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1.
Curr Opin Neurol ; 2020 Feb 18.
Artigo em Inglês | MEDLINE | ID: mdl-32073437

RESUMO

PURPOSE OF REVIEW: To illustrate the frequency and trends of the comorbidity of epilepsy and dementia and the effects of antiepileptic drugs (AEDs) on cognitive functions. RECENT FINDINGS: Although the mortality and incidence of epilepsy are decreasing overall, they are increasing in the elderly as a result of population growth and increased life expectancy. Alzheimer's disease and other dementias are among the commonest causes of seizures and epilepsy. Epilepsy can be also complicated by cognitive impairment, suggesting a bidirectional association. Although epilepsy with onset in the elderly can be the manifestation of a CNS disease/injury, the cause of cognitive impairment is multifactorial and includes static (genetic background, age at seizure onset, developmental and acquired cerebral lesions) and dynamic factors [recurrent seizures, epileptiform discharges, type and number of AEDs and psychiatric comorbidities]. Most AEDs, with special reference to first-generation drugs, have negative effects on cognitive functions; however, none was found to increase the risk of dementia. SUMMARY: A net increase in the burden of epilepsy, dementia and epilepsy-dementia comorbidity is expected. The growing use of second-generation AEDs might help reducing adverse cognitive effects. However, the fairly high cost of these drugs might delay their widespread use in resource-poor countries. VIDEO ABSTRACT: http://links.lww.com/CONR/A49.

2.
Epilepsy Behav ; 102: 106641, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31759314

RESUMO

PURPOSE: The purpose of this study was to assess the priorities of patients with epilepsy and caring physicians and the correspondence between these priorities. METHODS: In this multicenter cross-sectional study, patients with epilepsy attending 21 Italian epilepsy centers and their caring physicians filled anonymously questionnaires on the needs and priorities in the management of the disease. Included were questions on patients' demographics, diagnosis, treatment, and outcome of epilepsy. The concordance between patients and their physicians was assessed on various aspects of the diagnosis and care of the disease. Patients' satisfaction with communication, services, and patient-doctor relationship was also assessed. RESULTS: Included were 432 women and 355 men aged 15 to 88 years (median: 41 years). Disease duration ranged from 6 months to 75 years. A structural/metabolic etiology predominated (52.7%), followed by a (presumed) genetic etiology (33.0%). Seizure remission was present in 56.5% of cases. Comorbidities requiring chronic treatment were present in 27.5%, and comorbidities affecting self-sufficiency in 9.5%. Psychiatric comorbidity was present in 35.0%. Patients' priorities included discovery of the cause (89.1%), use of right drug (98.7%), use of a drug without chronic side effects (94.0%), and a life without restrictions (90.4%). Physicians' priorities included choice of right drug (83.5%) and use of drugs without chronic side effects (86.8%). Priorities varied with patients' age, sex, education, and occupation. Patient-doctor relationships were at least good in most cases. The information imparted was considered unsatisfactory by 21-44% of cases on seizure circumstances and complications, side effects of drugs, limitations of daily activities, and management of physiologic or pathologic conditions. Patients declared overall satisfaction, except for appointments (21.5%) and emergencies (30.8%). CONCLUSION: Patients and physicians' priorities in the management of epilepsy overlap only in part. Patients are satisfied with their caring physicians and less satisfied with communication and management of routine and emergency problems.

