juvenile myoclonic epilepsy life expectancy
Lafora Disease. Childhood absence epilepsy appears to have a higher rate of remission compared to juvenile absence epilepsy. They happen slightly more often in girls than boys. The small number of studies available indicates that in JME <20% achieve remission without treatment suggesting caution when AED withdrawal is contemplated. We exist to improve the quality of life and provide support for families. Although there were no comparisons with a reference group, no relationship was found between seizure control and social outcomes (Camfield & Camfield, 2009). In prognosis studies, the predictors could be defined in the form of a triangle of interacting causes consisting of environmental factors (e.g., socioeconomic conditions), host factors (e.g., demographics, psychosocial), and disease factors (e.g., pathophysiology; Hemingway, 2006; Fig. It is caused due to a mutation in the cystatin B gene (CSTB). (1997) compared psychosocial outcomes between young adults diagnosed with typical absence epilepsy and juvenile rheumatoid arthritis. Doose syndrome is a rare form of early childhood epilepsy with no known cause or cure. (1995) used more strict criteria. Study design is likely to have an impact on the results. Whether this phenomenon represents true evolution or merely a subset of the phenotypic spectrum is a matter of interpretation depending on the diagnostic criteria. On the contrary, most patients with CAE, particularly when strict diagnostic criteria are employed, enter remission by puberty. Inability to standardize methodology is a major drawback in retrospective studies. Mother has Juvenile Myoclonic Epilepsy. In the literature, some epidemiologic studies analyze the prognosis of IGE as a group, whereas a few focus on different IGE syndromes. The possible subsyndromes of JME, its genetic background, and its pathophysiological and neuroimaging correlates should be further investigated. Multivariate model would be more appropriate for defining predictors when multiple factors are involved. Prognosis studies in JAE are scarce. Commission on Classification and Terminology of the International League Against Epilepsy, Epilepsy with impulsive petit mal (juvenile myoclonic epilepsy), Evaluating the use of prolonged video‐EEG monitoring to assess future seizure risk and fitness to drive, Idiopathic generalized epilepsies: a follow‐up study in a single‐center, Juvenile myoclonic epilepsy: clinical characteristics, treatment and prognosis in a Norwegian population of patients, Users’ guides to the medical literature. However, only the latter was a prospective study. Both cohorts are drawn either from the community, primary care, or hospitals ranging from secondary care to tertiary centers. It is a lifelong condition with tendency of improving later in life. Most often generalized tonic–clonic seizures occur after the onset of absence seizures (Panayiotopoulos, 2005), hence the length of follow‐up is important in this respect. Seizures may lessen in adulthood, but medicine may be needed for life. Sixty‐seven percent of the total cohort achieved terminal remission at the end of the mean follow‐up of 37 years (Sillanpaa & Schmidt, 2006). (2010) used 3‐month remission, whereas the other two studies analyzed 1‐year remission. The reported remission rate of IGE ranges from 64–82% (Mohanraj & Brodie, 2007; Kharazmi et al., 2010; Szaflarski et al., 2010). Published by Elsevier Inc. All rights reserved. As shown earlier, comparisons are difficult due to heterogeneity of studies. JME is defined as an epilepsy syndrome appearing around the time of puberty with bilateral myoclonic jerks predominantly in the arms, usually occurring shortly after awakening. The length of follow‐up could affect the results. This aspect becomes relevant in IGE, as it is predominantly a childhood‐onset condition. The syndrome of PME consists of myoclonic seizures, tonic–clonic seizures, and progressive neurologic dysfunction, particularly ataxia and dementia. How cases, predictors, and outcomes are defined will affect the results. However, in general, studies demonstrate that the majority of patients with epilepsy, particularly with childhood epilepsy, enter long‐term remission. ► A resistant course seen in 1/6 of JME patients is not fully explained. People with this form of epilepsy often go on to have more severe seizures, known as grand mal seizures, in adulthood.These seizures are longer, cause the person to stridden and fall to the ground, and