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1.
Epilepsy Behav ; 37: 1-6, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24949574

RESUMO

The most common thresholds for considering prolonged seizures as status epilepticus (SE) are 5 and 30 min. It is unknown whether these different thresholds (5 or 30 min) identify patient populations with different electroclinical characteristics. We compared the characteristics of patients with SE lasting 5-29 min (SE5-29) with those with SE lasting ≥30 min (SE≥30). Inclusion criteria were the following: 1) 1 month to 21 years of age at the time of SE, 2) convulsive seizures, and 3) seizure duration ≥5 min. Exclusion criteria were the following: 1) exclusively neonatal seizures, 2) psychogenic nonepileptic seizures, or 3) incomplete information about seizure duration. Four hundred forty-five patients (50.1% male) with a median (p25-p75) age at SE of 5.5 (2.8-10.5) years were enrolled. Status epilepticus lasted for 5-29 min in 296 (66.5%) of subjects and for ≥30 min in 149 (33.5%). Patients with SE≥30 were younger than the patients with SE5-29 at the time of seizure onset (median: 1 versus 2.1 years, p=0.0007). Status epilepticus as the first seizure presentation was more frequent in patients with SE≥30 (24.2% versus 12.2%, p=0.002). There was a tendency towards a higher rate of abnormalities in the magnetic resonance imaging at baseline in patients with SE≥30 (70.5% versus 57.1%, p=0.061). Differences were not detected in seizure frequency, seizure types, presence of developmental delay, and electroencephalogram abnormalities at baseline. In the pediatric population, SE thresholds of either 5 or 30 min identify groups of patients with very similar electroclinical characteristics, which may influence future definitions of pediatric SE.


Assuntos
Convulsões/diagnóstico , Convulsões/epidemiologia , Estado Epiléptico/patologia , Estado Epiléptico/fisiopatologia , Adolescente , Criança , Feminino , Previsões , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Pediatria , Fatores de Risco , Fatores de Tempo
2.
Sleep Breath ; 18(1): 119-24, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23636561

RESUMO

PURPOSE: We sought to examine the prevalence of central sleep apnea (CSA) and complex sleep apnea (CompSA) in patients with epilepsy and to examine their clinical profile, with respect to epilepsy type, etiology, medication use, and EEG abnormalities. METHODS: We undertook a retrospective analysis of 719 consecutive patients with epilepsy who underwent polysomnography (PSG) at our institution between 2004 and 2011. Of the 458 patients with complete data, we excluded 42 patients with congestive heart failure or left ventricular ejection fraction <40 %. Comparison of clinical and PSG variables between the three groups were conducted with Fisher exact test and analysis of variance. RESULTS: Out of 416 patients tested, 315 (75 %) had obstructive sleep apnea (OSA), 16 (3.7 %) had CSA, 33 (7.9 %) had CompSA. There were more males in the CSA and CompSA groups than in the OSA group (81.2, 81.8, and 59.6 %, respectively, p=0.04). Focal seizures were more prevalent in patients with CSA than in patients OSA or CompSA (62.5, 265, and 21.1 %, respectively, p=0.02). CONCLUSION: About 11 % of epilepsy patients have sleep-breathing disorders with central apneas, which is not higher than that in a general population. These data should be expanded with future research investigating the role of interictal, ictal, and postictal central apneas in epileptogenesis and epilepsy.


Assuntos
Epilepsia/diagnóstico , Epilepsia/epidemiologia , Síndromes da Apneia do Sono/diagnóstico , Síndromes da Apneia do Sono/epidemiologia , Apneia do Sono Tipo Central/diagnóstico , Apneia do Sono Tipo Central/epidemiologia , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/epidemiologia , Adulto , Idoso , Anticonvulsivantes/uso terapêutico , Comorbidade , Pressão Positiva Contínua nas Vias Aéreas , Estudos Transversais , Epilepsias Parciais/diagnóstico , Epilepsias Parciais/epidemiologia , Epilepsias Parciais/terapia , Epilepsia/terapia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polissonografia , Estudos Retrospectivos , Fatores de Risco , Síndromes da Apneia do Sono/terapia , Apneia do Sono Tipo Central/terapia , Apneia Obstrutiva do Sono/terapia , Estatística como Assunto
3.
J Clin Sleep Med ; 20(5): 821-823, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38156419

