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Seizure Precipitants
Get PDFIn the comprehensive management of epilepsy, both preventive pharmacological treatment and awareness of possible seizure precipitating factors are important. The true cause of seizure generation is often hard to disentangle, as triggers often are obscure and occur in concert. This dissertation examines possible seizure precipitants in patients admitted to Department of Neurology and Clinical Neurophysiology, St Olav's Hospital, Trondheim University Hospital, July 2006-February 2010, soon after a seizure.
The results from the study are presented in three papers.
In paper I, preictal caffeine intake was compared to consumption in a seizure free period as animal models and case reports have suggested caffeine to contribute to seizure development. Dietary caffeine intake 24h prior to the seizure was not different compared to habitual intake or compared to intake in a seizure free period. Therefore, caffeine does not seem to be a common seizure precipitant in a clinical setting, and patients should be accordingly advised. Non-adherence persists as a major obstacle to optimal epilepsy treatment, but its magnitude has been difficult to determine. In paper II, patients with epilepsy acutely admitted for seizures were included, and concentration/dose ratios of AEDs at admission were compared with the patiant's own steady-state, drug-fasting control values.
Non-adherence was seen in 39%, and was more common in younger patients. Many patients seem to be unaware of missed drug intake. AED serum concentrations should be part of the emergency care. Efforts to improve treatment adherence is an important part of comprehensive epilepsy management.
Sleep-time in the 24h prior to the seizure was assessed in paper III, and was found to be lower when compared to follow-up. Anxiety and depression did not correlate with differences in sleep time, but the interaction between alcohol and sleep was high. However, sleep loss stood out as an independent trigger.
This study demonstrates that epileptic seizures usually seem to be precipitated by a
combination of clinical factors
Electroclinical phenotypes in genetic epilepsy Focus on EEG aspects
Get PDFThis thesis explores the role of EEG as a biomarker for diagnosis, treatment response and prognosis in four specific genetic epilepsies. The subject is important, as the feasibility of precision therapy targeting pathophysiological mechanisms is increasing in this group of disorders.
Juvenile myoclonic epilepsy is the most common form of idiopathic generalized epilepsy. The cause is usually polygenic. The main EEG feature is generalized spike-wave and polyspike-wave complexes. Appropriate medication is usually effective, but the vulnerability to seizure provoking factors may represent an obstacle. We assessed nearly 400 EEG recordings in 40 patients with follow-up over 30 years. Prolonged ≥3 s epileptiform runs were associated with uncontrolled seizures. This pattern may represent an EEG biomarker for poor prognosis.
Juvenile neuronal ceroid lipofuscinosis (CLN3 disease) is a rare autosomal recessive and progressive neurodegenerative disorder. Pathogenic variants in the CLN3 gene lead to intracellular accumulation of lipopigments in lysosomes. Progressive visual and cognitive decline are the presenting symptoms, followed by seizures usually at age 10-11 years. Options for precision treatment are in the pipeline.
Twenty-four patients were included via the Norwegian JNCL parent association. We studied the evolution of EEG and clinical features. The seizure disorder is complex and can be classified as a combined focal and generalized epilepsy. In the late stage, heart block and dysautonomic events may be misinterpreted as seizures.
ADCK3-related mitochondrial disease is also an autosomal recessive disorder. Epilepsy and spinocerebellar ataxia may mimic the more common POLG-related disease. Variants in the ADCK3 gene cause abnormal Q10 metabolism and treatment with Q10 can be useful. In three of four identified patients, we demonstrated unusual and almost continuous spikes and spike-waves over posterior regions. We believe that this peculiar EEG pattern might represent a biomarker for this very rare type of mitochondrial disease.