3.
J Neurol Neurosurg Psychiatry ; 91(1): 33-39, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31434759

RESUMO

BACKGROUND: We investigated the association between cigarette smoking and risk of amyotrophic lateral sclerosis (ALS) in a pooled analysis of population-based case-control studies and explored the independent effects of intensity, duration and time-since-quitting. METHODS: ALS cases and controls, matched by age, sex and region, were recruited in the Netherlands, Italy and Ireland (*Euro-MOTOR project). Demographics and detailed lifetime smoking histories were collected through questionnaires. Effects of smoking status, intensity (cigarettes/day), duration (years), pack-years and time-since-quitting (years) on ALS risk were estimated using logistic regression models, adjusting for age, sex, alcohol, education and centre. We further investigated effect modification of the linear effects of pack-years by intensity, duration and time-since-quitting using excess OR (eOR) models. RESULTS: Analyses were performed on 1410 cases and 2616 controls. Pack-years were positively associated with ALS risk; OR=1.26 (95% CI: 1.03 to 1.54) for the highest quartile compared with never smokers. This association appeared to be predominantly driven by smoking duration (ptrend=0.001) rather than intensity (ptrend=0.86), although the trend for duration disappeared after adjustment for time-since-quitting. Time-since-quitting was inversely related to ALS (ptrend<0.0001). The eOR decreased with time-since-quitting smoking, until about 10 years prior to disease onset. High intensity smoking with shorter duration appeared more deleterious than lower intensity for a longer duration. CONCLUSIONS: Our findings provide further support for the association between smoking and ALS. Pack-years alone may be insufficient to capture effects of different smoking patterns. Time-since-quitting appeared to be an important factor, suggesting that smoking may be an early disease trigger.

4.
Am J Phys Med Rehabil ; 99(1): 41-47, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31343501

RESUMO

OBJECTIVE: The aims of the study were to compare mobility in multiple sclerosis, Parkinson disease, and stroke, and to quantify the relationship between mobility and participation restrictions. DESIGN: This is a multicenter cross-sectional study. Included were compliant subjects with Parkinson disease, multiple sclerosis, and stroke seen for rehabilitation, with no comorbidities interfering with mobility. Functional scales were applied to each subject to investigate gait speed (10-meter walking test), balance while maintaining body position (Berg Balance Scale), dynamic balance and mobility (Timed Up and Go and Dynamic Gait Index), and participation (Community Integration Questionnaire). RESULTS: Two hundred ninety-nine patients (111 multiple sclerosis, 94 Parkinson disease, and 94 stroke) were enrolled. Stroke had the slowest gait speed (mean gait speed = 0.9 m/sec) compared with Parkinson disease (1.1 m/sec), and multiple sclerosis (1.2 m/sec) (P < 0.001). Multiple sclerosis was more limited than Parkinson disease and stroke in dynamic balance both in the Timed Up and Go Test (multiple sclerosis = 16.7 secs, Parkinson disease = 11.4 secs, stroke = 14.0 secs; P < 0.001) and Dynamic Gait Index (multiple sclerosis = 11.6 points, Parkinson disease = 12.9 points, stroke = 13.6 points; P = 0.03); ability to maintain balance and body position (Berg Balance Scale) was more affected in stroke and Parkinson disease than multiple sclerosis (multiple sclerosis = 42.6 points, Parkinson disease = 39.4 points, stroke = 39.7 points; P = 0.03). Balance disorders were associated with participation restrictions but not gait speed. CONCLUSIONS: Neurological conditions have differing impacts on gait and balance, leading to different levels of participation restriction.

