magistrsko delo
Bernarda Pavletič (Author), Erna Žgur (Mentor)

Abstract

Sindrom CTNNB1 je redki genski sindrom. Zaradi njegove neraziskanosti ima trenutno na svetu to diagnozo manj kot 500 oseb; med njimi je ena v Sloveniji. Pri dojenckih s sindromom CTNNB1 najpogosteje opazimo kognitivni, gibalni in govorni zaostanek, spremenjen mišicni tonus, mikrocefalijo in težave z vidom. Obdobje dojencka je za mame že samo po sebi stresno, kar lahko otrokovo zaostajanje v razvoju še poglobi. Diagnoza posebnih potreb pri otroku lahko vpliva na custvovanje mame, partnerski odnos in odnose z bližnjimi. Mame, katerih otroci prejmejo diagnozo sindroma CTNNB1, se z otrokovo diagnozo soocajo na razlicne nacine, z razlicno intenziteto, v razlicnih casovnih okvirjih. Na poti do sprejemanja drugacnosti otroka se lahko soocajo z obcutki žalosti, zanikanja, jeze in strahu. Pri tem je pomembno, da dobijo ustrezno podporo partnerja, širše družine in strokovnih delavcev. Z magistrskim delom želimo ugotoviti, kako se mame soocajo z diagnozo sindroma CTNNB1 v prvem letu otrokove starosti, zato smo v raziskavo vkljucili mamo, katere otrok je diagnozo prejel že kot dojencek. Specialni in rehabilitacijski pedagogi se z dojencki s sindromom CTNNB1 srecujemo znotraj zgodnje obravnave, ki je kljucnega pomena za otrokov napredek. Pomembno je, da v zgodnjo obravnavo aktivno vkljucujemo vso družino, zato nam lahko dober vpogled v znacilnosti in funkcioniranje otrokove družine pomaga pri kakovostnejši obravnavi otroka. V raziskavi smo uporabili deskriptivno metodo in kavzalno neeksperimentalno metodo pedagoškega raziskovanja. Izvedli smo kvalitativno študijo primera z neslucajnostnim priložnostnim vzorcem, ki zajema eno mamo otroka, ki je diagnozo sindroma CTNNB1 prejel že kot dojencek. Uporabljen instrumentarij je strukturiran intervju, vprašanja pa so vezana na tri tematske sklope, povezane s procesom soocanja mame. Prvi tematski sklop se nanaša na izkušnje, povezane z opažanjem otrokovega zaostanka v razvoju; drugi tematski sklop se nanaša na obcutke, ki jih je mama doživljala ob prejemu diagnoze; tretji tematski sklop pa se nanaša na spreminjanje z diagnozo povezanih obcutkov skozi cas, pridobivanje informacij in ob podpori okolja. Z raziskavo smo ugotovili, da je mama do prvega pregleda pri pediatrinji na dojenckov zaostanek gledala sprošceno. Na diagnozo so cakali devet mesecev, posredovana jim je bila po telefonu na umirjen, socuten in spodbuden nacin. Takoj po prejemu diagnoze je mama cutila olajšanje, hkrati pa ni bila pretirano zaskrbljena glede deckove prihodnosti. S prvim vecjim šokom se je soocila po pregledu psihologinje, ki jo je prva opozorila na resnost otrokovega zaostanka. Mama je bila sprva v šoku in zanikala je njene ugotovitve. Obcutila je tudi jezo na vse, kar je decku sindrom CTNNB1 onemogocil, iz prostora je umikala njegove terapevtske pripomocke in žalovala za sprošcenim, spontanim življenjem z otroki, ki je zaradi njegove diagnoze oteženo. Skozi cas pa se je njen pogled na otrokov napredek, terapevtske pripomocke in razvojni zaostanek spremenil. V najvecjo podporo so ji bili partner, družina, strokovni delavci ter izkušnje ostalih staršev otrok s sindromom CTNNB1. Študija primera ne predstavlja podlage za posploševanje pridobljenih podatkov, lahko pa bodo rezultati v pomoc mamam otrok s sindromom CTNNB1 in strokovnim delavcem, ki bodo delali z družino otroka s sindromom CTNNB1. Pridobljeni rezultati so nam služili kot izhodišce za oblikovanje smernic za pomoc mamam otrok s sindromom CTNNB1, ki so v zacetnih fazah soocanja z diagnozo.

