Cockayne Syndrome: Treatment, Cost and Side Effects

Cockayne syndrome is a rare congenital disorder that is charcterised by a small head (microcephaly), growth retardation (failure to thrive), photosensitivity (sensitivity to light) and severe neurological defect that leads to short stature, vision loss, hearing loss and premature aging (progeria). Based on these symptoms and severity of the condition, Cockayne Syndrome is divided into three subtypes, Type I, Type II and Type III.

Cockayne Syndrome is an autosomal recessive disorder which means it is inherited from the parents who are carriers of the disease. Human traits or features are determined by two genes, one received from the mother and one from the father. Recessive disorder occurs when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease from the parents, the person will be a carrier of the disease but will not show any symptoms.

The gene responsible for this mutations is either ERCC6 or ERCC8. The function of these genes is to provide instructions to repair damage DNA. A DNA is damaged by a number of things like ultraviolet rays of the sun and toxic chemicals, radiation and unstable molecules called free radicals. These damaged DNA are repaired by cells in our body. But with CS the DNA remains damaged and errors build up which results in cell malfunctions. This malfunctioning produces the symptoms of CS.

Cockayne Syndrome Type I which is the “classic form” is characterized by small head size (microphelay), short stature, decreased weight, sensitivity to light, hearing loss, vision loss and other developmental delays. CS Type II which is a severe form of the syndrome is characterized by severe growth failure and neurological development along with congenital cataracts and joint contractures. It is referred to as cerebro-oculo-facial-skeletal (COFS). Symptoms of this condition can be seen from birth and the baby does not live past seven years of age. CS Type III is a much milder form of Type I and only appears at a later age of life past infancy and toddler period. Type III is a much slower progression of the disease.

There is no need for separate diagnosis as symptoms of the disease starts occurring after first or second year of birth. However, for Type III diagnosis may be required which will include CT scans and X-ray of the brain. Therefore, treatment will depend on the type of CS you have. It will usually is characterized by symptomatic and supportive therapies. It can also involve minor surgeries like the removal of the cataract, wearing high-factor sunscreen and protective clothing. Other methods like physical therapy, vocational services, and medications for spasticity and tremors, gastronomy tube placement as needed and special education is also provided. Genetic counseling is also given to family members or parents.

Cockayne Syndrome is a rare disorder that is destructive and results in death eventually. Babies suffering from Type I and II condition of the disease experience symptoms like smaller head size (microphelay), short stature, and failure to gain weight, increased sensitivity to sunlight (photosentivity), hearing loss, vision loss, severe teeth cavities and other developmental delays. Type II is more severe than Type I. However, Type III is a milder form of the disease and is characterized by slower progression of the disease. If your baby shows any of the mentioned symptoms or signs, then he or she is eligible for the treatment of CS.

People who do not show the symptoms of Cockayne Syndrome is not eligible for the treatment.

As there is no definite treatment for Cockayne syndrome, side effects for the physical therapy and other supportive method are not present. However, complications like hypertension and renal and hepatic dysfunction can arise because of the neurological delays.

Treatment for Cockayne Syndrome includes supportive and symptomatic care. Therefore, there are no post-treatment guidelines as such. You will be advised for optimal nutrition intake to supplement the neurological and developmental delays. Other method like physical therapy is given to prevent joint contractures. Dental care is also given to minimize tooth decay and cavities. Try to make a home safety assessment to prevent accidental falls

The most important thing to remember is the yearly or monthly visits to the hospital or doctor’s chamber for prevention of any complication like hypertension, renal or hepatic dysfunction and declining of vision and hearing.

Recovery period for Cockane Syndrome is lifelong as there is no cure for the disease.

The treatment for Cockayne Syndrome is pretty high in India as treatment and recovery is life-long. Therefore, pricing usually starts at Rs.50,000 an can go up to Rs.2,00,000.

The result of the treatment method used for Cockayne syndrome is not permanent as the disease is rare and congenital condition that have no cure. The prognosis of the disease depends on the type of CS you have. Type I usually sees a life expectancy of 10 to 20 years and Type II which is more severe that Type I has a lifespan of 2 to 7 years. Type III which is a milder form of Type I has a better outcome with individuals living till 30 to 40 years of age.

As there are no cure for Cockayne Syndrome, alternative treatment is also nil.