10 research outputs found
Napadaji posteriornog korteksa - izazovi u pedijatriji
Posterior cortex seizures have a complex semiologic presentation that is especially
challenging in the pediatric population. Therefore, using clinical presentation in localizing ictal involvement
is not sufficient in children, thus making this type of epilepsy quite under-recognized. As
most of the ictal symptoms are subjective and could well be overshadowed by symptoms arising from
adjacent cortices, primarily temporal and central ones, it is necessary not to overlook this large source
of pharmacoresistant epilepsies. The parietal lobe as part of an extensive synaptic network is a great
imitator, thus quite often producing inaccurate localization readings on scalp electroencephalography
(EEG) due to very scattered interictal discharges and uninformative ictal recordings. Using direct
cortical recordings in delineating the epileptogenic zone is helpful in some cases but even highly experienced
epileptologists may erroneously interpret some features as arising from other localizations,
especially the frontal lobe. Epilepsy surgery from the posterior quadrant is still quite rare and relatively
unsuccessful, especially in non-lesional epilepsies due to elaborate mechanisms of connectivity,
misleading semiology, and non-localizing EEG recordings, possibly due to insufficiency of parietal
cortex synchronicity. Applying the aforementioned to the pediatric age makes it perhaps the most
difficult challenge for a pediatric epileptologist.Napadaji posteriornog korteksa imaju složemu semiologiju koja je osobito izazovna u pedijatrijskoj populaciji. Upravo
zato primjena kliniÄke prezentacije u lokalizaciji iktalnog ishodiÅ”ta nije dovoljno u djece, Äime je ova vrsta epilepsije slabo
prepoznata. S obzirom na to da je veÄina iktalnih simptoma subjektivna i može biti skrivena simptomima susjednih korteksa,
primarno temporalnim i centralnim, važno je ne preskoÄiti ovaj važan izvor farmakorezistentnih epilepsija. Uz semiologiju,
parijetalni je režanj kao dio velike sinaptiÄke mreže veliki imitator i Äesto stvara netoÄnu lokalizaciju na elektroencefalogramu
(EEG) zbog velike distribucije interiktalnih izbijanja i neinformativnih iktalnih zapisa. KoriŔtenje direktnih kortikalnih zapisa
u definiciji epileptogene zone je korisno u nekim sluÄajevima, no Äak i vrlo iskusni epileptolozi mogu pogreÅ”no protumaÄiti
neke znaÄajke s ishodom iz drugih izvora, osobito frontalnog režnja. Operacije epilepsije posteriornog kvadranta su
vrlo rijetke i priliÄno neuspjeÅ”ne, osobito u ne-lezionalnim epilepsijama zbog osebujnih mehanizama povezanosti, zavaravajuÄe
semiologije i ne-lokalizirajuÄeg EEG zapisa moguÄe zbog nedovoljne sinkroniziranosti parijetalnog korteksa. Primjena
navedenog na pedijatrijsku dob Äini epilepsije ovog dijela korteksa možda najveÄim izazovom za pedijatrijske epileptologe
KarakteristiÄan fenotip u djevojÄice s Rettovim sindromom i delecijom 25 bp zbog nove mutacije u 4. eksonu (.881_905del25, nm_004992.3) gena MECP2
Rett syndrome is a pervasive developmental disorder with a variable clinical presentation, which is caused by point mutations or
large deletions/duplications in the X-linked methyl-CpG-binding protein 2 (MECP2) gene. The aim is to describe variation in the
clinical course related to the mutation identifi ed in exon 4 of the MECP2 gene. Retrospective review of data, electroencephalography
and treatment was done in a 19-year-old girl previously diagnosed with a MECP2 gene mutation. Born after an uneventful pregnancy,
the female patientās growth and psychomotor development were normal, except for delayed speech. At the age of 3 years,