RESUMO

Rapid eye movement sleep behavior disorder is a sleep disturbance characterized by the absence of regular paralysis during rapid eye movement sleep, accompanied by dream enactment behavior. The available pharmacotherapy options for treating rapid eye movement sleep behavior disorder are limited, and the utilization of antidepressants has yielded mixed results. We report 3 cases of isolated rapid eye movement sleep behavior disorder improved with trazodone. Doses of 50-100 mg of trazodone at bedtime over 4-6 months resulted in significant clinical improvement. These cases highlight that trazodone could serve as a treatment for isolated rapid eye movement sleep behavior disorder that does not respond to traditional treatments at submaximal dosages. CITATION: Barrow J, Vendrame M. Treatment of REM sleep behavior disorder with trazodone: report of 3 cases. J Clin Sleep Med. 2024;20(5):821-823.


Assuntos
Transtorno do Comportamento do Sono REM , Trazodona , Humanos , Trazodona/uso terapêutico , Transtorno do Comportamento do Sono REM/tratamento farmacológico , Masculino , Feminino , Pessoa de Meia-Idade , Polissonografia/efeitos dos fármacos , Adulto , Resultado do Tratamento
4.
Cureus ; 16(4): e57540, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38707044

RESUMO

Narcolepsy Type 1 is a sleep disorder, with cataplexy as its cardinal feature, characterized by sudden decrease or loss of muscle tone triggered by strong emotions. Cataplexy can be misdiagnosed as epileptic seizures given its clinical similarity to atonic seizures. The low prevalence of the disease added another layer of complexity in providing timely and accurate diagnosis. We report a case of a young man with recurrent episodes of falling and an inability to respond, initially misinterpreted as epileptic seizures due to findings in routine electroencephalography (EEG). Anti-seizure medications were ineffective, and subsequent ambulatory EEG revealed no epileptic activity during events. A detailed history uncovered symptoms of cataplexy and daytime sleepiness, leading to the correct diagnosis of narcolepsy type I confirmed by polysomnogram (PSG) and mean sleep latency test (MSLT). Discontinuation of anti-seizure medications and treatment with venlafaxine successfully resolved cataplexy. The case highlights the importance of a thorough clinical history in distinguishing cataplexy from seizures, as well as the caution against relying solely on EEG findings for epilepsy diagnosis. Ambulatory EEG can help exclude epileptic events, and PSG with MSLT are necessary to confirm narcolepsy type I.

5.
J Clin Sleep Med ; 19(11): 1981-1984, 2023 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-37485693

RESUMO

Growing evidence suggests that transgender individuals face a significant health disparity and are particularly vulnerable to sleep disorders. We present two patients who developed irregular sleep-wake rhythm disorder after gender reassignment and hormone replacement therapy. The growing interest in transgender health warrants further evaluation of the effects and frequency of all sleep disorders in this population. Efforts to address sleep disorders should consider assessing sleep disturbance in terms of sleep/wake patterns and schedules. CITATION: Kokash A, Vendrame M. Images: irregular sleep-wake rhythm disorder in transgender individuals. J Clin Sleep Med. 2023;19(11):1981-1984.


Assuntos
Transtornos do Sono do Ritmo Circadiano , Transtornos do Sono-Vigília , Pessoas Transgênero , Humanos , Transtornos do Sono do Ritmo Circadiano/complicações , Transtornos do Sono do Ritmo Circadiano/terapia , Transtornos do Sono-Vigília/complicações , Transtornos do Sono-Vigília/terapia , Sono , Ritmo Circadiano
6.
J Clin Sleep Med ; 19(11): 1985-1987, 2023 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-37477148

RESUMO

Residents and fellows can play a helpful role in promoting safe and effective machine-learning tools in sleep medicine. Here we highlight the importance of establishing ground truths, considering key variables, and prioritizing transparency and accountability in the development of machine-learning tools within the field of artificial intelligence. Through understanding, communication, and collaboration, in-training physicians have a meaningful opportunity to help progress the field toward safe machine-learning tools in sleep medicine. CITATION: Smith CM, Vendrame M. Perspective: a resident's role in promoting safe machine-learning tools in sleep medicine. J Clin Sleep Med. 2023;19(11):1985-1987.