Pyridoxine dependent epilepsy is an uncommon recessive genetic-metabolic epilepsy caused by a disturbed degradation of the amino acid lysine. The availability of pyridoxine is blocked. The most common cause is a variant in the ALDH7A1 gene. The classic form presents with neonatal seizures. Respiratory distress and asphyxia are common. Antiseizure medications are ineffective, but pyridoxine provides seizure control, and a lysine restriction diet can be beneficial. We identified 13 Norwegian patients, of whom five were adults, and explored the diagnostic role of EEG. An early EEG “burst suppression” is common, but not specific. Eleven patients had EEG recordings during i.v. pyridoxine administration. Clinical effect and EEG changes were often delayed, and transient worsening was seen in some. All achieved seizure control after a few days with pyridoxine treatment. We concluded that EEG during pyridoxine injection contributes little to the diagnostic assessment. The patients presented varying degrees of cognitive disability, but one adult had normal development. EEG follow-up in adulthood showed only slight abnormalities without progression.
Conclusion: Further systematic and long-term EEG studies in the rapidly growing number of epileptic disorders with genetic etiology are warranted in the search for electroclinical characteristics, which may promote identification and decisions on optimal tailored treatment
Characteristics of Focal Epilepsies among Participants in HUNT 2 and 3
No full textBakgrunn:
Det innsamlede datamaterialet fra helseundersøkelsene i Nord-Trøndelag (HUNT) gir en enestående database med helseopplysninger, kliniske målinger og biologisk materiale tilgjengelig for forskning. Som en del av HUNT-MI studien, vil det bli gjennomført genom-assosiasjonsstudier på personer identifisert med epilepsi. For at dette arbeidet skal være meningsfylt er bekreftelse av diagnosen og detaljert klassifisering nødvendig.
Mål:
Hensikten med studien var derfor å klassifisere pasientene med fokal epilepsi etter etiologi, demografi (alder/kjønn), alder ved anfallsstart, komorbiditet og behandlingsrespons.
Materiale og metode:
Alle genotypede HUNT-2 og -3 deltagere med > 2 kontakter ved nevrologiske og/eller pediatriske avdelinger registrert med en epilepsidiagnose (ICD-10: G.40.x etter 1999; ICD-9: 345.x før 1999) ved sykehusene i Trøndelag fylke ble inkludert i studien. Validering av diagnosen ble utført ved gjennomlesning av journaler og registrering av aktuell informasjon i henhold til den nyeste definisjonen presentert av “International League Against Epilepsy (ILAE)”. Epilepsikarakteristika ble detaljert ført i vårt datainnsamlingsskjema. Dataene ble videre analysert i SPSS.
Resultater:
Totalt var det 246 av 347 pasienter som hadde fokal epilepsi (70.9%). Av disse var 120 (48.8%) kvinner og 126 menn (51.2%). Strukturell etiologi ble identifisert hos 145 (58.9%) av pasientene, ikke-strukturell infeksiøs etiologi hos 2 (0.8%), kjent/antatt genetisk etiologi hos 2 (0.8%) og ukjent etiologi hos 97 (39.4%). Den vanligste etiologien var dermed strukturell, med vaskulære hendelser som den største bidragsyteren. Alder ved anfallsstart fulgte aldersfordelingen av cerebrovaskulære hendelser generelt i befolkningen. Følgelig var den største andelen av pasientene i denne gruppen > 60 år ved første epileptiske anfall. Totalt var 84 pasienter anfallsfrie de siste fem årene. Ytterligere 53 hadde vært anfallsfrie det siste året.
Konklusjon:
Epilepsi er en samlediagnose bestående av flere tilstander. Fokal epilepsi utgjør den største andelen av disse, og strukturell etiologi er vanligst. På tross av at fokal epilepsi lenge har vært betraktet som ervervet, er det nå stadig økende kunnskap om de genetiske komponentene. Etiologien forblir i mange tilfeller likevel ukjent basert på dagens undersøkelsesmetoder i klinisk praksis. Denne studien viste ingen åpenbare kliniske forskjeller mellom fokale epilepsier med og uten kjent årsak, bortsett fra tidligere anfallsstart hos de ukjente. Fremtidig klinisk og translasjonell forskning vil bli viktig i utforskningen av den store gruppen av ikke-strukturell fokal epilepsi
Psychiatric Comorbidity in Epilepsy
Get PDFEpilepsy is a disease of the brain defined by recurrent epileptic seizures with various clinical presentations. The disorder has neurobiological, cognitive, psychological, and social consequences. Many of the epilepsies are associated with comorbidities with a potential to affect the course and treatment of the disorder. Over the last couple of decades there has been increasing awareness of an association between psychiatric disorders and epilepsy. Psychiatric symptoms in epilepsy were long regarded as mere consequences of the epilepsy and its treatment. However, research has revealed a bidirectional relationship between seizures and psychiatric disorders, meaning that the presence of one increases the risk of developing the other.
