Sudden unexpected death in epilepsy in children: a focused review of incidence and risk factors.

Sudden unexpected death in epilepsy (SUDEP) in children, although rare, needs critical attention given the tragic nature and devastating consequences for families and caregivers. True incidence is unknown and risk factors are not completely understood, more so in children compared with adults. A focused narrative review of available studies on paediatric SUDEP was undertaken to comprehend its risk factors and to develop strategies to recognise and where possible modify SUDEP risk and ultimately reduce incidence. We reviewed 16 population-based studies from various settings. We found overlapping risk factors from different studies. The prime risk factor is uncontrolled seizures. This review supports the view that children entering adolescence with optimal seizure control could be a key aspect in reducing adult mortality related to SUDEP. Ideally, clinicians would want to be able to predict prospective, individualised SUDEP risk, which is challenging due to a myriad of risk factors and an inherent non-homogeneous paediatric epilepsy population. Nevertheless, an adequate evidence base exists as evidenced by this review to support information giving and communication to support young people with epilepsy and their families in being active partners in recognising and reducing their SUDEP risk. More work particularly in the form of prospective studies and registries are needed to further clarify true incidence which may have been previously underestimated and to update risk factors.

A Case of Treatment Resistance and Complications in a Patient with Stiff Person Syndrome and Cerebellar Ataxia.

Background: Antibodies against glutamic acid decarboxylase (GAD) are associated with Stiff Person Syndrome (SPS). Case report: A 50-year-old woman presented with symptoms progressed over 9 years, resulting in a cerebellar ataxia and right upper limb tremor. Investigations revealed elevated serum and CSF anti-GAD antibody titres (98.6 and 53.4 µ/ml, respectively). Treatment included intravenous immunoglobulin and immunomodulation (infliximab and rituximab), improving her stiffness, but with no impact on the ataxia-related symptoms. Subsequent high-dose steroids led to diabetic ketoacidosis and unmasking of an insulin-dependent diabetes mellitus. Discussion: This case illustrates several key features: (1) the combined clinical picture of SPS and cerebellar ataxia is a rare phenotype associated with anti-GAD antibodies; (2) the cerebellar ataxia described was progressive and poorly responsive to immunomodulatory therapy; and (3) the potential for development of further autoimmune sequelae in response to immunosuppression, namely, the development of insulin-dependent diabetes in response to treatment with high-dose oral steroids.

Sudden death in epilepsy: Insights from the last 25 years.

Sudden unexpected death in epilepsy (SUDEP) is the leading cause of mortality in patients with refractory epilepsy, and as such has been a major research focus over the last 25 years. The earliest SUDEP research papers were published in Seizure, as have scores of SUDEP papers since. In this review we discuss the efforts to try and describe the pathophysiological basis of SUDEP, the drive to discover the clinical risk factors that increase the likelihood of SUDEP, and the motivation to increase awareness of SUDEP. These three areas are the prime factors that, when answered, will allow us to better mitigate against SUDEP and help individuals monitor their personal risk. The field has benefited from strong definitions, multinational collaboration, the use of cutting edge genetic analysis, and ensuring that bereaved families are able to take part in research when this is appropriate. Clearly there is much that we do not know and yet, has any area of epilepsy research come so far in the last 25 years?