tonic-clonic seizures started and at the age of 3.5 years autistic behavior was observed, followed by rapid mental deterioration, loss
of speech and motor skills, with periods of hyperventilation. At the age of 5 years, she showed occasionally āhand-washingā
movements. Extensive neuro-metabolic investigation was nondiagnostic. Genetic analysis revealed a novel 25 bp deletion mutation
in exon 4 (c.881_905del25) of the MECP2 gene. Until now, multiple epileptic seizure types, refractory to all antiepileptic polytherapy
and with normal video EEG background, have occurred daily. She is spastic and ataxic, but still able to walk slowly with a
wide based gait. In this female patient, the onset of symptoms manifested much later than encountered in typical cases of
Rett syndrome. Epilepsy with daily frequency is however drug resistant. Unexpectedly, she is still able to walk at the age of 19
years. A genotype-phenotype correlation is suspected.Rettov sindrom (RTT) pervazivni je razvojni poremeÄaj s razliÄitim kliniÄkim slikama, a uzrokovan najÄeÅ”Äe toÄkastim mutacijama ili
delecijom/duplikacijom metil-CpG-vezanog proteina 2 (MECP2) na genu X. Cilj je opisati razliÄitosti kliniÄkog tijeka bolesti koje su
vezane za naÄenu mutaciju na 4. eksonu gena MECP2. Retrospektivna analiza anamnestiÄkih podataka, electroencefalograma i
lijeÄenja kod 19-godiÅ”nje djevojke s nalazom mutacije na genu MECP2. DjevojÄica je roÄena nakon uredne trudnoÄe kao 4. dijete u
obitelji, rast i psihomotorni razvoj su bili uredni, osim zaostatka u razvoju govora. Sa 3 godine zapoÄeli su toniÄko-kloniÄki grÄevi, a
sa 3,5 godine uoÄava se autistiÄno ponaÅ”anje, nakon Äega je uslijedila mentalna deterioracija s prestankon govora, smetnjama
motorike i povremenim kratkotrajnim javljanjima hiperventilacije. Sa 5 godina povremeno su se uoÄavali pokreti āpranja rukuā.
Velikim opsegom neurometaboliÄkih pretraga nije se naÅ”ao uzrok smetnjama. GenetiÄkom analizom naÄena je delecija 25 bp kao
jedna od novih mutacija u 4. eksonu (c.881_905del25) gena MECP2. Uslijedili su razni oblici epileptiÄkih napadaja koji su bili
tvrdokorni na antiepileptiÄku terapiju, uz urednu osnovnu aktivnost na video-elektroencefalogramu. Djevojka ima poviÅ”en miÅ”iÄni
tonus, ataktiÄan hod i može samostalno hodati na Å”irokoj osnovi. U ove djevojke simptomi su poÄeli kasnije nego u tipiÄnim
sluÄajevima Rettovog sindroma. EpileptiÄki napadaji su svakodnevni i tvrdokorni na terapiju, a 19-godiÅ”nja djevojka joÅ” hoda,
a najvjerojatniji razlog je meÄusobna povezanost genotipa i fenotipa
SuoÄavanje sa stresom u djece s epilepsijom - evaluacija kognitivno-bihevioralne intervencije
A pilot study was conducted to examine the efficiency and satisfaction of cognitive behavioral therapy (CBT) intervention in youth with epilepsy regarding coping strategies. The CBT intervention was based on the main principles and empirically supported cognitive-behavioral
techniques. The intervention consists of epilepsy education, stress education, and coping skill strategies. Seventeen children and adolescents aged 9-17 diagnosed with epilepsy for at least one year, with at least average intelligence and no history of serious mental illness completed the CBT intervention during summer camp, providing data on the efficiency of and satisfaction with CBT intervention. Upon completion of the CBT intervention, study subjects achieved significantly higher scores on the following Scale of Coping with Stress subscales: Problem solving; Seeking for social support from friends; Seeking for social support from family; and Cognitive restructuring, for both measures of usage frequency and effectiveness of each subscale. The participants reported a high level of satisfaction