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Joubert Syndrome Essay

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Joubert Syndrome: genetic factors and associated cognitive, motor and organ disabilities. Joubert Syndrome (JS) is a rare genetic disorder which involves mutations in both the mother’s and father’s genes. Both parents must be carriers of this gene in order to pass it on to their children and there is a twenty five percent chance that their child will be born with Joubert Syndrome (Welcome | Joubert Syndrome & Related Disorders Foundation, 2015). Characteristics of this very rare syndrome include decreased muscle tone. Children with this disorder often have difficulty learning how to walk and some are required to use walkers or wheelchairs. The use of a walker or wheelchair may only be temporary depending on the severity of the disorder. Having…show more content…
This paper will discuss the genetic factors that have an impact on this disorder as well as the cognitive, motor and organ dysfunctions that can be associated with this disorder. Kidney and liver disorders or diseases can be seen in patients with this syndrome and it requires annual screening and blood work to be done. This is done to monitor any potential changes that have occurred. The range of severity is very broad and many cases can be seen on either side of the spectrum, severe to mild. There are different characteristics of Joubert Syndrome that can be seen depending on the severity of the disorder. Children can have trouble learning how to walk or talk and may have coordination issues. There are different therapeutic strategies available to help with these characteristics (Gagliardi, C, 2015). Physical therapy and occupational therapy are available to help increase muscle tone and improve the likelihood of not requiring a wheelchair or walker for the majority of their lives. Speech therapy is also available because difficulty forming words can be seen as a characteristic of this disorder (Gagliardi, C,…show more content…
If a family has had a child previously born with Joubert Syndrome there are tests that can be done during their next pregnancy to determine if their next child has the disorder. Different ways to diagnose JS during pregnancy include preforming an MRI and an ultrasound (İskender, C., Tarım, E., & Alkan, Ö. (2012). These are the two most helpful and accurate ways of determining if the fetus has JS. Genetic testing in recommended if a family has a child with JS. This can be beneficial to current studies because new gene mutations are commonly being found. A study was done on 12 different fetuses and correctly identified and diagnosed JS in 3 of the fetuses. The other 9 were found to be normal and showed no signs of JS. An MRI was done and the results revealed “narrow pontomesencephalic junction (isthmus) with deepening of the interpeduncular fossa and thick horizontally placed superior cerebellar peduncles (MTS), deformed anteriorly convex floor of the fourth ventricle, and midline cerebellar cleft in place of the hypoplastic vermis” (Fetal Magnetic Resonance Imaging, 2013). Another characteristic found on these MRI’s were that the anteroposterior and transverse diameter of the fourth ventricle in the fetuses with JS were higher than the diameters found in the fetuses without JS (Fetal Magnetic Resonance Imaging,
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