for the limbs jerk in strong, rhythmic movements. On the contrary, EEG features, generalized tonic–clonic seizures, or family history of epilepsy did not influence the final outcome in a prospective study (Callenbach et al., 2009). Among different studies, predictors of poor outcome include history of febrile seizures (Mohanraj & Brodie, 2007), age of onset <5 years, “atypical” presentation defined as atypical absences, myoclonic epilepsies, generalized tonic–clonic seizures with onset <3 and >20 years (Nicolson et al., 2004), and EEG asymmetries (focal slowing, focal epileptiform discharges, asymmetric generalized spike‐wave discharges; Szaflarski et al., 2010). The sample consisted of both idiopathic and cryptogenic epilepsies. Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a group of conditions called the POLG-related disorders.The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. With conflicting data, no clear recommendations can be made with regard to the use of EEG as a predictor of prognosis. This could arise at different levels as highlighted below. We exist to improve the quality of life and provide support for families. Trinka et al. Attrition and the length of follow‐up will also influence the final outcome (MacDonald, 2001). Both univariate and multivariate analyses have been used with different outcomes. One‐year terminal remission was achieved by 76%. The seizure is sometimes associated with repetitive, purposeless movements of the mouth or eyes (call… In a retrospective study, the presence of structural brain abnormalities on neuroimaging was not found to influence the seizure control (Gelisse et al., 2000). While the following are classic symptoms of all types of myoclonic epilepsy, there are additional ones related to specific forms and causes. 1). The signs and symptoms of juvenile myoclonic epilepsy are:. (2005) demonstrated that measures of learning, memory span, attention, and behavior were worse among children diagnosed with epilepsy compared to health controls. Among the studies the proportion with generalized tonic–clonic seizures ranges from 47–95% (Loiseau et al., 1995; Bartolomei et al., 1997; Trinka et al., 2004; Tovia et al., 2006; Aiguabella Macau et al., 2011). Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). Most studies have reported the development of myoclonus (Wirrell et al., 1996; Trinka et al., 2004; Grosso et al., 2005), and generalized tonic–clonic seizures (Trinka et al., 2004; Grosso et al., 2005) as predictors of bad prognosis. Professor Cook has received speaker honoraria from UCB Pharma and Sanofi Australia and travel honoraria from UCB Pharma and SciGen. Dr. Nishtha Jain Senior Resident Department of Neurology GMC, Kota. This condition begins in childhood or adolescence, usually between ages 12 and 18, and lasts into adulthood. The risk of relapse of Juvenile myoclonic epilepsy is great if the anticonvulsants are stopped. These studies need to look beyond seizure remission at the emerging psychosocial, cognitive, and behavioral aspects of the condition, both as prognostic outcomes and predictors to guide management. Predictors are not well delineated among the published studies. Intractability was defined as no seizure freedom >3 months on treatment during a minimum of 1 year observation. Although the sample size was large (222), there was case ascertainment bias, as the patients were selected from a large number of affected families and followed‐up in specialist clinics. None developed intractable epilepsy. Lafora Disease. Sometimes a wolf in sheeps’ clothing, Prognostic significance of failure of the initial antiepileptic drug in children with absence epilepsy, Incidence of epileptic syndromes in Rochester, Minnesota: 1980–1984, https://doi.org/10.1111/j.1528-1167.2012.03723.x, Cohort: Incident vs. new onset vs. prevalent cases, Evolution of definitions: Classification systems, diagnostic criteria, operational groups, inclusion and exclusion criteria for research purposes, Mortality rate, case fatality rate, standardized mortality ratio, proportionate mortality ratio, Remission, relapse, intractability, evolution into a different syndrome, injuries, cognition, behavior, Quality of life, functional status, symptoms, Sickness leave, employment, educational status, disability allowance, driving, GSWD frequency/duration/amplitude, EEG seizure, Typical GSWD, atypical (PS, abnormal BG, irregular GSWD, “lead‐in,” fixation‐off, BG, duration of GSWD, PD, POS, FA, irregular GSWD, Regularity of