Overview: Joubert syndrome is an uncommon condition that affects newborns and kids with developing brains. The cerebellar vermis, a region of the brain that regulates balance and coordination, is either missing or undeveloped. Additionally, there are abnormalities in the brain stem, which links the brain and spinal cord.
The body can be affected in a wide variety of ways by Joubert syndrome. Multiple health issues, developmental delays, and intellectual disabilities are possible outcomes.
Joubert Syndrome
The cerebellar vermis and brain stem are particularly affected by the uncommon genetic condition known as Joubert syndrome when it comes to brain development. Either absent or undeveloped is the cerebellar vermis, a region of the brain that regulates balance and coordination. The brain stem, which links the brain and spinal cord, also exhibits abnormalities. Depending on whatever body system is impacted, the condition may go by a number of names. The most typical newborn red flags include: abnormal motions of the eyes, such as difficulties moving them. delayed verbal and intellectual development and rapid respiration. Ataxia is the inability to exert voluntary muscular control over actions including walking, speaking, and grabbing. muscle tremor (hypotonia). Joubert syndrome patients may also have physical defects like cleft lip and palate. distinct facial characteristics (broad forehead, drooping eyelids, wide-set eyes, drooping ears, triangular mouth). additional fingers or toes (congenital hand difference). tongue condition The Joubert syndrome is more likely to affect organ systems that depend on cilia, particularly the retina of the eye. liver and kidney.
What is Joubert’s disease
The conditions Joubert syndrome and Joubert disease are interchangeable terms.
A uncommon condition called Joubert’s disease is characterised by intellectual incapacity, issues with mobility and balance, and both. Although the precise aetiology of the disorder is unknown, it is believed to be connected to issues with the cerebellum, a region of the brain crucial for movement and coordination. Because symptoms might differ from person to person, Joubert’s illness can be challenging to diagnose. The illness cannot be cured, however therapy can lessen symptoms and enhance quality of life.
How Common Is This Cerebellar Disease?
The Joubert syndrome is uncommon. Only around one in 100,000 or more infants are thought to be affected. There have only been a few hundred cases documented in the medical literature.
Joubert Syndrome Type B
The Joubert syndrome problem Type B can be identified by additional indications and symptoms such liver, kidney, and retinal damage.
Joubert Syndrome 2
Additional signs of the Joubert syndrome, classified as type 2 (JS2), include intellectual impairment, developmental delay, and retinal degeneration. Wide-ranging symptoms may be experienced by people with JS2, who get supportive and symptomatic therapy. The genetic alterations that cause JS2 have been linked to a number of genes, including AHI1 and NPHP1.
Joubert Syndrome 3
There are other subtypes of Joubert syndrome, such as Joubert syndrome 3, which is brought on by NPHP1 gene mutations. Even among those who have the same subtype of Joubert syndrome, the severity and symptoms might differ greatly.
Are Some People More At Risk For Joubert Syndrome?
People who have a relative with Joubert syndrome are more likely to pass it on to their offspring because the condition runs in families.
Some ethnic groups, including Ashkenazi Jews, French Canadians, and Hutterites, have a higher prevalence of the illness.
Symptoms and Causes
What Causes Joubert Syndrome?
35 or more genes have mutations that lead to Joubert syndrome. It may be acquired through genetics or might happen by accident (with no known family link).
The genetic mutations lead to improper cilia formation. Cells’ cilia function as little antennae that allow for intercellular communication. They aid in the growth and operation of organs. The “ciliopathies” are a category of illnesses that includes Joubert syndrome.
Researchers are currently working to determine how the aberrant cilia in Joubert syndrome contribute to the specific developmental issues.
What Are The Symptoms Of Joubert Syndrome?
Joubert syndrome symptoms can fluctuate greatly from person to person, however they may include aberrant eye movements, delayed language and intellectual development, ataxia, hypotonia, and physical anomalies such cleft palate and lip, as well as congenital hand differences.
Even among members of the same family, the symptoms of Joubert syndrome might differ significantly. They can range from a few minor side effects to serious issues with several different body systems.
The disorder may go by several names depending on which bodily systems are implicated.
Disorders Associated With The Joubert Syndrome.
The most typical newborn warning signals are:
- Abnormal eye motions, such as difficulty swivelling the eyes.
- Quick breathing
- Delayed linguistic and intellectual growth.
- Ataxia, the inability to regulate voluntary muscular movements like walking, speaking and grabbing up objects.
- Muscular weakness (hypotonia).
Joubert syndrome sufferers might additionally have physical abnormalities, such as:
- Cleft palate and lip.
- Distinct facial characteristics (broad forehead, droopy eyelids, eyes spaced wider, ears set lower, mouth shaped like a triangle).
- Additional toes or fingers (congenital hand differences).
- A tongue disorder.
Organ systems reliant on cilia are susceptible to Joubert syndrome, including:
- the retinas of the eyes in particular.
- Kidney.
- Liver.
Diagnosis and Tests
How Is Joubert Syndrome Diagnosed?
To diagnosis Joubert syndrome, medical professionals take the child’s symptoms and MRI into account.
