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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Many neurologic abnormalities have been identified in patients with a deletion of chromosome region 22q11.2, including recurrent, apparently unprovoked seizures. We reviewed the database of patients with a 22q11.2 deletion at the Children's Hospital of Philadelphia to assess the prevalence of idiopathic epilepsy in this population. The records of 383 patients with a confirmed 22q11.2 deletion were reviewed for documentation of seizures; precipitating events such as hypocalcemia, fever, and recent surgery; MRI and EEG findings (to aid in seizure classification); and potential risk factors for epilepsy. Of 348 patients with adequately detailed histories, 27 patients had apparently unprovoked seizures (7% of the total population). A disproportionate number of these patients met criteria for generalized epilepsy. Cardiac disease and prematurity were not risk factors for the development of unprovoked seizures in this population. The prevalence of unprovoked seizures in individuals meeting criteria for epilepsy in patients with a 22q11.2 deletion evaluated at our institution is much greater than in the general population. The association with generalized epilepsy suggests that this increased risk is a primary manifestation of the genetic syndrome, not a secondary result of the other manifestations of 22q11.2 deletions. These results suggest that diagnostic screening for the 22q11.2 deletion syndrome should be considered in patients with epilepsy and other signs suggestive of this interstitial deletion syndrome, and have implications for the identification of potential genetic loci for idiopathic epilepsy.
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PMID:Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion. 1526 12

Succinic semialdehyde dehydrogenase deficiency is one of the disorders of GABA metabolism, so it is not surprising that seizures occur as one of the symptoms in affected patients. Other features that are described include delayed development, hypotonia, myopathy with ragged red fibres, abnormal behaviour, and ocular abnormalities. Neonatal problems include prematurity, respiratory difficulties, and hypoglycaemia. The responsible gene has been identified on the short arm of chromosome 6. There are many mutations, and there is poor genotype-phenotype correlation resulting in difficulties in diagnosis. The pathogenesis of the condition is discussed, especially the results of the disturbed GABA catabolism, and the production of the gamma-hydroxybutyric acid. The many properties of this substance suggest it may act as a neurotransmitter or neuromodulator in the brain. The diagnosis may be difficult as the clinical picture is not really suggestive, but the MRI examination can help if it shows abnormalities in the globus pallidus. It will be confirmed by finding an excess of 4-hydroxybutyric acid in the body fluids; and the methods of estimation are discussed. Prenatal diagnosis is possible using a combination of methods. Treatment possibilities are limited. Vigabatrin should be of value as it is an inhibitor of GABA transaminase, but results have been disappointing. Symptomatic treatment may well be needed for control of seizures, abnormal behaviour and other disorders; and special educational needs must be served.
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PMID:Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria). 1534 10

Respiratory syncytial virus is a common cause of acute respiratory infection in children. Previous reports have associated respiratory syncytial virus infection and acute neurologic symptoms, including apnea and seizures. This study examined the prevalence of acute neurologic symptoms associated with respiratory syncytial virus and non-respiratory syncytial virus respiratory infections in children requiring admission to a pediatric intensive care unit. We screened all admissions over a 4-year period at a single center, identifying children between birth and 2 years of age with bronchiolitis or acute upper respiratory infection. Children with a history of prematurity, preexisting medical conditions, or prior neurologic problems were excluded. Retrospective chart review of 236 admissions was conducted, identifying the etiology of respiratory infection and the presence or absence of acute neurologic signs or symptoms. This study demonstrated a prevalence of acute neurologic signs or symptoms in 36.4% of respiratory syncytial virus-negative patients (n = 115) and 39.1% in the respiratory syncytial virus-positive group (n = 121). Apnea, the most common symptom, was observed in 19.8% of respiratory syncytial virus-positive cases and 16.5% of negative patients. Seizures were reported in 6.6% of the positive cases and in 12.2% of the negative cohort. These differences showed no statistical significance. Although neurologic signs and symptoms are common in this population of children with acute respiratory infection, there was no significant difference in the prevalence of neurologic problems between respiratory syncytial virus-positive and -negative patients.
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PMID:Respiratory syncytial virus infection and neurologic abnormalities: retrospective cohort study. 1565 90

