Complicated relationship between autism with regression and epilepsy

We retrospectively evaluated a set of 205 children with autism and compared it to the partial sub-set of 71 (34.6%) children with a history of regression. From 71 children with regression, signs of epileptic processes were present in 43 (60.6%), 28 (65.12%) suffered clinical epileptic seizures, and 15 (34.9%) just had an epileptiform abnormality on the EEG. In our analysis, autistic regression is substantially more associated with epileptic process symptoms than in children with autism and no history of regression. More than 90% of children with a history of regression also show IQ < 70 and reduced functionality. Functionality and IQ further worsens with the occurrence of epileptic seizures (98% of children with regression and epilepsy have IQ < 70). We proved that low IQ and reduced functionality significantly correlate rather with epileptic seizures than just sub-clinical epileptiform abnormality on EEG. Clinical epileptic seizures associated with regression significantly influence the age of regression and its clinical type. The age of regression is higher compared to children with regression without epileptic seizures (in median: 35 months of age in patients with seizures while only 24 months in other patients). Patients with seizures revealed regression after 24th months of age in 68% of cases, while patients without seizures only in 27%. However, coincidence with epilepsy also increased the occurrence of regression before the 18th month of age (23% of patients), while only 4% of patients without epilepsy revealed regression before the 18th month. Epileptic seizures are significantly associated especially with behaviour regression rather than speech regression or regression in both behaviour and speech. Also epileptic seizures diagnosed before correct diagnosis of autism were significantly associated with delayed regression (both behavioural and speech regression).     

13例SCN2A 基因突变相关儿童神经系统疾病表型分析

摘要 目的：总结并分析SCN2A基因突变引起的儿童神经系统疾病相关表型谱特点。方法：采用回顾性研究,收集2018年6月至2021年6月在上海交通大学医学院附属上海儿童医学中心神经内科诊治的患儿,并经二代基因测序检测,纳入SCN2A基因突变者,研究并总结患儿神经系统临床表型特点。结果：共纳入13例SCN2A突变患儿,包括新生突变9例和遗传性突变4例。其中11例患儿伴有癫痫发作,发作年龄为1日龄~1岁11月龄,4例在新生儿期起病 （36%）,1~3 月龄起病2例（18%）,4~12月龄起病2例（18%）,1岁后起病3例（27%）;发作类型中强直阵挛发作、痉挛发作、局灶性发作均各有4例（36%）,阵挛发作1例（9%）。另有2例无癫痫发作的患儿,1例表现为全面性发育迟缓,另一例表现为发育迟缓合并孤独症谱系疾病。11例癫痫患儿中,丛集性发作患儿10例。遗传性突变4例患儿中2例智力、运动发育正常;9例新生突变的患儿中8例伴有运动、智力发育落后,1例发育正常。11例癫痫患儿表型中良性家族性新生儿癫痫1例,新生儿惊厥2例,婴儿痉挛症2例,不能分类的早发性癫痫性脑病3例,儿童期起病的癫痫性脑病2例,热厥附加症1例。结论：SCN2A基因突变引起的儿童神经系统疾病以癫痫表现居多、癫痫表型谱广,少数表现为不伴癫痫发作的发育迟缓和孤独症谱系疾病。     

Epilepsy in the first 10 years of life: findings of the child health and education study.

OBJECTIVES--To identify children with afebrile seizures in a national cohort, classify the seizures, and document progress in the first 10 years of life. DESIGN--Population based birth cohort study. SETTING--The child health and education study, which includes 16,004 neonatal survivors (98.5% of infants born in the United Kingdom during one week of April 1970). SUBJECTS--14,676 children for whom relevant information was available. MAIN OUTCOME MEASURES--Responses to parental and general practitioner questionnaires and hospital records at 5 and 10 years after birth. RESULTS--84 children (42 boys, 42 girls) had had one or more afebrile seizure (incidence 5.7/1000). 63 children (31 boys, 32 girls) had epilepsy (incidence 4.3/1000). 49 of 55 children had a second seizure within a year of the first. The commonest seizure types were tonic-clonic (42) and complex partial (25). A greater proportion of children with complex partial seizures had recurrences. Children who had infantile spasms or a mixed seizure disorder had a poor outcome. All six children who died had symptomatic seizures in the first year, but seizures were not the direct cause of death. CONCLUSIONS--The results of this study are probably representative of seizure patterns in the general population. Outcome after seizures is determined more by the underlying disease than by the seizures themselves.     

