A genetic disease is known as Rubinstein-Taybi syndrome. This leads to various mental and physical impairments.
What is Rubinstein-Taybi Syndrome?
Rubinstein-Taybi syndrome (RTS) is one of the genetic diseases. Those affected suffer from physical deformities and moderate intellectual disabilities. RTS is caused by abnormalities in chromosomes 16 and 22. For arteriovenous malformation definition, please visit electronicsmatter.com.
The syndrome was first described in a 1957 study. The name Rubinstein-Taybi syndrome is due to doctors Jack Herbert Rubinstein and Hooshang Taybi. The two physicians published a detailed study of the disease in 1963. The frequency of Rubinstein-Taybi syndrome is 1:120,000.
However, the information about the disease in the literature is quite different, because until the 1980s studies were only carried out on children who lived in dormitories. In addition, by no means all cases of Rubinstein-Taybi syndrome are detected. It is not uncommon for the diagnosis to be made in young people. In addition, the symptoms of the syndrome include several variants. In addition, some children have only mild intellectual disabilities and do not have typical facial features.
Rubinstein-Taybi syndrome is sporadic. In people with intellectual disabilities, the incidence is 1:500. In rare cases, it occurs in families, i.e. in siblings, twins or mother and child, which indicates autosomal dominant inheritance. A microdeletion on the short arm of chromosome 16 and a gene mutation on the long arm of chromosome 22 are responsible for the development of Rubinstein-Taybi syndrome.
A significant aspect of the defect is a disruption in the synthesis of the so-called CREB binding protein. This acts as a transcription factor or coactivator in a phosphorylated form on cAMP-regulated gene expression. However, precise facts on the pathogenesis are not yet available.
Symptoms, Ailments & Signs
The typical manifestations of Rubinstein-Taybi syndrome include mental disabilities, which vary in severity from person to person. Those affected usually have an intelligence quotient below 50. The IQ range can be from 17 to 90.
Other characteristics of the genetic disease are physical features that appear after birth despite a normal pregnancy. The head of most patients is relatively small. The distance between the eyes is wide and the eyebrows are high and heavy. In addition, patients suffer from refractive errors and strabismus. Correction usually requires the wearing of glasses.
Another physical feature is the lengthening of the bridge of the nose in the lower direction. Some children also have a reddish mark on their forehead since birth. The ears often have an abnormal shape and lie low. The patient’s teeth can also be affected.
For example, many of them have premolarization of the incisors and canines, which is noticeable in the form of claw humps. It is not uncommon for the palate to be too high and too narrow. People affected by Rubinstein-Taybi syndrome have a short stature. In addition, the spine is bent, there are anomalies in the vertebrae and a misaligned hip.
The joints sometimes have increased elasticity and the gait suffers from insecurity. Other special abnormalities are the buckling of the thumb and big toes as well as increased hair on the body. Fine motor functions are less affected.
However, wider thumbs make differentiated holding of objects more difficult. Malformations are also possible in the internal organs. These include renal agenesis (inhibition malformation), water sac kidneys or a heart defect such as a persistent ductus arteriosus, pulmonary stenosis and a ventricular septal defect.
In addition, the behavior of the children affected by the Rubinstein-Taybi syndrome is also conspicuous. They are already difficult to feed when they are babies, are restless and often suffer from the flu. There are also disturbances in language development, which is significantly slower. Older children are often anxious.
Diagnosis & course of disease
The diagnosis of Rubinstein-Taybi syndrome is considered uncomplicated, which is due to the typical symptoms. Structural abnormalities in the brain can be detected using imaging techniques. Other functional disorders can be diagnosed by neurophysiological methods such as electroencephalography.
In some cases, a molecular genetic test can also be used to detect a deletion on chromosome 16. Differential diagnoses of Mowat-Wilson syndrome and Floating Harbor syndrome are also important. In most cases, Rubinstein-Taybi syndrome does not take an unfavorable course.
However, the life expectancy of patients can be reduced due to chronic kidney disease or heart defects. In some cases, complications are also possible.