5.
Neuroepidemiology ; : 1-7, 2019 Dec 18.
Artigo em Inglês | MEDLINE | ID: mdl-31852003

RESUMO

Epilepsy is a chronic disease of the brain characterized by an enduring (i.e., persisting) predisposition to generate seizures, unprovoked by any immediate central nervous system insult, and by the neurobiologic, cognitive, psychological, and social consequences of seizure recurrences. Epilepsy affects both sexes and all ages with worldwide distribution. The prevalence and the incidence of epilepsy are slightly higher in men compared to women and tend to peak in the elderly, reflecting the higher frequency of stroke, neurodegenerative diseases, and tumors in this age-group. Focal seizures are more common than generalized seizures both in children and in adults. The etiology of epilepsy varies according to the sociodemographic characteristics of the affected populations and the extent of the diagnostic workup, but a documented cause is still lacking in about 50% of cases from high-income countries (HIC). The overall prognosis of epilepsy is favorable in the majority of patients when measured by seizure freedom. Reports from low/middle-income countries (LMIC; where patients with epilepsy are largely untreated) give prevalence and remission rates that overlap those of HICs. As the incidence of epilepsy appears higher in most LMICs, the overlapping prevalence can be explained by misdiagnosis, acute symptomatic seizures and premature mortality. Studies have consistently shown that about one-half of cases tend to achieve prolonged seizure remission. However, more recent reports on the long-term prognosis of epilepsy have identified differing prognostic patterns, including early and late remission, a relapsing-remitting course, and even a worsening course (characterized by remission followed by relapse and unremitting seizures). Epilepsy per se carries a low mortality risk, but significant differences in mortality rates are expected when comparing incidence and prevalence studies, children and adults, and persons with idiopathic and symptomatic seizures. Sudden unexplained death is most frequent in people with generalized tonic-clonic seizures, nocturnal seizures, and drug refractory epilepsy.

6.
Front Neurol ; 10: 865, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31572282

RESUMO

Background: Falls, mobility impairments and lack of social support lead to participation restrictions in people with neurological conditions. The aim of this multicenter, single blinded randomized controlled trial was to test whether an educational program focusing on fall prevention and safe mobility reduces falls and increases social participation among people with neurological conditions. Methods: Ninety people with Stroke (n = 25), multiple sclerosis (n = 33) and Parkinson disease (n = 32), median age 63 (31-89), were randomized. A permuted block algorithm stratified by field center was used to allocate participants to an education group (EG, n = 42) consisting of an educational program focused on fall prevention and tailored balance exercises and a control group (CG, n = 48) receiving usual treatments. After baseline assessment, each participants was followed for 6 months with telephone contacts by blinded interviewers. Being fallers (>1 fall) and time to become a faller were used as primary outcomes. Community Integration Questionnaire (CIQ) and Instrumental Activities of Daily Living (IADL) scales assessed treatment effects on social integration and daily living activities. Results: Over a median (Interquartile Range) follow-up of 189 (182-205) days, [EG = 188 (182-202), CG = 189 (182-209)] fallers were 10 in the CG and 11 in the EG (hazard ratio 0.95, 95% confidence interval (CI) 0.45 to 2.5; P = 0.94). At follow-up the EG scored significantly better than CG on the CIQ (+1.7 points, CI: 0.1 to 3.3) and IADL (+2.2 points, CI: 0.4 to 4.0). Conclusions: This educational program did not reduce the risk of falls but it improved the ability to carry out activities of daily living and decreased participation restrictions in people with neurological conditions.

7.
J Neurol Sci ; 405: 116411, 2019 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-31476620

RESUMO

BACKGROUND: The impact of deep brain stimulation (DBS) on cognitive and urinary disorders, falls, and eventually hospitalizations and mortality in Parkinson's disease (PD) is still debated. OBJECTIVE: We compared the rates of dementia, mild cognitive impairment (MCI), urinary incontinence, nocturia, falls, hospitalizations, and mortality in a cohort of PD patients undergoing DBS with a cohort of medically-treated patients chosen as controls. METHODS: We conducted a retrospective pilot study in six Italian DBS centers. 91 PD patients receiving DBS and 91 age- and gender-matched controls receiving the best medical treatment alone with a minimum follow-up of one year were enrolled. Clinical data were collected from baseline to the last follow-up visit using an ad-hoc developed web-based system. RESULTS: The risk of dementia was similar in the two groups while patients in the surgical cohort had lower rates of MCI, urinary incontinence, nocturia, and falls. In contrast, the risk of hospital admissions related to PD was higher in the surgical cohort. However, when excluding hospitalizations related to DBS surgery, the difference between the two cohorts was not significant. The surgical cohort had a lower number of hospitalizations not related to PD. The risk of death was similar in the two groups. CONCLUSION: Despite a higher risk of hospitalization, patients receiving DBS had a lower rate of MCI, urinary incontinence, nocturia and falls, without evidence of an increased risk of dementia and mortality. Although these findings need to be confirmed in prospective studies, they seem to suggest that DBS may play a significant role in the management of non-motor symptoms and common complications of advanced PD.

