Kognitivni fenotip kod Neurofibromatoze tip 1
Sažetak
Neurofibromatoze su skup različitih genetskih poremećaja kojima je zajednička karakteristika pojava tumora nervnog sistema. Razlikuju se tri oblika bolesti, od kojih je neurofibromatoza tip 1 (NF 1) najčešća. Nasleđuje se autozomno-dominantno, sa visokom stopom novih mutacija.
Pored brojnih fizičkih manifestacija i komplikacija koje se ispoljavaju kod osoba sa NF 1, prisutne su i brojne kognitivne teškoće, uključujući i opšte intelektualno funkcionisanje, smetnje učenja, ali i problemi na nivou pažnje, vizuo-spacijalnih sposobnosti, egzekutivnih funkcija, pa i govora. Poremećaj pažnje je i do tri puta češći kod osoba sa NF 1, dok su smetnje u učenju prisutne kod više od polovine ovih osoba. Poremećaji na planu vizuospacijalne percepcije su prepoznatljivi još u predškolskom periodu. Oko 80% dece s NF 1 pokazuje različite poremećaje govora i jezika – usporen rani razvoj govora, sporije obogaćivanje rečnika, sintaksičke, semantičke i fonološke poremećaje govora. Poremećaj egzekutivnih funkcija će se ispoljiti na planu radne memorije, organizacije, planiranja/rešavanja problema. Ovo će se odraziti na na slabija postignuća u akademskom obrazovanju. Skoro jedna trećina osoba sa NF 1 ima emocionalne i socijalne probleme.
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