Intelligence and physical features of children of women with epilepsy

The teratogenicity of maternal epilepsy has been attributed to several factors, including the antiepileptic drugs taken to prevent seizures during pregnancy, the occurrence of seizures during pregnancy, and the factors in the mother that caused her to have epilepsy. We have addressed the hypothesis that the children of women who have a history of epilepsy (seizure history), but who took no antiepileptic drugs (AED) and had no tonic-clonic seizures in pregnancy, have an increased risk of malformations and diminished intelligence. The frequency of cognitive dysfunction was determined in 57 seizure history and 57 matched control children aged 6-l6 years. The masked evaluation of the children included a physical and neurologic examination and testing with the Wechsler Intelligence Scale for Children-Revised (WISC-R) and a systematic physical examination for the features of the fetal AED syndrome. The evaluation of both parents of each child included a test of reasoning (Ravens Progressive Matrix) and a physical examination. There were no differences between the two groups of children in either IQ scores or physical features; none of the seizure history children was judged to have the "anticonvulsant face" or digit hypoplasia. This study had 80% power to rule out a difference of seven or more IQ points between the two groups, based on a two-sided test at a 5% level of significance. Our confidence in concluding that there was no difference between seizure history and control infants was strengthened by the fact that no statistically significant differences were observed with respect to multiple outcomes, including eight related measures of intelligence. Thirty (53%) of the seizure history mothers resumed taking AED after the birth of the child we evaluated. Additional studies are needed to address the teratogenicity of the antiepileptic drugs as monotherapy.     

儿童癫痫的围产期高危因素分析

目的：研究儿童癫痫相关的国产期高危因素。方法：随访16986例新生儿后期癫痫的患病情况,分为儿童癫痫组与非癞痫组,比较两组各项围产期高危因素,进行单因素与多因素统计分析。结果：随访期内儿童癫痫的发病例数为118例（6．95‰）,癫痫的发病率在1岁以下的儿童最高（27．12％）。儿童癫痫的发生与孕周、高龄产妇、低出生体重、流产史、宫内窘迫、喂养方式、孕期感染、子痫、胎盘早剥、新生儿惊厥都有相关性,并且孕周、子痫和新生儿惊厥是儿童癫痫发生的独立危险因素。结论：儿童癫痫的发生与围产期高危因素密切相关,这对临床儿童癫痫的诊疗可能有提示作用。     

Epileptic dizziness.

Clinical and electroencephalographic features and the response to treatment of 30 patients with episodic dizziness due to epilepsy were noted. The symptom consisted of a brief episode of disequilibrium, often with a sensation of rotation, without evident precipitating factors or sequelae. A history of "absences" or other features suggestive of temporal lobe epilepsy was elicited in over half the patients, and seven (almost a quarter) had had one or more generalized seizures before presentation. Electroencephalography showed a posterior temporal lobe focus in all but two patients, and there was a family history of epilepsy in six. Response to treatment with phenytoin or carbamazepine was good in most patients. Epilepsy should be considered in the differential diagnosis of episodic dizziness or vertigo, especially in young people.     

Clinical course of untreated tonic-clonic seizures in childhood: prospective,hospital based study.