GSWD, PD, PS, absence seizure on EEG, Focal ED, lack of PS, ED on neuropsychological activation, Typical vs. atypical (BG slow, FA, irregular GSWD). Idiopathic and cryptogenic epilepsy had a significantly higher rate of remission (92% and 68%, respectively) as compared to remote symptomatic epilepsy (45%; Sillanpaa et al., 1998). We exist to improve the quality of life and provide support for families. … The probability of achieving remission at 10 years after diagnosis without medication was higher in the idiopathic group compared to the secondary group (36% vs. 20%). Idiopathic generalized tonic‐clonic epilepsy and photosensitivity: a long‐term follow‐up study, Polyspike and waves do not predict generalized tonic‐clonic seizures in childhood absence epilepsy, Natural history of absence epilepsy in children, Long‐term prognosis of typical childhood absence epilepsy: remission or progression to juvenile myoclonic epilepsy, Long‐term psychosocial outcome in typical absence epilepsy. Further dissections of JME into subsyndromes appear to have a considerable impact on prognosis. Subsequently, the researchers published the analysis of the incident cohort (Sillanpaa & Schmidt, 2006, 2009). In a small population‐based study of JME, only 69% were employed and 74% reported at least one major unfavorable social outcome. Comparison of different studies on epilepsy prognosis. As a general rule, up to 80% of patients with epilepsy get to have the disease well controlled and may go months or years between seizures. Remission of CAE (82%) and JAE (75%) was higher than JME (57.1%). This resistant course is not fully explained, though there are many suggested factors. Cases were recruited from most, but not all, community clinics, academic centers, and private practices in the community. Another prospective, population‐based study involving newly diagnosed epilepsy patients, the National General Practice Study of Epilepsy from the United Kingdom used a classification of etiology and seizure types along the lines adopted by the Rochester Project (Sander et al., 1990). Other outcomes such as quality of life, social, cognitive, and behavioral outcomes have received relatively less emphasis. Available data, although scant, indicate that in JAE, similar to CAE, occurrence of generalized tonic–clonic seizures and myoclonus predicts poor outcome in terms of seizure remission. The pyramid (A) represents different levels of epilepsy care and the geometry of the pyramid differs by health care system. The Nova Scotia cohort is a population‐based, incident cohort of childhood epilepsy studied prospectively. Prognosis of idiopathic generalized epilepsy spanning from the biologic onset to the final outcome. The life expectancy of people who suffer from epilepsy depends on the severity of each case and which is the underlying cause of the seizures. ► Myoclonic seizures subside in the fourth decade in JME. The diagnostic accuracy, definitions, inclusion, and exclusion criteria as well as classifications are likely to affect the outcome of prognosis studies. Although life expectancy is shortened, it is extremely variable. Other poor prognostic features include absence status, late onset (>8 years), family history of generalized seizures, background slowing of EEG (Wirrell et al., 1996), and atypical EEG features (irregular discharges, “lead‐in” discharges; Grosso et al., 2005). Juvenile absence epilepsy and juvenile myoclonic epilepsy are the main epileptic syndromes in adolescence with excellent prognosis. Martinez‐Juarez et al. Multivariate analysis has revealed etiology, type of seizure, response to AEDs, and initial frequency of seizures as significant predictors of remission. Table S1. These often happen shortly as, or shortly after, the child or young person wakes up. Hence, comparison of incident with prevalent cohorts can yield misleading conclusions. Those with absence epilepsy recorded significantly worse outcomes in terms of academic/social achievements and behavioral aspects. Studying prognosis helps us understand the course and outcome, as well as the public health impact of the condition (Hesdorfter & Logroscino, 2003). On follow up, significantly more patients evolved to develop JME among JAE (19%) compared to CAE (5%; Trinka et al., 2004). It has been recognized that children with epilepsy have poor social, cognitive, and behavioral outcomes. The group 2 recorded higher rate of terminal remission defined as ≥1 year seizure freedom off AEDs (82% vs. 51%), lower generalized tonic–clonic