Speech and Communication Development in Apert Syndrome. A Case Study

Abstract

Apert syndrome is a rare genetic disorder characterized by congenital, premature fusion of cranial sutures (craniosynostosis) and syndactyly (fusion of fingers and/or toes). Research presented in the literature indicates that developmental disorders in this syndrome are complex and affect all aspects of a child’s functioning, including cognitive, linguistic, emotional, social, and educational domains. In this syndrome, we are dealing with a multifactorial pathogenesis of speech and communication disorders. Treating children with Apert syndrome poses a significant diagnostic and therapeutic challenge. As it results from the literature and speech therapy practice, in the therapy of children with Apert syndrome, a multi-profile and individualized approach is necessary in relation to the needs of a specific patient.

This article presents the case of a five-year-old boy who underwent a speech-language assessment covering the structure and function of the speech apparatus, articulation, phonemic hearing, expressive vocabulary, word-formation skills, and narrative abilities. Information from available medical documentation as well as data obtained from an interview with the boy’s mother was also used to provide a comprehensive characterization of various areas of the child’s functioning.