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

Although the impact of psycho-social factors on the individual patient with epilepsy has been widely investigated, the influence of the illness on the family as a whole is still underestimated. By means of the Family Assessment Measure (FAM III), a well-validated instrument, we investigated which measurable influence the epilepsy of one child had on the functioning of the families. Data from a group of 72 families with a child suffering from epilepsy (EG), but without any other handicap were analysed and compared with those of 75 families with a child with severe mental retardation (SMG) and 76 control families (CG). Data were gathered through home visits. Only complete families were studied. Results showed that the EG was similar to the SMG in all 3 scales of FAM III, but differed significantly from the CG. In 26% of the families in EG and in 19% of the SMG clear signs of family malfunctioning were found, as compared with 6.5% of the CG. Family disfunctioning in EG was of a greater variety that in SMG. We found that within the EG the type of seizures (41 patients with generalized tonic clonic fits, 10 with complex partial seizures and 21 with absences) did not have any impact on the results. In addition, neither the duration of the illness nor the absolute length of seizure-free periods seemed to matter. Only families who had the subjective feeling that their children were still suffering from epilepsy showed significantly higher rates of family malfunctioning. Summarizing, we found that epilepsy in a child can have a severe impact, not only on his individual life and on the mother-child relationship, but on the functioning of his family as the whole. This fact should be taken into account in the treatment of these children and should influence family counselling, as well.
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PMID:[Function and structure of families with an epileptic child]. 211 9

A patient of pyridoxine dependent seizures was reported. He was born at 34 weeks' gestation and weighted 2,760 g. Apgar scores were 6 and 9 at 1 and 5 minutes, respectively. He showed the first seizure 2 hours after his birth. Phenobarbital, phenytoin, sodium valproate, diazepam and clonazepam were not effective. Pyridoxal phosphate (50 mg) was given intravenously, resulting in suppression of convulsions. However, muscle tonus was severely depressed. In EEG, a discontinuous pattern was found in quiet and indeterminate sleep on the 2nd day of life. At 5th week multifocal spikes were found, and the discontinuous pattern persisted. Ictal discharges at 13th week showed generalized, continuous, irregular and high voltage slow waves with multifocal spikes. At 27th week of life, high voltage slow waves disappeared and multifocal spike discharges decreased. At 2 years and 10 months of age, the patient was suffering from athetotic cerebral palsy and severe mental retardation. Pyridoxal phosphate at the doses of 35-40 mg/kg/day had been administered. Irritability sometimes occurred and additional 50 mg of pyridoxal phosphate controlled this irritability effectively.
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PMID:[Chronological change of EEG findings in a case of pyridoxine dependency seizures]. 222 90

Seizures are a frequent sequela of impaired brain development and can be expected to affect more children with radiation-related brain damage than children without such damage. This report deals with the incidence and type of seizures among survivors prenatally exposed to the atomic bombing of Hiroshima and Nagasaki, and their association with specific stages of prenatal development at the time of irradiation. Fetal radiation dose was assumed to be equal to the dose to the maternal uterus. Seizures here include all references in the clinical record to "seizure," "epilepsy," or "convulsion." Histories of seizures were obtained at biennial routine clinical examinations starting at about the age of 2 years. These clinical records were used to classify seizures as febrile or unprovoked (without precipitating cause). No seizures were ascertained among subjects exposed 0-7 weeks after fertilization at doses higher than 0.10 Gy. The incidence of seizures was highest with irradiation at the eighth through the 15th week after fertilization among subjects with doses exceeding 0.10 Gy and was linearly related to the level of fetal exposure. This obtains for all seizures without regard to the presence of fever or precipitating causes, and for unprovoked seizures. When the 22 cases of severe mental retardation were excluded, the increase in seizures was only suggestively significant and only for unprovoked seizures. After exposure at later stages of development, there was no increase in recorded seizures.
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PMID:Prenatal exposure to ionizing radiation and subsequent development of seizures. 229 44

The Angelman ('happy puppet') syndrome is clinically characterized by severe mental retardation without any development of speech, a happy disposition with paroxysms of laughter, a stiff-atactic gait with arms in flexion and abduction, epileptic seizures, EEG-abnormalities, and some dysmorphic features like prognathism, macrosomia, tongue protrusion and brachycephaly and/or microcephaly. The genetic background is still obscure, but in some patients with this syndrome small deletions in the long arm of chromosome 15 have been found. So further investigation of this probably rather frequent syndrome seems appropriate.
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PMID:[Angelman's happy puppet syndrome]. 237 41

Diagnostic criteria for Rett syndrome (RS) were developed by representatives of the International Rett Syndrome Association and the Centers for Disease Control for use in future clinical and epidemiological studies. Necessary criteria are: normal prenatal and perinatal period; normal psychomotor development through the first 6 months of life; normal head circumference at birth, with subsequent deceleration of head growth; loss of purposeful hand skills; severely impaired expressive and receptive language; apparent severe mental retardation; and gait apraxia and truncal apraxia/ataxia. Supportive criteria include breathing dysfunction, seizures, spasticity, scoliosis, and growth retardation. The diagnosis of RS is considered tentative until 2 to 5 years of age. The differential diagnosis includes other disorders associated with mental retardation, cerebral palsy, and seizure disorders. These diagnostic criteria for RS should foster reliable communication among investigators and enhance the epidemiological and clinical research of this important disorder.
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PMID:Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group. 245 7