seizures (8% vs. 30%), and no relapses on AED discontinuation (0% vs. 22%; Grosso et al., 2005). This article is part of a supplemental special issue entitled Juvenile Myoclonic Epilepsy: What is it Really? The percentage of patients who achieve remission ranges from 37–62% (Loiseau et al., 1995; Bartolomei et al., 1997; Trinka et al., 2004; Tovia et al., 2006; Aiguabella Macau et al., 2011). Hence, the prognostic outcomes in different studies are likely to reflect the era in which the study was conducted and the inclusion and exclusion criteria used. In another study, higher frequencies of reflex seizure traits (praxis and language induced) and personality disorders as well as higher anxiety scores were found to be associated with patients with poor seizure control compared to those who were seizure free (Guaranha et al., 2011). It usually begins at before the person turns 4 years old. On the contrary, a different study did not find any significant predictors of outcome (Bartolomei et al., 1997). The long‐term outcome of IGE with generalized tonic–clonic seizures was reported in a population‐based study with an average follow‐up of 22.2 years. Juvenile myoclonic epilepsy is one of the most common epilepsy syndromes (25% of idiopathic/genetic generalized epilepsy cases, or 10% of all epilepsy cases). The geometry of the pyramid depends on several factors, primarily related to the health care system access and patient referral habits. The interaction between predictors and outcomes of prognosis. JME typically starts in adolescence. In a retrospective study, it was demonstrated that 15% of patients with CAE developed JME later (Wirrell et al., 1996). Teens with JME do not have other developmental problems. Similarly, there are gray cases in the border zone between CAE and JAE, and how these cases are classified is not uniform. Feb. 12, 2004 -- Your parents may largely dictate how long you're going to live. The predictors of early remission (defined as 2‐year seizure control immediately after treatment commenced) versus late remission (2‐year seizure control achieved at least 24 months after AEDs commenced) were studied. Heterogeneity of studies could be a major factor responsible for such inconsistency. In the past, life expectancy was 8 - 15 years after symptoms began. Pseudoresistance due to lifestyle issues and poor compliance is seen in some (9.7–16.7%), whereas true resistance to AED therapy is reported in around 16% (Gelisse et al., 2001; Baykan et al., 2008). Classification bias may also influence prognostic observations. Bennett was exposed to Valproic Acid during pregnancy. The International League Against Epilepsy (ILAE) Diagnostic Manual's goal is to assist clinicians who look after people with epilepsy to diagnose the epilepsy syndrome and (if possible) the etiology of the epilepsy. The differences in statistical methods employed should also be taken into consideration when interpreting the results. They may also start in the late teenage years. Such a population is usually structured in a pyramidal fashion (Fig. However, some authorities such as Loiseau and Panayiotopoulos have considered this definition too broad and have proposed more stringent criteria (Hirsch & Panayiotopoulos, 2005; Panayiotopoulos, 2005). Compared to the Rochester study, this is a higher rate of remission. Explore symptoms, inheritance, genetics of this condition. Despite good seizure control, social outcomes are not always favorable in JME. ScienceDirect ® is a registered trademark of Elsevier B.V. ScienceDirect ® is a registered trademark of Elsevier B.V. Most studies indicate a better prognosis in idiopathic generalized epilepsy (IGE) in comparison with other epilepsy syndromes. Tonic seizures predominate, myoclonic seizures are uncommon, distinguishing this syndrome from early myoclonic encephalopathy. Juvenile myoclonic epilepsy 25 years after seizure onset: a population‐based study, Idiopathic generalized epilepsy with generalized tonic‐clonic seizures (IGE‐GTC): a population‐based cohort with >20 year follow up for medical and social outcome, Death in children with epilepsy: a population‐based study, Prognosis of epilepsy: a review and further analysis of the first nine years of the British National General Practice Study of Epilepsy, a prospective population‐based study, The risk of determining risk with multivariable models, Prognosis of “Pure” Petit Mal; a follow‐up study, Early versus late remission in a cohort of patients with newly diagnosed epilepsy, Course