OBJECTIVE: To assess decleration and acceleration in the disease process in the initial phase of epilepsy in children with new onset tonic-clonic seizures. STUDY DESIGN: Hospital based follow up study. SETTING: Two university hospitals, a general hospital, and a children''s hospital in the Netherlands. PATIENTS: 204 children aged 1 month to 16 years with idiopathic or remote symptomatic, newly diagnosed, tonic-clonic seizures, of whom 123 were enrolled at time of their first ever seizure; all children were followed until the start of drug treatment (78 children), the occurrence of the fourth untreated seizure (41 children), or the end of the follow up period of two years (85 untreated children). MAIN OUTCOME MEASURES: Analysis of disease pattern from first ever seizure. The pattern was categorised as decelerating if the child became free of seizures despite treatment being withheld. In cases with four seizures, the pattern was categorised as decelerating if successive intervals increased or as accelerating if intervals decreased. Patterns in the remaining children were classified as uncertain. RESULTS: A decelerating pattern was found in 83 of 85 children who became free of seizures without treatment. Three of the 41 children with four or more untreated seizures showed a decelerating pattern and eight an accelerating pattern. In 110 children the disease process could not be classified, mostly because drug treatment was started after the first, second, or third seizure. The proportion of children with a decelerating pattern (42%, 95% confidence interval 35% to 49%) may be a minimum estimate because of the large number of patients with an uncertain disease pattern. CONCLUSIONS: Though untreated epilepsy is commonly considered to be a progressive disorder with decreasing intervals between seizures, a large proportion of children with newly diagnosed, unprovoked tonic-clonic seizures have a decelerating disease process. The fear that tonic-clonic seizures commonly evolve into a progressive disease should not be used as an argument in favour of early drug treatment in children with epilepsy.     

Ontogeny of absence-like and tonic seizures in the spontaneously epileptic rat

The ontogeny of epileptic seizures in spontaneously epileptic rats (SER; zi/zi, tm/tm) was studied by examining behaviour and electroencephalogram (EEG) simultaneously. Weight gain and survival time were also studied. Compared with the control Kyo:Wistar rats, SER showed a much smaller increase in body weight. All male and female SER died before 20 and 18 weeks of age, respectively. Body tremor was observed at 2 weeks of age but disappeared after 11 weeks. Staggering gait appeared after 7 weeks of age, and intensified with age. Absence-like seizures characterized by paroxysmal appearance of 5-7 Hz spike-wave-like complexes were observed in the cortical or hippocampal EEG after 5 weeks of age, and tonic seizures with low voltage fast waves were observed after 6 weeks of age. All SER exhibited both absence-like and tonic seizures with high frequencies from 12 weeks of age. Differences with other spontaneous rat models of epilepsy and application methods for estimating seizure-inhibitory effects of anti-epileptic drugs are discussed.     

Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy

Childhood absence epilepsy (CAE) accounts for 10% to 12% of epilepsy in children under 16 years of age. We screened for mutations in the GABA(A) receptor (GABAR) beta 3 subunit gene (GABRB3) in 48 probands and families with remitting CAE. We found that four out of 48 families (8%) had mutations in GABRB3. One heterozygous missense mutation (P11S) in exon 1a segregated with four CAE-affected persons in one multiplex, two-generation Mexican family. P11S was also found in a singleton from Mexico. Another heterozygous missense mutation (S15F) was present in a singleton from Honduras. An exon 2 heterozygous missense mutation (G32R) was present in two CAE-affected persons and two persons affected with EEG-recorded spike and/or sharp wave in a two-generation Honduran family. All mutations were absent in 630 controls. We studied functions and possible pathogenicity by expressing mutations in HeLa cells with the use of Western blots and an in vitro translation and translocation system. Expression levels did not differ from those of controls, but all mutations showed hyperglycosylation in the in vitro translation and translocation system with canine microsomes. Functional analysis of human GABA(A) receptors (alpha 1 beta 3-v2 gamma 2S, alpha 1 beta 3-v2[P11S]gamma 2S, alpha 1 beta 3-v2[S15F]gamma 2S, and alpha 1 beta 3-v2[G32R]gamma 2S) transiently expressed in HEK293T cells with the use of rapid agonist application showed that each amino acid transversion in the beta 3-v2 subunit (P11S, S15F, and G32R) reduced GABA-evoked current density from whole cells. Mutated beta 3 subunit protein could thus cause absence seizures through a gain in glycosylation of mutated exon 1a and exon 2, affecting maturation and trafficking of GABAR from endoplasmic reticulum to cell surface and resulting in reduced GABA-evoked currents.     