Fifty eight neonates who survived birth asphyxia were prospectively studied in the department of Paediatrics, Dhaka Medical College Hospital, to see the incidence of long term neurodevelopmental sequelae among them and also to identify possible risk factors. All of them had been admitted in the Neonatal Unit of this hospital and were born between July 1997 & December 1999. After discharge from the hospital, the study infants were followed up at the Child Neurology Clinic of this hospital. They were seen at 6 weeks. at 3 months & then every 3 months upto 2 years of age for evaluation of growth and development (age corrected for prematurity for preterm babies) 69% of them were boys and 31% were girls. 74% of the babies were inborn in the same hospital & the rest were out born. Prolonged labour (24%) and PET (18.96%) were the most common obstetric factors & respiratory distress (38%) and neonatal convulsion (35%) were the important neonatal complications. Of the 58 enlisted study cases, 30 (51.7%) responded to complete 2 years follow up and the rest were lost. Normal growth and developments were observed in 12 (40%) cases, 7 (23.33%) had mild handicap, 6 (20%) moderate & 5 (16.6%) were left with severe neurodevelopmental handicaps at 2 years of age. 61% of the handicapped children had suffered from neonatal seizure for varying periods. It may be concluded that the response to follow up unsatisfactory, the number of severe handicap was alarmingly high and post asphyxiated seizure was associated with poor outcome. So prevention of perinatal asphyxia should be targeted. Further long term follow up study is required.
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PMID:Long term outcome of birth asphyxiated infants. 1646 66

This report is the second of a two-part evaluation of developmental differences in alpha-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid receptor (AMPAR) subunit expression in cell populations within white matter and cortex. In part I, we reported that, in rat, developmental expression of Ca2+-permeable (GluR2-lacking) AMPARs correlated at the regional and cellular level with increased susceptibility to hypoxia/ischemia (H/I), suggesting an age-specific role of these receptors in the pathogenesis of brain injury. Part II examines the regional and cellular progression of AMPAR subunits in human white matter and cortex from midgestation through early childhood. Similarly to the case in the rodent, there is a direct correlation between selective vulnerability to H/I and expression of GluR2-lacking AMPARs in human brain. For midgestational cases aged 20-24 postconceptional weeks (PCW) and for premature infants (25-37 PCW), we found that radial glia, premyelinating oligodendrocytes, and subplate neurons transiently expressed GluR2-lacking AMPARs. Notably, prematurity represents a developmental window of selective vulnerability for white matter injury, such as periventricular leukomalacia (PVL). During term (38-42 PCW) and postterm neonatal (43-46 PCW) periods, age windows characterized by increased susceptibility to cortical injury and seizures, GluR2 expression was low in the neocortex, specifically on cortical pyramidal and nonpyramidal neurons. This study indicates that Ca2+-permeable AMPAR blockade may represent an age-specific therapeutic strategy for potential use in humans. Furthermore, these data help to validate specific rodent maturational stages as appropriate models for evaluation of H/I pathophysiology.
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PMID:Developmental regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid receptor subunit expression in forebrain and relationship to regional susceptibility to hypoxic/ischemic injury. II. Human cerebral white matter and cortex. 1668 Jul 61

In pregnant women with epilepsy who are being treated with antiepileptic drugs (AEDs), careful clinical management is vital because seizure frequency can change during pregnancy, and both seizure activity and AED treatment can have consequences for the developing fetus. Complications of epilepsy and AED treatment include stillbirths, prematurity, low birth weight, major and minor malformations, and cognitive delay later in life. Certain AEDs probably have more adverse effects than others; data from prospective studies indicate that phenobarbital and valproate are associated with significant increases in major malformations, and retrospective studies show lower verbal IQs and greater need for extra assistance in school for children whose mothers received valproate during pregnancy. Monitoring of AED levels and dosage adjustment are warranted throughout pregnancy, and vitamin K(1) at a dose of 10 mg/day should be given in the last month, particularly when cytochrome P450 enzyme-inducing AEDs are being administered. In the postpartum period, breastfeeding is recommended; however, there is differential transfer of individual AEDs in breast milk, and the infant should be observed clinically. For all women of reproductive age, preconceptual counseling is important, and includes optimization of the AED regimen and advising the mother to take supplemental folic acid.
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PMID:Therapy insight: clinical management of pregnant women with epilepsy. 1693 44

