Temporal auditory processing and phonological awareness in children with benign epilepsy with centrotemporal spikes.

The aim of this research was to analyze temporal auditory processing and phonological awareness in school-age children with benign childhood epilepsy with centrotemporal spikes (BECTS). Patient group (GI) consisted of 13 children diagnosed with BECTS. Control group (GII) consisted of 17 healthy children. After neurological and peripheral audiological assessment, children underwent a behavioral auditory evaluation and phonological awareness assessment. The procedures applied were: Gaps-in-Noise test (GIN), Duration Pattern test, and Phonological Awareness test (PCF). Results were compared between the groups and a correlation analysis was performed between temporal tasks and phonological awareness performance. GII performed significantly better than the children with BECTS (GI) in both GIN and Duration Pattern test (P < 0.001). GI performed significantly worse in all of the 4 categories of phonological awareness assessed: syllabic (P = 0.001), phonemic (P = 0.006), rhyme (P = 0.015) and alliteration (P = 0.010). Statistical analysis showed a significant positive correlation between the phonological awareness assessment and Duration Pattern test (P < 0.001). From the analysis of the results, it was concluded that children with BECTS may have difficulties in temporal resolution, temporal ordering, and phonological awareness skills. A correlation was observed between auditory temporal processing and phonological awareness in the suited sample.

Rolandic discharges: clinico-neurophysiological correlation.

OBJECTIVE: The aim of this study was to analyze neurophysiologic aspects of rolandic discharges. METHODS: We reviewed 45 electroencephalograms of patients divided into two groups: those with benign childhood epilepsy with centrotemporal spikes (BCECTS) and symptomatic partial epilepsy (SPE), following ILAE criteria (1989). The EEG data analyzed were: horizontal dipole discharges, double spike phenomenon, the extension of epileptiform discharges and background activity. RESULTS: There was a predominance of horizontal dipole between patients with BCECTS compared with patients with SPE; however, this difference was not statistically significant. There was also no statistically significant difference between the two groups when the double spike phenomenon and the extension of discharges beyond the rolandic area were considered. The slower background activity in the SPE group was the only variable with statistical significance. CONCLUSIONS: This study revealed similarities between rolandic discharges of two different epilepsy groups. The only reliable parameter to differentiate the groups was the background activity. SIGNIFICANCE: Our findings suggest that most EEG rolandic features are not pathognomonic of BCECTS, as they are related to the area of the discharges and not to the epileptic syndrome itself.

Congenital bilateral perisylvian syndrome: familial occurrence, clinical and psycholinguistic aspects correlated with MRI.

OBJECTIVE: Congenital bilateral perisylvian syndrome (CBPS) is frequently caused by polymicrogyria (PMG). The aim of this study was to correlate the clinical and psycholinguistic aspects with neuroradiological data of patients with CBPS. METHODS: Thirty-one patients were studied. We performed a clinical investigation of the patients and their families, including MRI scanning, neuropsychological tests and language evaluation. RESULTS: The statistical analysis showed that: a) prenatal events are associated with the non-familial type of PMG; b) diffuse PMG is associated with pseudobulbar signs, as opposed to BPPP; c) motor deficit is associated with diffuse PMG; d) epilepsy is equally present in patients with both familial or non-familial PMG, but is more frequently seen in patients with diffuse PMG; e) dyslexia and SLI can be a feature of both the diffuse or BPPP, and either familial or sporadic cases of PMG. CONCLUSIONS: The severity of clinical manifestations in CBPS is correlated with the extent of cortical involvement. Most patients with CBPS have a history of speech delay or language difficulties and no epilepsy. Dyslexia can be found in patients with PMG.

MRI reveals structural abnormalities in patients with idiopathic generalized epilepsy.