9.
Neurol Sci ; 40(10): 2217-2234, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31392641

RESUMO

Epilepsy in brain tumors (BTE) may require medical attention for a variety of unique concerns: epileptic seizures, possible serious adverse effects of antineoplastic and antiepileptic drugs (AEDs), physical disability, and/or neurocognitive disturbances correlated to tumor site. Guidelines for the management of tumor-related epilepsies are lacking. Treatment is not standardized, and overall management might differ according to different specialists. The aim of this document was to provide directives on the procedures to be adopted for a correct diagnostic-therapeutic path of the patient with BTE, evaluating indications, risks, and benefits. A board comprising neurologists, epileptologists, neurophysiologists, neuroradiologists, neurosurgeons, neuro-oncologists, neuropsychologists, and patients' representatives was formed. The board converted diagnostic and therapeutic problems into seventeen questions. A literature search was performed in September-October 2017, and a total of 7827 unique records were retrieved, of which 148 constituted the core literature. There is no evidence that histological type or localization of the brain tumor affects the response to an AED. The board recommended to avoid enzyme-inducing antiepileptic drugs because of their interference with antitumoral drugs and consider as first-choice newer generation drugs (among them, levetiracetam, lamotrigine, and topiramate). Valproic acid should also be considered. Both short-term and long-term prophylaxes are not recommended in primary and metastatic brain tumors. Management of seizures in patients with BTE should be multidisciplinary. The panel evidenced conflicting or lacking data regarding the role of EEG, the choice of therapeutic strategy, and timing to withdraw AEDs and recommended high-quality long-term studies to standardize BTE care.

10.
Epilepsy Behav ; 101(Pt B): 106374, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31300383

RESUMO

Refractory status epilepticus (RSE) occurs in up to 30% of patients following resuscitation after cardiac arrest. The impact of aggressive treatment of postanoxic RSE on long-term neurological outcome remains uncertain. We investigated neurological outcome of cardiac arrest patients with RSE treated with a standardized aggressive protocol with antiepileptic drugs and anesthetics, compared with patients with other electroencephalographic (EEG) patterns. A prospective cohort of 166 consecutive patients with cardiac arrest in coma was stratified according to four independent EEG patterns (benign; RSE; generalized periodic discharges (GPDs); malignant nonepileptiform) and multimodal prognostic indicators. Primary outcomes were survival and cerebral performance category (CPC) at 6 months. Refractory status epilepticus occurred in 36 patients (21.7%) and was treated with an aggressive standardized protocol as long as multimodal prognostic indicators were not unfavorable. Refractory status epilepticus started after 3 ±â€¯2.3 days after cardiac arrest and lasted 4.7 ±â€¯4.3 days. A benign electroencephalographic patterns was recorded in 76 patients (45.8%), a periodic pattern (GPDs) in 13 patients (7.8%), and a malignant nonepileptiform EEG pattern in 41 patients (24.7%). The four EEG patterns were highly associated with different prognostic indicators (low flow time, clinical motor seizures, N20 responses, neuron-specific enolase (NSE), neuroimaging). Survival and good neurological outcome (CPC 1 or 2) at 6 months were 72.4% and 71.1% for benign EEG pattern, 54.3% and 44.4% for RSE, 15.4% and 0% for GPDs, and 2.4% and 0% for malignant nonepileptiform EEG pattern, respectively. Aggressive and prolonged treatment of RSE may be justified in cardiac arrest patients with favorable multimodal prognostic indicators. This article is part of the Special Issue "Proceedings of the 7th London-Innsbruck Colloquium on Status Epilepticus and Acute Seizures".