The study design was a case control study to identify the risk factors of febrile seizures. Total sample of 28 children, their ages ranging from 12 to 60 months, with febrile seizure were matched with control group of 60 children of the same age group with fever without seizure. The peak age of first febrile seizure was between 6 and 12 months. The significant risk factors were upper respiratory tract infection (p < 0.05), family history of febrile seizures (p < 0.0001). Prematurity (p < 0.005), problems during gestation (p < 0.005), family history of epilepsy (p < 0.005) and problem during labour (p < 0.0005).
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PMID:Risk factors of febrile seizures among preschool children in Alexandria. 1721 96

Postnatal caffeine treatment of rats can influence brain excitability during development. To study the mechanism involved in the alterations of seizure susceptibility, we used an animal model that corresponds to the infants treated with caffeine for apnea of prematurity. Seizure susceptibility to four convulsant drugs (pentetrazol, picrotoxin, bicuculline and aminophylline) was assessed in 12- and 25-day-old rats exposed to caffeine at a daily dose of 10 and/or 20 mg/kg s.c. at postnatal days 7-11. Our results demonstrated that the changes in generalized tonic-clonic seizures (GTCS) are more expressed than changes in minimal clonic seizures. There are marked differences among individual convulsants with the highest sensitivity of aminophylline-induced seizures and nearly complete resistance of bicuculline-induced seizures. The changes in individual models are age specific: aminophylline- and picrotoxin-induced seizures are more affected in 12- than in 25-day-old rats whereas PTZ-induced seizures are more changed by early postnatal caffeine exposure in 25- than in 12-day-old animal. Taken together, repeated caffeine treatment from postnatal day 7 to 11 reduces the seizure susceptibility during development and this reduction is also model specific.
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PMID:Effects of postnatal caffeine exposure on seizure susceptibility in developing rats. 1743 12

A prospective study was undertaken of 129 children with spastic cerebral palsy to clarify the relationship between magnetic resonance imaging (MRI) findings and clinical features of cerebral palsy. Low birth weight, asphyxia, prematurity, seizures, mental development, Gross Motor Function Classification System, and MRI findings were analyzed. Significant abnormalities relevant to the cerebral palsy were evident on imaging in 123 (95.3%). A similar percentage of MRI abnormalities were detected in the groups, 45 (100%) in patients with tetraplegic cerebral palsy, 37 (92.5%) in children with diplegic cerebral palsy, and 42 (95.4%) with hemiplegic cerebral palsy. Periventricular leukomalacia was detected more frequently in the children with spastic diplegia than in the patients with tetraplegia or hemiplegia. Cerebral atrophy was found more often in the tetraplegic group compared to the diplegic patients. Porencephalic cysts were detected more frequently in children with spastic hemiplegia. Congenital brain anomalies were found in a higher proportion in tetraplegic children. Significant correlations between the MRI findings and Gross Motor Function Classification System in the diplegic and tetraplegic patients were found. No correlations between the MRI results and risk factors for cerebral palsy in the tetraplegic patients were noted. Early detection of brain abnormalities in children with cerebral palsy may help in the prognosis and in the initiation of appropriate therapy
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PMID:Spastic cerebral palsy: clinical magnetic resonance imaging correlation of 129 children. 1760 98

This work was undertaken to elucidate some aspects of the epidemiology of Pneumocystis pneumonia (PP). We studied 42 mechanically ventilated, human immunodeficiency virus (HIV)-negative, severely ill neonates treated at an intensive care unit. The study group included 40 premature neonates and two mature neonates with lethal congenital defects. Progressive respiratory dysfunction in PP necessitated mechanical ventilation. Infection was usually noticeable on the 22nd day of life or after 12 days of ventilation. The usual manifestations included apnea, pallor, copious frothy sputum, seizures, and feeding difficulties. The diagnosis was established by detecting Pneumocystis jiroveci cysts in bronchial lavage fluid specimens (88.1% sensitivity). PP was managed with cotrimoxazole and pentamidine combination therapy administered over 14 days. No clinical improvement was noted in four neonates and three of them died during therapy. Prematurity and protracted mechanical ventilation are two risk factors for P. jiroveci infection in severely ill neonates in an intensive care unit.
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PMID:Prematurity and protracted mechanical ventilation as risk factors for Pneumocystis jiroveci infection in HIV-negative neonates in an intensive care unit. 1790 15


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