with the CBT intervention. This study provided explanation of research limitations and recommendations for future clinical trials.U ovom istraživanju ispitivala se uÄinkovitost i zadovoljstvo kognitivno-bihevioralnom terapijom (KBT) za strategije suoÄavanja sa stresom kod djece i adolescenata s epilepsijom. Provedena intervencija KBT temelji se na osnovnim postulatima znanstveno utemeljene KBT. Intervencija se sastojala od edukativnih radionica o epilepsiji kao bolesti, stresu te o strategijama suoÄavanja sa stresom. Sveukupno 17 djece i adolescenata u dobi 9-17 godina, prosjeÄnih kognitivnih sposobnosti, s dijagnosticiranom epilepsijom najmanje godinu dana te bez komorbiditeta psihiÄkih bolesti bilo je ukljuÄeno u
intervenciju KBT tijekom ljetnog kampa. Nakon zavrÅ”etka intervencije KBT na Ljestvici suoÄavanja sa stresom za djecu i adolescente ispitanici su postigli znaÄajno bolje rezultate na sljedeÄim podljestvicama: RjeÅ”avanje problema, Traženje socijalne podrÅ”ke od prijatelja, Traženje socijalne podrÅ”ke od obitelji te Kognitivno restrukturiranje, i to za obje mjere: frekvencija i uÄinkovitost svake spomenute podljestvice. Ispitanici su potvrdili visoko zadovoljstvo provedenom kognitivno-bihevioralnom intervencijom. KonaÄno, provedeno istraživanje definiralo je ograniÄenja u provedenom istraživanju te dalo smjernice i preporuke za sliÄna buduÄa kliniÄka ispitivanja
THE IMPORTANCE OF ANTENATAL IMMUNOPROPHYLAXIS FOR PREVENTION OF HEMOLYTIC DISEASE OF THE FETUS AND NEWBORN
HemolitiÄka bolest fetusa i novoroÄenÄeta (HBFN) je posljedica majÄine aloimunizacije na eritrocitne antigene fetusa. Aloimunizacija na D antigen iz Rhesus (Rh) sustava krvnih grupa ima posebno znaÄenje buduÄi da se radi o najjaÄem eritrocitnom imunogenu. Otkako se unatrag Äetiri desetljeÄa rutinski provodi postnatalna profilaksa imunizacije davanjem anti-RhD imunoglobulina RhD negativnim ženama, drastiÄno je smanjen mortalitet zbog HBFN. UvoÄenjem antenatalne profilakse kliniÄki znaÄajna HBFN je postala izuzetno rijetka. SporadiÄni teÅ”ki oblici bolesti su uglavnom posljedica nedosljednosti u provoÄenju profilakse. U sluÄaju koji opisujemo nije prepoznat rizik imunizacije tijekom prve majÄine trudnoÄe, te je izostala antenatalna prevencija. Nakon primarne imunizacije, u drugoj je trudnoÄi s RhD pozitivnim djetetom doÅ”lo do žestokog sekundarnog imunoloÅ”kog odgovora majke i ranog razvoja teÅ”ke fetalne anemije. Intrauterine transfuzije su spasile vitalno ugroženi fetus, ali su istodobno uzrokovale snažnu eritroidnu supresiju. Anemija koja je trajala mjesecima nakon roÄenja lijeÄena je ponavljanim transfuzijama, te humanim rekombinantnim eritropoetinom. UnatoÄ teÅ”koj kliniÄkoj slici, kratkoroÄni ishod bolesti je povoljan i djeÄak zasada ima uredan
rast i razvoj. Ipak, rizici kasnih posljedica, a posebice neurorazvojnih odstupanja nalažu daljnje pomno praÄenje djeteta. Opisani sluÄaj ukazuje na trajnu aktualnost problematike Rh imunizacije u nas. ProvoÄenje antenatalne imunoprofilakse je prvi i kljuÄni korak u kvalitetnoj prevenciji HBFN.Hemolytic disease of the fetus and newborn (HDFN) is a consequence of maternal alloimmunization against fetal red blood cell antigens. Alloimmunization against D antigen from Rhesus (Rh) blood group system is particularly important because of its strong immunogenicity. During the last few decades, the introduction of RhD prophylaxis by postpartum administration of anti-D immunoglobulin to RhD negative women, now improved with antenatal prophylaxis, has led to a dramatic decrease in perinatal mortality and morbidity from HDFN. However, severe cases have not disappeared, mostly due to prophylaxis failure. In our case, inappropriate