Rubinstein-Taybi syndrome is the name given to a genetic disorder. It results in various mental and physical impairments.
What is Rubinstein-Taybi syndrome?
Rubinstein-Taybi syndrome (RTS) is one of the genetic disorders. Affected individuals suffer from physical deformities as well as moderate intellectual disabilities. RTS is caused by abnormalities of chromosomes 16 and 22. The syndrome was first described in 1957 as part of a study. The name Rubinstein-Taybi syndrome is due to physicians Jack Herbert Rubinstein and Hooshang Taybi. The two physicians published a detailed study of the disease in 1963. The incidence of Rubinstein-Taybi syndrome is 1:120,000, but data on the condition in the literature varies widely because, until the 1980s, studies were conducted only on children living in residential institutions. Furthermore, by no means all cases of Rubinstein-Taybi syndrome are diagnosed. It is not uncommon for the diagnosis to take place only in adolescents. In addition, the symptoms of the syndrome include several variants. Furthermore, in some children there are only mildly pronounced mental disabilities and no typical facial features are present.
Causes
Rubinstein-Taybi syndrome presents sporadically. In people with intellectual disabilities, the incidence is 1:500. In rare cases, it occurs familially, that is, in siblings, twins, or mother and child, suggesting 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. An important aspect of the defect is a synthesis disorder of the so-called CREB binding protein. This acts as a transcription factor or coactivator in phosphorylated form on cAMP-regulated gene expression. However, precise facts about the pathogenesis are not yet available.
Symptoms, complaints, and signs
The typical manifestations of Rubinstein-Taybi syndrome include intellectual disabilities that vary in severity among individuals. Affected individuals usually have an intelligence quotient below a value of 50. The IQ range can extend from 17 to 90. Further characteristics of the genetic disease are physical features that become apparent after birth despite normal pregnancy. For example, the head of most affected individuals 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. It is usually necessary to wear glasses for correction. Another physical abnormality is elongation of the nasal bridge in the lower direction. Some children also have a reddish mark on their forehead since birth. It is not uncommon for the ears to have an abnormal shape and to be low. Likewise, the teeth of the patients may be affected. For example, many of them have premolarization of incisors and canines, which manifests itself in the form of claw humps. It is also not uncommon for the palate to be too high and too narrow. Individuals affected by Rubinstein-Taybi syndrome have a short stature. In addition, the spine is bent, there are anomalies of the vertebrae as well as a tilted position of the hips. Some of the joints have increased extensibility and the gait suffers from unsteadiness. Other particular abnormalities include bending of the thumb and big toes of the foot and increased hairiness of the body. Fine motor functions are less intensely affected. But wider thumbs make differentiated holding of objects more difficult. Malformations of the internal organs are also possible. These include renal agenesis (inhibitory malformation), water sac kidneys or a heart defect such as a ductus arteriosus persistens, pulmonary stenosis and a ventricular septal defect. In addition, the behavior of affected children is also striking due to Rubinstein-Taybi syndrome. They are difficult to feed even in infancy, are restless and often suffer from flu-like infections. Furthermore, there are disturbances in the development of speech, which is significantly slower. Older children are often conspicuous for their anxiety.
Diagnosis and course of the disease
The diagnosis of Rubinstein-Taybi syndrome is considered straightforward, based on the typical symptoms. With the aid of imaging techniques, structural abnormalities of the brain can be detected. Further functional disorders can be diagnosed by neurophysiological procedures such as electroencephalography. In some cases, molecular genetic testing can also detect a deletion on chromosome 16. Differential diagnoses with Mowat-Wilson syndrome and floating harbor syndrome are also important. In most cases, Rubinstein-Taybi syndrome does not take an unfavorable course. However, patients’ life expectancy may be reduced due to chronic kidney disease or heart defects. In some cases, complications are also within the realm of possibility.
