Occupational Therapy in Cockayne Syndrome: A Case Report

Abstract

Introduction: Cockayne syndrome is a rare and autosomal recessive neurodevelopmental disorder characterized by symptoms such as progressive neurological disorder, photosensitivity, visual disturbances, microcephaly, premature aging, and birdlike nose, mustache, and early asymmetric eyes. The syndrome has three types; I, II, and III.
Results: The patient is an 8-year-old boy with Cockayne syndrome type II whose parents have a grade 3 relationship. The child received Occupational Therapy (OT) intervention since 9 months of age. When he was one year old he could control his head and at the age of 2.5 years he could crawl. At age 3, the child was able to cruise and express some words like mama, baba, and meow meow. However, these abilities are gone now and he is only able to barely sit and control his head. Since the child has continuously received occupational therapy since the age of 9 months, and his CS is of the type two (the worst type), it can be argued that the offered child-care services along with all medical treatment, were successful to slow the disease progress and prevent the occurrence of secondary problems.