Assuntos
Internato e Residência , Médicos , Humanos , Inteligência Artificial , Aprendizado de Máquina , Sono
7.
Epilepsy Behav Rep ; 23: 100614, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37501890

RESUMO

Juvenile Myoclonic Epilepsy (JME) is an idiopathic generalized epilepsy associated with a characteristic sleep/wake rhythm, with the tendency to go to bed later at night, to get up later in the morning. In the pediatric population, we have previously observed specific circadian and sleep/wake patterns of generalized seizures (6 am-12 pm) and myoclonic seizures (in wakefulness, 6 am to noon). Delayed Sleep-Wake Phase Disorder (DSWPD) is characterized by sleep initiation insomnia when attempting sleep at conventional times and difficulty waking at the required time. Here we present the case of a 20-year-old man with JME, diagnosed DSWPD (sleep schedule 3 am to 11 am), presenting with nocturnal seizures out of sleep, always between 5 and 6am. Improvements in seizure control (seizure frequency from 8 per month to 0 per month) were achieved with timed evening melatonin, combined with behavioral sleep-wake scheduling (sleep schedule 10 pm to 6 am) and morning light therapy. Recognition and characterization of DSWPD in JME, together with assessment of circadian and diurnal seizure patterns, may offer therapeutic consideration for better control of seizures.

8.
Epilepsia ; 53(7): 1170-7, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22578060

RESUMO

PURPOSE: Epileptic spasms are seizures that occur predominantly in children and are characterized by clusters of brief axial movements. Epileptic spasms may occur in the context of a variety of syndromes. Previous research has found that epileptic spasms occur in a sleep/wake and diurnal rhythm. The purpose of this study was to identify these patterns in different age groups. METHODS: Charts of 2,021 patients with epilepsy undergoing video-electroencephalography (EEG) monitoring over a 10-year period were reviewed for presence of epileptic spasms and analyzed for their occurrence during the day (6 a.m. to 6 p.m.) or night, out of wake or sleep, and in 3-h time-blocks throughout the day. Exact epileptic spasm time, EEG localization, and the presence or absence of magnetic resonance imaging lesion were also recorded. Patients were separated into two age groups: A ages 3 and under, and over age 3. Statistical analysis of seizure occurrence in time bins was carried out using binomial calculations. p-Values <0.05 were taken as significant. Using exact seizure times, a generalized linear mixed model of the Poisson-family with a square root link function was used to calculate mean seizure times. Age, as a binary variable, and time, as a categorical variable, was treated as fixed effect predictors, and individual effects were modeled as random effects. For comparison between the two age groups, over age 3 and under age 3, seizure times were transformed into circular variables. A circular analysis of variance test was used to assess for the difference in mean seizure time, assuming a von Mises distribution of the circle. KEY FINDINGS: We analyzed 219 clusters of epileptic spasms in 51 patients (15 girls; mean age 2.15 ± 2.22 years). Forty-two patients younger than 3 years of age had 163 seizures and nine patients older than 3 years had 56 seizures. Epileptic spasms occurred predominantly during wakefulness (p < 0.001) and during daytime (p < 0.001). Epileptic spasms occurred most frequently between 9 a.m. and noon (p < 0.05) and between 3 p.m. and 6 p.m. (p < 0.001). Patients without magnetic resonance imaging lesions had most seizures between 9 a.m. and noon (p < 0.01) and 3 p.m. and 6 p.m. (p < 0.001). Thirty-seven patients had 157 epileptic spasms (71.2%) with generalized EEG patterns and 14 patients had 62 epileptic spasms (28.8%) with focal EEG patterns. Generalized EEG seizures occurred more frequently than focal EEG seizures (p < 0.001). Following age stratification, patients younger than 3 years had most epileptic spasms between 9 a.m. and noon (p < 0.05) and 3 p.m. and -6 p.m. (p < 0.01) and patients older than 3 years had most epileptic spasms between 6 a.m. and -9 a.m. (p < 0.05) and a second peak between 3 p.m. and 6 p.m., although the difference was not statistically significant due to insufficient numbers. Using continuous time analysis, the mean seizure time in the under age 3 and the over age 3 groups was 2:24 p.m. and 11:40 a.m. Using a circular analysis of variance test, the difference between mean seizure times in these groups was found to be statistically significant (p = 0.038). SIGNIFICANCE: Epileptic spasms occur more frequently in the waking state and daytime. Younger patients have epileptic spasms mostly between 9 a.m. and noon and 3 p.m. and -6 p.m., and older patients have epileptic spasms mostly between 6 a.m. and 9 a.m. These findings emphasize age-related changes in epileptic spasm pathophysiology or potentially evolution of disease with age.