Vagus nerve stimulation in the treatment of patients with pharmacoresistant epilepsy: our experiences

Vagus nerve stimulation (VNS) for the treatment of refractory partial epileptic seizures with or without secondary generalisation in patients older than 12 years was approved in Europe in 1994 and in the United States in 1997. We have studied the efficacy of VNS in patients with pharmacoresistant epilepsy hospitalized in the Neurology Department of the University Hospital Centre Zagreb. From 1997 to 2001 we have implanted VNS in 11 patients with pharmacoresistant epilepsy, who were magnetic resonance imaging (MRI) negative and from May 2007 to May 2009 in 11 patients with pharmacoresistant epilepsy, 9 of them were MRI positive, and were inoperable due to localisation of the pathomorphologic changes (ganglioglioma, hamartoma, various types of cortical dysplasia, porencephalic cysts), 2 were MR negative. In the group of MRI negative patients 1 patient had complex partial seizures (CPS), 6 patients had CPS with secondary generalisation, 2 patients had primary generalized epilepsy (PGE) including myoclonic, absence, atonic and tonic-clonic seizures, one patient had PGE and CPS, and 3 patients had Lennox-Gastaut syndrome (LGS). In the group of MRI positive patients one patient had elementary partial seizures (EPS) and CPS, two patients had EPS and CPS with secondary generalisation, one patient had CPS, 3 patients had CPS with secondary generalisation, and 2 patients had CPS with secondary generalisation as well as atonic seizures. After continuous follow-up of 11 MRI negative patients during 5 years and 2 MRI negative patients during one year there was decrease in mean-seizure frequency of 51.67%. After continuous follow-up of 9 MRI positive patients during 2 years there was decrease in mean-seizure frequency of 61.9%. The most frequent side effects were hoarseness, throat pain and cough in the "on phase" of the VNS, but they were mild and transitory. We can conclude that VNS was effective mode of therapy in our group of patients with pharmacoresistant epilepsy.     

Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy

Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy: A variety of osteodysplasias are referred to with the term chondrodysplasia punctata (CDP). Here we report on two sibs, a boy and a girl, with probable autosomal recessive form of CDP and epilepsy followed-up for 30 and 19 years, respectively. Family history was unremarkable but for consanguinity. Pregnancies and deliveries were uneventful. At birth, length was 46 (-3SD) and 45 (-4SD) cm, respectively. Craniofacial dysmorphism was noted: severe nasal hypoplasia, flat face, hypertelorism, a low nasal bridge, short stature. Skeletal abnormalities included epiphyseal stippling in the thoracic spine, bilateral proximal and distal humeri, femur, tibia and bilateral carpal and tarsal bones. The boy had a hemivertebrae T12, with absence of a rib. After the age of 6 years facial dysmorphism had improved. Final height was 154 cm (-3SD) in the boy and 158 cm (-0,5SD) in the girl. The boy was operated on for scoliosis. Both sibs had club feet, the girl had also genu valgum. IQ was evaluated to be 55 in the girl and 83 in the boy. The first non febrile generalized seizure appeared in the boy when he was 11 months of age, and in the girl when she was 25 months of age. Both had many other seizures and were taking antiepileptics. EEG were abnormal. Karyotypes were normal. Extensive screening for metabolic disorders was normal. Acquired in utero CDP were excluded. We suggest the sibs described in this report have yet another provisionally unique possibly autosomal recessive syndrome, with CDP and epilepsy as phenotypic traits.     

Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures

SCN1A is the most relevant epilepsy gene. Mutations of SCN1A generate phenotypes ranging from the extremely severe form of Dravet syndrome (DS) to a mild form of generalized epilepsy with febrile seizures plus (GEFS+). Mosaic SCN1A mutations have been identified in rare familial DS. It is suspected that mosaic mutations of SCN1A may cause other types of familial epilepsies with febrile seizures (FS), which are more common clinically. Thus, we screened SCN1A mutations in 13 families with partial epilepsy with antecedent febrile seizures (PEFS+) using denaturing high-performance liquid chromatography and sequencing. The level of mosaicism was further quantified by pyrosequencing. Two missense SCN1A mutations with mosaic origin were identified in two unrelated families, accounting for 15.4% (2/13) of the PEFS+ families tested. One of the mosaic carriers with ~25.0% mutation of c.5768A>G/p.Q1923R had experienced simple FS; another with ~12.5% mutation of c.4847T>C/p.I1616T was asymptomatic. Their heterozygous children had PEFS+. Recurrent transmission occurred in both families, as noted in most of the families with germline mosaicism reported previously. The two mosaic mutations identified in this study are less destructive missense, compared with the more destructive truncating and splice-site mutations identified in the majority of previous studies. This is the first report of mosaic SCN1A mutations in families with probands that do not exhibit DS, but manifest only a milder phenotype. Therefore, such families with mild cases should be approached with caution in genetic counseling and the possibility of mosaicism origin associated with high recurrence risk should be excluded.     

