KBG syndrome is a rare genetic disorder affecting several organ systems. It was first described by J. Herrmann in 1975. The mutation is located in the ANKRD11 gene and follows an autosomal dominant inheritance pattern. Typical symptoms include unusual facial features and skeletal abnormalities. These symptoms are present from birth, but may be overlooked until the onset of a general developmental delay. Most patients with KBG syndrome exhibit mild intellectual disability. Other common comorbidities include emotional and social difficulties, autism spectrum disorders, and attention deficit and hyperactivity disorder. The number of patients with a KBG syndrome diagnosis worldwide is extremely small, which is why there have been, to my knowledge, no studies dedicated exclusively to their speech and language development. The child with KBG syndrome who I provided with a year-long speech therapy treatment also had mild intellectual disability, which is why his storytelling scores were compared to those of children with the same intellectual disability, as well as to the expected scores for younger and same-age typical development groups. Language acquisition in children with intellectual disabilities is slower compared to typically developing children. Lexical development is impaired by a variety of factors – intellectual deficits affecting the ability to categorize objects and make generalizations, a short attention span, low memory functions and problems with recall, fewer strategies for word learning, and a less developed vocabulary. Their communicative skills are likewise less developed. The deficits manifest themselves in production, reception, and expression alike. Storytelling provides an insight into the linguistic, cognitive, and social development of a child. The activity requires an integration of all three abilities. Studies of children with intellectual disability have found that their storytelling ability levels in terms of sentence length, morphological and lexical variety, and the use of narrative devices is on a par with their mental age. However, they perform worse when it comes to the use of linguistic cohesion markers, recognizing the emotional state of characters, and appropriate use of reference. The initial goal of our sessions was to establish what the story-telling ability level of the child with KBG syndrome was. This served as the basis for a detailed work plan, with the aim of developing the storytelling ability further. At the beginning and the end of the treatment an assessment was made by means of two standardized tests – Preizkus pripovedovanja zgodbe: Žabji kralj1 and Splošni govorni preizkus: pisno sporočanje2. Improvements to the cohesion and coherence levels were tracked by means of an analysis of the child’s retelling of a story after listening to it being read from a picture book, his independent storytelling based on picture prompts, and his self-description. The child with KBG syndrome and mild intellectual disability achieved significant progress in language development during the course of the speech therapy sessions. At the start of the therapy the child was 9 years and 2 months old and his speech and language competence matched that of typically developing 4 to 6 year olds. At the end of the sessions the child was 10 years and 2 months and achieved the level of competence equivalent to that of typically developing 8 to 9 year olds. Major progress was observed in the area of coherence and minor progress in the area of cohesiveness.
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