From mystery to prevention: sudden unexpected death in epilepsy, time to move on.
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Death, Sudden↗
Biomedical subjects
L Nashef
Publications and source records attributed to L Nashef.
Circumstances of death in sudden death in epilepsy: interviews of bereaved relatives.
OBJECTIVES: To study the circumstances of death in sudden death in epilepsy. METHODS: Self referred bereaved relatives of patients with epilepsy who had died suddenly were interviewed with information obtained substantiated through other sources-namely, coroners' officers' reports, postmortem reports, previous medical records, and EEG reports. RESULTS: Of 34 cases, 26 were classified as sudden unexpected deaths in epilepsy (SUDEP). Twenty four of 26 cases of SUDEP were unwitnessed. Evidence indicative or suggestive of a seizure was found in most. In 11 of 26 the position of the head was such that breathing could have been compromised. Cases included both localisation related and idiopathic primary generalised epilepsy. Only three were in remission at the time of death. Most relatives expressed the view that they would have preferred to have known that epilepsy could be fatal. CONCLUSIONS: Although the deaths in question were largely unwitnessed, the available evidence suggested that most cases of SUDEP represented ictal or postictal seizure deaths, occurring in people with a history of generalised tonic clonic seizures, and in both primary generalised and localisation related epilepsy. These interviews highlight the needs of bereaved relatives and their sense of isolation in the face of an entirely unexpected and apparently unexplained loss.
Adolescent↗
Current issues in the management of epilepsy: the impact of frequent seizures on cost of illness, quality of life, and mortality.
Cost of illness, quality of life (QOL), and sudden unexpected death in epilepsy are disease-related issues that have become increasingly prominent. Because new treatments for epilepsy are now becoming widely available, it is useful to attempt to determine the clinical factors most closely correlated with high disease management costs, excess mortality, and reduced QOL as a basis for considering whether new antiepileptic drugs (AEDs) or AED regimens may favorably influence these aspects of the chronic condition. Findings of recent studies in these diverse areas of epilepsy research indicate that a common clinical factor, seizure frequency, is closely associated with poorer outcomes with respect to cost of illness, QOL, and mortality. To the extent that newer AEDs can provide clinically significant reductions in seizure frequency among patients currently not optimally controlled with AEDs, a meaningful incremental benefit in each of these areas is a reasonable hypothesis. Prospective studies to assess the impact of better seizure control on these important outcomes are warranted.
Adolescent↗
Congenital muscular dystrophy with severe retrocollis and mental retardation: a report of two siblings.
Two siblings with a congenital muscular dystrophy and severe mental retardation which was not due to dystrophin, merosin, or adhalin deficiency are described. These cases overlap with congenital muscular dystrophy of the Fukuyama-type but are less severe. Atypical features include limited facial involvement, retained ambulation, and severe retrocollis.
Adult↗
The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy.
This study reports on a detailed clinical, electrophysiological, muscle computed tomography (CT) and laboratory investigation carried out on five families with definite linkage to chromosome 2p. Some clinical and laboratory features were common to most of the patients, such as the very high serum creatine kinase (CK) levels (mean 43.70 times the normal). The onset was most frequently in the late teens or early twenties with weakness and wasting of the pelvic girdle muscles. All patients had normal motor milestones and had not complained of any symptoms of muscle disease in early childhood. The clinical course was variable both between and within some families, but was most often slowly progressive. Some variability in the pattern of muscle involvement between the different families has also been observed.
Adolescent↗
Sudden unexpected deaths in epilepsy--where are we now?
In people with uncontrolled chronic epilepsy there is an excess mortality directly attributable to the epilepsy itself. This is largely due to accidental and non-accidental deaths occurring during or immediately after seizures. Most sudden unexpected deaths in epilepsy fall within the latter category. To acknowledge rather than conceal these deaths is essential before prevention strategies can be addressed.
Cause of Death↗
Apnoea and bradycardia during epileptic seizures: relation to sudden death in epilepsy.
OBJECTIVE: To record non-invasively ictal cardiorespiratory variables. METHODS: Techniques employed in polysomnography were used in patients with epilepsy undergoing EEG-video recording at a telemetry unit. RESULTS: Apnoea (> 10, range > 10-63, mean 24 s) was seen in 20 of 47 clinical seizures (three secondary generalised, 16 complex partial, and one tonic) and 10 of 17 patients. Apnoea was central in 10 patients, but obstructive apnoea was also recorded in three of 10. Oxyhaemoglobin saturation (SpO2) dropped to less than 85% in 10 seizures (six patients). An increase in heart rate was common (91% of seizures). Bradycardia/sinus arrest was documented in four patients (mean maximum RR interval 5.36, range 2.8-8.6 s) but always in the context of a change in respiratory pattern. CONCLUSION: Ictal apnoea was often seen. The occurrence of bradycardia in association with apnoea suggests the involvement of cardiorespiratory reflexes. Similar mechanisms may operate in cases of sudden death in epilepsy.
Adolescent↗
Felbamate as add-on therapy.
