When Cockayne syndrome is a genetically caused disease that occurs relatively rarely. The disease is usually passed on to children through an autosomal recessive route. The common abbreviation for Cockayne Syndrome is CS. Symptoms such as short stature, reduced intelligence and early signs of old age are typical of the disease.
What is Cockayne Syndrome?
The name of Cockayne syndrome is derived from the first person to describe the disease, the British doctor Cockayne. Some doctors also use the synonymous terms Neill-Dingwall syndrome or Weber-Cockayne syndrome to refer to the disease. Basically, the disease occurs only with an extremely low frequency in the average population. The prevalence of the disease is estimated at around 1: 200,000.
Cockayne syndrome is usually passed down genetically through an autosomal recessive route. Basically, the disease is characterized by an error in the repair of the nucleotide excision. This is a special form of DNA repair. This is also related to the transcription. The disease has some similarities with what is known as Hutchinson-Gilford syndrome.
The latter disease, however, is characterized by a significantly more severe course. In principle, the Cockayne syndrome is divided into three types. The classification depends primarily on the course and the beginning of the complaints.
- Type 1 is the most common form of Cockayne syndrome. The characteristic symptoms of the disease start just a few months after birth.
- Type 2 is characterized by particularly difficult courses and difficulties. Sometimes these develop in the congenital stage. Type 3 is a comparatively mild form of Cockayne syndrome. Here the symptoms show up relatively late, and in comparison to type 1 and type 2, they are less pronounced.
causes
In principle, the Cockayne syndrome is a genetically caused hereditary disease. The cause of the disease is essentially due to special genetic mutations. The development of the disease is closely related to the fact that the repair of the DNA is disturbed.
The responsible genes are mainly ERCC6 and ERCC8. The repair processes in connection with the transcription are disrupted. The so-called nucleotide excision repair is also impaired. In this way, damage to the DNA caused by UV radiation is corrected.
Symptoms, ailments & signs
There are numerous possible symptoms associated with Cockayne syndrome. Typically, the sick people suffer from short stature with deviating proportions. The aging processes are also much faster than in healthy people. As a rule, the people affected also have what is known as microcephaly.
In addition, both the mental and physical development of the sick person is delayed. In numerous cases, the face shows anomalies and deformities. The ears are often relatively deep and are characterized by an unusual size. The upper jaw is usually pushed forward while the eyes are deeply sockets.
In addition, in many cases the affected people suffer from so-called cerebellar ataxia, epileptic seizures and spasticity. The sick people are usually very sensitive to UV light. The hearing ability declines over time, and the patients are also affected by severe tooth decay.
Scaly patches and reddening often develop on sun-exposed areas of the skin. However, the skin pigments are not impaired. Tumors on the skin usually do not form either. The central nervous system can cause various complaints, which often lead to difficulties in walking. In addition, contractures are possible when bending.
Diagnosis
The diagnosis of Cockayne syndrome is essentially based on the symptoms of the individual patient. Depending on the type of disease, the symptoms appear either shortly after birth or relatively late. In the case of a medical history, the individual symptoms of the illness are explored.
A family history supports the suspicion of Cockayne syndrome. The parents of the sick child play a central role in this. As part of visual examinations, the attending physician analyzes the anomalies in the face and head. X-ray examinations provide important information about the presence of short stature.
The so-called Flynn-Aird syndrome can be excluded from the differential diagnosis. In general, the prognosis for Cockayne syndrome tends to be poor. The affected patients only live to be an average of twelve years old. Often people die as a result of calcified blood vessels. Glomerulosclerosis is also a common cause of death.
Complications
Cockayne syndrome can lead to various malformations and complications. For most of those affected, this is primarily evident from their short stature. Mental development and the development of intelligence are also severely prevented and restricted. As a rule, the affected person is delayed.
Concentration disorders and behavior disorders can also occur. The face shows various malformations. Most of the time, patients feel uncomfortable and ashamed of their appearance, which can lead to teasing and bullying, especially among children. This can also lead to psychological complaints. It is not uncommon for those affected to hear poorly and suffer from epileptic seizures.
The nervous system is also restricted and can lead to movement restrictions that make the patient’s everyday life much more difficult. A causal treatment of Cockayne syndrome is usually not possible. Treatment is therefore primarily aimed at relieving symptoms, which is often achieved with the help of medication or various therapies.