Confirmation of regional assignment of nucleoside phosphorylase (NP) on chromosome 14 by gene dosage studies

Summary Gene dosage studies yielded results consistent with assignment of the locus for nucleoside phosphorylase to band 14q13. The red blood cells from a patient with the karyotype 47,XX,+der(14),t(8;14)(8qter8q24: :14q2114pter)pat had enzyme activity 50% higher than red cells from 47 normal controls, two trisomies involving chromosomes other than 14, and five balanced translocations involving chromosome 14. On the other hand, the red cells of a case with a karyotype 45,XX,-14,-22,+der(22),t(14;22)(14qter14q11 or 14q12::22p1122qter)mat and a case with a karyotype 47,XX, +der(14),t(14;16)(14pter14q11::16q2416qter)mat had normal activity.     

Neurocysticercosis as a Cause of Epilepsy and Seizures in Two Community-Based Studies in a Cysticercosis-Endemic Region in Peru

Background

The prevalence of epilepsy added to inadequate treatment results in chronic morbidity and considerable mortality in poor populations. Neurocysticercosis (NCC), a helminthic disease of the central nervous system, is a leading cause of seizures and epilepsy in most of the world.

Methods

Taking advantage of a cysticercosis elimination program, we performed two community-based cross-sectional studies between 2006 and 2007 in 58 rural communities (population 20,610) to assess the prevalence and characteristics of epilepsy and epileptic seizures in this endemic region. Serological and computed tomography (CT) data in individuals with epilepsy were compared to previous surveys in general population from the same region.

Principal findings

In two surveys, 17,450 individuals were evaluated. Lifetime prevalence of epilepsy was 17.25/1000, and prevalence of active epilepsy was 10.8/1000 inhabitants. The prevalence of epilepsy increased after age 25 years and dropped after age 45. Only 24% (45/188) of patients with active epilepsy were taking antiepileptic drugs, all at sub-therapeutic doses. Antibodies to cysticercosis were found in approximately 40% of individuals with epilepsy in both studies. In one survey only individuals presenting strong antibody reactions were significantly associated with having epilepsy (OR 5.74; p<0.001). In the second, the seroprevalence as well as the proportion presenting strong antibody reactions were both significantly higher in individuals with epilepsy (OR 2.2 and 4.33, respectively). Brain CT showed NCC-compatible images in 109/282 individuals with epilepsy (39%). All individuals with viable parasites on CT were seropositive.

Conclusion

The prevalence of epilepsy in this cysticercosis endemic region is high and NCC is an important contributor to it.     

