magistrsko delo
Mangala Serčič (Avtor), Mojca Lipec-Stopar (Mentor), Jerneja Novšak Brce (Komentor)

Povzetek

V nalogi smo opisali sindrom delecije 19p13.13 kromosoma (v nadaljevanju tudi delecija 19. kromosoma, sindrom delecije 19. kromosoma ali skrajšano sindrom), ki sodi zaradi malo opisanih oseb med redke sindrome. Prevalenca sindroma ni znana, literatura pa opisuje zgolj 10 primerov. Tudi v Sloveniji imamo zabeležen en primer sindroma delecije 19. kromosoma, zato smo v ta namen izvedli študijo primera petletnega otroka s sindromom delecije 19p13.13 kromosoma. V teoretičnem delu smo na podlagi tujih študij primerov, ki so podrobneje predstavili ter opisali posameznike in njihove značilnosti na telesno-gibalnem, spoznavnem, čustveno-osebnostnem ter socialnem področju, opisali značilnosti sindroma delecije 19. kromosoma. Opise posameznikov smo nato primerjali z značilnostmi razvoja izbranega otroka, ki smo ga dobili v logopedsko surdopedagoško obravnavo februarja leta 2019. Ugotovili smo, da se otrokove splošne značilnosti večinoma skladajo z ugotovitvami tujih študij primerov, pri čemer se v glavnem navaja hipotonija telesa, nenavadno velika glava, težave z vidom, prebavne težave in šibke finomotorične spretnosti. Opisane značilnosti smo zaznali tudi pri izbranem otroku. Opisi oseb s tem sindromom v literaturi večkrat omenjajo, da posamezniki odstopajo tudi na komunikacijskem področju, pri čemer se najpogosteje poroča o njihovem govorno-jezikovnem zaostanku. Najpogosteje preidejo na stopnjo vokalizacije pozneje, pa tudi glasove usvajajo kasneje kot njihovi sovrstniki. Nekateri govora ne uspejo razviti nikoli, zato ostane njihova komunikacija na neverbalnem nivoju. Drugih podatkov o področju komunikacije, govora in jezika nimamo, kar priča o slabo raziskanem strokovnem ozadju v literaturi. Poznavanje razvoja na omenjenem področju je ključnega pomena za uspešno logopedsko surdopedagoško terapijo, zato smo se v nalogi poglobili v oceno komunikacije petletnika. Otrokovo funkcioniranje na področju komunikacije, govora in jezika smo opisali s pomočjo znanih razvojnih mejnikov, logopedskega izvida otrokove logopedinje v zdravstveni ustanovi, naše ocene, pridobljene s Komunikacijsko matriko, ocene otrokovih staršev (pridobljena z Ocenjevalno lestvico socio-pragmatičnih spretnosti) ter odgovorov polstrukturiranega intervjuja z dečkovo vzgojiteljico in spremljevalko v oddelku. Po pridobljenih podatkih smo ugotovili, da je otrokov razvoj komunikacije, govora in jezika še v obdobju oblikovanja glasovnega govora in jezika, ki sicer traja od otrokovega prvega do tretjega leta starosti. Primerjava z razvojnimi mejniki je pokazala, da dečkove sposobnosti ustrezajo sposobnostim 12 mesecev starega otroka, kar priča o njegovem zaostanku v govorno-jezikovnem razvoju. Z raziskavo smo želeli pripomoči k širšemu poznavanju sindroma med logopedi in drugimi strokovnjaki, ki se ukvarjajo z izbrano populacijo, ter s podrobnejšimi podatki dopolniti že znana teoretična spoznanja. Na podlagi ugotovitev smo osnovali predlog nadaljnje logopedske surdopedagoške terapije.

Ključne besede

govorno-jezikovni razvoj;govorno-jezikovne motnje;študija primera;delecija 19. kromosoma;

Podatki

Jezik: Slovenski jezik
Leto izida:
Tipologija: 2.09 - Magistrsko delo
Organizacija: UL PEF - Pedagoška fakulteta
Založnik: [M. Serčič]
UDK: 376:159.946.3(043.2)
COBISS: 31166467 Povezava se bo odprla v novem oknu
Št. ogledov: 224
Št. prenosov: 27
Ocena: 0 (0 glasov)
Metapodatki: JSON JSON-RDF JSON-LD TURTLE N-TRIPLES XML RDFA MICRODATA DC-XML DC-RDF RDF

Ostali podatki

Sekundarni jezik: Angleški jezik
Sekundarni naslov: Communication characteristics of a child with 19p13.13 deletion syndrome
Sekundarni povzetek: In this thesis, we described the 19p13.13 chromosome deletion syndrome (the chromosome 19 deletion, the 19th chromosome deletion syndrome or abbreviated syndrome), which is one of the rare syndromes due to the small number of described persons. The prevalence of the syndrome is unknown and only 10 cases of individuals have been described in the literature. In Slovenia we also have a case of this rare syndrome, which is why we have made a case study of a five-year-old child with 19p13.13 chromosome deletion syndrome. The theoretical part was based on foreign case studies, which presented and described individuals and their characteristics in the physical-motor, cognitive, emotional-personal and social field. The descriptions of individuals were then compared with the characteristics in the development of the selected child, who was received in February 2019 for speech and language therapy. We found out that the child's general characteristics were consistent with the findings of foreign case studies, including body hypotonia, unusually large head, vision problems, digestive problems and weak fine motor skills. The described characteristics were also detected in the selected child. Existing literature claims that individuals with the syndrome also lag behind in communication skills with most often reported delay in speech and language development. Most often these children move to the stage of vocalization and acquire voices later compared to their peers. Some children fail to develop speech, leaving their communication on a nonverbal level. We have no other data on communication, language and speech, which testifies that the professional background of this field is poorly researched in the literature. Knowledge of this is important for successful speech and language therapy, so we decided to assess the communication of a 5-year-old child. We described child’s functioning in communication, speech and language based on known development milestones, speech therapy report of the child's speech therapist in the health institution, our assessment with the Communication Matrix, the assessment of the child's parents who assessed the child's sociopragmatic skills using Assessment Scale and the answers of a semi-structured interview. According to the obtained data, we found out that the child's development is still in the period of formation of voice speech and language, which lasts from child’s first year to his third year. A comparison with developmental milestones showed us that the boy's abilities correspond to the abilities of a 12-month-old child, which demonstrates a delay in his speech and language development. The aim of the research was to contribute to a wider knowledge of the syndrome among speech therapists and other professionals dealing with the selected population and to obtain more detailed information that complements already known theoretical findings. Based on the findings, we established a proposal for further speech and language therapy.
Sekundarne ključne besede: communication;komunikacija;
Vrsta datoteke: application/pdf
Vrsta dela (COBISS): Magistrsko delo/naloga
Komentar na gradivo: Univ. v Ljubljani, Pedagoška fak., Oddelek za specialno in rehabilitacijsko pedagogiko, Katedra za logopedijo in surdopedagogiko
Strani: VII, 71 str.
ID: 12061368