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 kliničke prezentacije u lokalizaciji iktalnog ishodišta nije dovoljno u djece, čime je ova vrsta epilepsije slabo prepoznata. S obzirom na to da je većina iktalnih simptoma subjektivna i može biti skrivena simptomima susjednih korteksa, primarno temporalnim i centralnim, važno je ne preskočiti ovaj važan izvor farmakorezistentnih epilepsija. Uz semiologiju, parijetalni je režanj kao dio velike sinaptičke mreže veliki imitator i često stvara netočnu lokalizaciju na elektroencefalogramu (EEG) zbog velike distribucije interiktalnih izbijanja i neinformativnih iktalnih zapisa. Korištenje direktnih kortikalnih zapisa u definiciji epileptogene zone je korisno u nekim slučajevima, no čak i vrlo iskusni epileptolozi mogu pogrešno protumačiti neke značajke s ishodom iz drugih izvora, osobito frontalnog režnja. Operacije epilepsije posteriornog kvadranta su vrlo rijetke i prilično neuspješne, osobito u ne-lezionalnim epilepsijama zbog osebujnih mehanizama povezanosti, zavaravajuće semiologije i ne-lokalizirajućeg EEG zapisa moguće zbog nedovoljne sinkroniziranosti parijetalnog korteksa. Primjena navedenog na pedijatrijsku dob čini epilepsije ovog dijela korteksa možda najvećim izazovom za pedijatrijske epileptologe

Karakterističan fenotip u djevojčice 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 patient’s 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 „hand-washing“ 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 poremećaj s različitim kliničkim slikama, a uzrokovan najčešće točkastim mutacijama ili delecijom/duplikacijom metil-CpG-vezanog proteina 2 (MECP2) na genu X. Cilj je opisati različitosti kliničkog tijeka bolesti koje su vezane za nađenu mutaciju na 4. eksonu gena MECP2. Retrospektivna analiza anamnestičkih podataka, electroencefalograma i liječenja kod 19-godišnje djevojke s nalazom mutacije na genu MECP2. Djevojčica je rođena nakon uredne trudnoće kao 4. dijete u obitelji, rast i psihomotorni razvoj su bili uredni, osim zaostatka u razvoju govora. Sa 3 godine započeli su toničko-klonički grčevi, a sa 3,5 godine uočava se autistično ponašanje, nakon čega je uslijedila mentalna deterioracija s prestankon govora, smetnjama motorike i povremenim kratkotrajnim javljanjima hiperventilacije. Sa 5 godina povremeno su se uočavali pokreti „pranja ruku“. Velikim opsegom neurometaboličkih pretraga nije se našao uzrok smetnjama. Genetičkom analizom nađena je delecija 25 bp kao jedna od novih mutacija u 4. eksonu (c.881_905del25) gena MECP2. Uslijedili su razni oblici epileptičkih napadaja koji su bili tvrdokorni na antiepileptičku terapiju, uz urednu osnovnu aktivnost na video-elektroencefalogramu. Djevojka ima povišen mišićni tonus, ataktičan hod i može samostalno hodati na širokoj osnovi. U ove djevojke simptomi su počeli kasnije nego u tipičnim slučajevima Rettovog sindroma. Epileptički napadaji su svakodnevni i tvrdokorni na terapiju, a 19-godišnja djevojka još hoda, a najvjerojatniji razlog je međusobna povezanost genotipa i fenotipa

Suočavanje 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 učinkovitost i zadovoljstvo kognitivno-bihevioralnom terapijom (KBT) za strategije suočavanja 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 suočavanja sa stresom. Sveukupno 17 djece i adolescenata u dobi 9-17 godina, prosječnih kognitivnih sposobnosti, s dijagnosticiranom epilepsijom najmanje godinu dana te bez komorbiditeta psihičkih bolesti bilo je uključeno u intervenciju KBT tijekom ljetnog kampa. Nakon završetka intervencije KBT na Ljestvici suočavanja sa stresom za djecu i adolescente ispitanici su postigli značajno bolje rezultate na sljedećim podljestvicama: Rješavanje problema, Traženje socijalne podrške od prijatelja, Traženje socijalne podrške od obitelji te Kognitivno restrukturiranje, i to za obje mjere: frekvencija i učinkovitost svake spomenute podljestvice. Ispitanici su potvrdili visoko zadovoljstvo provedenom kognitivno-bihevioralnom intervencijom. Konačno, provedeno istraživanje definiralo je ograničenja u provedenom istraživanju te dalo smjernice i preporuke za slična buduća klinička ispitivanja