Assuntos
Envelhecimento , Ritmo Circadiano/fisiologia , Epilepsia/fisiopatologia , Sono/fisiologia , Espasmo/fisiopatologia , Vigília/fisiologia , Criança , Pré-Escolar , Eletroencefalografia , Feminino , Humanos , Lactente , Estudos Longitudinais , Imageamento por Ressonância Magnética , Masculino , Gravação de Videoteipe
9.
Epilepsia ; 53(10): 1810-9, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22780551

RESUMO

PURPOSE: To provide an estimate of the frequency of dacrystic seizures in video-electroencephalography (EEG) long-term monitoring units of tertiary referral epilepsy centers and to describe the clinical presentation of dacrystic seizures in relationship to the underlying etiology. METHODS: We screened clinical records and video-EEG reports for the diagnosis of dacrystic seizures of all patients admitted for video-EEG long-term monitoring at five epilepsy referral centers in the United States and Germany. Patients with a potential diagnosis of dacrystic seizures were identified, and their clinical charts and video-EEG recordings were reviewed. We included only patients with: (1) stereotyped lacrimation, sobbing, grimacing, yelling, or sad facial expression; (2) long-term video-EEG recordings (at least 12 h); and (3) at least one brain magnetic resonance imaging (MRI) study. KEY FINDINGS: Nine patients (four female) with dacrystic seizures were identified. Dacrystic seizures were identified in 0.06-0.53% of the patients admitted for long-term video-EEG monitoring depending on the specific center. Considering our study population as a whole, the frequency was 0.13%. The presence of dacrystic seizures without other accompanying clinical features was found in only one patient. Gelastic seizures accompanied dacrystic seizures in five cases, and a hypothalamic hamartoma was found in all of these five patients. The underlying etiology in the four patients with dacrystic seizures without gelastic seizures was left mesial temporal sclerosis (three patients) and a frontal glioblastoma (one patient). All patients had a difficult-to-control epilepsy as demonstrated by the following: (1) at least three different antiepileptic drugs were tried in each patient, (2) epilepsy was well controlled with antiepileptic drugs in only two patients, (3) six patients were considered for epilepsy surgery and three of them underwent a surgical/radiosurgical or radioablative procedure. Regarding outcome, antiepileptic drugs alone achieved seizure freedom in two patients and did not change seizure frequency in another patient. Radiosurgery led to moderately good seizure control in one patient and did not improve seizure control in another patient. Three patients were or are being considered for epilepsy surgery on last follow-up. One patient remains seizure free 3 years after epilepsy surgery. SIGNIFICANCE: Dacrystic seizures are a rare but clinically relevant finding during video-EEG monitoring. Our data show that when the patient has dacrystic and gelastic seizures, the cause is a hypothalamic hamartoma. In contrast, when dacrystic seizures are not accompanied by gelastic seizures the underlying lesion is most commonly located in the temporal cortex.


Assuntos
Eletroencefalografia/métodos , Convulsões/diagnóstico , Convulsões/etiologia , Gravação de Videoteipe , Adulto , Idoso , Anticonvulsivantes/uso terapêutico , Encéfalo/patologia , Encéfalo/fisiopatologia , Criança , Pré-Escolar , Feminino , Humanos , Estudos Longitudinais , Imageamento por Ressonância Magnética , Masculino , Convulsões/fisiopatologia , Convulsões/terapia , Adulto Jovem
10.
Epilepsy Behav ; 23(3): 261-5, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22341959

RESUMO

We prospectively analyzed EEGs from participants in the ongoing NIH Rare Diseases Clinical Research Network Angelman Syndrome Natural History Study. Of the one-hundred-sixty enrolled patients (2006-2010), 115 had complete data (58 boys, median age 3.6 years). Distinct EEG findings were intermittent rhythmic delta waves (83.5%), interictal epileptiform discharges (74.2%), intermittent rhythmic theta waves (43.5%), and posterior rhythm slowing (43.5%). Centro-occipital and centro-temporal delta waves decreased with age (p=0.01, p=0.03). There were no specific correlations between EEG patterns and genotypes. A classification tree allowed the prediction of deletions class-1 (5.9 Mb) in patients with intermittent theta waves in <50% of EEG and interictal epileptiform abnormalities; UPD, UBE3A mutation or imprinting defects in patients with intermittent theta in <50% of EEG without interictal epileptiform abnormalities; deletions class-2 (5.0 Mb) in patients with >50% theta and normal posterior rhythm; atypical deletions in patients with >50% theta but abnormal posterior rhythm. EEG patterns are important biomarkers in Angelman syndrome and may suggest the underlying genetic etiology.


