Title PRIDRUŽENI POREMEĆAJI U OBOLJELIH OD DRAVET SINDROMA Title (english) DISORDERS ASSOCIATED WITH DRAVET SYNDROME Author Nuša Naglič Mentor Igor Prpić (mentor)Committee member Ingrid Škarpa - Prpić (predsjednik povjerenstva)Committee member Srđan Banac (član povjerenstva)Committee member Sandro Dessardo (član povjerenstva)Granter University of Rijeka Defense date and country 2019-07-12, Croatia Scientific / art field, BIOMEDICINE AND HEALTHCARE Scientific / art field, BIOMEDICINE AND HEALTHCARE Abstract UVOD: Dravet sindrom rijedak je i težak oblik tvrdokorne epilepsije karakteriziran pojavnošću
različitih vrsta epileptičkih napadaja koji tipično počinju u prvoj godini života inače normalnog
djeteta. Karakteristično se nakon druge godine života javlja zastoj u psihomotornom razvoju i
cijeli niz komorbiditetnih teškoća: kognitivnih, ponašajnih, obrazovnih, psihosocijalnih i
psihijatrijskih, a koje mogu predstavljati za obitelj najveći teret bolesti.
CILJ: Ispitati specifične pokazatelje pridruženih poremećaja u Dravet sindromu, kako bi se
dobio uvid u najčešće pridružene poremećaje te odredio prioritet u skrbi i liječenju usklađeno
potrebama pacijenta i obitelji.
ISPITANICI I METODE: U istraživanju koje se provelo se u Referentnom centru za epilepsije
i konvulzivne bolesti razvojne dobi, Zavoda za dječju neurologiju i dječju psihijatriju Klinike
za pedijatriju KBC-a Rijeka, sudjelovalo je 19 ispitanika s Dravet sindromom. U ovu svrhu
koristio se novokreirani izvorni DAT (Dravet Asocirane Teškoće) upitnik kojim se obuhvatilo
i prikupilo podatke o pridruženim poremećajima u oboljelih od Dravet sindroma.
REZULTATI: Zastoj u psihomotornom razvoju primijećen je nakon druge godine života. 50%
oboljelih koristi jednostavan govor, 42,1% potpuno je zavisno o tuđoj pomoći, 47,4% ima neke
poteškoće u mobilnosti. Teškoće obraćanja pažnje (N=18) i impulzivnost (N=15) najčešći su
bihevioralni poremećaji. Prisutni psihijatrijski poremećaji su PAS i ADHD. Najčešće je
prisutna lakša do umjerena intelektualna onesposobljenost, dok svi imaju poteškoće u učenju.
Poremećaji koncentracije (84,2%), izvršne vještine (72,2%), najčešće su specifične kognitivne
teškoće. Prisutna je izrazita opterećenost obitelji bolešću.
ZAKLJUČAK: Potvrdila se prisutnost cijelog niza pridruženih teškoća, različitog intenziteta i
karakteristika, koje zahtijevaju sveobuhvatnu i cjelovitu medicinsku skrb oboljelih od Dravet
sindroma.
Abstract (english) INTRODUCTION: Dravet syndrome is a rare form of severe epilepsy characterized by a variety
of epileptic seizures that typically occur during the first year of life in children with no preexisting
developmental impairments. Developmental delay becomes apparent within the second
year of life and it is followed by multiple comorbid disorders: congenital, behavioural,
educational, psychosocial and psychiatric, that are a significant burden for the families.
AIM: To examine specific indicators of disorders associated with Dravet syndrome in order to
get the insight of the most common specific comorbid disorders and to prioritize care and
treatment aligned with patient and family needs.
PARTICIPANTS AND METHODS: In the research that took place in Clinical Hospital Centre
of Rijeka, the Paediatric Clinic, Division of Paediatric Neurology and Paediatric Psychiatry,
Reference Centre for Epilepsy and Convulsive Diseases of Developmental Age, participated 19
patients with Dravet syndrome diagnosis. For this purpose, DAT (Dravet Associated Disorders)
questionnaire was formed to implicate and collect data of disorders associated with Dravet
syndrome.
RESULTS: The psychomotor development is slower from the second year of life on. 50% of
participants is using simple language for communication, 42,1% are entirely dependent on
someone else's help, 47,4% have some mobility issues. Difficulties of paying attention (N=18)
and impulsiveness (N=15) are the most common behavioural disorders. Present psychiatric
disorders are autism spectrum disorder and ADHD. Cognitive disability is between mild and
moderate, with all children having educational problems. Concentration issues (84,2%) and
executive skills (72,2%) are most commonly observed specific cognitive skill disorders. In most
cases the disease is a significant burden for the familie.
CONSLUSION: The presence of numerous comorbid disorders various by its intensity and
characteristics was confirmed in this research, which require complete and comprehensive care
of patients with Dravet syndrome.
Keywords
Dravet sindrom
komorbiditeti
neuropsihijatrijske teškoće
Keywords (english)
Dravet syndrome
comorbidities
neuropsychiatric disorders
Language croatian URN:NBN urn:nbn:hr:184:451256 Study programme Title: Medicine Type of resource Text File origin Born digital Access conditions Open access Terms of use Created on 2020-01-13 17:46:50