THE IMPORTANCE OF ANTENATAL IMMUNOPROPHYLAXIS FOR PREVENTION OF HEMOLYTIC DISEASE OF THE FETUS AND NEWBORN

Hemolitička bolest fetusa i novorođenčeta (HBFN) je posljedica majčine aloimunizacije na eritrocitne antigene fetusa. Aloimunizacija na D antigen iz Rhesus (Rh) sustava krvnih grupa ima posebno značenje budući da se radi o najjačem eritrocitnom imunogenu. Otkako se unatrag četiri desetljeća rutinski provodi postnatalna profilaksa imunizacije davanjem anti-RhD imunoglobulina RhD negativnim ženama, drastično je smanjen mortalitet zbog HBFN. Uvođenjem antenatalne profilakse klinički značajna HBFN je postala izuzetno rijetka. Sporadični teški oblici bolesti su uglavnom posljedica nedosljednosti u provođenju profilakse. U slučaju koji opisujemo nije prepoznat rizik imunizacije tijekom prve majčine trudnoće, te je izostala antenatalna prevencija. Nakon primarne imunizacije, u drugoj je trudnoći s RhD pozitivnim djetetom došlo do žestokog sekundarnog imunološkog odgovora majke i ranog razvoja teške fetalne anemije. Intrauterine transfuzije su spasile vitalno ugroženi fetus, ali su istodobno uzrokovale snažnu eritroidnu supresiju. Anemija koja je trajala mjesecima nakon rođenja liječena je ponavljanim transfuzijama, te humanim rekombinantnim eritropoetinom. Unatoč teškoj kliničkoj slici, kratkoročni ishod bolesti je povoljan i dječak zasada ima uredan rast i razvoj. Ipak, rizici kasnih posljedica, a posebice neurorazvojnih odstupanja nalažu daljnje pomno praćenje djeteta. Opisani slučaj ukazuje na trajnu aktualnost problematike Rh imunizacije u nas. Provođenje antenatalne imunoprofilakse je prvi i ključni 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 mother’s 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

Identična mutacija povezana s različitim fenotipom Friedreichove ataksije

Friedreich’s 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 Friedreich’s 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 Friedreich’s 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 najčešća među nasljednim ataksijama. Bolest je karakterizirana ekspresijom nestabilne ponavljajuće GAA sekvence trinukleotida koja se nalazi u prvom intronu gena FXN na 9. kromosomu. Klinički se najčešće prikazuje progresivnom ataksijom, arefl eksijom uz pozitivan Babinski te kardiomiopatijom, bez obzira na rasu i spol. Naši 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 klinički izražaj i tijek bolesti su vrlo različiti. Sestra ima gotovo sve tipične neurološke znakove Friedreichove ataksije, uz progresivan tijek unatoč potpornoj terapiji. Brat zasad pokazuje isključivo hipertrofi čnu kardiomiopatiju bez neuroloških ili koštanih poremećaja. Moguće je da i drugi čimbenici imaju važnu ulogu u kliničkoj prezentaciji i tijeku Friedreichove ataksije. Primjer naših bolesnika potvrđuje da nije preporučljivo predviđati klinički tijek isključivo na broju ponavljajućih 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 poremećaj, u 95% slučajeva uzrokovan mutacijama gena NPC1. Kao posljedica mutacija dolazi do nakupljanja neesterifi ciranog kolesterola u kasnim endosomima/lizosomima, što uzrokuje vrlo raznolike neurovisceralne simptome. U mnogim zemljama, uključujući Hrvatsku, do danas nema opisanih slučajeva ove bolesti, uglavnom zbog toga što su za postavljanje točne dijagnoze potrebne teško dostupne biokemijske i molekularno-biološke laboratorijske pretrage. Stoga radi poboljšanja kliničke prakse i razumijevanja ove bolesti u regiji, opisujemo prvi slučaj brata i sestre oboljelih od NP-C-a za Hrvatsku. Dijagnoza se temeljila na histološkim, biokemijskim i genetičkim pretragama. Nakupljanje neesterifi ciranog kolesterola dokazano je „Filipin” 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 predviđeno 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 završetak translacije proteina NPC1, značajnije utječu na kliničku sliku. Uz to su razlike u tijeku bolesti kod dječaka i djevojčice bile vrlo izražene. Kod dječaka su se prvi simptomi pojavili mnogo ranije i došlo je do bržeg neurološkog propadanja (kasni infantilni tip bolesti), vjerojatno zbog utjecaja drugih genetskih i/ili okolišnih čimbenika na tijek bolesti. Nasuprot tome, djevojčica je imala juvenilni tip bolesti. Zaključno, ako se nakon zabilježene neonatalne kolestaze u kasnom djetinjstvu pojave progresivni neurološki simptomi, treba posumnjati na klasični kasni infantilni ili juvenilni tip NP-C-a