Felbamate is a novel anti-epileptic drug (AED) which has recently been associated with reports of aplastic anaemia and liver failure. We have conducted an open-label add-on assessment of the tolerability and efficacy of this compound in 111 adult patients with refractory epilepsy attending a tertiary referral centre. The mean follow-up period was 4 months (range 1-8 months). Sixty-three (57%) were ongoing, 38 (34%) had discontinued felbamate and a further 10 (9%) were withdrawing. Reasons for discontinuing felbamate were adverse events in 23 (21%), increase in seizures in 11 (10%) and lack of efficacy in 14 (12%). Behavioural disturbances occurred in 14 patients, being the most likely adverse event to result in discontinuation. No cases of aplastic anaemia or liver failure were observed in this group. Felbamate appears to be a broad-spectrum AED. Seven percent of the patients had more than 95% seizure reduction (2 patients were seizure free), whilst a further 13% had significant improvement ( > 50% reduction in seizure frequency). In conclusion, felbamate seems to be an effective AED. In view of its association with potentially life-threatening complications, its use should however be restricted to patients with medically refractory epilepsy.
Adult↗
Sudden death in epilepsy: a study of incidence in a young cohort with epilepsy and learning difficulty.
Sudden death, often seizure related, may occur in patients with epilepsy. Population-based incidence is probably on the order of 1:1,000/year. The incidence is much higher in selected groups, however. We wished to establish the incidence of sudden unexpected death (SUD) in a young cohort with severe epilepsy and learning difficulties. The study cohort included 310 pupils with epilepsy enrolled at a special residential school between April 1970 and April 1993. The follow-up period totaling 4,135 person-years included a period of residence at the school as well as time after leaving. Age and sex standardized overall mortality ratio was 15.9 [95% confidence interval (CI) 10.6-23.0], with 20 of 28 deaths considered epilepsy related. An incidence of sudden death cases of 1:295/year was noted. All 14 sudden deaths occurred when the pupils were not under the close supervision of the school and most were unwitnessed, which has implications for prevention.
Adolescent↗
Incidence of sudden unexpected death in an adult outpatient cohort with epilepsy at a tertiary referral centre.
Overall mortality, incidence of sudden unexpected death, and cause of death were determined in 601 adult outpatients with epilepsy at a tertiary referral centre. The patients were followed up from 1990 to 30 June 1993. There were 24 deaths among the 601 patients (1849 patient years) with a standardised mortality ratio of 5.1 (95% confidence interval 3.3-7.6) of which 14 were related to epilepsy. Underlying disease of which epilepsy was a symptom accounted for four deaths only. An incidence of sudden deaths (including seizure related) was of the order of 1:200/year. In conclusion, excess mortality in chronic epilepsy is more likely to be related to the epilepsy itself than to underlying pathology. The relatively high incidence of sudden deaths found in this hospital based cohort has important implications for patient management.
Adolescent↗
A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p.
The limb-girdle muscular dystrophies are a clinically and genetically heterogeneous group of disorders. We have studied two large inbred families of different ethnic origin and excluded linkage to LGMD2 on chromosome 15q and SCARMD on chromosome 13. Proceeding to a genomic linkage search, we have now identified linkage to markers D2S134 and D2S136 on chromosome 2p (maximum lod score 3.57 at zero recombination). The phenotype in the two families was similar, with onset in the pelvic girdle musculature in the late teens and usually relatively slow progression. This work identifies a second locus for autosomal recessive limb-girdle muscular dystrophy.
Adolescent↗
Acute parkinsonism in suspected herpes simplex encephalitis.
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Adult↗
Hepatitis B serology among the Palestinian population.
A total of 778 blood samples collected from Palestinian subjects between September 1989 and March 1990 were tested for hepatitis B surface antigen (HBsAg) and when negative for antibody to hepatitis B surface antigen (anti-HBs). The emphasis of the survey was on the younger population with 85% of those tested under the age of 30 years. The prevalence of positive markers (HBsAg or anti-HBs) rose progressively with age, being 1% under the age of 5 years and reaching 47% in those aged between 30 and 50 years. The results clearly show that this infection is endemic in our population. A vaccination policy is discussed. The most important finding was the very low prevalence of the infection in those under 5 years of age, indicating the minor role played by perinatal transmission in our community. Thus, an effective immunization programme does not need to target newborns.
Adolescent↗
Screening for mitochondrial cytopathies: the sub-anaerobic threshold exercise test (SATET).
A simple test is described for identifying patients with abnormalities of muscle energy metabolism secondary to mitochondrial dysfunction, based on the venous lactate response to exercise at 90% of predicted work rate at the anaerobic threshold. The test was standardised for age, weight and sex of subjects, and was abnormal in all cases of mitochondrial cytopathy tested, with a false positive rate of 7% in a control population. The test was abnormal in two cases of mitochondrial disease in which muscle biopsy was normal or showed only non-specific changes.
Adult↗
Haemangiopericytic meningioma of the sacral canal: a case report.
A case of haemangiopericytic meningioma of the sacral canal in a 25 year old man, an uncommon tumour at a rare site, is described. The tumour was malignant and largely undifferentiated although there was light and electron microscopic evidence of dual differentiation in areas towards haemangiopericytoma and meningioma. The patient, with cauda equina syndrome, was treated by partial resection and post-operative radiotherapy and remains well 12 months after treatment.
Adult↗
Parkinson's disease: further steps forward.
The results of recent ongoing research in Parkinson's disease are outlined. Aspects discussed include histopathology, dementia, the MPTP animal model, methods of drug delivery, the new D2 agonist (+)-4-propyl-9-hydroxynaphthoxazine (PHNO) and transplantation.
Adrenal Medulla↗