Kliničke i kognitivne karakteristike Angelmanovog sindroma
Sažetak
Uvod: Angelmanov sindrom, kao redak genetski i neurorazvojni poremećaj okarakterisan teškim intelektualnim deficitom i zaostajanjem u psihomotoričkom razvoju, predstavlja izazov za adekvatno i pravilno kreiranje individualnog (re)habilitacijskog postupka. Preciznije određivanje kognitivnog i jezičkog profila biva onemogućeno zbog integrativnog hipermotoričkog ponašanja i deficita pažnje i govora. Cilj: Cilj ovog rada je analiziranje i sumiranje empirijskih podatka o kliničkim, kognitivnim i jezičkim karakteristikama Angelmanovog sindroma. Metode: Sistematski pregled literature objavljene u recenziranim publikacijama u periodu od 2001. godine do 5. juna 2021. godine izvršen je pretraživanjem elektronskih baza podataka koje su dostupne preko servisa Konzorcijuma biblioteka Srbije za objedinjenu nabavku – KOBSON. Korišćena je i „hand search” pretraga (Research Gate i Google Scholar). Rezultati: Analizirani rezultati istraživanja ukazuju da je za Angelmanov sindrom karakteristično prisustvo senzomotoričkih shema koje predstavljaju kognitivne strukture najranijeg detinjstva. Veštine receptivnog govora razvijenije su od ekspresivnih, koje najčešće ne postoje. Suportivna terapija koja uključuje intervencije u ranom detinjstvu, logopedske i okupacione programe veoma je značajna za tretman u okviru ove kliničke slike. Zaključak: Neophodno je unaprediti proces procene kognitivnih i jezičkih sposobnosti zbog ciljanog kreiranja individualnog kognitivno-jezičkog razvojnog profila. Isto tako ključno je identifikovati urgentna područja koja zahtevaju tretman i u kojima treba pružiti individualnu i porodičnu podršku.
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