Epidemiology and Characterization of Seizures in a Pedigreed Baboon Colony

This study evaluated the incidence, prevalence, and clinical features of seizures in a pedigreed captive colony of baboons. The association of seizures with subspecies, age, sex, and various clinical features was assessed. Records for 1527 captive, pedigreed baboons were reviewed, and 3389 events were identified in 1098 baboons. Of these events, 1537 (45%) represented witnessed seizures, whereas the remaining 1852 presented with craniofacial trauma or episodic changes in behavior that were suggestive, but not diagnostic, of seizure activity. Seizures were generalized myoclonic or tonic–clonic, with two thirds of the events witnessed in the morning. Seizure onset occurred in adolescence (age, 5 y), with an average of 3 seizures in a lifetime. The incidence and prevalence of seizures were 2.5% and 26%, respectively, whereas the prevalence of recurrent seizures (that is, epilepsy) was 15%. Seizures were more prevalent in male baboons, which tended to present with earlier onset and more seizures over a lifetime than did female baboons. Seizures were equally distributed between the subspecies; age of onset and seizure recurrences did not differ significantly between subspecies. Clinical features including age of onset, characteristics, and diurnal presentation of seizures in baboons suggested similarities to juvenile myoclonic epilepsy in humans. Facial trauma may be useful marker for epilepsy in baboons, but its specificity should be characterized.The Texas Biomedical Research Institute (Texas Biomed; San Antonio, TX) is home to the Southwest National Primate Research Center, which manages the world''s largest baboon colony, currently comprising about 2500 baboons. Almost 2000 baboons, stretching across 5 to 7 generations and consisting of primarily olive baboons (Papio hamadryas anubis, 64%), yellow baboons (P. h. cynocephalus, 4%), and their hybrids (29%), belong to a pedigreed colony that is widely used for genetic research.²³ Baboons are ideal for the development of genetic models of human disorders due to the many genetic, anatomic, biochemical, and physiologic features shared by humans and baboons.^20,21 Researchers at numerous institutions have used baboons as animal models for a broad range of diseases including diabetes, heart disease, osteoporosis, and chronic infectious illnesses.^12,21Baboons are a natural model of idiopathic generalized epilepsy.⁸ The occurrence of seizures among colony baboons has been noted since the inception of our colony at Texas Biomed more than 50 y ago.⁹ The seizures occur spontaneously or are triggered by ketamine (used for sedation) or other stressors, such as handling or fighting among baboons. Often the seizures are not witnessed, but the baboons are found lying prone on the ground, presumptively having fallen from an elevated structure. These baboons often undergo craniofacial trauma, including periorbital lacerations or bruising, injury to the muzzle or mouth, and broken teeth. Nonetheless, most of these baboons are otherwise healthy, without evidence of developmental delay or focal neurologic deficits. Some baboons with seizures have been reported to be congenitally blind or demonstrate congenital brain damage,⁴ whereas others exhibit seizures as a result of head trauma or infectious diseases. For the most part, however, the baboons with seizures have normal brain anatomy.^8,11,16,19The seizures reported in our baboon colony are typically convulsive, either described as brief generalized myoclonic seizures or tonic–clonic seizures,^17,18 similar to those described in red baboons (P. h. papio)⁸ and humans.³ Previous scalp electroencephalographic studies characterizing epilepsy in the baboon colony demonstrated a high prevalence of generalized interictal epileptic discharges.¹⁷ As is true for P. h. papio, epileptic baboons in our colony are photosensitive (that is, seizures in the animals can be triggered by visual stimuli such as intermittent light stimulation).^9,11,17,18Electroclinical findings suggest that baboons provide an ideal animal model for idiopathic generalized epilepsies in humans. However, little is known about the natural history of epilepsy in baboons. In the current study, we present clinical data regarding the incidence, prevalence, and characteristics of the seizures; their age of onset and tendency to recur; and the effects of epidemiologic factors, including age, sex, and subspecies, on their expression.     

Vagus nerve stimulation in children with mitochondrial electron transport chain deficiencies

We retrospectively investigated outcome data for vagus nerve stimulation (VNS) in children less than 12 years of age with intractable seizures and mitochondrial disease. Five children with a mitochondrial disease, due to electron transport chain deficiency, were studied. Information was collected from clinic visits prior to, and subsequent to, VNS implantation. Data were collected by type and frequency of seizures, encephalogram and neuroimaging findings, and medication history. Four of the children had predominantly myoclonic seizures, while the other child had focal seizures with secondary generalization and myoclonic seizures. All five children did not have significant reduction in seizure frequency with VNS. VNS may not be an effective method to control myoclonic seizures in children with electron transport chain disorders.     