Assuntos
Síndrome de Angelman , Ondas Encefálicas/fisiologia , Eletroencefalografia , Genótipo , Deleção de Sequência/genética , Ubiquitina-Proteína Ligases/genética , Adolescente , Adulto , Fatores Etários , Síndrome de Angelman/diagnóstico , Síndrome de Angelman/genética , Síndrome de Angelman/fisiopatologia , Ondas Encefálicas/genética , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Prospectivos , Análise de Regressão , Estudos Retrospectivos , Processamento de Sinais Assistido por Computador , Adulto Jovem
11.
Am J Med Genet A ; 155A(7): 1558-62, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21626671

RESUMO

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic disorder, characterized by multiple congenital anomalies, and intellectual disability. It is caused by a genetically inherited deficiency of the enzyme 7-dehydrocholesterol-delta-7-reductase, which results in increased serum levels of 7-dehydrocholesterol (7-DHC), and decreased levels of cholesterol. This study assesses the prevalence of sleep problems in patients with SLOS. The study group comprised 18 subjects with SLOS, ages 2-31 years (median 10.7 ± 8.5 years). Parents completed several questionnaires (Intake Demographic Form; Pediatric Sleep Questionnaire; Pediatric Daytime Sleepiness Scale). The SLOS subjects had symptoms of sleep-disordered breathing (50% snoring; 66.7% mouth breathing), problems with sleep onset [difficulty falling asleep (61.1%) sleep onset time >30 min (62%)], sleep maintenance [wake up screaming (61.1%), waking up more than twice (44.4%), having trouble falling back to sleep (66.7%), waking up early in the morning (61.1%), and restless sleep (50%)]. The subjects with SLOS needed parents in the room to fall asleep (50%), watch TV or listen to music to fall asleep (44.4%), and described bed sharing (33.3%), indicating sleep-anxiety and sleep-associations. Symptoms of excessive-daytime-sleepiness were frequently reported [un-refreshed in the morning (38.9%), daytime sleepiness (44.4%), and daytime naps (55.6%)]. Parents frequently observed difficulty of organizing tasks (66.7%), and easy distractibility (88.9%). Sleep problems such as sleep-disordered breathing, sleep-related anxiety and sleep associations, disturbed sleep patterns at night, and excessive daytime sleepiness are frequent in children with SLOS.


Assuntos
Transtornos do Sono-Vigília/epidemiologia , Síndrome de Smith-Lemli-Opitz/diagnóstico , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Prevalência , Síndrome de Smith-Lemli-Opitz/epidemiologia , Síndrome de Smith-Lemli-Opitz/fisiopatologia , Inquéritos e Questionários , Adulto Jovem
12.
Epilepsia ; 52(11): e168-71, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21849000

RESUMO

In patients with epilepsy, improvement in seizure control with treatment of coexisting obstructive sleep apnea (OSA) has been reported, but there is lack of data on the effect of continuous positive airway pressure (CPAP) compliance on seizure control in these patients. We examined the variability in seizure frequency in patients who were CPAP compliant and those who were not CPAP compliant. We undertook a retrospective review of clinical and polysomnographic data of adult patients with OSA and epilepsy seen at the Boston University Medical Center Epilepsy and Sleep Clinics between 2000 and 2010. Data were reviewed for CPAP compliance and seizure frequency after at least 6 months of CPAP use. Only patients with no changes in antiepileptic drug regimens during CPAP trial were included. Of the 660 patients identified, 41 fulfilled inclusion criteria, of whom 28 were CPAP compliant and 13 were not CPAP compliant. In the compliant group, CPAP use led to decreased seizure frequency from 1.8 per month to 1 per month (p = 0.01). In the noncompliant group, no significant difference in seizure frequency was noted between baseline (2.1 per month) and at follow-up (1.8 per month, p = 0.36). Sixteen of 28 CPAP-compliant subjects were seizure free, whereas only 3 of 13 non-CPAP compliant subjects were seizure free [relative risk (RR) 1.54, p = 0.05]. Patients with epilepsy and OSA not compliant with CPAP treatment are at higher risk of seizures than are CPAP-compliant patients. To validate this observation, further prospective studies are warranted.