This thesis comprises four studies on the relationship between epilepsy and psychiatric symptoms. Paper I and III are population-based retrospective observational studies investigating prevalence and directionality. Paper II is a case report illustrating the complexity of ictal psychiatric symptoms and Paper IV is a retrospective case-control study where clinical epilepsy predictors of psychiatric comorbidity are in focus.
In Paper I, we used diagnostic codes from the specialist health care services to compare the proportion and age and sex distribution of substance use disorders and psychotic disorders among adults with epilepsy to the population without epilepsy. Overall, 0.9% of Norwegian adults had been registered with epilepsy in somatic hospitals during 2008-2012. We found an elevated adjusted relative risk for substance use disorders, bipolar disorders, and psychoses in people with epilepsy. The prevalence of these disorders was higher in all agegroups and both sexes of people with epilepsy compared to the population without epilepsy, it was also higher when compared to patients with diabetes, another chronic disorder.
Paper II is a case report where we explored ictal psychiatric symptoms in the form of complex visual pseudo-hallucinations. The ictal symptoms ranged from simple, unilateral visual phenomena of flickering light to bilateral scenic visions of places feeling familiar. Ictal electroencephalography (EEG) findings and seizure semiology corresponded to a lesion in the posterior section of the right parahippocampal gyrus which is part of the neuronal network responsible for linking visual information with memory and spatial mapping and navigation. The findings suggest that this particular network is crucial for the semiology of experiential seizures with visual hallucinations and elements of recall.
In Paper III, we investigated the directionality of epilepsy and psychosis by using prescription data. The prevalence of epilepsy in the adult population of Norway was 0.8%, the same as for psychosis. Moreover, the prevalence of psychosis in epilepsy was 2.8% and that of epilepsy in psychosis was 3.1%. Our study confirmed a bidirectional relationship, but surprisingly, we found that a larger portion of subjects (56%) had started antipsychotic treatment prior to onset of epilepsy treatment than the other way around.
In Paper IV we aimed to study the prevalence of psychiatric comorbidity according to clinical epilepsy characteristics in a sample of 448 HUNT-participants with validated and classified epilepsy. We found that 35% had at least one psychiatric disorder. The prevalence was equal in focal and generalized epilepsy but was significantly lower in those with an unknown epilepsy type. In focal epilepsy, unknown etiology, presence of focal to bilateral tonic clonic (FTC) seizures, a younger age at epilepsy onset, and being female were characteristics associated with an increased prevalence of psychiatric comorbidity. Structural etiology and age at epilepsy onset ≥ 60 years were features accompanied by a reduced risk. Interestingly, those with epilepsy resolved at final follow-up had a slightly higher prevalence of psychiatric comorbidity compared to those with active epilepsy. The findings show that prevalence varies according to clinical characteristics of epilepsy and support a potential shared susceptibility for epilepsy and psychiatric disease.
The present studies provide clinically relevant knowledge about prevalence and risk factors of psychiatric comorbidity in people with epilepsy in Norway. Future research should further explore the multifactorial mechanisms behind this association
Epilepsy in the county of Nord-Trøndelag - Diagnostic Difficulties and Focus on Generalized Epilepsy
No full textBakgrunn:
Folkehelseundersøkelsen i Nord-Trøndelag (HUNT) er en av de største epidemiologiske studiene som er blitt gjennomført. Studien gir en unik database med helseopplysninger, kliniske målinger og biologisk materiale. For å utføre fremtidige genom-assosiasjonsstudier er diagnosevalidering og kartlegging av kliniske karakteristika nødvendig.
