By: Kara Tanigawa
[email protected]
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| Babies Beware: Joubert Syndrome on the loose By: Kara Tanigawa [email protected] |
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| The Joubert Syndrom Foundation & Related Cerebral Disorders | ||||||||||||||||||||||||||||
| The Cleveland Clinic | ||||||||||||||||||||||||||||
| Computerized tomography of brain from normal subject and a subject with Joubert syndrome with a mutation in the newly identified gene. | ||||||||||||||||||||||||||||
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| What is it? | ||||||||||||||||||||||||||||
| National Institute of Neurological Disorders, "NINDS Joubert Syndrome Information Page" | ||||||||||||||||||||||||||||
| Joubert Syndrome is a rare, genetic disorder that occurs in infants which casuses brain malformation. This disorder causes an underdevelopment or absence of the part of the brain that controls balance and coordination (cerebellar vermis) and a malformed brain stem that controls basic functions. Common features, both mental and physical, that develop in infants are: abnormally rapid breathing, jerky eye movement, mental retardation, the inability to coordinate voluntary muscle movements, extra fingers and toes, cleft lip or palate,and tongue abnormalities. Sometimes this syndrome can cause one to have seizures. | ||||||||||||||||||||||||||||
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| Inheritance | ||||||||||||||||||||||||||||
| Dr. Rob Hicks, "Joubert Syndrome" | ||||||||||||||||||||||||||||
| Joubert Syndrome is a genetic abnormality that is inherited in an autosomal recessive fashion. This type of inheritance means that both of the parents carry this abnormal gene, but they are not effected by it because they each also have a normal copy of the gene. (Many times, people are unaware that they have this abnormal gene.) However, when the parents both pass on the gene to their child, the Joubert Syndrome develops. This syndrome is more likely to occur in families where the parents are related. | ||||||||||||||||||||||||||||
| Treatment | ||||||||||||||||||||||||||||
| Wrong Diagnosis, "Treatments for Joubert Syndrome" | ||||||||||||||||||||||||||||
| There is no cure for the Joubert Syndrome. However, there are many treatements that are important to help with the symptoms of Joubert Syndrome. Although the treatments do not cure the infant, they support the child in his or her development. The treatment for the disorder is symptomatic and supportive. Infant stimulation, physical therapy, occupational therapy, and speech therapy often benefits in the child's development. The other treatment is respiratory monitorning which should be used for infants who have abnormal breathing patterns. | ||||||||||||||||||||||||||||