OBJECTIVE: To evaluate MRI findings in a large group of patients with idiopathic generalized epilepsies. METHODS: Idiopathic generalized epilepsies were diagnosed according to clinical and EEG criteria following International League Against Epilepsy recommendations. MRI was performed in a 2.0 T scanner using a previously established epilepsy protocol. Images were reviewed, and any abnormality was reported. Patients were divided in those with and without MRI abnormalities. Comparisons were made between these groups concerning age, age at seizure onset, subsyndrome, EEG findings, and seizure control. RESULTS: Of the 134 MRIs evaluated, 33 (24%) showed abnormalities, most of which (88%) were nonspecific. There were eight main abnormalities: arachnoid cyst, diffuse cortical atrophy, basal ganglia abnormalities (signal alterations and prominent perivascular spaces), ventricular abnormalities (uni- or bilateral increased volume of the lateral ventricles), white matter abnormalities (increased T2 signal in the frontal lobes), reduced hippocampal volume, focal gyral abnormality, and area of gliosis in the frontal lobe. Comparisons between the groups showed a higher proportion of EEG focalities in patients with abnormal MRI, which were in most part concordant with the location of the MRI abnormalities. CONCLUSIONS: Twenty-four percent of patients with idiopathic generalized epilepsies had MRI abnormalities. However, the majority of these abnormalities were nonspecific.

Patterns of hippocampal abnormalities in malformations of cortical development.

OBJECTIVE: To assess whether different types of malformation of cortical development (MCD) are associated with specific patterns of hippocampal abnormalities. METHODS: A total of 122 consecutive patients with MRI diagnosis of MCD (53 males, age range 1-58 years) were included in the study. Hippocampal measurements were made on 1-3 mm coronal T1-weighted MRIs and compared with MRIs of normal controls. RESULTS: A total of 39 patients had focal cortical dysplasia, 5 had hemimegalencephaly, 5 had lissencephaly-agyria-pachygyria, 11 had SLH, 11 had PNH, 12 had bilateral contiguous PNH, 5 had schizencephaly, and 34 had polymicrogyria. The frequency of hippocampal abnormalities in these patients with MCD was 29.5%. A small hippocampus was present in all types of MCD. Only patients with lissencephaly and SLH had an enlarged hippocampus. Abnormalities in hippocampal rotation and shape were present in all types of MCD; however, these predominated in PNH. None of the patients with lissencephaly-agyria-pachygyria or SLH had hyperintense signal on T2 or FLAIR images or abnormal hippocampal internal architecture. CONCLUSION: A small hippocampus was present in all types of MCD; however, the classic MRI characteristics of hippocampal sclerosis were often lacking. Abnormal enlargement of the hippocampus was associated with only diffuse MCD due to abnormal neuronal migration (lissencephaly-agyria-pachygyria and SLH).

Comorbidity headache and epilepsy in childhood.

RATIONALE: Epilepsy and headache are both frequent in childhood. Because seizures are frequently a frightening event, other medical conditions--including headache--are often neglected not only by the patient, but also by the physician. The objective of this study was to verify the comorbidity between headache and epilepsy in childhood. METHODS: This was a prospective study conducted at the pediatric epilepsy clinic of our university hospital. Fifty children with epilepsy and ability to describe their symptoms, between 5 and 18 years old, were interviewed according to a semi-structured questionnaire. The headache was classified according to the International Headache Society. The frequency of headache was compared with the findings of a control group composed by children without epilepsy, siblings of children with epilepsy. RESULTS: Fifty children were evaluated, 29 boys, mean age 11 years. Twenty-three (46 %) patients presented with headache, as opposed to only 1 (2.5 %) in the control group ( p < 0.01). Ten (43.5 %) had migraine, 4 (17.4 %) had tension type headache and in 9 (39.1 %) the type of headache could not be established. In 9/23 (39 %) a temporal relationship between headache and epilepsy was present, 6 postictal and 3 preictal. There was no difference in gender, age, type of seizure and family history of headache in the groups of patients with or without headache. However, most patients with headache were older than 10 years (54.5 %) and had idiopathic epilepsy (65.2 %; p < 0.01). The headache usually started in the same year or after the diagnosis of epilepsy (95 %; p < 0.01). CONCLUSION: Headache and epilepsy are a common comorbidity in childhood, and occur mostly in children older than 10 years with idiopathic epilepsy. The headache usually starts in the same year or after the diagnosis of epilepsy.

Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia.