Målsetting:
Å finne andelen pasienter i HUNT-studien med verifisert epilepsi ved å bruke den nye epilepsiklassifikasjonen og se nærmere på feildiagnostisering og pasienter med en usikker epilepsidiagnose, og videre fokusere ytterligere på ulike aspekter ved generaliserte epilepsier i denne populasjonen.
Materiale og metode: Vi identifiserte personer fra HUNT 2- og 3 registrert med epilepsi (ICD-9: 345.x før 1999 eller ICD-10: G40.x etter 1999), med to eller flere opphold på nevrologiske og pediatriske klinikker ved sykehus i Trøndelag fylke. Vi har systematisk gjennomgått pasientene ved hjelp av medisinske journaler. Diagnosen ble validert og klassifisert i henhold til revidert klassifikasjon fra International League Against Epilepsy (2017) ved å bruke en Case Report Form (CRF). Dataene ble videre samlet i EXCEL og analysert i SPSS.
Resultater:
Totalt var det 307 (88,5%) av 347 pasienter som hadde en verifisert epilepsidiagnose. Fokal epilepsi utgjorde størsteparten (80,1%), etterfulgt av generalisert (10,1%), ukjent type (8,3%) og kombinert fokal og generalisert epilepsi (1,3%). Til sammen var det 8.1% feildiagnostiserte pasienter, og 3,5% hadde en usikker epilepsidiagnose.
Konklusjon:
Denne studien bekrefter at feildiagnostisering er et vanlig problem da flere tilstander ligner epilepsi, som oftest synkope og psykiatriske tilstander. Økt kunnskap om de vanligste imitatorene kan bidra til mindre feildiagnostisering. Vi identifiserte en liten og heterogen pasientgruppe hvor epilepsidiagnosen var ukjent. Denne gruppen bør det settes mer fokus på i fremtidige epidemiologiske studier. En relativt høy andel pasienter ble identifisert med epilepsi av ukjent type. Mulige årsaker kan være utilstrekkelig informasjon i legejournaler samt strengere krav i det nye klassifikasjonssystemet. Familieanamnesen bør få oppmerksomhet. Større kunnskap om idiopatisk generalisert epilepsi kan være nyttig i diagnostikken for å skille fokal fra generalisert epilepsi med sen debut
Characteristics of Focal Epilepsies among Participants in HUNT 2 and 3
Get PDFBakgrunn: Det innsamlede datamaterialet fra helseundersøkelsene i Nord-Trøndelag (HUNT) gir en enestående database med helseopplysninger, kliniske målinger og biologisk materiale tilgjengelig for forskning. Som en del av HUNT-MI studien, vil det bli gjennomført genom-assosiasjonsstudier på personer identifisert med epilepsi. For at dette arbeidet skal være meningsfylt er bekreftelse av diagnosen og detaljert klassifisering nødvendig.
Mål: Hensikten med studien var derfor å klassifisere pasientene med fokal epilepsi etter etiologi, demografi (alder/kjønn), alder ved anfallsstart, komorbiditet og behandlingsrespons.
Materiale og metode: Alle genotypede HUNT-2 og -3 deltagere med > 2 kontakter ved nevrologiske og/eller pediatriske avdelinger registrert med en epilepsidiagnose (ICD-10: G.40.x etter 1999; ICD-9: 345.x før 1999) ved sykehusene i Trøndelag fylke ble inkludert i studien. Validering av diagnosen ble utført ved gjennomlesning av journaler og registrering av aktuell informasjon i henhold til den nyeste definisjonen presentert av “International League Against Epilepsy (ILAE)”. Epilepsikarakteristika ble detaljert ført i vårt datainnsamlingsskjema. Dataene ble videre analysert i SPSS.