11.
Epilepsy Behav ; 100(Pt B): 106363, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31300385

RESUMO

Social functions are commonly impaired in people with epilepsy who are at increased risk of experiencing altered social cognition, communication problems, and interpersonal difficulties. Several factors are implicated, including developmental delay, seizure-related factors, somatic and psychiatric comorbidities, antiepileptic drugs (AEDs), and - not least - the effects of stigma. The variable interaction of all these factors can explain the differing pictures observed in the various epilepsy phenotypes but is also a source of interindividual variability depending on the strength of the effects of each factor on social cognition. This article is part of the Special Issue "Epilepsy and social cognition across the lifespan.

13.
Epilepsia ; 60(8): 1552-1564, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31260104

RESUMO

OBJECTIVE: To determine the incidence, etiology, and outcome of status epilepticus (SE) in Auckland, New Zealand, using the latest International League Against Epilepsy (ILAE) SE semiological classification. METHODS: We prospectively identified patients presenting to the public or major private hospitals in Auckland (population = 1.61 million) between April 6, 2015 and April 5, 2016 with a seizure lasting 10 minutes or longer, with retrospective review to confirm completeness of data capture. Information was recorded in the EpiNet database. RESULTS: A total of 477 episodes of SE occurred in 367 patients. Fifty-one percent of patients were aged <15 years. SE with prominent motor symptoms comprised 81% of episodes (387/477). Eighty-four episodes (18%) were nonconvulsive SE. Four hundred fifty episodes occurred in 345 patients who were resident in Auckland. The age-adjusted incidence of 10-minute SE episodes and patients was 29.25 (95% confidence interval [CI] = 27.34-31.27) and 22.22 (95% CI = 20.57-23.99)/100 000/year, respectively. SE lasted 30 minutes or longer in 250 (56%) episodes; age-adjusted incidence was 15.95 (95% CI = 14.56-17.45) SE episodes/100 000/year and 12.92 (95% CI = 11.67-14.27) patients/100 000/year. Age-adjusted incidence (10-minute SE) was 25.54 (95% CI = 23.06-28.24) patients/100 000/year for males and 19.07 (95% CI = 16.91-21.46) patients/100 000/year for females. The age-adjusted incidence of 10-minute SE was higher in Maori (29.31 [95% CI = 23.52-37.14]/100 000/year) and Pacific Islanders (26.55 [95% CI = 22.05-31.99]/100 000/year) than in patients of European (19.13 [95% CI = 17.09-21.37]/100 000/year) or Asian/other descent (17.76 [95% CI = 14.73-21.38]/100 000/year). Seventeen of 367 patients in the study died within 30 days of the episode of SE; 30-day mortality was 4.6%. SIGNIFICANCE: In this population-based study, incidence and mortality of SE in Auckland lie in the lower range when compared to North America and Europe. For pragmatic reasons, we only included convulsive SE if episodes lasted 10 minutes or longer, although the 2015 ILAE SE classification was otherwise practical and easy to use.

14.
Neurol Sci ; 40(10): 2155-2161, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31190251

RESUMO

OBJECTIVES: To generate and validate algorithms for the identification of individuals with dementia in the community setting, by the interrogation of administrative records, an inexpensive and already available source of data. METHODS: We collected and anonymized information on demented individuals 65 years of age or older from ten general practitioners (GPs) in the district of Brianza (Northern Italy) and compared this with the administrative data of the local health protection agency (Agenzia per la Tutela della Salute). Indicators of the disease in the administrative database (diagnosis of dementia in the hospital discharge records; use of cholinesterase inhibitors/memantine; neuropsychological tests; brain CT/MRI; outpatient neurological visits) were used separately and in different combinations to generate algorithms for the detection of patients with dementia. RESULTS: When used individually, indicators of dementia showed good specificity, but low sensitivity. By their combination, we generated different algorithms: I-therapy with ChEI/memantine or diagnosis of dementia at discharge or neuropsychological tests (specificity 97.9%, sensitivity 52.5%); II-therapy with ChEI/memantine or diagnosis of dementia at discharge or neuropsychological tests or brain CT/MRI or neurological visit (sensitivity 90.8%, specificity 70.6%); III-therapy with ChEI/memantine or diagnosis of dementia at discharge or neuropsychological tests or brain CT/MRIMRI and neurological visit (specificity 89.3%, sensitivity 73.3%). CONCLUSIONS: These results show that algorithms obtained from administrative data are not sufficiently accurate in classifying patients with dementia, whichever combination of variables is used for the identification of the disease. Studies in large patient cohorts are needed to develop further strategies for identifying patients with dementia in the community setting.

