Rubinstein Taybi syndrome is a condition that develops due to some genetic disorders. It is characterized by deformity in features such as very wide thumbs and toes, stunted height, intellectual impairment and abnormal facial structure. The condition begins to make its presence felt at early childhood.
Rubinstein Taybi syndrome does not necessarily have to run in the family. It can also affect the infant if the sperm cell or the egg cell is defective.
The treatment uses an individualistic approach and it caters to the personal needs of the patient. Generally treatment includes speech therapy where the child is motivated to develop his/her speech, feeding therapy where the child learns to have food on his/her own, physical therapy where the child develops motor skills, and special education. Some surgical intervention can be implemented to improve the functioning of the hands and feet, for example, to support better movement and grasping.
Treatment also entails combating other associated disorders such as feeding problems, constipation, lacrimal duct stenosis, congenital heart defects and glaucoma. The diagnosis includes genetic examination to confirm genetic disorder. Defects in the CREBBP gene and EP300 gene leads to the development of this disorder.
Rubinstein Taybi Sundrome is accompanied by several deformities. For instance, the child suffers from poor mental development owing to which he/she faces difficulties in speaking, carrying out normal motor activities and tending to the self. Therefore the treatment procedure involves a consolidated approach from specialists belonging to various fields like pediatric, cardiology, orthopedics, audiology, and nephrology. The active involvement of special education trainers is also required. A patient with Rubinstein syndrome can also develop vision and dental problems. Therefore, the active participation of ophthalmologists as well as dentists is also required.
Special education includes physical therapy where the child learns to carry out bodily movements like sitting, running and walking accurately. The child also learns to grasp a pencil, hold and use objects to accomplish daily tasks. Speech therapy aims at improving the child’s verbal communication and consumption of food. The child suffering from Rubinstein syndrome also needs behavioral therapy so that he/she can learn to adapt to the immediate environment.
A child suffering from this condition can develop problems in the kidneys as well as the respiratory tract. So he/she should be under constant medical observation. The treatments only prolong the life of the child and help him/her deal with the condition but there is no ultimate cure. In order to prevent Rubinstein syndrome it is an imperative on the part of the parents to undergo genetic counseling before the child is conceived.
Rubinstein Syndrome is a condition which is characterized by stunted growth, intellectual impairment, and peculiar features, like, the child has a beaked nose and has wide fingers. If upon genetic diagnosis it is found that the child has this condition, treatment for Rubinstein Syndrome must begin.
Saethre-Chotzen syndrome, Greig cephalopolysyndactyly syndrome are two conditions that are characterized by the similar symptoms that are observed in a child with Rubinstein syndrome. The intervention approach differs owing to the fact that the conditions are different. Therefore, genetic counseling can only determine which treatment will be eligible for which patient.
There are no known side effects of this treatment.
A child suffering from Rubinstein syndrome needs to undergo treatment throughout his/her life. Hence, there is no post-treatment aftercare per se. However, parents should be aware of the special education skills that are being taught to the child so that they can help the child implement those skills within the home environment. Also, the parents should ensure that the child remain under constant medical supervision.
There is no ultimate treatment of Rubinstein Taybi Syndrome and a child needs to undergo treatment till the end of his/her life.
No, Rubinstein Syndrome needs life-long treatment. So the results are not permanent.
A patient suffering from Rubinstein Taybi syndrome often suffers from constipation. Therefore, natural laxatives can be recommended to the patient by the concerned doctor. Some of the natural laxatives include aloe, phosphates, flaxseed, psyllium, barley and rhubarb. Tissue manipulating massage could also be recommended to children suffering from this condition. However, the parents must adapt these interventional methods on the advice of the doctor.