Assuntos
Pressão Positiva Contínua nas Vias Aéreas , Epilepsia/complicações , Apneia Obstrutiva do Sono/complicações , Adulto , Idoso , Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Cooperação do Paciente , Convulsões/complicações , Convulsões/prevenção & controle , Apneia Obstrutiva do Sono/terapia , Adulto Jovem
13.
Epilepsia ; 52(6): 1076-83, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21426332

RESUMO

PURPOSE: To evaluate the relationship of sleep/awake and circadian patterns to generalized seizures. METHODS: Charts of 1,044 consecutive pediatric epilepsy patients undergoing video-electroencephalography (EEG) monitoring (vEEG) over 5 years were reviewed: 962 patients were excluded due to focal epilepsy (556), nonepileptic recorded events (217), missing data (125), age over 21 years (59), and no recorded events or seizures (10). Seizure semiology of recorded seizures with generalized onset on EEG was classified according to the International League Against Epilepsy (ILAE) seizure semiology terminology, and analyzed based on occurrence during day (6 a.m. to 6 p.m.) or night and on their relationship to wakefulness and sleep, with calculated occurrence in 3-h time blocks throughout 24 h. Statistical analysis was performed with binomial testing. KEY FINDINGS: Three-hundred sixteen generalized seizures were analyzed in 77 children. Mean age was 6.4 years ± 5.4 (range 0.33-20 years), including 50.6% girls. Tonic and tonic-clonic seizures were more frequently seen in sleep, whereas all other generalized semiologic seizure types occurred more frequently out of wakefulness. Clonic seizures had two peaks: (6-9 a.m.) and (noon to 3 p.m.) in wakefulness. Absence seizures occurred predominantly in wakefulness, (9 a.m. to noon and 6 p.m. to midnight). Atonic seizures occurred predominantly in wakefulness (noon to 6 p.m.). Myoclonic seizures occurred in wakefulness (6 a.m. to noon). Epileptic spasms had two peaks: (6-9 a.m. and 3-6 p.m.) in wakefulness. SIGNIFICANCE: Circadian pattern and sleep-wake patterns are important considerations in characterization of generalized seizure types. Recognition and characterization of individual diurnal seizure patterns offer new diagnostic and therapeutic options, including EEG or long-term video EEG monitoring scheduling, differential (day/night) medication dosing, and a better understanding of pathophysiologic mechanisms underlying circadian patterns of epilepsy.


Assuntos
Ritmo Circadiano/fisiologia , Convulsões/fisiopatologia , Sono/fisiologia , Vigília/fisiologia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Eletroencefalografia/métodos , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Convulsões/diagnóstico , Gravação de Videoteipe/métodos , Adulto Jovem
14.
Epileptic Disord ; 13(1): 18-21, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21393094

RESUMO

The syndrome of malignant migrating partial seizures of infancy (MMPEI) is characterized by early onset of multiple seizures types, highly pharmaco-resistant seizures, and overall poor prognosis. In this study, we investigated retrospectively the efficacy of rufinamide (RUF) in five infants with MMPEI, by examining seizure type and frequency, EEG features and antiepileptic drug use. The data demonstrate that two of the five patients showed good efficacy and tolerability for RUF with a > 50% reduction in seizure frequency. The use of RUF for the treatment of MMPEI may therefore provide some hope for such infants and should be further validated. [Published with video sequences].


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsias Parciais/tratamento farmacológico , Triazóis/uso terapêutico , Encéfalo/fisiopatologia , Pré-Escolar , Eletroencefalografia , Epilepsias Parciais/fisiopatologia , Feminino , Humanos , Masculino , Resultado do Tratamento
15.
Epilepsy Behav ; 18(4): 460-5, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20637707

RESUMO

Here we describe the clinical characteristics of children with isolated midline spikes, comparing patients with and without epilepsy, and examining the evolution of midline spikes on repeat EEGs. EEGs and clinical information of 69 patients with isolated midline spikes identified from our EEG database were reviewed. Forty-three patients had a history of seizures. Most patients had complex partial seizures, and had an approximately five times higher chance of having new discharges at other sites on repeat EEGs than the nonepilepsy group (odds ratio=4.95). Most children without epilepsy had developmental delay, attention deficit hyperactivity disorder, and pervasive developmental disorder. Their repeat EEGs showed disappearance or persistence of the midline discharges, with a two times higher probability of normal repeat EEG (58%) than the epilepsy group (24%) (odds ratio=2.40). Isolated midline spikes may represent focal epileptiform activity, but are also found in normal children and in children with developmental and behavioral problems.


