Cockayne syndrome is a genetically caused disorder that is comparatively rare. The disease is usually passed on to children in an autosomal recessive manner. The common abbreviation of Cockayne syndrome is CS. Typical symptoms of the disease include short stature, a reduction in intelligence, and early signs of aging.
What is Cockayne syndrome?
The name Cockayne syndrome is derived from the first person to describe the condition, Cockayne, a British physician. Some physicians also refer to the condition by the synonymous terms Neill-Dingwall syndrome or Weber-Cockayne syndrome. Basically, the disease appears only with an extremely low frequency in the average population. Yet the prevalence of the disease is estimated to be about 1 in 200,000. Cockayne syndrome is usually passed on genetically in an autosomal recessive manner. Basically, the disease is characterized by a defect in nucleotide excision repair. This is a special form of DNA repair. This is also related to transcription. The disease has some similarities with the so-called Hutchinson-Gilford syndrome. However, the latter disease is characterized by a much more severe course. In principle, Cockayne syndrome is divided into three types. The classification depends primarily on the course as well as the onset of symptoms.
- Type 1 represents the most common manifestation of Cockayne syndrome. The characteristic disease symptoms take their beginning already a few months after birth.
- Type 2 is characterized by particularly severe courses and difficulties. Sometimes these develop already in the congenital stage. Type 3 is a comparatively mild form of Cockayne syndrome. Here, the symptoms appear relatively late, moreover, the compared to type 1 and type 2 are weaker.
Causes
In principle, Cockayne syndrome represents a genetically caused hereditary disease. Thus, the cause of the disease is essentially specific genetic mutations. The development of the disease is closely related to the fact that the repair of DNA is disturbed. The responsible genes are mainly ERCC6 and ERCC8. The repair processes associated with transcription are disturbed. The so-called nucleotide excision repair is also impaired. This is the pathway by which damage to DNA by UV radiation is corrected.
Symptoms, complaints, and signs
Numerous symptoms are possible in association with Cockayne syndrome. Typically, affected individuals suffer from short stature with deviated proportions. Aging processes also occur much more rapidly than in healthy individuals. As a rule, affected individuals also exhibit so-called microcephaly. In addition, both the mental and the physical development of the affected persons is delayed. In many cases, the face shows anomalies and malformations. The ears often lie comparatively low and are characterized by an unusual size. The upper jaw is usually pushed forward, while the eyes lie in deep sockets. In addition, affected individuals often suffer from so-called cerebellar ataxia, epileptic seizures, and spasticity. Also, the affected individuals are usually very sensitive to UV light. The hearing ability decreases more and more in the course of time, and the patients are also affected by severe caries. Scaly patches and redness often develop on sun-exposed areas of the skin. However, the skin pigments are not affected. Tumors also do not usually form on the skin. The central nervous system is sometimes affected, and difficulties in walking often develop. In addition, contractures are possible when bending.
Diagnosis
The diagnosis of Cockayne syndrome is based largely on the presenting symptoms of the individual patient. Depending on the type of disorder, symptoms manifest either shortly after birth or comparatively late. A medical history is taken to determine the individual symptoms of the disease. A family history confirms the suspicion of Cockayne syndrome. The parents of the child patient with the disease play a central role.During visual examinations, the attending physician analyzes the anomalies in the area of the face and head. X-ray examinations provide important information on the presence of short stature. Differentially, the so-called Flynn-Aird syndrome must be excluded. In general, the prognosis of Cockayne syndrome tends to be poor. Affected patients live to an average age of only twelve years. Individuals often die as a result of calcified blood vessels. Glomerulosclerosis is also among the common causes of death.
Complications
Cockayne syndrome can cause a variety of malformations and complications. In most affected individuals, this is primarily manifested by severe short stature. Mental development and the development of intelligence are also severely hindered and restricted. As a rule, retardation of the affected person occurs. Concentration disorders and behavioral disturbances may also occur. The face shows various malformations. Patients usually feel uncomfortable and ashamed of their appearance, and teasing and bullying may occur, especially in children. Psychological complaints may also arise. It is not uncommon for sufferers to have poor hearing and suffer from epileptic seizures. The nervous system is also impaired, which can lead to movement restrictions that make the patient’s daily life considerably more difficult. Causal treatment of Cockayne syndrome is usually not possible. Therefore, treatment is primarily aimed at alleviating the symptoms, which is often achieved with the help of medication or various therapies. Due to the rapidly calcified blood vessels, patients with Cockayne syndrome experience a reduced life expectancy. Parents of affected individuals also often suffer from psychological distress and depression.
