Behavioural Phenotype of Smith-Magenis Syndrome (SMS): Individual characteristics and parental and school staff's experiences
Keywords:
Smith-Magenis Syndrome, behaviourSynopsis
Smith-Magenis’ syndrom er en sjelden og kompleks genetisk tilstand. Det anslås at rundt 1 av 15.000-25.000 levendefødte barn har diagnosen, og i Norge vet vi om ca 40-50 kjente tilfeller. Denne studien søker å bringe ny kunnskap om atferd hos personer med Smith-Magenis’ syndrom, både i pedagogiske miljøer og i hjemmet, ved å inkludere både skolepersonalet og foreldrenes erfaringer med personer med Smith Magenis’ syndrom.
Målet med doktoravhandlingen er å utforske utfordrende atferd knyttet til en sjelden diagnose, for å forstå hvordan og hvorfor atferden oppstår. Smith-Magenis syndrom medfører utviklingshemning, medfødte misdannelser, overvekt, nevroutviklingsforstyrrelser og en forstyrret døgnrytme. Men i tillegg har barn og voksne med Smith Magenis’ syndrom ofte karakteristiske egenskaper som er spesielt utfordrende for både foreldre og fagfolk. Disse inkluderer søvnforstyrrelser, selvskading og utfordrende atferd, stereotypier og sensoriske utfordringer.
For å utforske utfordrende atferd hos personer med en sjelden diagnose, benytter studien en kombinasjon av ulike tilnærminger karakterisert som en multimetodedesign. Doktorgradsavhandlingen inneholder kvalitative og kvantitative metoder, samt Q-metode. I studien deltar foreldrene til 36 personer med Smith Magenis’ syndrom i aldersspennet 1,5 til 50 år. Totalt 18 av personene var fra Norge, 13 fra Sverige og 5 fra Danmark.
Det første målet med denne doktorgradsavhandlingen er å utforske karakteristikkene til personer med Smith Magenis’ syndrom i den skandinaviske befolkningen, og forholdet mellom de ulike spesifikke egenskapene. De to mest interessante funnene i disse to artiklene er at autismespektervansker hos personer med Smith Magenis’ syndrom forekommer oftere hos kvinner enn menn, som er motsatt av resten av befolkningen, og at det er en nedgang i atferdsmessige og emosjonelle vansker med alderen.
Det andre målet med doktorgradsavhandlingen er å undersøke erfaringene blant skolens ansatte og hvordan skolens ansatte håndterer den utfordrende atferden til personer med Smith Magenis’ syndrom. For skolepersonalet ser det ut som om ikke-utagerende atferd oppleves mer utfordrende enn utagerende atferd. Støtte fra skolens ledelse er også spesielt viktig når man arbeider med elever med Smith Magenis’ syndrom.
Den siste målsetningen med denne avhandlingen tar for seg foreldrenes erfaringer med å ha et barn med Smith Magenis Syndrom, med fokus på utfordrende atferd. Foreldrene har en opplevelse av å bli misforstått av fagfolk, og opplever at den utfordrendene atferden øker fordi det er noen spesifikke karakteristikker av Smith Magenis’ syndrom som fagfolk ikke er klar over eller ikke tar hensyn til i sine hjelpetjenester.
Bruken av en multimetodedesign og data fra ulike kilder har gitt mulighet til å utforske utfordrende atferd ved Smith Magenis’ syndrom fra ulike perspektiver. Dette har vært nyttig, og ny kunnskap har blitt funnet ved å utforske det samme emnet med flere metoder og på tvers av ulike informanter (skoleansatte og foreldre) og i ulike situasjoner (hjem og skole).
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