15.
J Neurol Neurosurg Psychiatry ; 90(11): 1276-1285, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31248935

RESUMO

OBJECTIVES: To describe the long-term prognosis of epilepsy and prognostic patterns in a large cohort of newly diagnosed patients and identify prognostic factors. METHODS: Study participants were 13 Italian epilepsy centres with accessible records dating back to 2005 or earlier, complete data on seizure outcome and treatments, precise epilepsy diagnosis, and follow-up of at least 10 years. Records were examined by trained neurology residents for demographics, seizure characteristics, neurological signs, psychiatric comorbidity, first electroencephalogram (EEG) and MRI/CT, epilepsy type and aetiology, antiepileptic drugs (AEDs), and 1-year, 2-year, 5-year and 10-year seizure remissions. Five predefined prognostic patterns were identified: early remission, late remission, relapsing-remitting course, worsening course and no remission. Prognostic factors were assessed using multinomial logistic regression models. RESULTS: 1006 children and adults were followed for 17 892 person-years (median 16 years; range 10-57). During follow-up, 923 patients (91.7%) experienced 1-year remission. 2-year, 5-year and 10-year remissions were present in 89.5%, 77.1% and 44.4% of cases. 5-year remission was associated with one to two seizures at diagnosis, generalised epilepsy, no psychiatric comorbidity, and treatment with one or two AEDs during follow-up. 10-year remission was associated with one or two AEDs. The most common prognostic pattern was relapsing-remitting (52.2%), followed by early remission (24.5%). 8.3% of cases experienced no remission. Predictors of a relapsing-remitting course were <6 seizures at diagnosis, (presumed) genetic aetiology and no psychiatric comorbidity. CONCLUSIONS: Few seizures at diagnosis, generalised epilepsy and no psychiatric comorbidity predict early or late seizure freedom in epilepsy. Achieving remission at any time after the diagnosis does not exclude further relapses.

16.
Neurol Sci ; 40(9): 1775-1783, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31055731

RESUMO

BACKGROUND: Epilepsy and hypertension are common chronic conditions, both showing high prevalence in older age groups. This review outlines current experimental and clinical evidence on both direct and indirect role of hypertension in epileptogenesis and discusses the principles of drug treatment in patients with hypertension and epilepsy. METHODS: We selected English-written articles on epilepsy, hypertension, stroke, and cerebrovascular disease until December, 2018. RESULTS: Renin-angiotensin system might play a central role in the direct interaction between hypertension and epilepsy, but other mechanisms may be contemplated. Large-artery stroke, small vessel disease and posterior reversible leukoencephalopathy syndrome are hypertension-related brain lesions able to determine epilepsy by indirect mechanisms. The role of hypertension as an independent risk factor for post-stroke epilepsy has not been demonstrated. The role of hypertension-related small vessel disease in adult-onset epilepsy has been demonstrated. Posterior reversible encephalopathy syndrome is an acute condition, often caused by a hypertensive crisis, associated with the occurrence of acute symptomatic seizures. Chronic antiepileptic treatment should consider the risk of drug-drug interactions with antihypertensives. CONCLUSIONS: Current evidence from preclinical and clinical studies supports the vision that hypertension may be a cause of seizures and epilepsy through direct or indirect mechanisms. In both post-stroke epilepsy and small vessel disease-associated epilepsy, chronic antiepileptic treatment is recommended. In posterior reversible encephalopathy syndrome blood pressure must be rapidly lowered and prompt antiepileptic treatment should be initiated.

