing may also be carried out to detect the defective genes.

What are the symptoms of Joubert’s syndrome?

Symptoms of Joubert’s syndrome include:
Physical symptoms:

• a large head
• a distinguished forehead
• floppiness and lack of muscle tone (known as hypotonia)
• hanging tongue (many children with Joubert’s syndrome tend to hold their mouths open a lot of the time)
• being unsteady on your feet and when sitting up
• delayed development (children usually struggle to learn to crawl and walk)
• an increased risk of kidney impairment caused by the presence of cysts and epilepsy
• breathing difficulties (which can be very serious and are often life-threatening)
• poor vision and difficulty focusing on specific objects

It is also common for children with Joubert’s syndrome to suffer from learning difficulties.

Is there a cure for Joubert’s syndrome?

There is no cure for Joubert’s syndrome and treatments are designed solely to ease symptoms, treat possible complications (such as epilepsy) and make the individual feel more comfortable. Therapies such as speech and language or physiotherapy and learning support at school can also help.

What is the prognosis for Joubert’s syndrome?

The vast majority of children are expected to have a healthy childhood. Development and learning may be slightly delayed and there may be an increased risk of certain health complications, but most children progress well with practical, learning and medical support. There is a risk that in very severe cases breathing difficulties in small babies and infants can be fatal.