Rubenstein-Taybi Syndrome Research Paper

Rubinstein- Taybi Syndrome: A Physical and Educational Perspective Rubinstein- Taybi Syndrome: A Physical and Educational Perspective When speaking of terms of diseases of a rare nature, Rubinstein-Taybi Syndrome is a definite mention. According to Joseph G. Morelli, MD, Rubinstein-Taybi Syndrome is characterized as, “a genetic disease that involves broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability” (2007). The condition itself is so rare that is occurs only about 1 in 125, 000 newborn babies (Rubinstein, 2012).
The cause of Rubinstein-Taybi Syndrome can be attributed to a defect in the CREBBP and EP300 genes. The CREBBP gene provides instructions for making a protein that helps control the activity of many other genes. This protein, called CREB, plays an important role in regulating cell growth and division and is essential for normal fetal development. If just one copy of the CREBBP gene is deleted or changed, cells make only half of the normal amount of CREB binding protein (Rubinstein, 2012). The EP300 gene, unlike the CREBBP gene, controls protein development before and after the birth.
In many of the cases of Rubenstein-Taybi Syndrome, no mutation is detected in either the CREBBP or the EP300 gene. In these cases, the case is unknown, but it is suspected that another unknown gene is responsible. Diagnosis of Rubinstein-Taybi Syndrome can create a serious disadvantage for a student in the classroom, for which a teacher must be willing to accommodate. Immediately after birth, the symptoms of Rubinstein-Taybi Syndrome can be present. Some of the more recognizable symptoms at birth include broadening of the thumbs and big toes.Although these are a few of the symptoms, the symptoms appear on a large spectrum, ranging from constipation to an absent kidney. Over 80% of children with Rubinstein-Taybi Syndrome have some type of eye abnormality including crossed eyes, cataracts, and tear duct obstruction. Glaucoma may be present at birth or in early life, which can result in blindness if left undetected (Rubinstein, 2012). Later throughout more developmental stages, parents may begin to notice short stature. Once the child begins schooling, the symptoms become slightly more obvious, demonstrating slow development of cognitive skills.
Once a child begins to perform tasks such as drawing, coloring, and using scissors, teachers and parents will begin to notice slow development of motor skills accompanied by low muscle tone (Morelli, 2012). These symptoms are also a bit more noticeable because due to RTS, the thumbs and toes on an affected child will broaden beyond normal size, complicating everyday tasks. This will severely limit to what extent a child suffering from RTS will be able to perform in the classroom. Rubenstein-Taybi Syndrome is not inherited by the parents or caused by anything the parents did or did not do while pregnant.
Most cases are caused by a single mutation in one gene. Rubenstein-Taybi Syndrome almost always occurs in cases where there is no family history of Rubenstein-Taybi Syndrome showing that family history and heredity is not a factor in contracting Rubenstein-Taybi syndrome. Most cases are sporadic and likely due to a new genetic defect that occurs while the baby grows in the womb, which was not passed on by either parent (Morelli, 2012). Consequently, parents with a child with a new mutation generally do not have an increased risk of having another child with the disorder.
However, the new genetic mutation will be hereditary and an adult with this mutation risks passing on the mutated gene to his/her children. However, it is unusual for people with the syndrome to become parents. There is no specific treatment for RTS that has been discovered as of yet. Because the disease is genetic, it is impossible for doctors to pinpoint just one area of the body to treat, especially because the disease comes with so many other symptoms. This however, does not mean that modern medical science cannot ease the way of life for a person with RTS.
Surgery to repair the bones in the thumbs or toes can sometimes improve grasp or relieve discomfort (Morelli, 2012). With all being said, it is incredible to imagine the difficulty that a student suffering with RTS may face in the classroom. A 1977 case study by Goots and Liemohn compared three children (aged seven to ten) with the syndrome to 15 counterparts with mixed mental retardation (Galera & Taupiac, 2009). In the study, it was found that children with RTS were friendly and more readily social. In addition, the students with RTS were more emotional and excitable.
Nightmares were seen more frequently, and the students were more likely to pout. Demonstrating lack of focus in the classroom, the students affected by RTS had short attention ps. Important in development at these ages, the students with RTS faced more difficulties in planning motor acts (Galera & Taupiac, 2009). Speech problems are present in a large percentage of students. Most individuals have speech delay, but others also have articulation problems. It is not unusual as well, to discover that some students with RTS use sign language as their primary form of communication.
Unfortunately for students with RTS, they often times confused with autistic students. References Galera, C. , & Taupiac,, E. (2009). Socio-Behavioral Characteristics of Children with Rubinstein-Taybi Syndrome [Abstract]. Journal of Autism & Developmental Disorders, 39(9), 1252-1260. doi: 10. 1007/s10803-009-0733-4 Morelli, J. G. (2007). Disorders of the Nails. In Nelson Textbook of Pediatrics (18th ed. , p. Chap 662). Phildelphia, PA: Saunders Elsevier. Rubinstein-Taybi Syndrome. (2012, February 27). Genetics Home Reference. Retrieved March 6, 2012, from http://ghr. nlm. nih. gov/condition/rubinstein-taybi-syndrome
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