prenatal care during the first pregnancy in an RhD negative mother resulted in primary immunization. In the next pregnancy with an RhD positive child, the motherās secondary immune response was extremely strong and led to early development of severe fetal anemia. The fetus survived thanks to the treatment with intrauterine transfusions (IUT), but they caused suppression of erythropoiesis, which lasted for months after birth. The long lasting, late anemia was treated with repeated postnatal red cell transfusions and recombinant human erythropoietin (rHuEPO). Despite the severity of HDFN in our case, the short-term outcome is good. The boy has normal growth until now, but due to the possibility of an adverse long-term neurodevelopmental outcome, this case requires continuous follow up. It also reminds of the fact that RhD alloimmunization remains an actual problem in daily routine. Antenatal prophylaxis is a crucial step in quality care of those who are at a risk of HDFN
IdentiÄna mutacija povezana s razliÄitim fenotipom Friedreichove ataksije
Friedreichās ataxia is an autosomal recessive disease and the most frequent inherited ataxia. The disease is characterized by
expression of the unstable GAA trinucleotide repeat expansion located in the fi rst intron of the FXN gene on chromosome 9. Clinically,
it is presented by progressive gait and limb ataxia, absent refl exes with positive Babinski, and cardiomyopathy with no diff erence
regarding race and gender. Our patients are teenage siblings in whom analysis of DNA confi rmed both alleles with full mutation
in the FXN gene that codes for frataxin. Even though both siblings have full mutation and are both in the same age group, their
clinical presentation and course of the disease are rather diff erent. The sister has almost all typical neurologic signs of Friedreichās
ataxia with progressive course despite supportive therapy. The brother shows only hypertrophic cardiomyopathy with no neurologic
or skeletal disturbances so far. It is possible that other factors may also play an important role in the clinical presentation and
course of Friedreichās ataxia. The cases of our patients prove that it is not advisable to foresee the clinical course based solely on the
number of repeats.Friedreichova ataksija je autosomno recesivna bolest koja je najÄeÅ”Äa meÄu nasljednim ataksijama. Bolest je karakterizirana
ekspresijom nestabilne ponavljajuÄe GAA sekvence trinukleotida koja se nalazi u prvom intronu gena FXN na 9. kromosomu. KliniÄki
se najÄeÅ”Äe prikazuje progresivnom ataksijom, arefl eksijom uz pozitivan Babinski te kardiomiopatijom, bez obzira na rasu i spol. NaÅ”i
su bolesnici tinejdžeri brat i sestra, kod kojih je analiza DNA potvrdila oba alela s punom mutacijom u genu FXN koji kodira frataksin.
Iako oboje imaju punu mutaciju i oboje su u istoj dobnoj skupini, njihov kliniÄki izražaj i tijek bolesti su vrlo razliÄiti. Sestra ima gotovo
sve tipiÄne neuroloÅ”ke znakove Friedreichove ataksije, uz progresivan tijek unatoÄ potpornoj terapiji. Brat zasad pokazuje iskljuÄivo
hipertrofi Änu kardiomiopatiju bez neuroloÅ”kih ili koÅ”tanih poremeÄaja. MoguÄe je da i drugi Äimbenici imaju važnu ulogu u kliniÄkoj
prezentaciji i tijeku Friedreichove ataksije. Primjer naÅ”ih bolesnika potvrÄuje da nije preporuÄljivo predviÄati kliniÄki tijek iskljuÄivo na
broju ponavljajuÄih sekvencija
Niemann-Pickova bolest tip C: mutacije gena NPC1 i tijek bolesti
Niemann-Pick disease type C (NP-C) is a rare autosomal recessive disorder caused by mutations in the NPC1 gene in 95% of cases.
Consequently, unesterifi ed cholesterol accumulates in late endosomes/lysosomes causing extremely varied neurovisceral symptoms.
