Biomedical subjects
Publications and source records attributed to R E Appleton.
Sudden, unexpected death in epilepsy (SUDEP) remains a controversial and enigmatic syndrome, particularly in children where the incidence, prevalence and risk factors may, and probably do, differ from adults. This study demonstrates (and further reinforces) the difficulties and inability of retrospective and coroner/death certificate-derived data in identifying the frequency of SUDEP in children.
Metabolic disorders are a relatively uncommon, but important, cause of childhood seizures. Routinely searching for a metabolic disorder in epilepsy is usually unrewarding. Children and adolescents with epilepsy can be selected for appropriate biochemical investigation by considering the seizure type, age of onset, EEG appearance, family history, clinical findings and the results of brain imaging. A limited number of biochemical screening tests can be used to categorize the more common metabolic disorders associated with seizures.
Epilepsy starting in childhood frequently persists through adolescence and into adult life, and an onset in adolescence itself is common. The management of the teenager with epilepsy is important but often inadequate. In 1991, a specific clinic for teenagers with epilepsy was established in Liverpool to address the unique needs and concerns of this age group and, importantly, to facilitate a smooth hand-over of specialist epilepsy care from paediatric to adult services. An additional and crucial benefit of this clinic has been to provide a further, and hopefully final, screen to confirm (or refute) the diagnosis of epilepsy, to corroborate, or correctly identify, the specific epilepsy syndrome and to ensure that the most appropriate antiepileptic drug (AED) is being prescribed and when, if possible, the drug can be withdrawn. Of 120 consecutive patients referred to the teenager clinic, 12 (10%) did not have epilepsy, and 26 (22%) were being treated with an inappropriate AED. The main issues and concerns voiced by the teenagers included choices of further education and career, the possibility and risks of withdrawing anticonvulsants, driving regulations, the inheritance of epilepsy and pregnancy/contraception. This teenager clinic could serve as a model for both other 'epilepsy centres' and also for managing other chronic disorders with an onset in childhood.
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We report the use of repeat electroencephalography (EEG) in the management of 69 patients with childhood-onset absence epilepsy (CAE). Electro-clinical absences were demonstrated in seven children who were felt clinically to have persisting absences. In three of the remaining 62 patients who were thought to be seizure-free, repeat EEG showed electro-clinical absences; revision of AEDs in these three children resulted in clinical and EEG control. EEG is a useful adjunct to the (usual) subjective monitoring of the response to treatment, and should be repeated routinely in all patients with CAE.
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There are a large number of well recognised syndromes comprising cerebellar ataxia in association with other neurological features. We report three family members who presented with a relapsing, early onset cerebellar ataxia, associated with progressive optic atrophy and sensorineural deafness. All three patients have areflexia (in the absence of a peripheral neuropathy), a pes cavus deformity, and show varying degrees of severity. Extensive neurological investigations have been normal, and the aetiology and pathophysiology of this disorder remain unclear. This may represent a separate syndrome of early onset cerebellar ataxia with associated features ("cerebellar ataxia plus"), which is likely to either have an autosomal dominant or maternal mitochondrial pattern of inheritance. The recognition of this association under the acronym of CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural deafness) may help in the delineation of a new syndrome.
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Epilepsy in children is frequently misdiagnosed and inappropriately managed with major medical, social, and educational consequences. The advent of the newer anti-epileptic drugs has paradoxically, and in contrast to what was expected, contributed to a therapeutic confusion, which in certain instances, has perpetuated this unsatisfactory management. The purpose of this paper is to address some of the diagnostic and management issues and outline drug regimens for specific seizures types and epilepsy syndromes. Alternative and surgical therapies, and the treatment of neonatal and 'febrile seizures' and status epilepticus will not be discussed in detail, as these particular aspects fall outside the remit of this paper.
The interpretation of the results of the use of vigabatrin (VGB) in generalized seizures and epilepsies in children has been difficult. Most studies have assessed patients on the basis of both seizure type and epilepsy syndrome and the numbers of patients have been small. Some 'generalized' epilepsy syndromes (specifically the Lennox-Gastaut syndrome) are characterized by multiple seizure types which are frequently not analysed individually in terms of drug response. By contrast West syndrome is easier to evaluate as the spasms are the only, and characteristic, seizure type. Vigabatrin has been used as both add-on, and monotherapy in the treatment of spasms. The results of add-on studies suggest that symptomatic spasms respond best, with 40-100% of children becoming spasm-free and many others showing a reduction in seizures of over 50%. The limited, reported data on VGB-monotherapy in West syndrome have been encouraging with over 50% of patients experiencing a total and sustained control of seizures with minimal or no adverse events; however, the pattern of response (symptomatic cases responding better than cryptogenic cases), has not, as yet, been confirmed. The 'non-progressive' myoclonic epilepsies tend to be exacerbated with 25-50% of patients experiencing an increase in seizure frequency; this is an interesting observation in view of the improvement seen in infantile spasms, which are also classified as a myoclonic seizure. The use of VGB in other generalized seizures and epilepsy syndromes has been neither assessed, nor reported. This reflects the fact that these seizures/syndromes are easily and well controlled using the 'older' anti-epileptic drugs.
Epilepsy, a common childhood condition, is largely managed by general paediatricians. To assess whether recent management guidelines are being met, we undertook a prospective questionnaire-based survey of children with epilepsy, attending the general paediatric out-patient clinic, at the Royal Liverpool Children's Hospital, Alder Hey. Ninety-one children were identified over seven months-giving a prevalence of epilepsy in this out-patient population of 13.7/1000. Fifty-four per cent were diagnosed as having tonic-clonic, 16% partial and 5% typical absence seizures. Forty-two per cent received carbamazepine and 33% sodium valproate, as monotherapy, and 7% were treated with multiple antiepileptic drugs (AEDs). Correlation between AED and seizure type was often inappropriate as was the routine measurement of blood level of AEDs. Correlation between seizure frequency and clinic visits was generally acceptable with those children experiencing frequent seizures attending most often. Specialist paediatric neurologist advice was sought in only 14% of children; 19 of the 28 children with the most poorly controlled seizures were not referred for a specialist opinion. This study has demonstrated a poor understanding of seizure/syndrome classification; the frequent inappropriate use of AEDs and their blood level measurement and inadequate referral for specialist advice. Recognized guidelines are not being followed, nor are standards being met by many general paediatricians. There is a clear indication for more extensive education and the need to provide clear recommendations for the management of epilepsy in children.
Epilepsy in children is frequently accompanied by learning, behavioural and psychological difficulties. These difficulties may be compounded by the ignorance and stigma which exists within the community health care and education services. The management of epilepsy in children therefore extends far beyond the use of antiepileptic drugs and must address these additional problems. The establishment of a nurse specialist service in paediatric epilepsy within our hospital has provided a more satisfactory and comprehensive management of these children and, in addition, has facilitated a close liaison with schools, community health personnel and support groups; as a result this has dispelled much of the local ignorance, misunderstanding and stigma surrounding epilepsy.
Previous research into non-epileptic attack disorder (NEAD) has focused on the individual. We report a teenager with non-epileptic seizures which highlights the importance of the family in the development and maintenance of such attacks. The authors propose that in children and adolescents the focus of therapeutic intervention should be the individual within the context of the family.
Four children with evolving Guillain-Barré syndrome were treated with a five-day course of intravenous immunoglobulin. No patient showed further progression of the condition and all made a rapid and complete recovery with no evidence of relapse over a six- to 24-month follow-up period. The early use of immunoglobulin in this disorder may prevent further progression of the disease and accelerate short-term recovery, with resulting medical, social and financial implications.