Spoznavanje in soočanje staršev in strokovnih delavcev z diagnozo Pallister Killian sindrom

Kuder, Anja (avtor), Žgur, Erna (mentor)

Pallister Killian sindrom je redka genetska bolezen; zaradi neraziskanosti ima diagnozo Pallister Killian sindrom na svetu le okrog 500 oseb, od tega ena v Sloveniji. Težave se pri osebah s Pallister Killian sindromom pojavljajo na vseh področjih funkcioniranja, pogoste so pridružene bolezni, prisotni so intelektualni primanjkljaji, ki se pojavljajo na kontinuumu od lažjih motenj v duševnem razvoju pa vse do težkih motenj v duševnem razvoju. Pogosta je pridruženost avtistične motnje, ki še dodatno ovira že tako slabo razvit govor. Zaradi izrazitih primanjkljajev na več področjih so osebe s Pallister Killian sindromom vključene v prilagojene vzgojno-izobraževalne programe. Kljub temu da lahko Pallister Killian sindrom diagnosticirajo že v prenatalnem obdobju, se to zgodi zelo redko. Večinoma starši in otroci na diagnozo čakajo dalj časa, potrebni so obiski različnih specialistov, tudi zaradi pridruženih primanjkljajev na različnih področjih. Vse to je za družino naporno, vpliva na družinsko dinamiko, počutje družinskih članov in na pogosto stisko staršev. Ko specialisti ugotovijo, kakšna je otrokova diagnoza, je pomembno, da jo staršem sporočijo na primeren, empatičen način, saj se staršem v trenutku, ko jim je sporočena diagnoza otroka, spremeni svet. Z magistrskim delom smo želeli ugotoviti, kako so se starši in učitelji prvič seznanili z diagnozo Pallister Killian sindrom in kateri so ključni dejavniki, ki so vplivali na razumevanje diagnoze ter soočanje z le-to. Želeli smo ugotoviti, kakšni načini pomoči so bili staršem in učiteljem nudeni v procesu spoznavanja in soočanja z diagnozo. Učitelji, ki poučujejo otroke z diagnozo Pallister Killian sindrom, so običajno specialni in rehabilitacijski pedagogi, in se z otroki s to diagnozo srečujejo v vseh obdobjih izobraževanja – v času zgodnje obravnave, osnovnošolskega izobraževanja ter drugih obravnav, ki jih ti otroci potrebujejo. Dobro poznavanje značilnosti Pallister Killian sindroma, predvsem zdravstvenih posebnosti, ter opazovanje otrokovega funkcioniranja lahko izboljša kakovost dela z otroki in njihovimi starši. Za pridobitev odgovorov smo z udeleženci raziskave izvedli anketo, kasneje pa smo njihove odgovore poglobili s pomočjo intervjuja. Uporabili smo deskriptivno in kavzalno-neeksperimentalno metodo pedagoškega raziskovanja. Izvedli smo kvalitativno študijo primera z neslučajnostnim namenskim vzorcem. Raziskava je pokazala, da je bila staršem diagnoza sporočena preko telefona in nato tudi v živo, ko je bila deklica stara tri leta in nekaj mesecev. Učiteljicama je bila diagnoza sporočena ob všolanju deklice v posebni program vzgoje in izobraževanja. Niti staršem niti učiteljem v času spoznavanja in soočanja z diagnozo niso bili nudeni sistematični načini pomoči, npr. izobraževanja za učitelje, pomoč sta starša iskala drug pri drugem, prav tako učiteljici, ki sta nekaj odgovorov na svoja vprašanja pridobili s strani staršev deklice.

• Jezik: Slovenski jezik
• Ključne besede: Pallister Killian sindrom
• Vrsta gradiva: Magistrsko delo/naloga
• Tipologija: 2.09 - Magistrsko delo
• Organizacija: PEF - Pedagoška fakulteta
• Leto izida: 2022
• PID: 20.500.12556/RUL-137929
• COBISS.SI-ID: 113734147
• Datum objave v RUL: 11.07.2022

Sekundarni jezik

• Jezik: Angleški jezik
• Naslov: Parents and teachers learning about and coping with the diagnosis of Pallister Killian syndrome emagistrsko delo

Izvleček

Pallister Killian syndrome is a rare genetic disorder. Little research has been conducted on this disorder, that is why only about 500 people in the world are diagnosed with Pallister-Killian syndrome, one of them in Slovenia. People with Pallister Killian syndrome have problems in all areas of functioning, overlapping with many other associated diseases. One of them is the intellectual function deficit that varies from mild to severe intellectual disabilities. The association of Pallister-Killian syndrome with autistic disorder is also common, which further hinders the already poorly developed speech. Due to distinct deficits in several areas, people with Pallister Killian syndrome attend programs in special education schools. Although Pallister Killian syndrome can be diagnosed before birth, it is very rare. Parents and children mostly wait a long time for a diagnosis. They need to visit various specialists because of other associated deficits. All this is stressful for the family, it affects its dynamics, the well-being of the family members and the frequent distress of parents. Once the specialists determine the child's diagnosis, it is important that it is conveyed to the parents in an appropriate, empathetic way, as the world changes for the parents when their child is diagnosed. The aim of the master thesis was to determine how teachers and parents first became acquainted with the diagnosis of the Pallister Killian syndrome and which are the key factors that affect the understanding it and coping with it. We wanted to disclose the forms of help that were offered to parents and teachers in the process of getting to know and dealing with the above-mentioned diagnosis. Teachers who teach children diagnosed with Pallister-Killian syndrome are usually special needs and rehabilitation teachers. They encounter children with this diagnosis at all stages of education; during early treatment and primary education as well as during all other phases of treatment which the children require. A high level of expertise in the characteristics of Pallister Killian syndrome, especially knowing the health specifics, and observing the child's performance can improve the quality of work with the children and their parents. A survey was conducted with the participants of the research with the aim of obtaining answers. These were later expanded with the help of an interview. A descriptive and a causal-non-experimental method of pedagogical research were used. A qualitative case study with a non-randomized sample was implemented. The survey showed that the diagnosis was communicated to the parents over the phone as well as in person later. This was performed when the girl was three years and a few months old. The two teachers were informed of the diagnosis when the girl was enrolled in a special education program. Neither parents nor teachers were offered systematic ways of help during the time familiarizing and dealing with the diagnosis, for example teacher education. The parents sought help in each other. The teachers received some answers to their questions from the girl's parents.

• Ključne besede: Pallister Killian syndrome