17.
Epilepsy Res ; 154: 86-89, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31112901

RESUMO

BACKGROUND: Geographic isolates are the ideal setting to study the genetic background and the epidemiology of epilepsy. There are only few published reports on the epidemiology of pediatric epilepsy in geographic isolates. METHODS: This study was performed in the Ischia island, district of Napoli (Southern Italy). The local population includes 61,086 individuals, 8381 of them aged from 0 to 14 years. We included children with two or more unprovoked seizures or one unprovoked seizure associated to a high risk of relapse, observed from 2004 to 2017. Neonatal, febrile and acute symptomatic seizures were excluded. Eligible patients were identified through the local pediatricians' medical records. All probands and their parents underwent a face-to-face interview. Clinical charts were reviewed and electroclinical diagnoses were confirmed by two authors (AC, VB). RESULTS: Thirty-six children and adolescents were included. Overall, the prevalence of epilepsy in the Ischia island was 4.3 per 1,000 (95% CI 3.0-5.9). Incidence was 51.7 per 100,000 person-years (95% CI 36.2-71.6). Sixteen (44.4%) patients had a genetic (idiopathic) origin and 20 (55.6%) a symptomatic (structural/metabolic) etiology. Nine probands (25%) had at least one family member with epilepsy (including third-degree relatives). Their pedigrees were suggestive of dominant inheritance in six and of recessive inheritance in three families. CONCLUSIONS: The epidemiological features of pediatric epilepsy in this geographic isolate are similar to the general population. A family history was reported in one fourth of the patients with a wide clinical heterogeneity, likely reflecting genetic heterogeneity in this population.

18.
J Neurol Neurosurg Psychiatry ; 90(8): 854-860, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30850472

RESUMO

OBJECTIVE: To investigate whether exposure to particulates and combustion products may explain the association between certain occupations and amyotrophic lateral sclerosis (ALS) risk in a large, multicentre, population-based, case-control study, based on full job histories, using job-exposure matrices, with detailed information on possible confounders. METHODS: Population-based patients with ALS and controls were recruited from five registries in the Netherlands, Ireland and Italy. Demographics and data regarding educational level, smoking, alcohol habits and lifetime occupational history were obtained using a validated questionnaire. Using job-exposure matrices, we assessed occupational exposure to silica, asbestos, organic dust, contact with animals or fresh animal products, endotoxins, polycyclic aromatic hydrocarbons and diesel motor exhaust. Multivariate logistic regression models adjusting for confounding factors were used to determine the association between these exposures and ALS risk. RESULTS: We included 1557 patients and 2922 controls. Associations were positive for all seven occupational exposures (ORs ranging from 1.13 to 1.73 for high vs never exposed), and significant on the continuous scale for silica, organic dust and diesel motor exhaust (p values for trend ≤0.03). Additional analyses, adding an exposure (one at a time) to the model in the single exposure analysis, revealed a stable OR for silica. We found similar results when patients with a C9orf72 mutation were excluded. CONCLUSION: In a large, multicentre study, using harmonised methodology to objectively quantify occupational exposure to particulates and combustion products, we found an association between ALS risk and exposure to silica, independent of the other occupational exposures studied.

