Joubert Syndrome is one of the very rare disease which affects the brain functioning. It is referred as the brain malfunctioning and caused due to the underdevelopment of the Cerebellar Vermis. This is an area where the balancing and coordination are controlled in the brain. Due to the malfunctioning of the area the brain and the patient suffer many causalities. The most common example of the noncoordination is the inability of the movement for the voluntary muscle. Apart from this it may also cause physical deformities. The syndrome is very rare; however, the development of the disease may actually impact the patient by large and can cause huge problems in breathing and other necessary functions. It may also result in Mental Retardation of the patient. The syndrome is generally observed in the infants. It is classified under one of the genetic diseases. The cause of the syndrome is generally genetic mutation. The disease has a great chance of inheritance, and it has been noticed that the Joubert Syndrome is inherited from either of the parents.
Symptoms of Joubert Syndrome
The symptoms of the Joubert Syndrome vary from the mild to severely depending upon the criticality of the issue. However, majority of the infant patient have some common symptoms which indicate the presence of Joubert Syndrome in the baby. Considering the hazardousness and criticality of the disease it is important to observe and understand the symptoms of the disease.
As part of the physical appearance, infants clearly show some common features which are abnormal in nature. The head of the baby remains very large along with prominent and broad forehead. The nose also looks very broad and looks abnormal. Apart from it, the babies tend to remain mouth opened with stretching out tongue. All the symptoms indicate the presence of the Joubert Syndrome.
Hypotonia and Ataxia are very common in the Joubert Syndrome patient. These two refer to as the floppiness and unsteadiness in some extent. The delay in development and learning is another issue that is widely observed in the patients.
Eye movements are also very common among the infants. The poor vision and lack of eye movements very well indicate the Joubert Syndrome among infants. It has been observed that the infants suffering from the Joubert Syndrome generally cannot move their eyes to see any particular object. This is also called as the Oculomotor Apraxia.
Learning capabilities of the children become a huge problem. It has been observed that children cannot pick up language or speech due to lack of brain functioning. The children might also show very serious behavioral problems. Children might have epilepsy also due to Joubert Syndrome.
Joubert Syndrome does not impact only brain. It can also impact the kidney due to cyst problem that often leads to kidney infection.
Breathing problem is however the most common issue faced by the infants suffering from the Joubert Syndrome. The children having mild effect of Joubert Syndrome can improve with the progress of time but in severe cases they might succumb to the Joubert Syndrome.
Treatment of Joubert Syndrome
The treatment for the Joubert Syndrome is more of supportive than curing. The therapy to help the children overcome the brain underdevelopment may benefit them. However, it is dependent on the individual and may not be as effective for everyone. Consistent monitoring for the liver, kidney and breathing problem might help the infants to face the challenges for Joubert Syndrome. Monitoring of eye movements and vision treatment are also beneficial for some infants. However, there is no specified course of treatment for the Joubert Syndrome.
Prognosis of Joubert Syndrome
The prognosis of the infants for Joubert Syndrome entirely depends upon the severity of the syndrome. In some cases, Cerebellar Vemis remains partially developed, and the associated organ development of liver and kidney remain minimum. In such cases, the risk of the patient is less, and the patient might response to the therapy well and can cope up with a partially developed brain. This is also called the Mild Joubert Syndrome. However, absence of Cerebellar Vemis from brain or high association of other diseases may impact the infants in a drastic manner. This is normally referred as the Severe Joubert Syndrome, and the survival rate of the infants considerably reduce with that.
Life Expectancy of Joubert Syndrome
Life Expectancy of the infants depends upon the severity of the Joubert Syndrome. For Mild Joubert Syndrome, the children generally survive with supportive treatment and lives normal span of life. However, if the severity of the disease is very high than the survival rate decreases and the infant may die within a couple of years of birth due to multi organ failure or breathing problems. Normally, in severe cases the life expectancy for Joubert Syndrome is 2-3 years.
Pictures of Joubert Syndrome
Picture 1 – Joubert syndrome Face
Image 2- Joubert Syndrome CT scan photo (molar Teeth Sign)