The authors describe clinical, neuroimaging and molecular findings in a group of 15 patients with classic lissencephaly (LIS) and subcortical band heterotopia (SBH). A 1385A-->C mutation was found in the LIS1 gene in one patient with LIS more severe than expected for individuals with missense mutations in LIS1. The authors believe that the site of the mutation, present in a functionally critical region of the protein, could explain the unusual severe phenotype found in this patient.

Developmental language disorder associated with polymicrogyria.

BACKGROUND: Subtle disorders of neuronal migration occur in the brains of some dyslexic patients who presented developmental language disorder (DLD) during early childhood. OBJECTIVE: To investigate a possible neuroanatomical substrate based on neuroimaging evaluation in children with DLD. METHODS: The authors obtained psychological assessment, language evaluation, neurologic examination, and neuroimaging investigation. Inclusion criteria were as follows: children should be at least 4 years of age; primary complaint of language delay; normal hearing; IQ >70; and an informed consent form signed by parents or guardians. Exclusion criteria were severe motor and cognitive handicap. RESULTS: Fifteen children met all inclusion criteria. Ages ranged from 4 to 14 years and 11 were boys. Six patients presented diffuse polymicrogyria (PMG) around the entire extent of the sylvian fissure on MRI, and they had severe clinical manifestation of DLD: they did not speak at all or had mixed phonologic-syntactic deficit syndrome. Six children presented PMG restricted to the posterior aspects of the parietal regions, and they had a milder form of DLD: mainly phonologic programming deficit syndrome. The other three children had different imaging findings. CONCLUSIONS: Developmental language disorder can be associated with polymicrogyria and the clinical manifestation varies according to the extension of cortical abnormality. A subtle form of posterior parietal polymicrogyria presenting as developmental language disorder is a mild form of perisylvian syndrome.

[Attention deficit hyperactivity disorder: proposal of neuropsychological assessment]. / Transtorno do déficit de atenção e hiperatividade: proposta de avaliação neuropsicológica para diagnóstico.

Attention deficit hyperactivity disorder (ADHD) is characterized by a persistent pattern of inattention and/or hyperactivity/impulsivity. The aim of this research was to contribute more precisely to the diagnosis of ADHD, to propose a battery of neuropsychological assessment and to analyze the contribution of each test. We studied 10 matched pairs of children with ADHD and normal controls (7 to 11 years). Inclusion criteria were: presence of ADHD typical behavior, positive diagnosis of ADHD based on DSM-IV, normal IQ, normal neurological examination and parental consent. We used extensive neuropsychological battery. The results showed differential sensitivity for detection of attentional problems in children with ADHD, although most tests did not reach statistical significance. The item, errors, of WCST revealed statistically significant difference between the two groups: ADHD performance was inferior to controls. In conclusion the neuropsychological assessment battery used in this research contributed to the diagnosis of ADHD.

Bilateral posterior parietal polymicrogyria: a mild form of congenital bilateral perisylvian syndrome?

PURPOSE: The main features of congenital bilateral perisylvian syndrome (CBPS) are pseudobulbar palsy, cognitive deficits, epilepsy, and perisylvian abnormalities on imaging studies, however, the clinical spectrum of this syndrome is much wider than previously believed and may vary from minor speech difficulties to severely disabled patients. The objective of this study was to present the different imaging and clinical findings of 17 patients with CBPS, their genetic background, and the occurrence of prenatal injury during their pregnancies. METHODS: We evaluated 17 consecutive patients with CBPS and divided them into two groups according to the imaging findings: (a) diffuse polymicrogyria around the sylvian fissure and (b) posterior polymicrogyria at the posterior parietal regions. They were systematically interviewed regarding history of prenatal events during their pregnancies, family history of speech difficulties, epilepsy, or other neurologic abnormality. RESULTS: There were seven women, ages ranging from 3 to 41 years (mean, 11.5; median, 7 years). Seven patients had bilateral posterior parietal polymicrogyria (BPPP), and 10 had diffuse bilateral perisylvian polymicrogyria. All seven patients with BPPP had only minor speech difficulties, none had epilepsy, and all but one had a family history of epilepsy or cortical dysgenesis. In contrast, 10 patients with diffuse bilateral perisylvian polymicrogyria had pseudobulbar palsy, four had epilepsy, eight had a history of a major prenatal event, and only four had a family history of epilepsy or developmental delay. CONCLUSIONS: These findings suggest that diffuse bilateral perisylvian polymicrogyria appears to be more related to injuries caused by environmental factors, whereas BPPP has a stronger genetic predisposition. In addition, BPPP appears to have a wider clinical spectrum than previously believed, and may represent a milder extreme within the spectrum of CBPS.