When should you see a doctor?
Early diagnosis of Cockayne syndrome and treatment of each symptom can greatly improve the child’s quality of life. A doctor should be seen immediately if the patient suffers from short stature. The aging process of the affected person is also much faster. Furthermore, a medical examination is also necessary if the patient suffers from increased retardation or if the physical development is slowed down. The symptoms do not all have to occur together and can vary considerably in their severity. However, spasticity or hearing difficulties may 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. In an emergency, an emergency physician should be called. Difficulty in the child’s walking may also indicate Cockayne syndrome and must be investigated. The diagnosis can be made by a general practitioner or by a pediatrician. However, treatment of the symptoms is only symptomatic with the use of various specialists.
Treatment and therapy
So far, there are no possibilities to treat the causes of Cockayne syndrome, as it is a genetically caused disease. The symptoms of affected patients are reduced only by symptomatic therapy. For this purpose, certain medications are used, for example. In addition, the patients usually receive special social and educational care in order to support them in the best possible way despite their reduced intelligence. An important therapeutic measure is also the prophylaxis of further complaints, for example with regard to caries. Adequate physiotherapy is also helpful as a rule.
Outlook and prognosis
In Cockayne syndrome, the prognosis depends on when the disease is detected and what damage has already occurred. If treated early, symptoms can be reduced, allowing affected individuals to lead normal lives, at least in the interim. If the disease is not adequately treated or if no treatment is possible, various malformations and complications may occur in the course of Cockayne syndrome. In general, the quality of life and well-being of those affected is reduced. Due to the mental developmental disorders, a normal life is usually not possible. The affected persons are dependent on help throughout their lives and usually also have a lower life expectancy. Psychological complaints worsen the general prognosis.Many affected individuals cannot be adequately treated because severe disorders and vascular damage have already occurred. The prognosis for Cockayne syndrome is therefore generally rather negative. Only in the case of a mildly pronounced disease can symptomatic treatment enable the affected person to lead a normal life. In almost all cases, the impaired physical and mental development, as well as the multiple accompanying symptoms, leave permanent damage, which in most cases leads to the death of the affected person.
Prevention
Proven measures for the prevention of Cockayne syndrome do not currently exist. However, intensive research is currently being conducted on ways to effectively prevent genetic diseases in the future.
Follow-up
Part of aftercare is special social and educational support. Affected people should go to a support group and talk to other affected people there. The physician in charge will also recommend special talk therapies as well as behavioral training, always depending on the type and severity of Cockayne syndrome. Since the condition progresses progressively, palliative medical measures must also be taken in the long term. These include a change in diet in addition to the administration of painkillers and sedatives. A healthy diet can alleviate the pain, but also other accompanying symptoms such as the epileptic seizures. If these measures do not show success, another doctor must be consulted. If the disease progresses positively, the patient must have a medical checkup first weekly and then monthly. Finally, a comprehensive screening must be performed every six months to ensure that no new symptoms occur. Since life expectancy is usually reduced, therapeutic counseling should also be provided. This enables the patient to learn how to cope better with the disease and also to improve his quality of life again in the long term. Follow-up care also includes the creation of a complaint diary, in which symptoms and complaints are noted in all details.
What you can do yourself
Cockayne syndrome always places a considerable burden on 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 initially turn to self-help groups or consider other therapeutic measures. Psychological support reduces the risk of psychological distress and depression. Accompanying arrangements must be made to ensure a normal daily life for the child with the disease. Depending on the severity of the Cockayne syndrome, this may include handicapped-accessible furnishings and the purchase of aids such as hearing aids and visual aids. The attending physician can best assess which measures make sense and will also support the parents with the organizational tasks. Relatives can find additional help in specialized clinics for hereditary diseases and genetic disorders. The affected persons 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. Through this and through medical measures, a normal life with Cockayne syndrome, according to the circumstances, is possible.