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Diseases

Genetic and Rare Diseases Information Center (GARD)

Joubert syndrome


Other Names for this Disease
  • Cerebelloparenchymal disorder 4
  • Cerebellar vermis agenesis
  • Joubert-Boltshauser syndrome
  • JBTS1
  • CPD4
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My grandson has Joubert syndrome, autism, and ADHD.  Is autism related to Joubert syndrome?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Joubert syndrome?

Joubert syndrome is disorder of abnormal brain development that may affect many parts of the body. It is characterized by the absence or underdevelopment of the cerebellar vermis (a part of the brain that controls balance and coordination) and a malformed brain stem (connection between the brain and spinal cord). This gives a characteristic appearance of a molar tooth sign on MRI. Signs and symptoms can vary but commonly include weak muscle tone (hypotonia); abnormal breathing patterns; abnormal eye movements; ataxia; distinctive facial features; and intellectual disability.[1][2][3] Various other abnormalities may also be present. Joubert syndrome may be caused by mutations in any of many genes and is predominantly inherited in an autosomal recessive manner.[1][4] Rarely it may be inherited in an X-linked recessive manner.[5] Treatment is supportive and depends on the symptoms in each person.[1]
Last updated: 2/15/2016

What are signs and symptoms of Joubert syndrome?

Most infants with Joubert syndrome have weak muscle tone (hypotonia) in infancy, which evolves into difficulty coordinating movements (ataxia) in early childhood. [3]

Other characteristic features include episodes of unusually fast or slow breathing (hyperpnea), which tends to occur shortly after birth, intensify with emotional stress and progressively improve with age, usually disappearing around the sixth month of life. [3][6]

Abnormal eye movements are also common.  Oculomotor apraxia is one of the most frequent abnormalities which causes people to have trouble moving their eyes to look side-to-side.  People with oculomotor apraxia have to turn their head to see things in their side (peripheral) vision. [6]

Developmental abilities, in particular language and motor skills, are delayed with variable degrees of severity.  Mild to severe intellectual disability is common, however some individuals may have normal intellectual abilities. [6]

Distinctive facial features are also characteristic; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes, low-set ears, and a triangle-shaped mouth.[3]

Joubert syndrome can include a broad range of additional signs and symptoms.  The condition is sometimes associated with other eye abnormalities (such as retinal dystrophy, which can cause vision loss), kidney disease, liver disease, skeletal abnormalities (such as the presence of extra fingers and toes), and hormone (endocrine) problems. When the characteristic features of Joubert syndrome occur in conbination with one or more of these additional signs, researchers refer to the conidition as "Joubert syndrome and related disorders (JSRD)" [3] or one of a subtype of Joubert syndrome.[6]
Last updated: 2/10/2011

Is there a connection between Joubert syndrome and autism?

There is a connection, but it remains somewhat unclear. Autism is a relatively common condition, occurring in 1 in 500 children, and is more likely in boys with a 4:1 male:female ratio. There are likely many different causes for this increasingly common diagnosis. Features of classical autism include poor eye contact and limited communication skills as well as repetitive or self-stimulatory behaviors. Autism has been reported in a number of children with Joubert syndrome in several publications. However, more recent surveys suggest that these behavioral disturbances do not represent classic autism, but are more likely to be related to the underlying cerebellar disorder, eye movement problems, and associated developmental disabilities. [7][8] You can read more about the question of whether there is a connection between Joubert syndrome and autism on the University of Washington School of Medicine's Joubert Research Program's Web site.  Click on the link to view their frequently asked questions.
Last updated: 2/10/2011

References
Other Names for this Disease
  • Cerebelloparenchymal disorder 4
  • Cerebellar vermis agenesis
  • Joubert-Boltshauser syndrome
  • JBTS1
  • CPD4
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.