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Epidemiological and Clinical Study of Rett Syndrome in population of Serbia

dc.contributor.advisorĐurić, Milena
dc.contributor.otherKisić Tepavčević, Darija
dc.contributor.otherPekmezović, Tatjana
dc.contributor.otherMinić, Predrag
dc.contributor.otherObradović, Slobodan
dc.creatorSarajlija, Adrijan
dc.date.accessioned2016-01-05T12:07:10Z
dc.date.available2016-01-05T12:07:10Z
dc.date.available2020-07-03T08:54:37Z
dc.date.issued2014-05-29
dc.identifier.urihttp://nardus.mpn.gov.rs/handle/123456789/2473
dc.identifier.urihttp://eteze.bg.ac.rs/application/showtheses?thesesId=1930
dc.identifier.urihttps://fedorabg.bg.ac.rs/fedora/get/o:9655/bdef:Content/download
dc.identifier.urihttp://vbs.rs/scripts/cobiss?command=DISPLAY&base=70036&RID=46731279
dc.description.abstractRetov sindrom (RTT) je teţak neurorazvojni poremećaj koji se uglavnom susreće kod osoba ţenskog pola. U različitim delovima sveta RTT ima prevalenciju od 0,4-2,23:10000 devojčica. Kod većine bolesnika nastaje usled mutacija MECP2 gena. Ciljevi rada: ispitavanje epidemioloških i kliničkih karakteristika RTT u populaciji Srbije; ispitivanje genotipsko-fenotipske korelacije u našoj sredini, te prognostičkog značaja odabranih demografskih, kliničkih i genetičkih varijabli; ispitivanje depresivnosti i kvaliteta ţivota majki koje se staraju o deci sa RTT. Materijal i metode: Studija je obuhvatila 102 bolesnice kod kojih je RTT dijagnostikovan izmeĎu 1987. i 2011. godine. Za utvrĎivanje epidemioloških parametara (incidencije i prevalencije) korišćeni su podaci o vitalnoj statistici Republičkog zavoda za statistiku Srbije. Korišćena je medicinska dokumentacija Instituta za zdravstvenu zaštitu majke i deteta Srbije i rezultati molekularnih analiza učinjenih u laboratoriji Biološkog fakulteta u Beogradu. Za analizu rezultata korišćene su deskriptivne i analitičke statističke metode. Rezultati: Incidencija RTT u Srbiji iznosi 0,586:10000 ţivoroĎene ţenske dece. Većina bolesnica (86%) ima klasični oblik RTT. Najčešće mutacije u MECP2 genu u populaciji bolesnica sa RTT u Srbiji su T158M, R255X i R168X. Epilepsija je prisutna kod 70,5% obolelih u ispitivanoj grupi. Prema rezultatima Kaplan-Meierove funkcije preţivljavanja, bolesnice sa RTT u Srbiji imaju veći rizik za rani smrtni ishod nego što pokazuju studije iz razvijenih sredina. Najčešći uzrok smrti ovih bolesnica u Srbiji bila je pneumonija. Klinički skor teţine bolesti (Clinical Severity Score, CSS) je bio najsnaţniji prediktor smrtnog ishoda kod RTT. Pokazana je visoka prevalencija teške depresije od 30,6% meĎu majkama koje se staraju o deci sa RTT. Zaključak: Incidencija RTT u Srbiji odgovara nalazima velikih studija iz drugih zemalja. Postoji genotipsko-fenotipska korelacija za više kliničkih aspekata RTT. PotvrĎena je vrednost skora CSS u proceni teţine stanja i predikciji smrtnog ishoda. Neophodno je planirati psihosocijalne interventne mere u porodicama obolelih zbog visoke prevalencije depresije meĎu majkama dece sa RTT.sr
dc.description.abstractIntroduction: Rett Syndrome (RTT) is severe neurodevelopmental disorder which mainly affects females. Prevalence of RTT ranges from 0,4-2,23:10000 girls in different populations worldwide. Majority of cases are caused by mutations in MECP2 gene. Objectives: investigation of epidemiological and clinical features of RTT in population of Serbia; investigation of genotype-phenotype correlation and evaluation of prognostic value of selected demographic, clinical and genetic factors; investigation of depression and health-related quality of life in mothers giving care to children with RTT. Matherial and methods: Study included 102 female patients with RTT diagnosed between 1987. and 2011. Estimation of epidemiological parameters (incidence i prevalence) was based on vital statistics provided by Statistical Office of the Republic of Serbia. Medical documentation of Mother and Child Health Institute of Serbia was used, as well as genetic diagnosis reports from Biological Faculty in Belgrade. Data analysis included descriptive and analytical statistical methods. Results: Incidence of RTT in Serbia is estimated at 0,586:10000 live female births. Majority of patients (86%) have classical type of RTT. Most common mutations in Serbian population with RTT were T158M, R255X and R168X. Epilepsy was present in 70,5% of our group. According to Kaplan-Meier survival analysis, Serbian RTT patients had higher risk for earlier mortality than shown in studies from developed countries. Pneumonia was the most frequent cause of death in our RTT group. Clinical Severity Score (CSS) was the strongest single predictor of lethal outcome in RTT patients. High prevalence of severe depression (30,6%) was noted in mothers giving care to children with RTT. Conclusion: Incidence of RTT in Serbia corresponds to findings of major epidemiological studies. The genotype-phenotype correlation is present regarding certain clinical aspects of RTT. Value of CSS in evaluating severity of the RTT and predicting fatal outcome was reconfirmed. There is a necessity of psychosocial interventional measures directed at families with RTT children due to high prevalence of depression in care giving mothers.en
dc.formatapplication/pdf
dc.languagesr
dc.publisherУниверзитет у Београду, Медицински факултетsr
dc.rightsopenAccessen
dc.sourceУниверзитет у Београдуsr
dc.subjectRetov sindromsr
dc.subjectRett syndromeen
dc.subjectincidencijasr
dc.subjectgenotipsko-fenotipska korelacijasr
dc.subjectincidenceen
dc.subjectgenotype-phenotype correlationen
dc.titleEpidemiološko-klinička studija Retovog sindroma u populaciji Srbijesr
dc.titleEpidemiological and Clinical Study of Rett Syndrome in population of Serbiaen
dc.typedoctoralThesis
dc.rights.licenseBY-NC-ND
dcterms.abstractЂурић, Милена; Кисић Тепавчевић, Дарија; Пекмезовић, Татјана; Минић, Предраг; Обрадовић, Слободан; Сарајлија, Aдријан; Епидемиолошко-клиничка студија Ретовог синдрома у популацији Србије; Епидемиолошко-клиничка студија Ретовог синдрома у популацији Србије;
dc.identifier.fulltexthttp://nardus.mpn.gov.rs/bitstream/id/11246/Disertacija.pdf


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