The “molar tooth sign” can be seen on MRI scans of the brain in people with Joubert syndrome. The portion of the brain stem that didn’t develop properly often resembles a molar tooth.
A kid is identified as having Joubert syndrome if they:
- Intellectual impairments or developmental delays
- Infantile hypotonia that turns into childhood ataxia.
- MRI evidence of a molar tooth.
Management and Treatment
Joubert Syndrome Prognosis
The intensity of the symptoms and the particular organs affected by Joubert syndrome might have an impact on the prognosis. While some people may only have minor symptoms, others could experience severe intellectual impairment and developmental delay.
Is There A Cure For Joubert Syndrome?
The Joubert condition has no known treatment. However, your medical professionals could suggest some therapies to lessen your symptoms and enhance your quality of life.
What Treatments Will My Child With Joubert Syndrome Need?
Each person has a distinct course of treatment based on how Joubert syndrome affects them.
Delays in development may be treated by:
- Toddler stimulation
- Occupational medicine.
- Physical treatment
- Speech treatment.
Depending on how your kid is affected by Joubert syndrome, you could require routine consultations with medical professionals like:
- Nephrologists, specialists in kidney diseases.
- specialists in the brain, neurologists.
- Eye doctors known as ophthalmologists.
When they:
- Observe the impact of the disturbance on those systems.
- Check to see if the consequences are growing worse over time for that system.
- Whenever possible, suggest therapies.
You can also speak with genetic counsellors or geneticists. They can validate the particular gene mutations that cause Joubert syndrome. They can also assist families in determining who else needs to have the mutations examined.
Prevention
Can I Prevent Joubert Syndrome?
It is impossible to avoid Joubert syndrome. However, geneticists and genetic counsellors can assist in identifying potential risk members in your family. People can use the knowledge to determine, for instance, whether to have children.
Outlook / Prognosis
What Is The Outlook For People With Joubert Syndrome?
Whether the cerebellar vermis is fully grown or lacking, the prognosis for infants and kids with Joubert syndrome varies. It also depends on how and in what ways other bodily systems are impacted.
Some kids are only mildly affected, with hardly perceptible symptoms and nearly typical growth. Others struggle greatly with organ involvement, severe function impairment, and developmental issues.
In children, Joubert syndrome can be deadly. In this unusual disorder, life expectancy is currently being researched.
Living With
What Should I Ask My Healthcare Provider About Joubert Syndrome?
Families are impacted by the Joubert syndrome in many ways. Think about inquiring of your medical professionals:
- What kinds of impairments might we anticipate?
- How long will our child live?
- Which experts do we need to consult?
- How frequently ought should we see them?
- Should relatives run DNA tests on each other?
How Can My Family Learn To Cope With Joubert Syndrome?
You can attempt these things to aid you and your family in coping with Joubert syndrome:
- Counseling.
- Participating in groups that assist patients and research.
- Support networks.
A Note From Author
A very uncommon genetic condition called Joubert syndrome alters how the brain develops. The kidney, liver, and eyes may also be impacted. Each person is affected by the condition differently. Discuss with your healthcare practitioner the treatment your kid will require and whether other members of the family should undergo testing.
Conclusion
Ataxia, hypotonia, delayed language and intellectual development, aberrant eye movements, and other symptoms are all characteristics of the uncommon hereditary condition known as Joubert syndrome, which disrupts brain development. Joubert syndrome does not presently have a known cause or treatment, however therapies including speech, occupational, and physical therapy can assist manage symptoms and enhance quality of life.
Last Word Of The Author
To comprehend the particular subtype and its prognosis, it is crucial to speak with a genetic counsellor or geneticist. For people with Joubert syndrome, regular follow-up visits with a multidisciplinary team of specialists are crucial for managing symptoms and enhancing quality of life.
References
- Joubert Syndrome & Related Disorders Foundation. What Is Joubert Syndrome? (https://jsrdf.org/what-is-js/) Accessed 2/10/2021.
- Genetic and Rare Diseases Information Center. Joubert Syndrome. (https://rarediseases.info.nih.gov/diseases/6802/joubert-syndrome) Accessed 2/10/2021.
- National Institute of Neurological Disorders and Stroke. Joubert Syndrome Information Page. (https://www.ninds.nih.gov/Disorders/All-Disorders/Joubert-Syndrome-Information-Page) Accessed 2/10/2021.
- National Organization for Rare Disorders. Joubert Syndrome. (https://rarediseases.org/rare-diseases/joubert-syndrome/) Accessed 2/10/2021.
- U.S. National Library of Medicine. Joubert Syndrome. (https://medlineplus.gov/genetics/condition/joubert-syndrome/) Accessed 2/10/2021.
- MedlinePlus. Joubert Syndrome. (https://medlineplus.gov/genetics/condition/joubert-syndrome/#frequency) Accessed 2/10/2021.
- National Organization of Rare Disorders. Joubert Syndrome. (https://rarediseases.org/rare-diseases/joubert-syndrome/) Accessed 2/10/2021.
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