Polymorphism of apolipoprotein E in children with epilepsy

Dijagnostička ispitivanja (laboratorijski nalazi, elektroencefalogram (EEG) i slikovne pretrage glave) trebaju dopuniti anamnestičke podatke i potvrditi kliničku sumnju na epilepsiju, međutim, vjerujemo da i neki drugi biomarkeri pomažu u ranom dijagnosticiranju epilepsije što dovodi i do pravovremenog započimanja liječenja te u konačnici moguće bolje kvalitete života. Apolipoprotein E kao biomarker sudjeluje u mnogim metaboličkim procesima u mozgu te obzirom na plastičnost mozga u dječjoj 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 raspoređen u djece oboljele od epilepsije kao i u općoj populaciji. U osoba s polimorfizmom APOE očekivalo bi se raniji početak i teža klinička slika bolesti. Drugi čimbenici, kao što su dob početka napadaja, učestalost napadaja, utjecaj na neuromotorni razvoj i kasnije način života su važniji za predviđanje 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

Dijagnostička ispitivanja (laboratorijski nalazi, elektroencefalogram (EEG) i slikovne pretrage glave) trebaju dopuniti anamnestičke podatke i potvrditi kliničku sumnju na epilepsiju, međutim, vjerujemo da i neki drugi biomarkeri pomažu u ranom dijagnosticiranju epilepsije što dovodi i do pravovremenog započimanja liječenja te u konačnici moguće bolje kvalitete života. Apolipoprotein E kao biomarker sudjeluje u mnogim metaboličkim procesima u mozgu te obzirom na plastičnost mozga u dječjoj 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 raspoređen u djece oboljele od epilepsije kao i u općoj populaciji. U osoba s polimorfizmom APOE očekivalo bi se raniji početak i teža klinička slika bolesti. Drugi čimbenici, kao što su dob početka napadaja, učestalost napadaja, utjecaj na neuromotorni razvoj i kasnije način života su važniji za predviđanje 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 (χ²=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 čimbenik rizika za razvoj demencije i drugih neurodegenerativnih bolesti. Cilj istraživanja bio je utvrditi moguću povezanost pojedinih alela APOE, profila lipida u krvi i različitih tipova epilepsije u djece. Aleli APOE, kolesterol u krvi (ukupni kolesterol, lipoproteini visoke gustoće i lipoproteini niske gustoće (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. Značajno povišene razine ukupnog kolesterola i LDL kolesterola utvrđene su u kontrolnoj skupini (Z=3,49 odnosno 3,52, p<0,01). Nije pronađena statistički značajna razlika između genotipova djece s idiopatskom i simptomatskom epilepsijom (χ²=1,96; df=2; p>0,05). Postojale su statistički značajne 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 između APOE i tipa epilepsije u djece te je pokazala da djeca s epilepsijom imaju niži ukupni kolesterol i LDL kolesterol, ali je nađeno da djeca koja imaju simptomatsku epilepsiju imaju veću 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 pohađala godišnje kampove za epilepsiju u organizaciji Hrvatske udruge za epilepsiju i Gradskog ureda za zdravstvo Grada Zagreba tijekom 8 godina. Uključena su djeca u dobi od 6 do 18 godina. Osoblje kampa uključuje dječje neurologe, psihologe, neurološke medicinske sestre i educirane volontere. Edukativne aktivnosti osmišljene su kako bi poboljšale 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 pojedinačnim sesijama, ovisno o slučaju. Ostale aktivnosti uključivale su plivanje pod nadzorom, timske sportove, zabavne aktivnosti i igre, umjetnost i rukotvorine te zabavu poput diska ili filmske večeri. Svaki od sudionika ispunio je tri upitnika 1. Upitnik s općim 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 članovi obitelji nisu znali za epilepsiju. Uspoređujući provjeru znanja prije i nakon kampa, prosječan postotak točno riješenih 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. Zaključci: Glavno postignuće kampa bilo je da djeca steknu samopouzdanje da mogu ostvariti svoj puni potencijal u životu i da se osjećaju ravnopravno sa svojim vršnjacima 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 children’s 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