For many countries including Croatia, there are no reported NP-C cases to date, mainly because the accurate diagnosis of NP-C
requires not easily accessible biochemical and molecular-genetic laboratory tests. Therefore, with the aim to improve clinical practice
and understanding of NP-C in the region, we present the fi rst siblings with NP-C recorded in Croatia. The diagnosis was based on
histologic, biochemical and genetic tests. Namely, fi lipin staining showed accumulation of unesterifi ed cholesterol and cultured skin
fi broblasts were defi cient in esterifi cation of exogenously administered cholesterol. Electron microscopy of skin biopsy revealed the
presence of sequestrated lipids in lysosomes. Molecular analyses showed both siblings to be compound heterozygotes for two
disease-causing mutations of NPC1 protein, N1156S and Q922X. Based on comparison with previously reported N1156S homozygotes,
we propose that Q922X mutation, causing the formation of a truncated NPC1, has a more severe impact on clinical outcome.
Further, we observed pronounced diff erences in the disease course in the siblings; i.e. in the boy we observed an earlier onset and a
much faster neurologic deterioration (late infantile onset), suggesting other genetic and/or environmental factors infl uencing the
course of the disease. In contrast, the girl exhibited juvenile type of NP-C. In conclusion, when progressive neurologic symptoms
develop in late childhood and with a previous history of neonatal cholestasis, the classic late infantile or juvenile type of NP-C must
be suspected.Niemann-Pickova bolest tip C rijedak je autosomni recesivni poremeÄaj, u 95% sluÄajeva uzrokovan mutacijama gena NPC1. Kao
posljedica mutacija dolazi do nakupljanja neesterifi ciranog kolesterola u kasnim endosomima/lizosomima, Ŕto uzrokuje vrlo raznolike
neurovisceralne simptome. U mnogim zemljama, ukljuÄujuÄi Hrvatsku, do danas nema opisanih sluÄajeva ove bolesti, uglavnom
zbog toga Å”to su za postavljanje toÄne dijagnoze potrebne teÅ”ko dostupne biokemijske i molekularno-bioloÅ”ke laboratorijske
pretrage. Stoga radi poboljÅ”anja kliniÄke prakse i razumijevanja ove bolesti u regiji, opisujemo prvi sluÄaj brata i sestre oboljelih od
NP-C-a za Hrvatsku. Dijagnoza se temeljila na histoloÅ”kim, biokemijskim i genetiÄkim pretragama. Nakupljanje neesterifi ciranog
kolesterola dokazano je āFilipinā bojenjem, a nedostatna esterifi kacija izvana unijetog kolesterola dokazana je u kulturi fi broblasta.
Elektronskom mikroskopijom biopsije kože dokazane su nakupine lipida u lizosomima. Molekularna analiza je pokazala da su brat
i sestra heterozigoti, nositelji dviju mutacija gena NPC1, te je predviÄeno da proteini NPC1 nose mutacije N1156S i Q922X. Temeljem
usporedbe s podatcima iz literature o N1156S homozigotima, pretpostavljeno je da je mutacija Q922X, koja uzrokuje preuranjeni
zavrÅ”etak translacije proteina NPC1, znaÄajnije utjeÄu na kliniÄku sliku. Uz to su razlike u tijeku bolesti kod djeÄaka i djevojÄice bile vrlo
izražene. Kod djeÄaka su se prvi simptomi pojavili mnogo ranije i doÅ”lo je do bržeg neuroloÅ”kog propadanja (kasni infantilni tip
bolesti), vjerojatno zbog utjecaja drugih genetskih i/ili okoliÅ”nih Äimbenika na tijek bolesti. Nasuprot tome, djevojÄica je imala
juvenilni tip bolesti. ZakljuÄno, ako se nakon zabilježene neonatalne kolestaze u kasnom djetinjstvu pojave progresivni neuroloÅ”ki
simptomi, treba posumnjati na klasiÄni kasni infantilni ili juvenilni tip NP-C-a
Polymorphism of apolipoprotein E in children with epilepsy
