Genetics of Cockayne Syndrome Follow-up

Outpatient care includes the following:

• Monitoring patients for hypertension, renal pathology, hearing loss, and dental caries

• Administering physical therapy to delay the onset of joint contractures

• Providing yearly evaluations of neurologic function

• Providing ophthalmologic assessments

See the list below:

• Use of a gastrostomy tube may prevent malnutrition in patients with Cockayne syndrome (CS) who feed poorly.

Advise patients to avoid excessive sun exposure and to use sunscreen liberally when outdoors.

Complications of Cockayne syndrome include the following:

• Intellectual disability

• Developmental delays

• Growth failure

• Progressive pigmentary retinopathy and/or cataracts

• Sensorineural hearing loss

• Joint contractures, ataxia, tremor, seizures and/or spasticity

• Hypertension

• Photosensitivity

• Premature death

Cockayne syndrome type I is an autosomal recessive disorder resulting in growth failure and progressive neurologic dysfunction; death usually occurs during adolescence, but survival into adulthood is possible. In Cockayne syndrome type II, a more severe condition, death occurs in the first decade.

Recommend genetic counseling, because each sibling subsequently born to the parents of an affected child will have a 25% risk of having Cockayne syndrome. Reproduction has not been reported in anyone with known Cockayne syndrome type I or II.

If the disease-causing mutations have been identified in an affected individual, subsequent pregnancies can be tested to determine the status. Such testing can be offered via pre-implantation genetic diagnosis, which is performed prior to conception, or prenatally via chorionic villus sampling or amniocentesis.

Cultured cells obtained from patients with Cockayne syndrome are hypersensitive to the lethal effects of UV radiation. Also, the normal recovery in DNA and RNA synthesis after UV exposure does not occur in those cells. Measuring RNA synthesis and the secondary DNA synthesis of cultured amniocytes after irradiation with UV light has been successful in the prenatal diagnosis of Cockayne syndrome in countries where genetic testing is not available or in those families in whom the disease-causing mutations have not been identified.

Advise parents that treatment is supportive and based on symptoms.

Optimize neurologic and neurosensory abilities in the patient.

Provide contact information for the Share & Care Cockayne Syndrome Network so that the patient's family can utilize community support.