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Joubert Syndrome Joubert Syndrome Jodi McQueen Stephen F. Austin University 1 Joubert Syndrome Joubert Syndrome: Pathological condition. Characterized by central nervous system defects, retinal dystrophy, severe psychomotor retardation, and breathing problems. Ocular findings similar to Leber’s amaurosis(abnormal saccades and pursuit), but visually evoked responses are normal. Can be hereditary. What is Joubert Syndrome? Marie Joubert (whose name is given to the condition) gave a detailed description of the syndrome in 1969. She wrote about four siblings (three brothers, one sister) in one family with abnormal breathing, jerky eye movements , poor mental development, and ataxia(staggering gait and imbalance). X-ray examination showed that a particular section of the brain, called the cerebellar vermis, was absent or not fully formed. This specific brain defect was confirmed during an autopsy in one of these individuals. Her initial report also described a sporadic(non-inherited) patient with similar findings, in addition to polydactyly. Another name for Joubert syndrome is Joubert-Bolthauser syndrome. Joubert syndrome is a rare brain malformation showing the absence or underdevelopment of the cerebellar vermis - this is an area of the brain that controls balance and coordination, and a malformed brain stem. The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), decreased muscle tone (hypotonia), jerky eye movements (oculomotor apraxia), mental retardation, and the inability to coordinate voluntary muscle movements (ataxia). Physical deformities may be present, such as extra fingers and toes (polydactyly), cleft lip or palate, and tongue abnormalities. Kidney and liver abnormalities can develop, and seizures may also occur. Most cases of Joubert syndrome are sporadic (not inherited). Joubert syndrome is classified as an auto-somal recessive disorder. Autosomal means that both males and females can have the condition. Recessive means that both parents carry a single copy of the responsible gene. Autosomal recessive disorders occur when a person inherits a particular pair of genes that do not work properly. The ratio in which this would happen to children of carrier parents is 25% (one in four) for each pregnancy. What is the prognosis? The prognosis for infants with Joubert syndrome depends on whether or not the cerebellar vermis is partially developed or entirely absent. Some children have a mild form of the disorder, with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation. Is there any treatment? Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing patterns should be monitored. Screening for progressive eye, liver, and kidney complications associated with Joubert-related disorders should be performed on a regular basis. Functional problems Individuals with this condition will have abnormal development of the retina in the eye, or the iris (coloboma), which can interfere with visual acuity and processing (CVI) In Joubert Syndrome,the cerebellar vermis is either absent or incompletely formed. The brain stem is sometimes quite small. The absence or abnormal function of these brain tissues causes problems in breathing and vision, and severe delays in development. Muscle movement of the eye is also affected in Joubert syndrome. It is common for the eyes to have a quick, jerky motion of the pupil, known as nystagmus. The retina (this is the tissue in the back of the eye that receives and transmits visual signals to the brain) may be abnormal. Some individuals (most often in males) may have a split in the tissue in the iris of the eye. Each of these problems will affect their vision, and eye surgery might not be beneficial. Sources: 1. http://www.ninds.nih.gov/disorders/joubert/joubert.htm 2. Dictionary of Eye Terminology 5th Ed., Barbara Cassin and Melvin Rubin, MD, Editor, 2006, Gainsville, FL., pg. 148 3. http://www.jsfrcd.org/ 4. http://www.answers.com/topic/joubert-syndrome 5. http://www.novelguide.com/a/discover/gegd_0002_0001_0/gegd_0002_0001_0_00228.ht ml