Resultater: Totalt var det 246 av 347 pasienter som hadde fokal epilepsi (70.9%). Av disse var 120 (48.8%) kvinner og 126 menn (51.2%). Strukturell etiologi ble identifisert hos 145 (58.9%) av pasientene, ikke-strukturell infeksiøs etiologi hos 2 (0.8%), kjent/antatt genetisk etiologi hos 2 (0.8%) og ukjent etiologi hos 97 (39.4%). Den vanligste etiologien var dermed strukturell, med vaskulære hendelser som den største bidragsyteren. Alder ved anfallsstart fulgte aldersfordelingen av cerebrovaskulære hendelser generelt i befolkningen. Følgelig var den største andelen av pasientene i denne gruppen > 60 år ved første epileptiske anfall. Totalt var 84 pasienter anfallsfrie de siste fem årene. Ytterligere 53 hadde vært anfallsfrie det siste året.
Konklusjon: Epilepsi er en samlediagnose bestående av flere tilstander. Fokal epilepsi utgjør den største andelen av disse, og strukturell etiologi er vanligst. På tross av at fokal epilepsi lenge har vært betraktet som ervervet, er det nå stadig økende kunnskap om de genetiske komponentene. Etiologien forblir i mange tilfeller likevel ukjent basert på dagens undersøkelsesmetoder i klinisk praksis. Denne studien viste ingen åpenbare kliniske forskjeller mellom fokale epilepsier med og uten kjent årsak, bortsett fra tidligere anfallsstart hos de ukjente. Fremtidig klinisk og translasjonell forskning vil bli viktig i utforskningen av den store gruppen av ikke-strukturell fokal epilepsi.Background: The material collected in The Nord-Trøndelag Health Study (HUNT) provides an exclusive database of questionnaire data, clinical measurements and biological samples. Whole-genome association studies will be performed in subjects identified to have epilepsy as a part of the HUNT-MI study. In order for this to be meaningful, affirmation of the diagnoses and detailed classification of the epilepsies are obligatory.
Purpose: Our objective was to classify focal epilepsies according to the revised seizure and epilepsy classifications in relation to etiological groups, demographic features (age/sex), age of seizure onset, comorbidities and treatment response.
Material and method: The HUNT research coordinator identified all genotyped HUNT-2 and 3 participants with > 2 appointments at neurological and/or pediatric clinics registered with epilepsy (ICD-10: G.40.x after 1999; ICD-9: 345.x prior to 1999) at hospitals in the county of Trøndelag. Validation of the diagnosis of epilepsy was carried out using medical record information according to current definitions presented by the International League Against Epilepsy (ILAE). Epilepsy characteristics were recorded in detail by using a Case Report Form (CRF). Data were analyzed using SPSS.
Results: In total 246 of 347 patients were identified with focal epilepsy (70.9%). There were 120 (48.8%) females and 126 males (51.2%). Structural etiology was identified in 145 (58.9%) patients, non-structural infectious etiology in 2 (0.8%), known/presumed genetic etiology in 2 (0.8%) and unknown etiology in 97 (39.4%) patients. The most common etiology was structural, with vascular events as the largest contributor. The age of seizure onset followed the general prevalence of cerebrovascular disorders with the largest proportion of patients > 60 years. A total of 84 patients were seizure free for at least five years, and an additional 53 were seizure free the past year.
Conclusion: Epilepsy is a diverse condition. Focal epilepsies account for the vast majority, and most of them have a structural etiology. Although focal epilepsies long have been considered acquired, the knowledge concerning the genetic components is increasing. A large proportion of focal epilepsies have unknown etiologies based on currently available investigational methods in routine clinical practice. This study did not reveal obvious clinical differences between focal epilepsies with and without established cause, other than earlier onset in those without. Future clinical and translational research is needed to explore the etiologies of the large and important group of non-structural focal epilepsies
Alcohol and epileptic seizures
No full textPurpose:
The aim of this study was to investigate the relationship between alcohol use and seizures in acutely hospitalized patients, both isolated seizures as well as in diagnosed epilepsy. We wished to study the extent of the problem as well as the clinical characteristics of people with alcohol-related seizures in various seizure disorders, including their drinking pattern.