19.
Am J Epidemiol ; 188(4): 796-805, 2019 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-30649156

RESUMO

We explored the associations of occupational exposure to extremely low-frequency magnetic fields (ELF-MF) and electric shocks with the risk of amyotrophic lateral sclerosis (ALS) in a pooled case-control study (European Multidisciplinary ALS Network Identification to Cure Motor Neurone Degeneration (Euro-MOTOR)) of data from 3 European countries. ALS patients and population-based controls were recruited in Ireland, Italy, and the Netherlands between 2010 and 2015. Lifetime occupational and lifestyle histories were obtained using structured questionnaires. We applied previously developed job exposure matrices assigning exposure levels to ELF-MF and potential for electric shocks. Odds ratios and 95% confidence intervals were estimated by means of logistic regression for exposure to either ELF-MF or electric shocks, adjusted for age, sex, study center, education, smoking, and alcohol consumption and for the respective other exposure. Complete occupational histories and information on confounding variables were available for 1,323 clinically confirmed ALS cases and 2,704 controls. Both ever having had exposure to ELF-MF above the background level (odds ratio = 1.16, 95% confidence interval: 1.01, 1.33) and ever having had potential exposure above background for electric shocks (odds ratio = 1.23, 95% confidence interval: 1.05, 1.43) were associated with ALS. Adjustment for the respective other exposure resulted in similar risk estimates. Heterogeneity in risks across study centers was significant for both exposures. Our findings support possible independent associations of occupational exposure to ELF-MF and electric shocks with the risk of ALS.


Assuntos
Esclerose Amiotrófica Lateral/epidemiologia , Traumatismos por Eletricidade/epidemiologia , Campos Magnéticos/efeitos adversos , Doenças Profissionais/epidemiologia , Exposição Ocupacional/análise , Adulto , Esclerose Amiotrófica Lateral/etiologia , Estudos de Casos e Controles , Traumatismos por Eletricidade/etiologia , Feminino , Humanos , Irlanda/epidemiologia , Itália/epidemiologia , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Países Baixos/epidemiologia , Doenças Profissionais/etiologia , Exposição Ocupacional/efeitos adversos , Razão de Chances , Fatores de Risco
20.
Neuroepidemiology ; 52(3-4): 144-151, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30661067

RESUMO

BACKGROUND: The incidence of childhood and adolescence epilepsy varies in different areas and over time. Published reports in the Italian pediatric population are few and there is no information on the incidence of epilepsy using the new clinical definition of the disease signed by the International League Against Epilepsy. An increased risk of epilepsy is reported in subjects who presented with neonatal seizures (NS), but few population-based studies are available that compare incidence and age at onset of epilepsy in children with and without NS. OBJECTIVES: Ascertain the incidence of epilepsy in children in the province of Parma by applying the new practical clinical definition of epilepsy, and compare incidence and age of epilepsy onset in children with and without previous NS. METHODS: The study was carried out in the province of Parma, Emilia-Romagna Region, Northern Italy, using different data sources (clinical records and administrative data), and considered all the children born in the province of Parma between January 2002 and December 2014 and developing epilepsy by December 2016. We calculated the incidence of epilepsy in patients up to 14 years of age, incidence of epilepsy after NS and cumulative incidence of epilepsy at 1, 5, and 10 years' follow-up. To evaluate age at onset of epilepsy, we divided patients into 3 groups (epilepsy onset within 1 month, between 1 and 12 months, and after 1 year of life) and we compared age at onset of epilepsy between patients who had had previous NS and those who had not. RESULTS: The incidence of epilepsy was 78.6/100,000 persons-years (boys 88.1/100,000, girls 68.6/100,000). The incidence of epilepsy after NS was 15.2% (8.2% for male, 23.5% for female; 16.3% in born at term, 14.3% in pre-term). The incidence of epilepsy at 1, 5, and 10 years' follow-up was higher in patients with previous NS than in others. The age at onset of epilepsy was significantly different in the 2 groups, and was younger in those with history of NS: mean age at onset was 10.5 months in those with NS and of 61.8 months in the others. CONCLUSIONS: The incidence rate of epilepsy in the Parma district was higher than that reported in other Italian areas studied, probably due to the different methodology used and the application of the most recent definition of epilepsy. Children with NS were at higher risk of epilepsy and develop the disease at a younger age.


Assuntos
Epilepsia/diagnóstico , Epilepsia/epidemiologia , Vigilância da População , Convulsões/diagnóstico , Convulsões/epidemiologia , Idade de Início , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Itália/epidemiologia , Masculino , Vigilância da População/métodos , Estudos Retrospectivos
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