COCKAYNE SYNDROME

Course overview

COCKAYNE SYNDROME, FIRST DESCRIBED IN 1936 BY DR. COCKAYNE, IS A RARE GENETIC DISORDER, MAINLY CHARACTERIZED BY GROWTH DISORDERS, INTELLECTUAL DEFICIT, NEUROMOTOR DIFFICULTIES, AND IMPAIRED VISION AND HEARING. THE CHILDREN LOOK CACHECTIC WITH A PREMATURELY AGED FACE. THERE ARE DIFFERENT TYPES OF THE SYNDROME. THEY DEPEND ON THE AGE AT WHICH THE DISEASE MANIFESTS ITSELF AND THE SEVERITY OF THE MANIFESTATIONS: TYPE 1 IS ALSO CALLED "CLASSICAL FORM." IT USUALLY OCCURS AT ONE YEAR OF AGE BY STUNTING AND NEUROLOGICAL DISORDERS, FOLLOWED BY A DECLINE IN VISION AND HEARING. TYPE 2 IS A SEVERE FORM OF THE SYNDROME. NEUROLOGICAL DISORDERS AND SOME OCULAR ABNORMALITIES ARE PRESENT FROM THE OUTSET AT BIRTH. TYPE 3 CORRESPONDS TO A MODERATE FORM. THERE ARE 2 OTHER RARE, SPECIAL FORMS OF COCKAYNE SYNDROME. THIS ACTIVITY REVIEWS THE EVALUATION AND MANAGEMENT OF COCKAYNE AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN EVALUATING AND IMPROVING CARE FOR PATIENTS WITH THIS CONDITION.