Keywords

sindrom CTNNB1;dojenček s sindromom CTNNB1;soočanje mame z diagnozo;spoznavanje z diagnozo;redki genski sindrom;

Data

Language: Slovenian
Year of publishing:
Typology: 2.09 - Master's Thesis
Organization: UL PEF - Faculty of Education
Publisher: [B. Pavletič]
UDC: 376(043.2)
COBISS: 162272259 Link will open in a new window
Views: 53
Downloads: 4
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Other data

Secondary language: English
Secondary title: Mother's experience of dealing with her baby's diagnosis of CTNNB1 syndrome
Secondary abstract: The CTNNB1 syndrome is a rare genetic disorder. Due to the lack of research, less than 500 people in the world are currently diagnosed with it, including one in Slovenia. In infants with CTNNB1 syndrome, cognitive, motor, and speech delay, altered muscle tone, microcephaly, and vision problems are most commonly observed. For mothers, the infant period is stressful by itself, which can further deepen the child’s delay in development. A diagnosis of special needs in a child can affect the mother's emotions, partner relationship, and relationships with loved ones. Mothers of children diagnosed with the CTNNB1 syndrome deal with the diagnosis differently, with different intensity, and in different time frames. On their path of acceptance, they may face feelings of sadness, denial, anger, and fear. During this time, the support of their partner, family, and social workers is of key importance. The master's thesis aims to find how mothers deal with the CTNNB1 syndrome diagnosis in the first year of the child's age, which is why we included in our research a mother whose child was diagnosed with the disorder as an infant. Special and rehabilitation pedagogues meet infants with CTNNB1 syndrome as part of early treatment, which is crucial for the child's progress. It is also important to actively include the whole family, as good insight into the characteristics and functioning of the child’s family can positively affect the quality of the child’s treatment. We used a descriptive method and a causal non-experimental method of pedagogical research. We conducted a qualitative case study with a non-random sample of one mother of a child diagnosed with CTNNB1 syndrome as an infant. The used instrumentation is a structured interview, and the questions are linked to three thematic groups related to the mother's coping process. The first thematic group refers to experiences connected to the observation of a child’s delay in development; the second thematic group refers to the mother’s feelings experienced upon receiving the diagnosis; and the third thematic group refers to the change in those feelings over time after obtaining more information and receiving support from the environment. Our research shows that the mother’s approach to the infant’s delay in development was relaxed before the pediatrician's first examination. It took them nine months to receive the diagnosis, which was given to them calmly, compassionately, and encouragingly over the phone. Immediately after receiving the diagnosis, the mother felt relieved, while also not experiencing too much concern regarding the boy’s future. She faced her first major shock a psychologist’s warning about the seriousness of her child's delay. The mother was shocked and in denial. She felt angry at everything that the boy's CTNNB1 syndrome made impossible. She removed his therapeutic devices from the room and mourned the relaxed and spontaneous life with the child, which was made difficult due to his diagnosis. Her view of the child’s progress, therapeutic aids, and developmental delay eventually changed. Her partner, family, professionals, and the experiences of other parents of children with CTNNB1 syndrome provided the most support. The case study does not represent a basis for generalizing the obtained data, but the results may prove useful for mothers of children diagnosed with CTNNB1 and professionals who will work with families of such children. The obtained results served as a starting point for creating guidelines to help mothers of children with CTNNB1 syndrome who are in the initial stages of dealing with the diagnosis.
Secondary keywords: CTNNB1 syndrome;infant with CTNNB1 syndrome;mother's coping with the diagnosis;getting to know the diagnosis;rare genetic syndrome;Dojenčki;Genetika;Univerzitetna in visokošolska dela;
Type (COBISS): Master's thesis/paper
Study programme: 0
Thesis comment: Univ. v Ljubljani, Pedagoška fak., Specialna in rehabilitacijska pedagogika
Pages: 1 spletni vir (1 datoteka PDF (VII, 76 str.))
DOI: 20.500.12556/RUL-148463
ID: 19841885