Joubert Syndrome is a rare congenital disorder in which the middle part of the cerebellum is not formed properly. This causes problems with muscle coordination and balance and motor development lags far behind. Most patients are moderately mentally disabled. Nowadays it is possible to diagnose this disease through prenatal diagnosis. What does this condition entail and what is a patient’s life like?
The emergence
The Joubert Syndrome is a hereditary condition and is therefore present from birth. There is an error in the hereditary material that causes the middle part of the cerebellum to not be formed properly. It is a rare condition that affects 1 in 100,000 children. It occurs in both boys and girls. It can only occur if both parents are carriers of the defective gene. It is an autosomal recessive inheritance. This means that both parents must have the defective gene in the same place on the chromosome in order to transmit it to the child. The parents themselves have no complaints. Two gene defects have been discovered that probably cause this disease. This is currently still being investigated.
Symptoms
A baby with this condition will be very floppy due to sagging muscles. The baby has difficulty holding its head up and often has difficulty drinking. In the first year, abnormal breathing and unusual eye movements are particularly noticeable. Problems arise with muscle coordination, balance and motor development lags far behind. There are also abnormalities of the retina, limbs and kidneys. In some children with Joubert Syndrome, the tongue has a different shape. Some children suffer from spastic muscles. Most patients will be (moderately) mentally handicapped and developmentally delayed. In general, a child with this disease will learn to walk. In some cases, normal intelligence also occurs.
Diagnosis
It usually takes some time before the diagnosis is made. Based on the parents’ story and the findings of the examination, the child neurologist will conduct further research to get a better picture. A technique will be chosen to image the brain. This can be done by means of an ultrasound, MRI scan or ophthalmologist. In some cases the child has epilepsy.
Prenatal diagnosis
If a child is born with Joubert Syndrome, there is a chance that if a brother or sister comes along, he or she will also have the disease. This chance is about 25 percent. Nowadays there are options to determine whether the unborn child has this disease through a prenatal diagnosis. This can be done using an amniocentesis, extensive ultrasound examination in the period between 16 and 18 weeks or an MRI scan around the 20th week of pregnancy.
Therapy
This hereditary condition cannot be cured. The treatment consists of controlling the symptoms as much as possible and learning to deal with the limitations. For example, if the child has epilepsy, he or she will receive medication against it. A physiotherapist, occupational therapist or rehabilitation doctor can be called in for weak muscles. A speech therapist can contribute to the development of language and communication. If the child cannot feed itself, tube feeding is used through the nose or otherwise directly through the stomach.
Life expectancy
Children with this condition continue to suffer from it throughout their lives. The severity of the limitations varies per child. Some people can later live independently quite well with some adjustments. There are also people with Joubert Syndrome who remain dependent on assistance their entire lives and cannot live independently. If there are no complications, people with this disease have a normal life expectancy. If there are serious symptoms such as difficult-to-treat epilepsy or recurring pneumonia, life expectancy can be shortened.