Joubert Syndrome: A Rare Genetic Neurological Disorder

Introduction

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 the absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign).

The U.S. Social Security Administration (SSA) has included Joubert Syndrome as a Compassionate Allowance to expedite a disability claim.

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The gene for Joubert Syndrome has not yet been located, although it is 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 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 several 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. In this instance, blood tests are performed regularly to ensure the blood levels of the medication they take are therapeutic.

Liver and Kidney Complications:

People with Joubert syndrome can develop 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.

• 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.

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 be an 'autistic overlap' by healthcare 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 cannot 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.

Effects on Some Children with Joubert Syndrome

There are several 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 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; ensure 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 transmit 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; 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.

Because it takes neurotransmitters to fire neurons, the transmitters must be balanced. If the neurotransmitters are not in balance, it throws off the firing of the neurons. If the neurotransmitters are not balanced, issues with moods, behaviors, and fine and gross motor skills 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 in the child's stander, wheelchair, or elsewhere or have their child sit on the floor. All these are forms of stimulation that help balance neurotransmitters, which also help with the firing of neurons.

There are several forms of stimulation to keep everything balanced that people do regularly 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 regularly is some form of input for firing neurons. Some people may 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 ability to:

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

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

Cognitive Delays:

Cognitive abilities in Joubert 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. The child might experience hypotonia or low muscle tone and find themselves unable to support their body weight.

Visual Impairments:

Some children with Joubert syndrome have fairly good vision. Parents can distinguish between what their 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 to communicate. The fact that little is known about the syndrome means people 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 speak words.

Author Credentials:
Thomas C. Weiss is a researcher and editor for Disabled World. Thomas attended college and university courses earning a Masters, Bachelors and two Associate degrees, as well as pursing Disability Studies. As a Nursing Assistant Thomas has assisted people from a variety of racial, religious, gender, class, and age groups by providing care for people with all forms of disabilities from Multiple Sclerosis to Parkinson's; para and quadriplegia to Spina Bifida. Explore Thomas' complete biography for comprehensive insights into his background, expertise, and accomplishments.