Due to the rapidly calcified blood vessels, patients with Cockayne syndrome have a reduced life expectancy. The parents of those affected also often suffer from psychological complaints and depression.
When should you go to the doctor?
Diagnosing Cockayne syndrome early and treating its symptoms can significantly improve the child’s quality of life. A doctor should be consulted immediately if the patient suffers from short stature. The aging process of those affected is also much faster.
A medical examination is also necessary if the patient suffers from increased retardation or if physical development is only progressing at a slower pace. The symptoms do not have to occur all together and can vary significantly in their severity.
However, spasticity or hearing problems can also indicate Cockayne syndrome and should be examined at an early stage. If the affected person also suffers from epileptic seizures, these must be treated in any case. An emergency doctor should be called in an emergency. Difficulty walking the child can also indicate Cockayne syndrome and should be investigated.
The diagnosis can be made by a general practitioner or by a pediatrician. The symptoms are only treated symptomatically through the use of various specialists.
Treatment & Therapy
So far there are no ways to treat the causes of Cockayne syndrome as it is a genetically caused disease. The symptoms of the affected patients are only reduced by symptomatic therapy. For example, certain drugs are used for this purpose.
In addition, the patients usually receive special social and educational support in order to support them in the best possible way despite their intellectual disabilities. Another important therapeutic measure is the prophylaxis of other complaints, for example with regard to tooth decay. Adequate physiotherapy is also usually helpful.
Outlook & forecast
With Cockayne syndrome, the prognosis depends on when the disease is recognized and what damage has already occurred. With early treatment, the symptoms can be reduced, which means that those affected are able to lead a normal life, at least in the meantime.
If the disease is not adequately treated or if treatment is not possible, various malformations and complications can arise in the course of Cockayne syndrome. In general, the quality of life and the wellbeing of those affected are reduced. Due to the mental development disorders, a normal life is usually not possible.
Those affected depend on help for a lifetime and usually also have a lower life expectancy. Psychological complaints worsen the general prognosis. Many of those affected cannot be adequately treated because severe disorders and vascular damage have already occurred. The prognosis for Cockayne syndrome is generally rather negative.
Symptomatic treatment can only enable those affected to lead a normal life if the disease is mild. In almost all cases, the limited physical and mental development, as well as the various accompanying symptoms, leave permanent damage, which in most cases leads to the death of those affected.
Prevention
Tried and tested measures to prevent Cockayne syndrome currently do not exist. However, there is currently intensive research into ways of effectively preventing genetic diseases in the future.
Aftercare
Part of the aftercare is special social and educational support. Those affected should go to a self-help group and talk to other affected people there. The doctor responsible will also recommend special conversation therapies and behavior training, always depending on the type and severity of Cockayne’s syndrome.
As the disease progresses, palliative medical measures must also be taken in the long term. In addition to the administration of painkillers and sedatives, this also includes a change in diet. A healthy diet can relieve pain, but also other accompanying symptoms such as epileptic seizures.
If these measures are unsuccessful, another doctor must be called in. If the disease progresses positively, the patient must first have a weekly and then monthly medical examination. After all, a comprehensive screening must be carried out every six months to ensure that no new complaints arise.
As life expectancy is usually reduced, therapeutic advice should also be given. In this way, the patient can learn to deal better with the disease and, in the long term, improve his quality of life again. Follow-up care also includes creating a complaint diary in which symptoms and complaints are noted down in detail.
You can do that yourself
The Cockayne syndrome is always a considerable burden for those affected and their relatives. Some measures make it easier to deal with the disease and its serious consequences on a day-to-day basis.
Parents whose child has been diagnosed with Cockayne syndrome can first turn to support groups or consider other therapeutic measures. A psychological support reduces the risk of mental disorders and depression. Accompanying this, precautions must be taken to guarantee the sick child a normal everyday life.
Depending on how severe the Cockayne syndrome is, this includes, for example, a handicapped-accessible facility and the purchase of aids such as hearing aids and visual aids. The attending physician can best assess which measures are sensible and will also support the parents with the organizational tasks.
Relatives can find additional help in specialist clinics for hereditary and genetic diseases. Those affected themselves sometimes also need therapeutic support in order to accept “being different” and the exclusion that is often associated with it. Parents should initiate these measures at an early stage and also deal openly with the disease themselves. As a result, and through medical measures, a normal life with Cockayne syndrome is possible according to the circumstances.