Epileptic manifestations induced by midazolam in the neonatal period.

Antiepileptic drugs may cause worsening of epilepsy by aggravating pre-existing seizures or by triggering new seizure types. There are several reports of adverse effects related to midazolam, but only a few authors reported epileptic manifestations. We report four newborns seen at the Neonatal Intensive Care Unit of our University Hospital, who developed seizures a few seconds after the administration of midazolam. It is difficult to identify the patients at risk, but it is important to be aware and recognize this situation.

Seizure outcome and hippocampal atrophy in familial mesial temporal lobe epilepsy.

OBJECTIVE: To describe the clinical, genetic and MR characteristics of patients with familial mesial temporal lobe epilepsy (MTLE). DESIGN/METHODS: The familial occurrence of MTLE was identified by a systematic search of family history of seizures in patients followed in the authors' epilepsy clinic. All probands and, whenever possible, other affected family members underwent EEG and MR investigations. RESULTS: Twenty-two unrelated families with at least two individuals with MTLE were identified by clinical and EEG findings. Ninety-eight individuals with history of seizures were evaluated. Sixty-eight patients fulfilled the diagnostic criteria for MTLE. MRI was performed in 84 patients, and showed hippocampal atrophy with increased T2 signal in 48 (57%). The distribution of hippocampal atrophy according to the seizure outcome groups was 6 of 13 patients (46%) with seizure remission, 16 of 31 (51%) with good seizure control under medication, and all 16 patients with refractory MTLE. Hippocampal atrophy was found also in patients that did not fulfill the criteria for MTLE: 3 of 10 (30%) patients with febrile seizure alone, 6 of 10 (60%) patients with recurrent generalized tonic-clonic seizures, and 1 of 4 (25%) patients with a single partial seizure. CONCLUSION: Familial MTLE is a clinically heterogeneous syndrome. Hippocampal atrophy was observed in 57% of patients, including those with benign course or seizure remission, indicating that the relationship between hippocampal atrophy and severity of epilepsy might be more complex than previously suspected. In addition, these findings indicate the presence of a strong genetic component determining the development of mesial temporal sclerosis in these families.

Childhood epilepsy due to neurocysticercosis: a comparative study.

PURPOSE: To assess the clinical profile of pediatric patients with epilepsy and neurocysticercosis (NC), and compare them with a group of pediatric patients with benign partial epilepsy to determine clinical differences, response to treatment, and prognosis. METHODS: We studied 28 patients (16 girls) with probable or definitive diagnosis of NC and epilepsy and 32 patients (16 girls) with partial benign epilepsy (BE). All patients had normal neurologic examination. We compared NC and BE patients looking for differences in demographics (age at first seizure, gender, family history); clinical presentation (type, frequency, duration, and total number of seizures, duration of epilepsy, status epilepticus, cluster, and postictal deficit); treatment [duration, number of antiepileptic drugs (AEDs), maximal dose, drug association, number of seizure-free patients, time to obtain control and recurrence after medication discontinuation]; complementary examinations (the first and the last EEG). RESULTS: The mean follow-up was 5.4 years for the 28 NC patients and 4.6 years for the 32 BE patients (p=0.98). We did not find statistical differences between NC and BE in gender, family history, types of seizures, frequency and length of seizures, previous status epilepticus, seizure clustering, and presence of postictal deficits. However, we found that NC compared with BE patients had significant longer AED treatment, more seizures after AED introduction, tried more AEDs and at maximal dose, and in 20%, required polytherapy. The recurrence rate in NC was 54.4% and this was not significantly associated with number of lesions and disease activity seen on CT scans or the presence of EEG abnormalities. CONCLUSIONS: NC presents with a mild form of epilepsy in terms of seizure severity; however, it is more challenging in regard to drug management and has a less favorable long-term prognosis in terms of seizure remission. The number of lesions or disease activity seen on computed tomography (CT) as well as EEG abnormalities have no prognostic value in childhood epilepsy due to NC.