Assuntos
Mapeamento Encefálico , Encéfalo/fisiopatologia , Epilepsia/diagnóstico , Epilepsia/fisiopatologia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Eletroencefalografia/métodos , Epilepsia/classificação , Feminino , Humanos , Lactente , Estudos Longitudinais , Masculino , Análise Numérica Assistida por Computador , Estudos Retrospectivos , Adulto Jovem
16.
Epilepsy Behav ; 19(3): 306-10, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20727826

RESUMO

Prader-Willi syndrome (PWS) is a genomic imprinting disease secondary to the loss of a functional paternal copy of 15q11-q13. Unlike its related imprinting disorder, Angelman syndrome, PWS has not been regarded as a risk factor for epilepsy. A retrospective analysis of 92 patients with PWS identified 24 (26%) with seizures. Twenty-two of these (92%) were affected by focal epilepsy and only two (8%) had generalized epilepsy. The most common seizure type was staring spells (67%). Correlation to genotype analysis showed deletions were more common in patients with epilepsy than in patients without epilepsy. The epilepsy syndromes were easy to control with a single antiepileptic drug in most cases. Three patients (11%) had had febrile seizures. These findings suggest that PWS may be a risk factor for epilepsy, which can manifest with focal features. Patients with PWS with a deletion genotype showed a trend toward developing seizures compared with patients with other genotypes in our series, even though this difference did not achieve statistical significance.


Assuntos
Epilepsia/etiologia , Epilepsia/genética , Síndrome de Prader-Willi/complicações , Síndrome de Prader-Willi/genética , Adolescente , Criança , Pré-Escolar , Deleção Cromossômica , Eletroencefalografia , Epilepsia/classificação , Feminino , Impressão Genômica , Genótipo , Humanos , Lactente , Masculino , Mutação , Estudos Retrospectivos , Fatores de Risco , Estatística como Assunto , Adulto Jovem
17.
Epilepsy Behav ; 16(3): 431-5, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19767243

RESUMO

We assessed the impact of age at onset of epilepsy and duration and frequency of seizures on cognitive development in children less than 3 years old. Retrospective analysis was conducted on clinical data and neuropsychological testing of 33 infants with epilepsy. Developmental quotients were calculated and were correlated with age at epilepsy onset, duration of epilepsy, seizure frequency, brain pathology, and types of seizures (with/without spasms) as potential predictors. Infants with longer duration and earlier onset of epilepsy performed worse on developmental neuropsychological testing. Regression analyses showed that age at epilepsy onset and percentage of life with epilepsy were both strongly associated (regression model P<0.0001) with developmental quotient. There was no correlation with seizure frequency. Infants with spasms had worse developmental quotients than infants without spasms (P<0.001). These results suggest that duration of epilepsy and age at onset may be the best developmental predictors during the first years of life in patients with epilepsy. Early aggressive intervention should be considered.


Assuntos
Desenvolvimento Infantil , Transtornos Cognitivos/etiologia , Epilepsia/complicações , Idade de Início , Pré-Escolar , Deficiências do Desenvolvimento , Feminino , Humanos , Lactente , Masculino , Testes Neuropsicológicos , Análise de Regressão , Estudos Retrospectivos
18.
Pediatr Neurol ; 38(5): 314-20, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-18410846

