Genetics of Cockayne Syndrome Treatment & Management

Updated: Dec 02, 2019
  • Author: Reem Saadeh-Haddad, MD; Chief Editor: Maria Descartes, MD  more...
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Treatment

Medical Care

Treatment of patients with Cockayne syndrome type I depends solely on the presenting symptoms.

Developmental evaluations will allow the individual to receive appropriate services through their county as well as an individualized educational program. Various management strategies include the following:

  • Physical therapy - Helps to prevent contractures and maintain ambulation
  • Feeding therapy - Including consideration of gastrostomy tube for failure to thrive
  • Management of hearing loss - Ie, hearing aids or other devices, if necessary
  • Evaluation for and, if necessary, treatment of cataracts
  • Administration of antiseizure and antispasticity medications, if necessary
  • Limitation of UV radiation exposure - Sunscreen should be applied liberally, and excessive sun exposure should be avoided; sunglasses will help with the photosensitivity of the eyes
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Diet

No special diet alters the prognosis. A gastrostomy tube may prevent malnutrition in patients who feed poorly.

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Activity

Physical therapy is essential to enable patients to avoid joint contractures and prolong ambulation.

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Long-Term Monitoring

Evaluations provided yearly, at minimum, are required to assess for known complications or worsening status neurologically, audiologically, and visually.

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