Predisposition to metabolic acidosis induced by topiramate.

RATIONALE: Metabolic acidosis induced by topiramate is a well documented but infrequent adverse event. The objective was to demonstrate the lowering of carbon dioxide serum levels, which is usually asymptomatic but may facilitate the occurrence of metabolic acidosis in patients using topiramate. METHODS: We evaluated, prospectively, the carbon dioxide serum levels of 18 patients seen at the epilepsy clinic of our university hospital, before and 3 months after introducing topiramate. RESULTS: Five patients were female and 13 were male, age ranging from 2 to 16 years old (mean=9. 3). Carbon dioxide mean serum levels were 25 and 21.2 mmol/L (normal = 22 to 30), before and 3 months after introducing topiramate, respectively. Dose ranged from 2.08 to 11.76 mg/kg/day (mean=6. 7mg/kg/day). Adverse events were anorexia, nausea and somnolence. CONCLUSION: We conclude that the lowering of carbon dioxide serum levels induced by topiramate is mostly asymptomatic, but may facilitate the occurrence of metabolic acidosis. Since patients in use of topiramate have refractory epilepsy, they may need epilepsy surgery, and must be carefully monitored for the risk of metabolic acidosis during surgery.

[Familial partial epilepsies]. / Epilepsias parciais familiares.

OBJECTIVE: To investigate the clinical and genetic characteristics of familial partial epilepsies. METHOD: Family history of seizures was questioned in all patients followed in our epilepsy clinics, from October 1997 to December 1998. Those with positive family history were further investigated and detailed pedigrees were obtained. All possibly affected individuals available underwent clinical evaluation. Seizures and epilepsy syndromes were classified according to the ILAE recommendations. Whenever possible, EEG and MRI were performed. RESULTS: Positive family history was identified in 32 unrelated patients. A total of 213 possibly affected individuals were identified, 161 of whom have been evaluated. The number of affected subjects per family ranged from two to 23. Temporal lobe epilepsy (TLE) was identified in 22 families (68%), frontal lobe epilepsy in one family (3%), partial epilepsy with centrotemporal spikes in five families (15%), and other benign partial epilepsies of childhood in four families (12%). Most of the affected individuals in the TLE families (69%) had clinical and/or EEG characteristics of typical TLE. However, the severity of epilepsy was variable, with 76% of patients with spontaneous seizure remission or good control with medication and 24% with refractory seizures, including 7 patients that underwent surgical treatment. In the other 10 families, we identified 39 possibly affected subjects, 23 of whom were evaluated. All had good seizure control (with or without medication) except for one patient with frontal lobe epilepsy. Pedigree analysis suggested autosomal dominant inheritance with incomplete penetrance in all families. CONCLUSION: Family history of seizures is frequent among patients with partial epilepsies. The majority of our families had TLE and its expression was not different from that observed in sporadic cases. The identification of genes involved in partial epilepsies may be usefull in classification of syndromes, to stablish prognosis and optimal treatment.

De novo psychogenic seizures after epilepsy surgery: case report.

The occurrence of de novo psychogenic seizures after epilepsy surgery is rare, and is estimated in 1.8% to 3.6%. Seizures after epilepsy surgery should be carefully evaluated, and de novo psychogenic seizures should be considered especially when there is a change in the ictal semiology. We report a patient with de novo psychogenic seizures after anterior temporal lobe removal for refractory temporal lobe epilepsy. Once psychogenic seizures were diagnosed and psychiatric treatment was started, seizures stopped.

Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment.