DijagnostiÄka ispitivanja (laboratorijski nalazi, elektroencefalogram (EEG) i slikovne pretrage glave) trebaju dopuniti anamnestiÄke podatke i potvrditi kliniÄku sumnju na epilepsiju, meÄutim, vjerujemo da i neki drugi biomarkeri pomažu u ranom dijagnosticiranju epilepsije Å”to dovodi i do pravovremenog zapoÄimanja lijeÄenja te u konaÄnici moguÄe bolje kvalitete života. Apolipoprotein E kao biomarker sudjeluje u mnogim metaboliÄkim procesima u mozgu te obzirom na plastiÄnost mozga u djeÄjoj dobi mogao bi imati veliku ulogu kod djece s epilepsijom. Glavni ciljevi ovog istraživanja su utvrditi postoji li razlika u pojedinoj vrsti i podvrsti epilepsije ovisno o polimorfizmu gena APOE kod djeteta. Udjeli polimorfizama APOE gena u skladu su s podacima iz europskih istraživanja gdje je genotip e3/e3 podjednako rasporeÄen u djece oboljele od epilepsije kao i u opÄoj populaciji. U osoba s polimorfizmom APOE oÄekivalo bi se raniji poÄetak i teža kliniÄka slika bolesti. Drugi Äimbenici, kao Å”to su dob poÄetka napadaja, uÄestalost napadaja, utjecaj na neuromotorni razvoj i kasnije naÄin života su važniji za predviÄanje tijeka bolesti. Kod postavljanja dijagnoze i klasificiranja bolesti nije potrebno koristiti genotipizaciju APOE kod pacijenata s epilepsijom.Diagnostic examinations (laboratory findings, electroencephalogram (EEG) and neuro imaging techniques) should complete the medical history and confirm the clinical suspicion of epilepsy. However, we believe that some other biomarkers also help early diagnosis of epilepsy which enables timely initiation of treatment and finally, the possibility of better life quality. Apolipoprotein E as a biomarker takes part in many metabolic processes in the brain and, therefore, considering the plasticity of the brain in children, it could play an important role in children suffering from epilepsy. The main goal of this research is to determine whether there is a difference between particular types and sub-types of epilepsy depending on the APOE gene polymorphism in children. The shares of APOE gene polymorphisms are compliant with the data of European studies showing that the e3/e3 genotype is equally distributed in children suffering from epilepsy and general population. The earlier onset and more severe clinical picture of the disease are expected in persons with APOE polymorphism. Other factors, such as the age at seizure onset, seizure frequency, impact on neuromotor development and later on the lifestyle are more important for predicting the course of the disease. When diagnosing and classifying epilepsy it is not necessary to use the APOE genotyping
Polymorphism of apolipoprotein E in children with epilepsy
DijagnostiÄka ispitivanja (laboratorijski nalazi, elektroencefalogram (EEG) i slikovne pretrage glave) trebaju dopuniti anamnestiÄke podatke i potvrditi kliniÄku sumnju na epilepsiju, meÄutim, vjerujemo da i neki drugi biomarkeri pomažu u ranom dijagnosticiranju epilepsije Å”to dovodi i do pravovremenog zapoÄimanja lijeÄenja te u konaÄnici moguÄe bolje kvalitete života. Apolipoprotein E kao biomarker sudjeluje u mnogim metaboliÄkim procesima u mozgu te obzirom na plastiÄnost mozga u djeÄjoj dobi mogao bi imati veliku ulogu kod djece s epilepsijom. Glavni ciljevi ovog istraživanja su utvrditi postoji li razlika u pojedinoj vrsti i podvrsti epilepsije ovisno o polimorfizmu gena APOE kod djeteta. Udjeli polimorfizama APOE gena u skladu su s podacima iz europskih istraživanja gdje je genotip e3/e3 podjednako rasporeÄen u djece oboljele od epilepsije kao i u opÄoj populaciji. U osoba s polimorfizmom APOE oÄekivalo bi se raniji poÄetak i teža kliniÄka slika bolesti. Drugi Äimbenici, kao Å”to su dob poÄetka napadaja, uÄestalost napadaja, utjecaj na neuromotorni razvoj i kasnije naÄin života su važniji za predviÄanje tijeka bolesti. Kod postavljanja dijagnoze i klasificiranja bolesti nije potrebno koristiti genotipizaciju APOE kod pacijenata s epilepsijom.Diagnostic examinations (laboratory findings, electroencephalogram (EEG) and neuro imaging techniques) should complete the medical history and confirm the clinical suspicion of epilepsy. However, we believe that some other biomarkers also help early diagnosis of epilepsy which enables timely initiation of treatment and finally, the possibility of better life quality. Apolipoprotein E as a biomarker takes part in many metabolic processes in the brain