Sotos syndrome is a genetic disorder caused by the deletion or mutation of the NSD1 gene on the 35th chromosome. It is inherited in an autosomal dominant manner or as a de nuovo pathogenic variant. Children with Sotos syndrome have characteristic facial features, experience excessive physical growth before and after birth, and later learning difficulties (Tatton-Brown and Rahman, 2007).
Since the Sotos syndrome is a very rare genetic disorder, only little information about the syndrome is available. In the theoretical part, we therefore set out in detail the Sotos syndrome and the route to diagnosis, as well as the specific and general phenotypic characteristics of the syndrome. Sotos syndrome can be classified into a group of syndromes of excessive growth, which share similar characteristics. An accurate differential diagnosis is crucial for predicting the course and the quality of a child's life and thus identify the help needed.
In the master's thesis we focus more closely on the speech and language of people with Sotos syndrome.
In the empirical part, we present a 6.5-year-old girl with Sotos syndrome who attends an adapted pre-school programme with additional professional assistance. In evaluating the girl and describing her performance we used different instruments. We have conducted an interview with the girls' parents and have inquired about the girl's development, handling daily life situations and communication at home, and her socio- pragmatic abilities. Based on the data, we have formed a speech-and-language profile of a pre-school child with Sotos's syndrome before entering school.
The findings of available foreign research on individuals with Sotos syndrome indicate a lager or a minor lag in the speech and language development. People with Sotos Syndrome face most difficulties in the areas of expressive language and socio- pragmatic abilities, otherwise their language abilities coincide with their intellectual functioning. These findings were also confirmed in our research. The girl experiences problems mainly with articulation, expressive language, word retrieval, in the field of socio-pragmatics, abstract thinking and with the problem-solving ability. Nevertheless,
she understands and expresses emotions well, is sensitive and empathetic. The difficulties she encounters are caused by Sotos syndrome and perinatal asphyxia. We conclude that people with Sotos syndrome have language problems, experience difficulties in the field of socio-pragmatics and that the severity of their problems is also dependent on their associated problems or complications.
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