Method:
In this prospective observational case cross-over study, a semi-structured interview took place after admission in 134 consecutive patients (epilepsy 92, isolated seizures 42). Alcohol use was assessed by the Alcohol Use Disorders Identification Test (AUDIT) and daily alcohol unit consumption was recorded during the six days prior to the seizure. Sleep-time was recorded for the last three dates. The Hospital Anxiety and Depression Scale (HADS) was also applied. In 30 patients with epilepsy, non-adherence was assessed by therapeutic drug monitoring (TDM) at admission compared to a routine drug concentration/dose (CD) ratio when no seizure had occurred. C/D ratio <50% at admission was defined as non-adherence.
A follow-up telephone interview (alcohol intake/sleep) covering the same weekday was performed on a seizure-free day at least four weeks later.
Results:
28% of patients had AUDIT score ≥8 (hazardous drinking), 22% in epilepsy, 43% in isolated seizures (p=0.012). Alcohol consumption, non-focal seizures and HADS anxiety subscores were increased in isolated seizures, suggesting a withdrawal mechanism. A high percentage of binge drinkers had epilepsy (61%). In the 58 epilepsy patients with social drinking (excluded hazardous drinking/binging>10 units in one day), the alcohol intake was not different prior to seizure compared to follow-up, downgrading the role of modest alcohol intake as a seizure precipitant in epilepsy. However, in 10 of the 19 patients with idiopathic generalized epilepsy (IGE), binge drinking had occurred within the last two days prior to seizure.
Sleep loss prior to the seizure was associated with hazardous dinking. Non-adherence was present in 13 of 30 patients with TDM; 8 were hazardous drinkers (75%). In the 22 with AUDIT<8, non-adherence was present in 7 (32%) (n.s.).
Conclusion:
Alcohol is a major seizure precipitant in the context of hazardous drinking and withdrawal. Occasional social drinking in people with predominantly focal epilepsy is an uncommon cause of seizure breakthrough, but binge drinking prior to seizure admissions in IGE is common. In people with epilepsy, alcohol, sleep loss and non-adherence often occur in combination prior to a seizure. Alcohol alone should not always be blamed
Characteristics of Focal Epilepsies among Participants in HUNT 2 and 3
Get PDFBakgrunn:
Det innsamlede datamaterialet fra helseundersøkelsene i Nord-Trøndelag (HUNT) gir en enestående database med helseopplysninger, kliniske målinger og biologisk materiale tilgjengelig for forskning. Som en del av HUNT-MI studien, vil det bli gjennomført genom-assosiasjonsstudier på personer identifisert med epilepsi. For at dette arbeidet skal være meningsfylt er bekreftelse av diagnosen og detaljert klassifisering nødvendig.
Mål:
Hensikten med studien var derfor å klassifisere pasientene med fokal epilepsi etter etiologi, demografi (alder/kjønn), alder ved anfallsstart, komorbiditet og behandlingsrespons.
Materiale og metode:
Alle genotypede HUNT-2 og -3 deltagere med > 2 kontakter ved nevrologiske og/eller pediatriske avdelinger registrert med en epilepsidiagnose (ICD-10: G.40.x etter 1999; ICD-9: 345.x før 1999) ved sykehusene i Trøndelag fylke ble inkludert i studien. Validering av diagnosen ble utført ved gjennomlesning av journaler og registrering av aktuell informasjon i henhold til den nyeste definisjonen presentert av “International League Against Epilepsy (ILAE)”. Epilepsikarakteristika ble detaljert ført i vårt datainnsamlingsskjema. Dataene ble videre analysert i SPSS.
Resultater:
Totalt var det 246 av 347 pasienter som hadde fokal epilepsi (70.9%). Av disse var 120 (48.8%) kvinner og 126 menn (51.2%). Strukturell etiologi ble identifisert hos 145 (58.9%) av pasientene, ikke-strukturell infeksiøs etiologi hos 2 (0.8%), kjent/antatt genetisk etiologi hos 2 (0.8%) og ukjent etiologi hos 97 (39.4%). Den vanligste etiologien var dermed strukturell, med vaskulære hendelser som den største bidragsyteren. Alder ved anfallsstart fulgte aldersfordelingen av cerebrovaskulære hendelser generelt i befolkningen. Følgelig var den største andelen av pasientene i denne gruppen > 60 år ved første epileptiske anfall. Totalt var 84 pasienter anfallsfrie de siste fem årene. Ytterligere 53 hadde vært anfallsfrie det siste året.
