Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments. The aim of this article is to provide an overview of the literature relating to deglutition and communication in individuals with CS to guide management of this complex disease and highlight clinical knowledge gaps. Pertinent articles and case reports on CS, published between 1990 and 2024, were reviewed in three domains: etiology, dysphagia, and communication. Our review indicates that individuals with CS experience significant early delays and later declines in communication and swallowing abilities. Larger cohort studies document the general occurrence of these impairments, while smaller case series and single-case reports have examined some of these issues in greater detail. We did not find larger cohort reports systematically assessing these domains quantitatively, indicating significant knowledge gaps regarding clinical complications impacting quality of life. Qualitative documentation of swallowing and communication impairments reported to date supports speech-language pathologists' inclusion on multidisciplinary teams caring for individuals with CS. Given the paucity of literature systematically characterizing the swallowing and communication of individuals with CS, further investigation is warranted to provide more targeted care.
Spoden et al. (Mon,) studied this question.