Speech and language abilities in a boy with partial trisomy 7q
| Autor: | Emica Farago, Matea Jukić |
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| Rok vydání: | 2017 |
| Předmět: | |
| Zdroj: | Paediatria Croatica Volume 61 Issue 1 |
| ISSN: | 1330-1403 1846-405X |
| DOI: | 10.13112/pc.2017.5 |
| Popis: | Parcijalna trisomija 7q (7q) rijetka je genetička pogrješka defi nirana duplikacijom dugog kraka 7. kromosoma. Karakterizirana je višestrukim teškoćama u spoznajnom i motoričkom razvoju, karakterističnim obilježjima fenotipa i teškoćama učenja. Klinička slika je vrlo varijabilna i ovisi o količini dupliciranog segmenta. Cilj ovog rada bio je standardiziranim mjerenjima ispitati opseg receptivnog rječnika, razumijevanje gramatike, usvojenost predvještina čitanja i pisanja, govorno-motoričke i pripovjedne sposobnosti te kakvoću glasa dječaka s parcijalnom trisomijom 7q. Dječakova dob je bila 7 godina i 10 mjeseci. Obradom podataka utvrđeno je da dječak ima smanjen opseg receptivnog rječnika, postiže umjereno nizak rezultat na TROG-2:HR testu razumijevanja gramatike, govorno-motoričke sposobnosti su narušene kao i kakvoća glasa te su vidljive teškoće u grafomotoričkoj izvedbi i zadatcima vizualne percepcije. Dječak ima usvojene neke predvještine čitanja i pisanja. Uredno postignuće pokazuje na varijablama raščlambe rečenice na riječi, varijabli fonemske svjesnosti i fonološkog imenovanja velikih i malih slova. Partial trisomy on chromosome 7 (7q) is a rare condition resulting from duplication of the 7q long arm. It is usually associated with delayed psychomotor development, characteristic phenotypic features and profound learning disabilities. The clinical picture is highly variable and depends on the size of duplicated segments. The aim of this study was to examine the range of receptive vocabulary and understanding of grammar, acquisition of early reading and writing skills, speech and motor skills, voice quality and narrative abilities in a boy with partial trisomy 7q. The child’s chronological age during the study period was 7 years and 10 months. Data analysis showed that the boy had a reduced range of receptive vocabulary and achieved low scores on the test of grammar reception (TROG-2: HR). His speech and motor skills were impaired, as well as his voice quality. The boy had acquired some early reading and writing skills. He showed good results in the variables of breaking down sentences to words, variable of phonemic awareness and phonological naming of uppercase and lowercase letters. |
| Databáze: | OpenAIRE |
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