Evaluation of communicative and functional abilities in Wolf-Hirshhorn syndrome

Background. Wolf-Hirschhorn syndrome (WHS) is a genetic condition characterized by many clinical disorders, learning difficulties, dysphagia, neuromotor deficits and communicative deficits. Up until now, no studies in the literature have described the development of communicative and functional abilities in subjects with WHS. Method. In the present study of 11 patients with WHS, a descriptive analysis was made of several abilities and three groups of patients were identified on the basis of the severity of their functional deficit. Results. A non-homogeneous picture of impairment emerged in various areas of development. Overall, the neuromotor abilities of these patients were more adequate than their abilities related to autonomy in personal life, alimentary function, and cognitive and communicative-linguistic aspects. Conclusion. Based on the identification of specific patterns of communicative and functional impairment in subjects with WHS, rehabilitative intervention strategies can be planned to increase their communicative opportunities, and possibilities for active and autonomous participation in various life contexts (e.g. home, school and the social environment.