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Joubert Syndrome: Rare Genetic Neurological Disorder

  • Synopsis: Published: 2015-04-07 - Information regarding Joubert syndrome, a rare form of genetic disorder that affects less than 350 people in the entire world. For further information pertaining to this article contact: Disabled World at Disabled World.

Joubert Syndrome

Synonyms: Joubert-Boltshauser syndrome, cerebelloparenchymal disorder IV, familial cerebellar vermis agenesis, cerebello-oculo-renal syndrome. Joubert syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. The disorder is characterized by absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign).

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"People with Joubert syndrome may receive a number of forms of therapy. The therapies can include occupational, physical, and speech therapy."

The gene for Joubert Syndrome has not yet been located, although it aggressively being researched. The key relationship between all people with Joubert syndrome is that the part of the brain called the, 'cerebellar vermis,' is either not formed properly, or is missing entirely. The most common features of Joubert syndrome include:

  • Seizures
  • Unusual tongue and eye movements
  • Decreased muscle tone which may be marked in the neonatal period and in infancy
  • Underdevelopment or absence of the part of the brain called the cerebellum vermis which controls balance and coordination
  • A malformed brain stem which might cause an unusual breathing pattern called, 'episodic hypernea,' in which babies pant and may be followed by apnea

Therapies: People with Joubert syndrome may receive a number of forms of therapy. The therapies can include occupational, physical, and speech therapy.

Seizures: Some people with Joubert syndrome also experience seizure activity and take anticonvulsant medication. When this is the instance, blood tests are performed on a regular basis to ensure their blood levels of the medication they take is at therapeutic levels.

Liver and Kidney Complications: People with Joubert syndrome have a chance of developing liver or kidney complications. Some of those with Joubert syndrome have kidney transplants during childhood. Due to this, their liver and kidney function is monitored through an abdominal ultrasound. Blood tests are also performed every six months.

Joubert Syndrome and Sensory Integration Dysfunction

Sensory Integration Dysfunction (SID) is one of the more troubling aspects of Joubert syndrome. Not every child with this syndrome experiences SID, although a number do. It is considered to an an, 'autistic overlap,' by health care providers. While it is not true autism, it is a characteristic of autism.

Sensory integration is the brain's inability to process information received through the person's senses. The dysfunction occurs in the central nervous system. Sometimes, the person's brain is unable to organize, analyze and correct sensory messages. The result is that the child's behavior is affected, something that influences the way people move, learn, feel about themselves and relate to others.

The Effects on Some Children with Joubert Syndrome

There are a number of forms of SID. One of many is a sensory overload that may cause a child to have crying spells. The crying spells may last for a period of an hour, during which the child will cry uncontrollably. There is nothing a parent can do to end the crying in some children. The spell will take its course; make sure your child is safe and will not harm themselves.

Some different forms of therapies exist that help with SID. The therapies help with the nerve cells that release neurotransmitters, which are transmitters of natural chemicals to the brain such as serotonin or dopamine. The chemicals fire the neighboring neuron to become positive or active, providing an electrical message to perform a particular task such as moving, learning, or reasoning among others. A person's brain has millions of such neurons. Children with Joubert syndrome have an underdeveloped cerebellum and therefore the next neighboring neuron is not right next to the others as it is in many people. What this means is it takes longer for the neuron-firing to get next to other neurons.

Due to the fact that it takes neurotransmitters to fire neurons, the transmitters have to be kept in balance. If the neurotransmitters are not in balance it throws off the firing of the neurons. If the neurotransmitters are not in balance, issues with moods, behaviors, fine and gross motor skills and more may happen.

Parents may help to keep these balanced by giving their child massages, swinging them, or a brushing technique called The Wilbarger Protocol. With the brushing technique you use a surgical scrub brush on the child's skin followed by joint compressions. Parents can brush their child's hair, place them in different positions, give their child hugs - whether it is in the child's stander, wheelchair or elsewhere, or simply have their child sit on the floor. All of these are forms of stimulation that help to balance neurotransmitters, which also helps with the firing of neurons.

There are several forms of stimulation to keep everything balanced that people do on a regular basis while remaining unaware that we are giving someone some therapy. It may be as simple as placing your hand on another person's back. Nearly everything we do on a regular basis is some form of input for the firing of neurons. Some people may just need more assistance than others.

Parents of children with Joubert syndrome love their children. Children with this syndrome love their parents and others back. Some parents of children with Joubert syndrome are unable to walk and talk. Parents may find themselves hoping their child will have the abilities to:

  • Run
  • Sing
  • Walk
  • Dance
  • Express themselves fully

Or tell their parents they are not feeling well and show their parents where it hurts. A child with Joubert syndrome may eat through a gastronomy tube or, 'G-tube.' What this means is some parents may have to feed their child with this syndrome at spaced feedings throughout the day.

Cognitive Delays: Cognitive abilities in Jourbert syndrome range from moderate intellectual disability to learning disabled. Some children with the syndrome may experience issues with processing information.

Physical Development: Some children with Joubert syndrome might roll; for example, at a few months of age - but not roll again until they reach a few years of age. The child might experience hypotonia or low muscle tone and find themselves unable to support their own body weight.

Visual Impairments: Some children with Joubert syndrome have fairly good vision. Parents can tell the difference between what the child desires to watch and what they do not. The child may have, 'nystagmus,' or, 'shaky eyes, which make their view of the world around them less-defined. They may also experience a cataract in their eye due to scratching of their cornea or hitting their eye.

Speech: While children with Joubert may appear to understand what is said to them, neurological impairments might prevent them from being able to use words in order to communicate. The fact that little is known about the syndrome means people really have no idea if or when a child with Joubert's will be able to speak efficiently. They may begin with sounding out words before they actually speak words.

Learn More About Joubert Syndrome

Cleveland Clinic, Joubert Syndrome
my.clevelandclinic.org/health/diseases_conditions/hic_Joubert_Syndrome

Center for Jewish Genetics, Joubert Syndrome
https://www.jewishgenetics.org/joubert-syndrome

Joubert Syndrome & Related Disorders Foundation
www.jsrdf.org/

Statistics: Joubert Syndrome

  • The incidence of Joubert's syndrome has been estimated to range between 1 in 80,000 and 1 in 100,000 live births, although this may be an underestimate.
  • Recurrence risk is 25% in most families, although X-linked inheritance should also be considered.


Related Information:

  1. Gene That Causes Intellectual Disability Discovered - Center for Addiction and Mental Health (CAMH) - (2011-05-13)
    https://www.disabled-world.com/disability/types/cognitive/joubert-syndrome.php
  2. Genetic Test for Cause of Intellectual Disability - Center for Addiction and Mental Health - (2010-02-27)
    https://www.disabled-world.com/disability/types/cognitive/genetic-test-disabilities.php

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