and, therefore, considering the plasticity of the brain in children, it could play an important role in children suffering from epilepsy. The main goal of this research is to determine whether there is a difference between particular types and sub-types of epilepsy depending on the APOE gene polymorphism in children. The shares of APOE gene polymorphisms are compliant with the data of European studies showing that the e3/e3 genotype is equally distributed in children suffering from epilepsy and general population. The earlier onset and more severe clinical picture of the disease are expected in persons with APOE polymorphism. Other factors, such as the age at seizure onset, seizure frequency, impact on neuromotor development and later on the lifestyle are more important for predicting the course of the disease. When diagnosing and classifying epilepsy it is not necessary to use the APOE genotyping
Povezanost polimorfizma apolipoproteina E i epilepsije u djece
Apolipoprotein E (APOE) plays an important role in lipid metabolism and is a
proven risk factor for development of dementia and other neurodegenerative diseases. The aim of the
study was to determine the possible connection between particular APOE alleles, blood lipid profile
and different types of epilepsy in children. Alleles of the APOE gene, blood cholesterol (total, highdensity
lipoprotein and low-density lipoprotein (LDL) cholesterol, and triglyceride levels were analyzed
in blood samples of 111 children with epilepsy and 118 age- and sex-matched children without
epilepsy. Distribution of APOE genotypes was the same in children of both groups. Significantly increased
levels of total cholesterol and LDL cholesterol were found in control group (Z=3.49 and 3.52
respectively, p<0.01). No statistically significant difference was found between the genotypes of children
with idiopathic and symptomatic epilepsy (ĻĀ²=1.96; df=2; p>0.05). There were statistically significant
differences in the levels of total cholesterol (Z=2.09; p<0.05) and LDL cholesterol (Z=2.05;
p<0.05) according to the type of epilepsy in favor of symptomatic epilepsy. The study confirmed that
there was no connection between APOE and type of epilepsy in children and showed the children
with epilepsy to have lower total cholesterol and LDL cholesterol levels. Interestingly, this also held
true for children with idiopathic epilepsy compared to those with symptomatic condition.Apolipoprotein E (APOE) ima veliku ulogu u metabolizmu lipida i dokazan je Äimbenik rizika za razvoj demencije i
drugih neurodegenerativnih bolesti. Cilj istraživanja bio je utvrditi moguÄu povezanost pojedinih alela APOE, profila lipida
u krvi i razliÄitih tipova epilepsije u djece. Aleli APOE, kolesterol u krvi (ukupni kolesterol, lipoproteini visoke gustoÄe i
lipoproteini
niske gustoÄe (LDL)) te vrijednosti triglicerida analizirani su u uzorcima krvi kod 111 djece s epilepsijom i 118
djece podudarne dobi i spola bez epilepsije. Distribucija APOE genotipova bila je ista u djece obiju skupina. ZnaÄajno poviÅ”ene
razine ukupnog kolesterola i LDL kolesterola utvrÄene su u kontrolnoj skupini (Z=3,49 odnosno 3,52, p<0,01). Nije
pronaÄena statistiÄki znaÄajna razlika izmeÄu genotipova djece s idiopatskom i simptomatskom epilepsijom (ĻĀ²=1,96; df=2;
p>0,05). Postojale su statistiÄki znaÄajne razlike u razinama ukupnog kolesterola (Z=2,09; p<0,05) i LDL kolesterola (Z=2,05;
p<0,05) ovisno o vrsti epilepsije u korist simptomatske epilepsije. Studija je potvrdila da ne postoji povezanost izmeÄu
APOE i tipa epilepsije u djece te je pokazala da djeca s epilepsijom imaju niži ukupni kolesterol i LDL kolesterol, ali je naÄeno
da djeca koja imaju simptomatsku epilepsiju imaju veÄu koncentraciju ukupnog i LDL kolesterola u odnosu na one s
idiopatskom epilepsijom
Utility of camp for children with epilepsy: a retrospective
Cilj: Cilj ovog istraživanja bio je procijeniti dobrobiti obrazovnih i rekreacijskih programa kampiranja za djecu s epilepsijom.