Konklusjon:
Epilepsi er en samlediagnose bestående av flere tilstander. Fokal epilepsi utgjør den største andelen av disse, og strukturell etiologi er vanligst. På tross av at fokal epilepsi lenge har vært betraktet som ervervet, er det nå stadig økende kunnskap om de genetiske komponentene. Etiologien forblir i mange tilfeller likevel ukjent basert på dagens undersøkelsesmetoder i klinisk praksis. Denne studien viste ingen åpenbare kliniske forskjeller mellom fokale epilepsier med og uten kjent årsak, bortsett fra tidligere anfallsstart hos de ukjente. Fremtidig klinisk og translasjonell forskning vil bli viktig i utforskningen av den store gruppen av ikke-strukturell fokal epilepsi.Background:
The material collected in The Nord-Trøndelag Health Study (HUNT) provides an exclusive database of questionnaire data, clinical measurements and biological samples. Whole-genome association studies will be performed in subjects identified to have epilepsy as a part of the HUNT-MI study. In order for this to be meaningful, affirmation of the diagnoses and detailed classification of the epilepsies are obligatory.
Purpose:
Our objective was to classify focal epilepsies according to the revised seizure and epilepsy classifications in relation to etiological groups, demographic features (age/sex), age of seizure onset, comorbidities and treatment response.
Material and method:
The HUNT research coordinator identified all genotyped HUNT-2 and 3 participants with > 2 appointments at neurological and/or pediatric clinics registered with epilepsy (ICD-10: G.40.x after 1999; ICD-9: 345.x prior to 1999) at hospitals in the county of Trøndelag. Validation of the diagnosis of epilepsy was carried out using medical record information according to current definitions presented by the International League Against Epilepsy (ILAE). Epilepsy characteristics were recorded in detail by using a Case Report Form (CRF). Data were analyzed using SPSS.
Results:
In total 246 of 347 patients were identified with focal epilepsy (70.9%). There were 120 (48.8%) females and 126 males (51.2%). Structural etiology was identified in 145 (58.9%) patients, non-structural infectious etiology in 2 (0.8%), known/presumed genetic etiology in 2 (0.8%) and unknown etiology in 97 (39.4%) patients. The most common etiology was structural, with vascular events as the largest contributor. The age of seizure onset followed the general prevalence of cerebrovascular disorders with the largest proportion of patients > 60 years. A total of 84 patients were seizure free for at least five years, and an additional 53 were seizure free the past year.
Conclusion:
Epilepsy is a diverse condition. Focal epilepsies account for the vast majority, and most of them have a structural etiology. Although focal epilepsies long have been considered acquired, the knowledge concerning the genetic components is increasing. A large proportion of focal epilepsies have unknown etiologies based on currently available investigational methods in routine clinical practice. This study did not reveal obvious clinical differences between focal epilepsies with and without established cause, other than earlier onset in those without. Future clinical and translational research is needed to explore the etiologies of the large and important group of non-structural focal epilepsies
Epilepsy in the county of Nord-Trøndelag - Diagnostic Difficulties and Focus on Generalized Epilepsy
Get PDFBakgrunn:
Folkehelseundersøkelsen i Nord-Trøndelag (HUNT) er en av de største epidemiologiske studiene som er blitt gjennomført. Studien gir en unik database med helseopplysninger, kliniske målinger og biologisk materiale. For å utføre fremtidige genom-assosiasjonsstudier er diagnosevalidering og kartlegging av kliniske karakteristika nødvendig.
Målsetting:
Å finne andelen pasienter i HUNT-studien med verifisert epilepsi ved å bruke den nye epilepsiklassifikasjonen og se nærmere på feildiagnostisering og pasienter med en usikker epilepsidiagnose, og videre fokusere ytterligere på ulike aspekter ved generaliserte epilepsier i denne populasjonen.