A 43-year-old G12P4 mother delivered, at 35 weeks of gestation, a girl with a birth weight of 1980 g. Since her last pregnancy 20 years ago, she had had 8 subsequent abortions. Amniocentesis was done at the 18th week of gestation and revealed negative findings. Because of maternal age, the baby was delivered by cesarean section. The family history was not pertinent. After birth, the baby was noted to have a large head girth (34.5 cm) with widened anterior fontanel and mild frontal protrusion. The neurosonography showed symmetric dilatation of the frontal horns and temporal horns of the lateral ventricles, hyperechodensity in the periventricular wall, absence of corpus callosum and cavum septum pellucidum, and a large communicating pear-shaped ventricular cavity on the posterior coronal view. The brain CT scan demonstrated evidence of extreme dilatation of the occipital horns of the lateral ventricles and prominence of the subarachnoid spaces in the supra-Sylvian fissures. Based on these findings, the baby was diagnosed as a case of colpocephaly. Patients with colpocephaly usually have moderate to severe mental retardation, motor deficits, visual abnormalities and seizures. They need speech and physical therapies as early as possible. Therefore, if early diagnosis is confirmed by fetal sonography before the 5th month of gestation, this congenital brain malformation can be prevented by therapeutic abortion.
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PMID:[Colpocephaly: report of a case]. 259 49

Phenylketonuria (PKU) is a congenital defect involving failure to metabolize phenylalanine to tyrosine because of the absence of phenylalanine hydroxylase. Untreated PKU causes severe mental retardation, musty odor, hyperactivity, seizures, eczema and hypopigmentation. Without therapy, the child may develop with an IQ of less than 20. Restricting dietary phenylalanine before the onset of brain damage is necessary, to maintain the phenylalanine concentration at 3-8 mg/dl. Thirteen thousand three hundred and ninety-seven mentally retarded outpatients, aged 4 months to 24 years, from the year 1963 to 1987 were studied for PKU. Seven patients had positive PKU test by ferric chloride test and Phenistix, six PKU confirmed by paper chromatography. Two PKU by fluorometry and one PKU by amino acid analyzer. The incidence is 1:1,900 mentally retarded patients or 1:1,200,000 population. So, the incidence seems to be lower than in other countries which have neonatal screening for PKU. Because early diagnosis is essential in order to avoid the severe effects of PKU, neonatal screening has become widespread in the U.S., Australia, Great Britain, and other European Countries. The incidence of 1 PKU out of 1:1,200,000 Thai population seems to be not important enough for initiation of a PKU screening program in Thai newborns.
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PMID:The incidence of phenylketonuria in Thailand. 280 57

After reviewing the data of the literature, the authors report their personal series composed of twelve cases. In evaluating the results of surgical treatment only the first ten patients are taken into account. As previously stressed in the literature, callosotomy (total in two cases and anterior in the remainder) has proved effective in abolishing or significantly reducing atonic seizures. Tonico-clonic seizures have also benefitted in some cases, while in complex partial and partial seizures the effects of callosotomy have been so far unpredictable, albeit in some patients all kinds of seizures have been abolished or definitely reduced. The most impressive EEG and neuropsychological features after callosotomy are briefly summarized. Anterior callosotomy seems to be a relatively safe procedure, its results appear to be, on the whole, gratifying even though in patients with severe mental retardation and Lennox-Gastaut syndromes remain controversial.
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PMID:Callosotomy for the management of intractable non-focal epilepsy: a preliminary personal assessment. 292 91

Between April 1980 and March 1986, 19 infants underwent cerebrospinal fluid (CSF) shunting procedures for post-haemorrhagic ventricular dilatation at the Hammersmith Hospital, London. A total of 58 shunt-related procedures have been performed on these children. The major perioperative complication was seizure activity (eight children). Postoperative complications included infection (12 shunts) and blockage (29 shunts). Prophylactic antibiotics failed to prevent shunt infection. The likelihood of the first shunt failing was significantly reduced by greater weight of the infant and lower CSF protein at surgery. Long-term outcome was poor: three have died and another four are quadriplegic with severe mental retardation. Only four children are developmentally normal. These outcomes cannot be related to the shunt surgery or its complications, but correlate best with pre-operative parenchymal brain-lesions, as shown on ultrasound scans.
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PMID:Outcome of infants shunted for post-haemorrhagic ventricular dilatation. 316 86

Two unrelated females, age 15 and 5 years respectively, were studied cytogenetically because of severe mental retardation, seizures and ataxia-like incoordination. A similar deletion of the proximal long arm of chromosome 15 was found in both patients. Re-evaluation showed no voracious appetite or obesity; normal size of hands and feet, minimal to no hypotonia by history or examination and facial features not typical of the Prader-Willi syndrome. However, the facial appearance of the girls was similar to each other with mild hypertelorism. The similarity of these girls and dissimilarity to Prader-Willi syndrome suggest a different syndrome, perhaps the result of deletion of a different segment of 15q. The findings of ataxic-like movements, frequent, unprovoked and prolonged bouts of laughter and facial appearance are more compatible with the diagnosis of Angelman syndrome.
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PMID:Is Angelman syndrome an alternate result of del(15)(q11q13)? 368 21


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