Metoda: Proveden je retrospektivni pregled podataka prikupljenih od sve djece koja su pohaÄala godiÅ”nje kampove za epilepsiju u
organizaciji Hrvatske udruge za epilepsiju i Gradskog ureda za zdravstvo Grada Zagreba tijekom 8 godina. UkljuÄena su djeca u dobi
od 6 do 18 godina. Osoblje kampa ukljuÄuje djeÄje neurologe, psihologe, neuroloÅ”ke medicinske sestre i educirane volontere. Edukativne aktivnosti osmiÅ”ljene su kako bi poboljÅ”ale znanje djece o epilepsiji, važnosti uzimanja lijekova, akademskim izborima, predloženom zaposlenju i propisima koji se odnose na zakone o vožnji. O tim pitanjima raspravljalo se u skupinama ili u pojedinaÄnim
sesijama, ovisno o sluÄaju. Ostale aktivnosti ukljuÄivale su plivanje pod nadzorom, timske sportove, zabavne aktivnosti i igre, umjetnost i rukotvorine te zabavu poput diska ili filmske veÄeri.
Svaki od sudionika ispunio je tri upitnika 1. Upitnik s opÄim podacima i provjeru znanja prije kampa; 2. Upitnik o zadovoljstvu kampom i provjera znanja nakon kampa; 3. Upitnik o prilagodbi na epilepsiju u mladih.
Rezultati: Analize anketa i testova pokazuju da je samo 75% djece u kampu znalo da boluje od epilepsije. U 10% djece prijatelji i dalji
Älanovi obitelji nisu znali za epilepsiju. UsporeÄujuÄi provjeru znanja prije i nakon kampa, prosjeÄan postotak toÄno rijeÅ”enih zadataka na prvom testu je 65%, a na drugom 87%. Odgovori u upitniku o prilagodbi na život s epilepsijom pokazatelji su jake stigme kod
djece s epilepsijom.
ZakljuÄci: Glavno postignuÄe kampa bilo je da djeca steknu samopouzdanje da mogu ostvariti svoj puni potencijal u životu i da se
osjeÄaju ravnopravno sa svojim vrÅ”njacima u svakom aspektu života.Objective: The aim of this study was to evaluate the benefits of educational and recreational camping programs for children with
epilepsy.
Method: A retrospective review of data collected from all children attending annual epilepsy camps organized by the Croatian
Epilepsy Association and the Zagreb City Office for Health during 8 years was performed. Children included were between 6 and 18
years of age. The staff of the camp includes child neurologists, a psychologist, neurology nurses and trained volunteers. Educational
activities are designed to improve childrenās knowledge of epilepsy, importance of taking medication, academic choices, suggested
employment, and regulations regarding driving laws. These issues were discussed in groups or in single sessions, depending on the
case. Other activities included supervised swimming, team sports, fun activities and games, arts and crafts and entertainment such
as disco or movie night.
Each of the participants filled out three questionnaires 1. General data questionnaire and pre-camp knowledge test; 2. Camp satisfaction questionnaire and post-camp knowledge test; 3. Questionnaire on adaptation to epilepsy in young people.
Results: The analyses of surveys and tests showed that only 75% of children in camp knew that they had epilepsy. In 10% of children,
friends and distant family members did not know about epilepsy. Comparing the knowledge test before and after the camp, the
average percentage of correctly solved tasks on the first test is 65%, and on the second 87%. The answers in the questionnaire on
adaptation to life with epilepsy are indicators of strong stigma in children with epilepsy.
Conclusions: The main accomplishment of the camp was for children to gain confidence that they can reach their full potential in
life and to feel equal to their peers in every aspect of life