Complications
Due to Rubinstein-Taybi syndrome, patients suffer from various physical and mental disabilities that have a very negative impact on the affected person’s daily life and quality of life. In most cases, relatives and parents are also affected by the symptoms and suffer from psychological upsets. The patients themselves are usually retarded and therefore need extensive support in their lives. The head of those affected is very small and various malformations occur in the face. This can lead to bullying or teasing, especially in children or adolescents. In most cases, those affected are small in stature and suffer from an unsteady gait. Motor skills are also significantly affected. Rubinstein-Taybi syndrome can also lead to malformations of the internal organs, so that patients may have a shorter life expectancy and are dependent on regular check-ups throughout their lives. Treatment is only possible symptomatically, although this does not lead to any particular complications. As a rule, many symptoms can be limited. However, the patient is always dependent on the help of other people in his or her life.
When should one go to the doctor?
Rubinstein-Taybi syndrome must always be treated by a doctor. It is a genetic disease, and therefore can only be treated symptomatically and not causally. A complete cure is therefore not possible. In case of a desire to have children, the affected person should have genetic counseling to avoid inheriting the syndrome. As a rule, a doctor should be consulted for Rubinstein-Taybi syndrome if the affected person suffers from reduced intelligence. In this case, the head of the affected person also appears small in relation to the entire body. Small stature may also indicate Rubinstein-Taybi syndrome and should be examined by a physician. There is unsteadiness in gait. 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 initial diagnosis of the syndrome may be made by a general practitioner or a pediatrician. Further treatment is then provided by a specialist.
Treatment and 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 child’s development as early as possible. Important guiding pillars of therapy include early intervention, occupational therapy, physiotherapeutic exercises, and speech therapy programs. Other important factors include not flooding the children with stimuli, showing them trust and providing social support. In addition, patients should have structured daily routines and their motor skills should be encouraged. Another important aspect is meeting the emotional needs of the sick children. If Rubinstein-Taybi syndrome manifests itself multiple times within the family, genetic counseling must take place.
Prevention
Rubinstein-Taybi syndrome is one of the congenital genetic diseases. Therefore, it is not possible to prevent it.
Follow-up
Rubinstein-Taybi syndrome (RTS) is caused by a genetic change, so it is one of the congenital disabilities. Usually diagnosed in early childhood, the syndrome accompanies the affected person throughout his or her life. The life expectancy is not at all or only slightly below average.If severe heart defects are present, on the other hand, it is lower than in other patients. Follow-up care makes sense in order to be able to support the affected person accordingly. The goal is to develop the respective abilities as well as an appropriate, everyday way of dealing with the disease. For adult patients, work in conventional companies is not possible due to the reduced IQ, but they can be employed in appropriate facilities. Such measures are part of aftercare. Individual abilities must be considered in both adults and children with RTS. Congenital heart disease usually requires surgical treatment. In this case, aftercare also includes care in the clinic, and subsequent follow-up appointments with a specialist provide information about the success. Orthopedic abnormalities cannot be treated surgically, but are treated with regular exercises.
What you can do yourself
The genetic disease poses a challenge in coping with everyday life for the affected person, but also for the relatives. As physical as well as mental impairments occur, the entire daily routine often has to be adjusted according to the patient’s possibilities and needs. To avoid excessive demands, parents should consider seeking psychotherapeutic help themselves. The organization of leisure activities and the fulfillment of daily tasks is very much oriented to the patient’s treatment plan. In order to improve the quality of life, in addition to a healthy and balanced diet, an optimal organization of leisure time is particularly important. This should promote the zest for life of all involved. Time out for the parents is just as important as spending time together. Learning processes should be geared to the patient’s mental capabilities. Excessive demands or the exertion of pressure should be avoided. As early as possible, the child should be informed about his or her disease, its further course, and the challenges it faces. Early intervention is particularly important to improve the child’s mobility capabilities. Training sessions carried out there can subsequently be continued at home. A stable social environment and well-structured daily routines are particularly important for patients. Hectic, stress and conflicts should be refrained from.
