Associated Health Issues
The prominent health issues that are associated with Joubert Syndrome are not often seen at birth. The issues associated with this disease are commonly seen as the child is developing. JS is involved with other related diseases “with phenotypes including cerebellar hypoplasia, retinal dystrophy and nephronophthisis (a cystic kidney disease)” (Investigating Embryonic Expression Patterns and Evolution, 2012).
Cerebellar hypoplasia is defined as a neurological condition in which the cerebellum is under developed. This condition is present at birth and can be seen and identified with an MRI. There is no standard treatment for this abnormality, the symptoms are treated and serves as more of a supportive approach (NINDS Cerebellar Hypoplasia, 2011). Cerebellar hypoplasia can be a progressive disease depending on the underlying disorder and often has a poor prognosis. Cerebellar hypoplasia that is not progressive due to the underlying disorder can be “the result of abnormal brain formation during fetal development, and might …show more content…
Retinal dysplasia is inherited autosomal recessively and can include non-progressive diseases or abnormal appearing retinal diseases (Retinal Diseases, 2010). Similar to JS, both parents must be carriers of the mutated genes. To diagnose this disease an electroretinogram can be used. The diagnosis process involves testing the retinas response and sensitivity to light. (Retinal Diseases, 2010). These tests are typically done under normal lighting and in a dark room. Children with this disorder must undergo frequent vision assessments to track any changes that may occur. Characteristics of this disease include non-progressive diseases with a retina that appears normal. Another characteristic is an abnormal appearing retina which can be a congenital condition, by traumatic retinal detachment or hemorrhage or by an infection. (Retinal Diseases,
The prominent health issues that are associated with Joubert Syndrome are not often seen at birth. The issues associated with this disease are commonly seen as the child is developing. JS is involved with other related diseases “with phenotypes including cerebellar hypoplasia, retinal dystrophy and nephronophthisis (a cystic kidney disease)” (Investigating Embryonic Expression Patterns and Evolution, 2012).
Cerebellar hypoplasia is defined as a neurological condition in which the cerebellum is under developed. This condition is present at birth and can be seen and identified with an MRI. There is no standard treatment for this abnormality, the symptoms are treated and serves as more of a supportive approach (NINDS Cerebellar Hypoplasia, 2011). Cerebellar hypoplasia can be a progressive disease depending on the underlying disorder and often has a poor prognosis. Cerebellar hypoplasia that is not progressive due to the underlying disorder can be “the result of abnormal brain formation during fetal development, and might …show more content…
Retinal dysplasia is inherited autosomal recessively and can include non-progressive diseases or abnormal appearing retinal diseases (Retinal Diseases, 2010). Similar to JS, both parents must be carriers of the mutated genes. To diagnose this disease an electroretinogram can be used. The diagnosis process involves testing the retinas response and sensitivity to light. (Retinal Diseases, 2010). These tests are typically done under normal lighting and in a dark room. Children with this disorder must undergo frequent vision assessments to track any changes that may occur. Characteristics of this disease include non-progressive diseases with a retina that appears normal. Another characteristic is an abnormal appearing retina which can be a congenital condition, by traumatic retinal detachment or hemorrhage or by an infection. (Retinal Diseases,