RESUMO

Although the initial manifestations of narcolepsy in children may differ from those with adult onset, hypersomnia remains the most common presenting sign. This study aimed to (1) describe the clinical and polysomnographic features, and treatment outcomes, of a group of children with narcolepsy, and (2) describe other sleep disorders to be considered in the differential diagnosis of hypersomnia and which may coexist with narcolepsy. A retrospective review of 125 children referred in 1 year for hypersomnia revealed 20 patients (16%) with narcolepsy. Of these, only 15% exhibited cataplexy, 10% experienced hallucinations, and none manifested sleep paralysis. Eighty-five percent of children with narcolepsy had sleep-disordered breathing on polysomnography. Body mass indices of these children were higher than for healthy, age-matched controls subjects. Other polysomnography findings included periodic limb movements of sleep (25%) and parasomnias (5%). The multiple sleep latency test revealed a mean sleep latency of 6.14 minutes, with sleep-onset rapid eye movement periods (median, 2/5 naps). Treatment with modafinil and sodium oxybate provided optimal control of daytime sleepiness. Physicians should routinely screen for hypersomnia in children by obtaining a detailed history and, in appropriate situations, ordering polysomnographic testing to rule out narcolepsy and other causes of hypersomnia.


Assuntos
Narcolepsia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Narcolepsia/epidemiologia , Narcolepsia/etiologia , Narcolepsia/terapia , Polissonografia , Estudos Retrospectivos
19.
Pediatr Neurol ; 39(1): 6-11, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18555166

RESUMO

Although previous studies suggested a relationship between headache and sleep disturbances, polysomnographic findings in children with headache are rarely described. We investigated polysomnographic findings in children with headaches, and correlated them with headache type and severity, body mass index, and medical treatment. Analysis of polysomnographic findings of 90 children with migraine (60), chronic migraine (11), tension headache (6), and nonspecific headache (13) indicated that sleep-disordered breathing was more frequent among children with migraine (56.6%) and nonspecific headache (54%) vs chronic migraine (27%). Tension headache was not associated with sleep-disordered breathing. In the nonspecific headache group, children with sleep-disordered breathing had higher body mass indexes (P = 0.008). Severe migraine and chronic migraine were associated with shorter sleep time, longer sleep latency, and shorter rapid eye movement and slow-wave sleep. Fifty percent of children with tension headache manifested bruxism vs 2.4% of children with nontension headache (odds ratio, 1.95; 95% confidence interval, 1.2-4.34). Our results support an association between migraine and sleep-disordered breathing, and between tension headache and bruxism, in children. Moreover, disrupted sleep architecture with reduced rapid eye movement and slow-wave sleep in severe and chronic migraine headaches may support an intrinsic relationship between sleep and headache disorders.


Assuntos
Cefaleia/diagnóstico , Polissonografia , Transtornos do Sono-Vigília/diagnóstico , Adolescente , Adulto , Criança , Feminino , Cefaleia/etiologia , Humanos , Masculino , Transtornos de Enxaqueca/complicações , Transtornos de Enxaqueca/fisiopatologia , Estudos Retrospectivos , Apneia Obstrutiva do Sono/complicações , Apneia Obstrutiva do Sono/diagnóstico , Transtornos do Sono-Vigília/complicações , Sono REM/fisiologia , Cefaleia do Tipo Tensional/complicações , Cefaleia do Tipo Tensional/fisiopatologia
20.
BMC Neurol ; 7: 18, 2007 Jun 27.
Artigo em Inglês | MEDLINE | ID: mdl-17597529

RESUMO

BACKGROUND: The clinical and radiological aspects of hypoxic brain injury without ischemia are not well characterized. A spectrum of clinical manifestations have been observed in patients that recover from hypoxic brain injury, including a subset that demonstrate persistent motor system disturbances. Early Magnetic Resonance Imaging (MRI) studies have shown abnormalities in basal ganglia, cerebral and cerebellar cortex. CASE PRESENTATION: A 23-year-old man was affected by acute respiratory failure after drug overdose. His clinical condition progressed from coma to partial recovery with persistent lack of control and stiffness in the lower extremities. MRI of the brain showed evolving lesions in the cerebellum, globus pallidus and motor cortex that correlated with neurological signs. CONCLUSION: A careful analysis of this case and a review of the relevant literature indicate that the clinical residua after recovery from hypoxic injury to the brain is predominantly disorders of the motor system, and the MRI manifestations as well as the clinical presentation can evolve over time. Understanding more of the factors that affect hypoxic brain injury can be helpful in determining the clinical outcome and management of these patients.


Assuntos
Encéfalo/patologia , Hipóxia-Isquemia Encefálica/diagnóstico , Imageamento por Ressonância Magnética , Transtornos dos Movimentos/diagnóstico , Tratos Piramidais/patologia , Adulto , Humanos , Masculino
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