Kliničke i kognitivne karakteristike Angelmanovog sindroma

Abstract

Introduction. Angelman syndrome, as a rare genetic and neurodevelopmental disorder characterized by severe intellectual deficit and falling behind in psychomotor development, represents a challenge for adequate and correct creation of individual (re)habilitation procedure. More precise determination of cognitive and speech profile is difficult due to integrative hypermotor behavior and attention and speech deficits. Objective. The aim of this paper was to analyze and summarize empirical data on clinical, cognitive and speech characteristics of Angelman syndrome. Methods. A systematic review of the literature published in peer-reviewed publications, from 2001 to June 5, 2021, was performed by searching electronic databases available through the service of the Serbian Library Consortium for Coordinated Acquisition – KOBSON. A “hand search” (Research Gate and Google Scholar) was also used. Results. The analyzed results of the research indicate that the presence of sensorimotor schemes that represent cognitive structures of the earliest childhood is characteristic for Angelman syndrome. Receptive speech skills are more developed than expressive ones, which usually do not exist. Supportive therapy, which includes interventions in early childhood, speech therapy and occupational programs, is very important for treatment within this clinical picture. Conclusion. It is necessary to improve the process of assessing cognitive and speech skills due to the targeted creation of an individual cognitive-speech developmental profile. It is also crucial to identify urgent areas that require treatment and in which individual and family support should be provided.

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.