Due to Rubinstein-Taybi syndrome, patients suffer from various physical and mental disabilities that have a very negative impact on the patient’s everyday life and quality of life. In most cases, the relatives and parents are also affected by the symptoms and suffer from mental disorders. The patients themselves are usually retarded and therefore need comprehensive support in their lives.
The head of those affected is very small and there are various malformations in the face. This can lead to bullying or teasing, especially in children or young people. In most cases, those affected are of short stature and suffer from an unsteady gait. Motor skills are also clearly affected.
Rubinstein-Taybi Syndrome can also cause internal organ deformities, so patients may have a shorter life expectancy and need regular check-ups throughout their lives. Treatment is only symptomatic and does not lead to any particular complications. As a rule, many complaints can be restricted. However, the patient is always dependent on the help of other people in his life.
When should you go to the doctor?
Rubinstein-Taybi syndrome must always be treated by a doctor. It is a genetic disease, which can therefore only be treated symptomatically and not causally. A complete cure is therefore not possible. In the case of a desire to have children, the person concerned should have genetic counseling carried out in order to avoid inheriting the syndrome. As a rule, a doctor should be consulted for Rubinstein-Taybi syndrome if the person concerned suffers from reduced intelligence. The head of the affected person also appears small in relation to the entire body.
Short stature can also indicate Rubinstein-Taybi syndrome and should be examined by a doctor. Uncertainty arises when walking. Since Rubinstein-Taybi syndrome can also lead to heart defects, the affected person should undergo regular examinations of the internal organs to avoid complications. The first diagnosis of the syndrome can be made by a general practitioner or a pediatrician. Further treatment is then carried out by a specialist.
Treatment & Therapy
Treating the causes of Rubinstein-Taybi syndrome is not possible. Instead, the attempt is made to positively influence the symptoms and to support the development of the child as early as possible. Important pillars of therapy are early support, ergotherapy, physiotherapeutic exercises and speech therapy programs.
Other important factors include not flooding the children with stimuli, trusting them and providing social support. In addition, the patients should have structured daily routines and their motor skills should be encouraged.
Another important aspect is the satisfaction of the emotional needs of the sick children. If the Rubinstein-Taybi syndrome shows up several times within the family, genetic counseling must take place.
Rubinstein-Taybi syndrome is one of the congenital genetic diseases. It is therefore not possible to prevent it.
Rubinstein-Taybi Syndrome (RTS) is caused by a genetic mutation, making it a congenital disability. The diagnosis is usually made in early childhood, and the syndrome accompanies those affected throughout their lives. Life expectancy is not at all or only slightly below average. If severe heart defects are present, however, it is lower than in other patients.
Aftercare is useful in order to be able to support the affected person accordingly. The aim is to develop the respective skills and to deal with the disease appropriately on a day-to-day basis. Due to the reduced IQ, adult patients cannot work in conventional companies, but they can be employed in appropriate institutions. Such measures are part of aftercare.
Individual abilities need to be considered in both adults and children with RTS. Congenital heart diseases usually require surgical treatment. In this case, the aftercare also includes care in the clinic, subsequent check-up appointments with the specialist provide information about the success. Orthopedic abnormalities cannot be treated surgically, but are treated with regular exercises.
You can do that yourself
The genetic disease poses a challenge for those affected, but also for their relatives in coping with everyday life. Since physical and mental impairments occur, the entire daily routine often has to be tailored to the patient’s possibilities and needs.
To avoid being overwhelmed, parents should consider seeking psychotherapeutic help themselves. The design of leisure activities and the fulfillment of daily tasks is very much based on the patient’s treatment plan. To improve the quality of life, in addition to a healthy and balanced diet, optimal leisure activities are particularly important. This should promote the joie de vivre of everyone involved. Time out for the parents is just as important as spending time together on activities. The learning processes are to be geared to the intellectual potential of the patient. Excessive demands or the exertion of pressure should be avoided.
The child should be informed as early as possible about his illness, the further course and the challenges. Early support is particularly important in order to improve mobility options. Training units carried out there can also be continued at home afterwards. A stable social environment and well-structured daily routines are particularly important for patients. Hectic, stress and conflicts should be avoided.