and outcome of childhood epilepsy: a 15‐year follow‐up of the Dutch study of epilepsy in childhood, Onset of intractability and its course over time: the Dutch study of epilepsy in childhood, Structural brain lesions do not influence the prognosis of juvenile myoclonic epilepsy, Clinical factors of drug resistance in juvenile myoclonic epilepsy, Childhood absence epilepsy: evolution and prognostic factors, Prognosis of juvenile myoclonic epilepsy is related to endophenotypes, Epidemiology of absence epilepsy: EEG findings and their predictive value. One study found poor response to AED therapy was associated with focal epileptiform discharges, less photosensitivity, and more neuropsychological EEG activation (Matsuoka, 1992), whereas another study failed to establish such an association (Baykan et al., 2008). Prognosis of Juvenile Myoclonic Epilepsy. With regard to seizure type, the probability of 20‐year remission was higher for generalized tonic–clonic seizures (80%) and absences (85%) compared to complex partial seizures (65%), which, however, was not specified for myoclonic seizures (Annegers et al., 1979). CAE persisting as JME demonstrated the worst outcome with only 7% free from all seizure types and 66% free from only generalized tonic–clonic seizures. Notably, the highest frequency of 95% was reported in the study with the longest follow‐up (Trinka et al., 2004). ... LGS is a life-threatening form of epilepsy and should be taken very seriously. The Dutch Study of Epilepsy in Childhood is a hospital‐based, prospective, incident cohort study on the prognosis of childhood epilepsy (Geerts et al., 2010). There is conflicting data on EEG as a predictor. The etiology, seizure remission, or AED use did not have an impact on the outcome. All three studies are from tertiary centers. Generalized tonic–clonic seizures and photosensitivity are often associated with the syndrome, but absences are infrequent and less common (ILAE, 1989; Thomas et al., 2005). Remission was defined as seizure freedom off medication at the end of follow‐up, but the duration of seizure freedom was not predefined. Inclusion of only childhood cases, having a mix of incident and prevalent cases, as well as longer follow‐up could account for this discrepancy. Whether the patient will float toward the apex (specialized epilepsy centers) or gravitate to the base (community and primary care centers) of the pyramid depends on several factors (B). Evidence‐Based Medicine Working Group, Long‐term prognosis in two forms of childhood epilepsy: typical absence seizures and epilepsy with rolandic (centrotemporal) EEG foci, Factors predicting prognosis of epilepsy after presentation with seizures, Juvenile myoclonic epilepsy subsyndromes: family studies and long‐term follow‐up, The seizure prognosis of juvenile myoclonic epilepsy, Outcomes of newly diagnosed idiopathic generalized epilepsy syndromes in a non‐pediatric setting, The relationship between treatment with valproate, lamotrigine, and topiramate and the prognosis of the idiopathic generalised epilepsies, Social adjustment in young adults with absence epilepsies, Behavioral problems in children with newly diagnosed idiopathic or cryptogenic epilepsy attending normal schools are in majority not persistent, Not only a matter of epilepsy: early problems of cognition and behavior in children with “epilepsy only”– a prospective, longitudinal, controlled study starting at diagnosis, Three to four years after diagnosis: cognition and behaviour in children with ‘epilepsy only’. Arriving at the correct epilepsy syndrome and/or etiology allows better decision-making about treatment and improves patient care. However, due to its comprehensive referral system, the Finnish study (Sillanpaa et al., 1998) is likely to represent a wider spectrum of severity and a mix of incident as well as prevalent cases. A prospective study evaluated the impact of neurobehavioral comorbidities (attention‐deficit/hyperactivity disorder, academic problems) on the cognitive development of children with newly diagnosed epilepsy in comparison to health controls. (2006) did not specify diagnostic criteria while Loiseau et al. Wirrell et al. There is also some free flow of patients between different layers. Hence, AED withdrawal may be appropriate in those typical cases in terminal remission. The majority of patients with JME have continuing seizures after a follow-up of two decades. The chronological evolution of myoclonic seizures was observed in a long‐term