Rubinstein-Taybi Syndrome: Causes, Symptoms And Treatment
During fetal development, our genes act to order the growth and formation of the different structures and systems that will shape a new being.
In most cases, this development occurs in a normalized manner through genetic information from the parents, but sometimes mutations occur in the genes that cause alterations in development. This gives rise to different syndromes, such as Rubinstein-Taybi syndrome of which we will see its details below.
Rubinstein-Taybi syndrome is a disease considered rare of genetic origin which occurs approximately one in every hundred thousand births. It is characterized by the presence of intellectual disability, thickening of the thumbs and feet, slowed development, short stature, microcephaly and various facial and anatomical alterations, characteristics that are explored below.
Thus, this disease presents both anatomical (malformations) and mental symptoms. Let’s see what they consist of and what their severity is.
Symptoms linked to anatomical alterations
At the level of facial morphology it is not unusual to find wide-set eyes or hypertelorism, elongated eyelids, high-arched palate, hypoplastic jaw (lack of development of the bones of the upper jaw) and other anomalies. In terms of size, as we have said before, it is very common for them to be mostly short, as well as a certain level of microcephaly and delayed bone maturation. Another easily visible and representative aspect of this syndrome is seen in the hands and feet, with thumbs that are wider than usual and short phalanges.
About a quarter of people with this syndrome tend to suffer from congenital heart defects, which must be monitored with special caution as they can lead to the death of the minor. About half of those affected have kidney problems, and it is also common for them to have other problems in the genitourinary system (such as a bifid uterus in girls or the failure of one or both testicles to descend in boys).
They have also been found dangerous abnormalities in the respiratory tract, in the gastrointestinal system and in organs linked to nutrition that lead to feeding and breathing problems. It is common for them to present infections. Visual problems such as strabismus or even glaucoma are common, as is otitis. They usually do not have appetite during the first years and the use of tubes may be required, but as they grow older they tend to suffer from childhood obesity. On a neurological level, seizures can sometimes be observed, and they have a higher risk of suffering from different cancers.
Intellectual disability and problems during development
The alterations produced by Rubinstein-Taybi syndrome They also affect the nervous system and the development process Slowed growth and microcephaly facilitate this.
People with this syndrome They usually have moderate intellectual disability with an IQ of between 30 and 70. This degree of disability can allow them to acquire the ability to speak and read, but generally they cannot follow ordinary education and require special education.
The different development milestones also present a significant delay, starting to walk late and manifesting particularities even in the crawling stage. As for speech, some of them do not develop this ability (in which case they must be taught sign language). In those that do, the vocabulary is usually limited, but can be stimulated and improved through education.
Sudden mood changes and behavioral disorders may occur, especially in adults.
A disease of genetic origin
The causes of this syndrome are of genetic origin. Specifically, the cases detected have been mostly linked to the presence of deletions or loss of a fragment of the CREBBP gene on chromosome 16 In other cases, mutations of the EP300 gene have been detected on chromosome 22.
In most cases the disease appears sporadically, that is, despite being of genetic origin, it is not, as a general rule, an inherited disease but rather the genetic mutation arises during embryonic development. However hereditary cases have also been detected in an autosomal dominant manner.
Applied treatments
Rubinstein-Taybi syndrome is a genetic disease that has no curative treatment. Treatment focuses on alleviating symptoms correct anatomical anomalies through surgery and enhance their capabilities from a multidisciplinary perspective.
At the surgical level it is possible to correct deformities heart, eyes and hands and feet. Rehabilitation and physiotherapy, as well as speech therapy and different therapies and methodology that can support the acquisition and optimization of motor and language skills.
Finally, psychological support and the acquisition of basic skills for daily living is essential in many cases. It is also necessary to work with families to provide them with support and guidance.
The life expectancy of those affected by this syndrome can be normal as long as the complications derived from their anatomical alterations, especially cardiac ones, are kept under control.
