Joubert Syndrome Symptoms and Treatment

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Joubert syndrome is a genetic birth defect in which the area of the brain that controls balance and coordination is underdeveloped. It occurs in both males and females, in about one in 100,000 births.

The syndrome, first identified in 1969 by pediatric neurologist Marie Joubert, can occur in a child with no family history of the disorder or it may be inherited.

Children with Joubert syndrome typically have delays in gross motor milestones. Some children with Joubert also have intellectual disabilities or mental retardation. Vision, kidney, and liver problems are also common in the condition, but not all patients are affected.

Father holds his sleeping baby.
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Symptoms

The symptoms of Joubert syndrome are related to the underdevelopment of an area of the brain that controls balance and muscle coordination. The symptoms, which may range from mild to severe depending on how much the brain is underdeveloped, may include:

  • Periods of abnormally rapid breathing (episodic hyperpnea), which may seem like panting
  • jerky eye movements (nystagmus)
  • characteristic facial features such as drooping eyelids (ptosis), open mouth with protruding tongue, low-set ears
  • delay in achieving milestones
  • difficulty coordinating voluntary muscle movements (ataxia)

Other birth defects such as extra fingers and toes (polydactyly), heart defects, or cleft lip or palate may be present. Seizures may also occur.

Causes

Joubert syndrome is an autosomal recessive genetic disorder in which two parts of the brain—the cerebellar vermis and the brainstem—do not develop completely during pregnancy. The cerebellar vermis is responsible for the control of muscles, posture, and head and eye movements. The brainstem controls functions such as heartbeat, breathing, and temperature control.

While the disorder is due to genes, scientists have yet to identify all of the genes involved in Joubert syndrome. Up to 90 percent of cases can be linked to one of at least 10 different genes involved in the syndrome.

There are several subtypes of the syndrome, based on the genes involved and symptoms present, and some ethnicities have greater incidences of the syndrome than others. For example, Joubert Syndrome 2 (JBTS2) is more common among Ashkenazi Jews, with an estimated 1 in 34,000 children affected.

Diagnosis

The most pronounced symptom in a newborn infant with Joubert syndrome is periods of abnormally rapid breathing, which may be followed by stopping breathing (apnea) for up to a minute. Although these symptoms may occur in other disorders, there are no lung problems in Joubert syndrome, which helps identify it as the cause of the abnormal breathing.

A magnetic resonance imaging (MRI) scan can look for the brain abnormalities that are present in Joubert syndrome and confirm the diagnosis.

During pregnancy, brain abnormalities may be detected on ultrasound after 18 weeks. For people with a known family history of Joubert, prenatal testing may be available to test for specific gene variants.

Treatment

There is no cure for Joubert syndrome, so treatment focuses on the symptoms. Infants with abnormal breathing may have a breathing (apnea) monitor for use at home, especially at night.

Physical, occupational, and speech therapy may be helpful for some individuals. Individuals with heart defects, cleft lip or palate, or seizures may require more medical care.

Prognosis

The prognosis for Joubert syndrome varies by individuals and depends largely on whether the cerebellar vermis is partially developed or absent entirely. Some patients may have a shortened lifespan due to complications of the disease, including kidney or liver abnormalities.

Some children with Joubert syndrome have a mild form of the disorder and are minimally affected by motor disability and have good mental development, while others may have a severe motor disability, moderate impaired mental development, and multi-organ impairments.

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