Materiale og metode: Vi identifiserte personer fra HUNT 2- og 3 registrert med epilepsi (ICD-9: 345.x før 1999 eller ICD-10: G40.x etter 1999), med to eller flere opphold på nevrologiske og pediatriske klinikker ved sykehus i Trøndelag fylke. Vi har systematisk gjennomgått pasientene ved hjelp av medisinske journaler. Diagnosen ble validert og klassifisert i henhold til revidert klassifikasjon fra International League Against Epilepsy (2017) ved å bruke en Case Report Form (CRF). Dataene ble videre samlet i EXCEL og analysert i SPSS.
Resultater:
Totalt var det 307 (88,5%) av 347 pasienter som hadde en verifisert epilepsidiagnose. Fokal epilepsi utgjorde størsteparten (80,1%), etterfulgt av generalisert (10,1%), ukjent type (8,3%) og kombinert fokal og generalisert epilepsi (1,3%). Til sammen var det 8.1% feildiagnostiserte pasienter, og 3,5% hadde en usikker epilepsidiagnose.
Konklusjon:
Denne studien bekrefter at feildiagnostisering er et vanlig problem da flere tilstander ligner epilepsi, som oftest synkope og psykiatriske tilstander. Økt kunnskap om de vanligste imitatorene kan bidra til mindre feildiagnostisering. Vi identifiserte en liten og heterogen pasientgruppe hvor epilepsidiagnosen var ukjent. Denne gruppen bør det settes mer fokus på i fremtidige epidemiologiske studier. En relativt høy andel pasienter ble identifisert med epilepsi av ukjent type. Mulige årsaker kan være utilstrekkelig informasjon i legejournaler samt strengere krav i det nye klassifikasjonssystemet. Familieanamnesen bør få oppmerksomhet. Større kunnskap om idiopatisk generalisert epilepsi kan være nyttig i diagnostikken for å skille fokal fra generalisert epilepsi med sen debut.Background:
The Nord-Trøndelag Health Study (HUNT) is one of the largest epidemiological health studies ever performed. The study provides an exclusive database for questionnaire data, clinical measurements, and biological samples. Validation of the diagnoses and detailed classifications of the epilepsies with mapping of clinical characteristics are mandatory to perform meaningful genotype/phenotype association in future studies.
Aims: To validate the true G.40 diagnosis in the HUNT study cohort according to the revised classification of the epilepsies and explore misdiagnosis rate and patients with an uncertain epilepsy diagnosis, and to further focus on various aspects of generalized epilepsies in this population.
Methods:
We identified subjects from the HUNT 2 and 3 study with two or more appointments at neurological and pediatric clinics recorded with epilepsy (ICD-9: 345.x prior to 1999 or ICD-10: G40.x after 1999) at Hospitals in the county of Trøndelag. We systematically reviewed the patients by reading the medical records. The diagnosis was validated and categorized according to the current classification schemes established by the International League Against Epilepsy (ILAE) by using a Care Report Form (CRF). The data was collected in EXCEL and further analyzed in SPSS.
Results:
In total, 307 (88.5%) out of 347 patients had a valid epilepsy diagnosis. Focal epilepsy accounted for the majority (80.1%), followed by generalized (10.1%), unknown type (8.3%) and combined focal and generalized epilepsy (1.3%). Altogether 8,1% patients were incorrectly diagnosed with epilepsy and 3.5% had an uncertain epilepsy diagnosis.
Conclusion:
The present study confirms that misdiagnosis is a common problem as many conditions resemble epilepsy, most commonly syncope and psychiatric conditions. Enhanced knowledge of the various imitators of epilepsy can contribute to lower misdiagnosis rates. We identified a small and heterogenous group of patients with an uncertain epilepsy validation. This patient group should be further acknowledged and investigated in other epidemiologic studies on epilepsy. A relatively high share of patients was identified with unknown type of epilepsy. This could be due to insufficient information in medical records and stricter classification criteria. A family history of epilepsy should be addressed. Enhanced knowledge on idiopathic generalized epilepsy, might be helpful to differentiate focal from adult onset generalized epilepsy
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