Two familial X-linked dominant syndromes of cortical maldevelopment have recently been described: double cortex/lissencephaly syndrome and bilateral periventricular nodular heterotopia. We report on 12 kindreds with familial perisylvian polymicrogyria (FPP) presenting at 10 centers, examine the clinical presentation in these familial cases, and propose a possible mode of inheritance. The clinical and radiological pattern was variable among the 42 patients, with clinical differences among the families and even within members of the same family. Pseudobulbar signs, cognitive deficits, epilepsy, and perisylvian abnormalities on imaging studies were not found in all patients. When present, they displayed a spectrum of severity. The only clear correlation in this study was between bilateral imaging findings and abnormal tongue movements and/or pronounced dysarthria. Most of the families provided evidence suggestive of, or compatible with, X-linked transmission. On the other hand, the pedigrees of 2 families ruled out X-linked inheritance. The most likely mode of inheritance for these 2 families was autosomal dominant with decreased penetrance; however, autosomal recessive inheritance with pseudodominance could not be ruled out in 1 family. We conclude that FPP appears to be genetically heterogeneous. However, most of the families probably represent a third previously undescribed X-linked syndrome of cortical maldevelopment.

[First epileptic crisis. Analysis of risk factors for recurrence]. / Crise epiléptica única. Análise dos fatores de risco para recorrência.

We studied children who presented with a first seizure and came to the outpatient clinic for childhood from September/1989 to July/1996. The following risk factors were assessed: age, sex, type and etiology of the seizure, sleep state at time of seizure, family history of seizures, electroencephalogram (EEG) and computerized tomography (CT). Our purpose was to assess the risk factors in univariable and multivariable analysis. We found two groups of patients according to the etiology: (a) idiopathic cases (IC) and (b) symptomatic cases (SC). This last group had only two patients and was excluded from the analysis. We studied only the IC group with 86 patients. Seizure recurrence was observed 29 children (33%), during 2.4 years. Only patients with abnormal EEG and family history for unprovoked seizures had a higher risk of recurrence (p < 0.003). After the first unprovoked seizure estimate of recurrence by survival curves was 18% at first semester, 27% at first year, 35% at second year and 38% at third year.

A pilot study of topiramate in children with Lennox-Gastaut syndrome.

We conducted an open, add-on study with topiramate (TPM) as adjunctive therapy in Lennox-Gastaut syndrome (LGS), to assess the long-term efficacy and safety and to evaluate quality of life (QL) measurements in the chronic use of TPM. We studied 19 patients (11 male; age ranging from 4 to 14 years) with uncontrolled seizures receiving 2-3 anti-epileptic drugs. Patients were followed up to 36 months of treatment. A questionnaire was used to query parents about QL. Seven patients completed the study at 36 months and seizure frequency was reduced > or = 75% in 4, and < 50% in 3 patients. Two children became seizure free for more than 24 months. Most side effects were CNS related, with the most frequent being somnolence and anorexia. These were generally transient. One patient dropped-out due to powder in the urine. None of the patients required hospitalization. At 36 months, patients' alertness (2/7), interaction with environment (5/7), ability to perform daily activities (5/7), and verbal performance (6/7) improved on TPM. We conclude that TPM may be useful as adjunctive therapy in the treatment of LGS. The efficacy of TPM was maintained in long-term treatment in more than 40% of patients, long term safety was confirmed and QL improved on TPM.

[Cerebrovascular disease in children: I. Epileptic manifestations]. / Doença cerebrovascular na infância. I. Manifestações epilépticas.

Seizures may occur as a complication of cerebrovascular disease (CVD) and its prevalence, clinical presentation, risk factors and evolution have been reported by few authors. We evaluated 39 children with CVD and analyzed the association with seizures. Seizures occurred in 24 (61.5%) patients and were classified as partial (29.2%), generalized (54.2%) and secondarily generalized (16.6%). Infants had a significantly higher prevalence of seizures (p = 0.0362) than children at other ages. Cortical localization was associated with a significantly higher prevalence of seizures (p = 0.0101). There were no differences between ischemic and hemorrhagic strokes. Fourteen patients had no seizures after the acute phase of the CVD, the 2 previously epileptic patients had their seizures controlled with antiepileptic drugs, 3 developed epilepsy, 2 died during the acute phase and in 3 patients there was not enough time yet to make a clear diagnosis of epilepsy.