What is Joubert Syndrome?

Joubert Syndrome (JS) is a rare genetic disorder affecting less than 350 people in the world.  The gene for this syndrome has not yet been located, but it is aggressively being researched now.  The key relationship between all JS patients is that the part of the brain called the cerebellar vermis is missing or is not formed properly.

The most typical features of Joubert Syndrome are:

• Absence or underdevelopment of part of the brain called the cerebellum vermis, which controls balance and coordination.
• A malformed brain stem, which may cause an abnormal breathing pattern called episodic hypernea, in which babies pant, and may be followed by apnea (cessation of breathing).
• Abnormal eye and tongue movements.
• Decreased muscle tone. It can be marked in the neonatal period and in infancy.
• Seizures (less typical).

Kidney and Liver Complications
People who have Joubert Syndrome have a chance of developing Kidney or Liver complications.  Some of these patients have had to have Kidney transplants during childhood years.  Because of this, we monitor Joey’s Kidney and Liver function every year by having an abdominal ultrasound.  We also have blood work done every six months.

Seizures
Joey does have seizures.  He is on an anticonvulsant called tegretol. We have his blood levels tested every six months to see if he is on the right dosage.  It is at this time we have other blood tests ran as well.  We have his liver and kidney function checked.

Therapies
Since he was 4 months old, Joey has received numerous types of therapy.  Physical Therapy, Occupational Therapy, and Speech Therapy.

Sensory Integration Dysfunction
Sensory Integration Dysfunction (SID) is one of the most troubling aspects to Joubert Syndrome.  Not all children with JS experience this, but many do.  It is considered to be an “autistic overlap” by the medical professionals.  Although it is not true autism, it is a characteristic of autism. 

SI is the brain’s inability to process information received through the senses.  The dysfunction happens in the central nervous system. At times, the brain cannot analyze, organize, and connect sensory messages.  The result is that the behavior of the child is affected, which influences the way they learn, move, relate to others, and feel about themselves.  

How does this effect Joey? 
There are many many types of SID.  One of many, which we believe Joey has, is a sensory overload and he goes into what we call “crying spells”.  These crying spells can last up to an hour.  He will cry uncontrollably.  There is nothing you can do to get his to stop. You just have to let the spell take its course and make sure that he is safe and will not hurt himself.  While in the “crying spell” he moves all around the room, sometimes scooting along on the carpet, which ends in a rug burn on his cheek.

There are some different types of therapies that help with SI.  These therapies help with the neurons (nerve cells), which release neurotransmitters. Neurotransmitters are the transmitters (natural chemicals in the brain i.e.: dopamine, serotonin to name a few) that fire the neighboring neuron to become positive (active) therefore, gives an electrical message to do a particular task (learn, move, remember, reason etc.). Our brain has millions of these neurons.  Since Joey has an under developed cerebellum, the next neighboring neuron is not right “next door” unlike us. So it takes longer for the firing to get to the next neuron.

Since it takes these neurotransmitters to fire the neurons, the transmitters must be kept in balance. If the neurotransmitters are not in balance, this throws off the firing of the neurons. If these neurotransmitters are not in balance, then that is when problems occur; behaviors, moods, unable to do gross motor skills, fine motor skills, etc.   

To help keep these balanced we do the following: We swing Joey; give deep massages, a specific brushing technique called The Wilbarger Protocol. With this type of brushing you use a surgical scrub brush on the skin followed by joint compressions.  We brush his hair, give big hugs, put him in different positions, whether it is in his stander, wheelchair or blue tumble forms chair, or just have him sit on the floor.  All of these are a type of stimulation that helps balance the neurotransmitters which also helps with the firing of the neurons. There are many many others.  

There are many types of stimulation to keep everything balanced that we do on a daily basis and do not realize that we are giving someone some “therapy”.  It can be as simple as placing your hand on someone’s back. Almost everything we do on a daily basis is some type of input for the firing of neurons.  Some of us just might need more help than others, like Joey.  How I explain it to some is, “The electrical wiring is not right, so we have to help with the currents”

Joey is an extremely social and outgoing child, who loves people, and loves his family.  We hope that some day he can walk and talk and somewhat take care of himself and contribute in some way to our society. But for now he is trapped inside, not able to express himself fully, not able to walk, run, dance, sing, or talk to us and tell us what he is thinking or tell us when he is not feeling well nor show us where it hurts. Joey does not eat orally. He eats through a gastrostomey tube (g-tube: a tube that is surgically placed in the stomach for feeding).  He also cannot tell us when he is hungry, so we have to space feedings out throughout the day. 

Physical Development
At the age of 5 months he rolled over for the first time. He did it a few more times and then he never rolled over again. He started rolling again between the ages 3 ½ - 4 years old.  He currently rolls all over the place and gets up on his knees and shows signs that he really wants to crawl.  His upper body has hypotonia (low muscle tone), therefore cannot support his upper body weight on his arms.  We work on that in therapy.

Speech
Although he seems to understand what is said to him, Joey’s neurological impairments prevent him from being able to use words to communicate. Because so little is known about Joubert Syndrome, we really have no idea when or if he will be able to speak efficiently. In July 2000, Joey started making the “mmmmmm” sounds. Which turned into “ma-ma”.  That was a very nice and wonderful to hear. We have been told that since he said “ma-ma” that he has about 10 other words inside waiting to come out. We hope that does happen for Joey.

Visual Impairments  
Joey’s vision is pretty good. We know he can tell the difference between what he wants to watch and what he does not. He has “nystagmus” (shaky eyes), which makes his view of the world less defined. He also has a cataract in his right eye due to scratching his cornea a few times and also hitting his eye.

Cognitive Delays  
Cognitive abilities in JS range from moderately retarded to learning disabled. Joey shows signs that he wants to learn but has problems processing the information.

The Joubert Syndrome Foundation & Related Cerebellar Disorders
The Joubert Syndrome Foundation is an international network of families who have children with JS. They share knowledge, experience and emotional support. There are even adults affected with JS that are also members. Because of this network, genetic testing and research regarding the symptoms and complications of this syndrome are being pursued.

The foundation offers a quarterly newsletter, a biennial conference, family networking and support.

We have been to 3 other conferences for the Joubert Syndrome Foundation.  This summer will be our 4^th conference. This year’s conference will be in New Orleans, LA June 26 – 29, 2002. At these conferences we meet other families that have someone who is affected with Joubert Syndrome. It is a great opportunity to see these families over the years and to learn that we have the same thoughts and fears about our children. We also always get to meet new families as well. During the conference we get to hear and talk to the Doctors that are involved with the research and also get a chance to meet with them individually. They will update us with what has been going on with research too. This year our team of doctors received a grant from the National Institute of Health (NIH) and will have a medical symposium about Joubert Syndrome at our conference. Doctors from all over the world will attend. Therapists will give clinics geared specifically towards our children’s unique needs. There will be vendors present to give presentations on communication devices. There will be sibling(s) workshop this year among other activities

THANK YOU FOR YOUR SUPPORT!

For more information about The Joubert Syndrome Foundation & Related Cerebellar Disorders please visit www.jsfrcd.org

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