study. Juvenile myoclonic epilepsy (JME) is a hereditary, idiopathic, generalised epilepsy and is found in 5%–11% of patients with epilepsy. All three seizure types (myoclonus, generalized tonic–clonic seizures, absences) in combination and myoclonus alone account for the lowest rates (44.2% and 64.6%; Kleveland & Engelsen, 1998; Baykan et al., 2008), whereas the combination of myoclonus and generalized tonic–clonic seizures lies in between (27–65.1%; Kleveland & Engelsen, 1998; Baykan et al., 2008). Incident and prevalent cases represent patients at different stages of the natural history with different prognoses. Remission refers to seizure freedom over a defined period of time. Yet with newer supportive treatments, some people with milder forms of EMP1 can live into their 70s. The data reveals a fairly benign outcome in terms of seizure control. Many children have three different types of seizure: myoclonic seizures (brief muscle jerks) in the upper body; tonic clonic seizures; absence seizures. Absence seizures tend to become less severe with age (Panayiotopoulos, 2005). Potential errors in the diagnosis and classification due to misinterpretation of initially available data may also compromise the interpretation of results. A/Professor D’Souza has received travel, investigator‐initiated, and speaker honoraria from UCB Pharma, educational grants from Novartis Pharmaceuticals and Pfizer Pharmaceuticals, educational, travel and fellowship grants from GSK Neurology Australia, and honoraria from SciGen Pharmaceuticals. (2006) reported similar findings from a study involving children with new‐onset IGE and focal epilepsy in comparison to healthy controls. Feb. 12, 2004 -- Your parents may largely dictate how long you're going to live. However, both studies did not provide comparisons with a reference group from the general population, making it difficult to draw firm conclusions from the data. Prognostic outcomes appear to vary among different electroclinical syndromes of IGE; yet no firm conclusions can be drawn on predictors due to methodological heterogeneity. Overrepresentation of refractory cases due to selection bias as well as underrepresentation of children with good prognosis could account for the lower remission. Juvenile myoclonic epilepsy is a primary generalized epilepsy syndrome that is idiopathic in nature. Remission was defined as 2‐year seizure freedom in three studies (Loiseau et al., 1995; Trinka et al., 2004; Aiguabella Macau et al., 2011), and not specified in the other two. In the early stages, it can be difficult to distinguish progressive myoclonic epilepsy from benign idiopathic generalised epilepsies, such as juvenile myoclonic epilepsy.With PME, the initial effectiveness of anticonvulsant treatment diminishes as seizures become more frequent and neurological decline progresses. It is also important to recognize that new‐onset epilepsy and newly diagnosed epilepsy are not the same (Thurman et al., 2011). The duration of active epilepsy and mortality were significantly higher in the remote symptomatic group compared to idiopathic (Geerts et al., 2010). Juvenile myoclonic epilepsy (JME) is both a frequent and a very characteristic epileptic syndrome with female preponderance. None was in remission without AED therapy except in the classic JME group. Juvenile myoclonic epilepsy; ... by frequent intractable seizures and severe early encephalopathy resulting in limited development and reduced life expectancy. Although life expectancy is shortened, it is extremely variable. Prognosis research: why is Dr. Lydgate still waiting? The researchers also studied intractability as an outcome. In one retrospective study involving 21 patients, AED withdrawal was unsuccessful when attempted on eight patients in remission (Aiguabella Macau et al., 2011). Variations in EEG methodology could be, at least partially, responsible for this discrepancy. The follow‐up duration, methodology, and diagnostic criteria vary among the studies, which make comparisons difficult. Learn more. Inclusion criteria and classification have a strong influence on the outcome as demonstrated in a retrospective study (Grosso et al., 2005). Family history of generalized tonic–clonic seizures and late onset (>8 years) absence seizures seem to predict development of generalized tonic–clonic seizures (Loiseau et al., 1983; Vierck et al., 2010). Evidence for what we do following are classic symptoms of all types of study cohorts be. 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