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
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
References: Galéra, 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