Infantile spasms in children with Down syndrome

Down syndrome (DS) is the most common genetic cause of mental retardation. It is estimated that 5-13% of persons affected by DS have seizures. Infantile spasms are the most common type of seizures and usually are well controlled with steroids and antiepileptic drugs. We present 11 children at the age of 3 years and 4 months to 10 years and 7 months with DS and infantile spasms, treated at Children's Hospital Zagreb from January 2000 until July 2009. Infantile spasms began at the age of 5 to 10.5 months in 10 children, in one child at the age of 16 months. Only one child had perinatal risk factors for the development of IS. Changes in EEG correlated to hypsarrhythmia. Infantile spasms were treated initially with antiepileptic drugs, most often with valproic acid. Treatment was inefficient in 10/11 patients. After application of ACTH, infantile spasms stopped between 7 and 15 days in 6 patients, until 28th day in 4 patients. Hypsarrhythmia vanished in all children. During follow-up period (2 years and 7 months to 9 years and 5 months) none of the children developed another type of seizures. No major epileptogenic changes were registered in EEG. Antiepileptic therapy was discontinued in 4 children (aged 4 years and 2 months to 5 years). In this group is the boy who died of heart failure. Infantile spasms associated with DS are categorized into symptomatic group. The existence of cerebral pathology and delayed psycho-motor development precedes occurrence of seizures. It is possible to achieve good control of seizures and disappearance of hypsarrhythmia with application of ACTH and antiepileptic drugs.     

SEIZURE PROBLEMS IN 250 CEREBRAL PALSIED ADULTS

Seizures occurred at some time in 81 (or 32 per cent) of an unselected, consecutive series of 250 cerebral palsied persons between the ages of 16 and 52 years, an incidence similar to that reported by other investigators in groups of cerebral palsied persons who were mainly children.The incidence of seizures of any kind after 16 years of age in the present series was 10 per cent as compared with 0.5 per cent in the general population. Half of the 10 per cent had more than six convulsions despite drug therapy, and the other half had fewer than six.Of thirty-six who had convulsions in the neonatal period, only four had seizure problems as adults, even though most showed moderate to severe physical handicap after age 16.Data on the small group of paraplegics in the present study, all spastics, were in accord with reports by other investigators with regard to decreased incidence of seizures in cerebral palsied patients with normal upper extremities. Of the thirteen (5 per cent of the 250) whose seizure problems continued to be clinically significant in adult life, ten had had frequent seizures in childhood. Eight were hemiplegic. There appeared to be no relationship between the severity of physical handicap and the incidence of seizures after age 16.     

Contents of antibodies to Bordetella pertussis antigens in patients with rheumatic diseases

Study of presence of antibodies against pertussis in 72 rheumatic patients (with uvenile rheumatoid arthritis, systemic lupus erythematosus, etc.) aged 1-18 year old without history of pertussis was performed. Mean age of the patients was 10.6 +/- 0.48 year old, duration of illness--51.2 +/- 4.42 months. Immunosupressive therapy at the time of the study was conducted in 68 (94.4%) children. Using ELISA method, IgG to pertussis toxin (PT) and to antigens of acellular pertussis vaccine (aPV) were detected in 98.6% and 100% of children. High titers of antibodies were detected more frequently in 7-18 year old age group, which can indicate recent pertussis disease or infection. Vaccination history was studied in 131 children with rheumatic diseases. Incidence of pertussis in 43 unvaccinated children was 116.3 per 1000, and in 16 children with incomplete vaccination--62.5 per 1000. Out of 75 patients, who received vaccination series and revaccination, clinically distinct pertussis was not diagnosed.     

A model for managing epilepsy in a rural community in Africa.

As most Malawians with epilepsy consider treatment of seizures to be the domain of traditional healers and attend hospital only when they require treatment for burns which they suffer during fits, steps were taken to encourage people with epilepsy to attend hospital for regular treatment with anticonvulsant drugs. At first only a few patients attended, but within two years 461 had registered at the hospital and two mobile clinics. Publicity was spread through the area action committee, which was organised by the area chief. The main drug used was phenobarbitone. After treatment was given for six months seizures were fully controlled in 40 (56%) out of 71 patients. A further 20 (28%) had greatly improved. As news of the clinics spread other health units adopted the model, and eventually over 3000 patients with epilepsy were receiving regular treatment at 45 units throughout Malawi.