Quality of Life and the Perceived Impact of Epilepsy in Children and Adolescents in the Eastern Province of the Kingdom of Saudi Arabia.

Objectives This cross-sectional study aimed to assess the perceived impact of epilepsy on children and adolescents and analyze its aspects. Materials and methods The study included patients with epilepsy aged between and two and 19 years old in three major hospitals in the Eastern Province of Saudi Arabia. Data were collected through an online survey. Results The mean score percentage of the quality of life (QOL) assessment was 65.6. This study showed better mean score QOL percentages in males (67), adolescents (65), patients with higher family income and socioeconomic status (64), and those living in Al Jubail (71). QOL was negatively associated with seizure frequency, the number of fears, problems, and concerns, and longer treatment duration. The most common concerns in children and adolescents with epilepsy are having/starting a relationship with others and what people at school will think if they have a seizure. The most common problems were lack of concentration and feeling short-tempered or grumpy. Continuing with education was the most common fear for the future. The most common concern of parents/caregivers was their ability to keep up with schoolwork. The QOL of participants who preferred to keep their epilepsy a secret (69) and those who used magazines and books (71) as one of the sources of information was better than that of those who did not. Conclusion Better QOL was found in males, adolescents, patients with higher family income, those living in Al Jubail, who preferred to keep their epilepsy a secret, and those who used magazines and books as sources of information. However, the QOL was negatively associated with seizure frequency, the number of fears, problems, and concerns that the patients/caregivers had, and longer treatment duration.

The role of ketogenic diet in controlling epileptic seizures.

OBJECTIVES: To study the role of the ketogenic diet (KD) in controlling seizures in children with medically resistant epilepsy in Saudi Arabia. METHODS: This retrospective study was conducted in the Pediatric Neurology Clinic at a tertiary care epilepsy center. Thirty-one patients with medically resistant epilepsy were enrolled from 2013 to 2018. The seizure reduction variables were evaluated at 6, 12, 18 and 24 months after enrollment. RESULTS: Of the 31 patients, 14 (45.2%) were males and 17 (54.8%) were females. The most common types of seizures were myoclonic seizures and mixed seizures, both of which occurred in 9 (29%) of the participants. Of the participants, 15 (48.4%) had seizures one to 5 times per day. Six months after starting a KD, 2 (6.45%) of participants were seizure-free; 6 (19.35%) were seizure-free after 12 months of treatment. CONCLUSION: The present study highlighted the effectiveness of KD in medically resistant epilepsy children to local population. A larger cohort is warrant to confirm these findings.

Diagnosis and management of cerebral folate deficiency. A form of folinic acid-responsive seizures.

Folinic acid-responsive seizures (FARS) are a rare treatable cause of neonatal epilepsy. They have characteristic peaks on CSF monoamine metabolite analysis, and have mutations in the ALDH7A1 gene, characteristically found in pyridoxine-dependent epilepsy. There are case reports of patients presenting with seizures at a later age, and with folate deficiency due to different mechanisms with variable response to folinic acid supplementation. Here, we report 2 siblings who presented with global developmental delay and intractable seizures who responded clinically to folinic acid therapy. Their work-up included metabolic and genetic testing. The DNA sequencing was carried out for the ALDH7A1 gene, and the folate receptor 1 (FOLR1) gene. They had very low 5-methyltetrahydrofolate (5-MTHF) in CSF with no systemic folate deficiency and no characteristic peaks on neurotransmitter metabolite chromatogram. A novel mutation in the FOLR1 gene was found. The mutation in this gene is shown to affect CSF folate transport leading to cerebral folate deficiency. The response to treatment with folinic acid was dramatic with improvement in social interaction, mobility, and complete seizure control. We should consider the possibility of this treatable condition in appropriate clinical circumstances early, as diagnosis with favorable outcome depends on the specialized tests.

Dravet syndrome, what is new?

Dravet syndrome (DS) is one of the most severe genetic epilepsies of childhood. Charlotte Dravet described severe myoclonic epilepsy in infancy in 1978. Shortly after the initial report, many cases were published. Most of the cases have the SCN1A mutation. A variant of DS called borderline severe myoclonic epilepsy in infancy has similar clinical and electrographic features without myoclonus. The prevalence of DS is 3-6% of epilepsy cases in infancy, and the incidence is less than one per 40,000 infants. Also, there is a rare mutation in the GABARG2 and SCN1B genes. Usually, affected patients have normal developmental milestones during infancy. Then after 1-4 years of age, they start to develop refractory mixed seizure types (tonic seizures are exceptional) and psychomotor retardation, ataxia, and hyperkinesias. The EEG reveals focal or multifocal epileptic discharges and it commonly shows photosensitivity. The treatment of the seizures is challenging. The combination of stiripentol, valproic acid, clobazam, and topiramate is promising.

West syndrome, can topiramate be on top?

OBJECTIVE: To determine Topiramate efficacy on treatment of infantile spasms and ancillary seizures, and whether there were any improvements on EEG. METHODS: A retrospective study of 18 patients with infantile spasms recruited from the Pediatric Unit at King Fahd Hospital of the University, Dammam University, Saudi Arabia was carried out between January 2004 and December 2008. Topiramate was used as treatment in 7 males and 11 females aged 2-14 months. The maximum dose was 12 mg/kg/day. RESULTS: The etiology in 9 (50%) patients was cryptogenic, 6 (33%) symptomatic, and 3 (17%) idiopathic. After Topiramate treatment 6 (33%) were spasm free, 8 (44%) had ≥50% reduction, 2 (11%) had no change, and one (6%) had worsening of their spasms. Eight patients had ancillary seizures, 2 (25%) were seizure free, 2 (25%) had ≥50% seizure reduction, and 4 (50%) had no change in the ancillary seizure. The EEG showed hypsarrhythmia in 14 (78%). Post Topiramate, the EEG was normal in one (5%), improved in 3 (17%), showed persistent hypsarrhythmia in 8 (44%), and evolved to other features in 3 (17%). Three patients developed side effects such as weight loss and irritability, for which 2 patients stopped the medication. CONCLUSION: Topiramate has a good effect on the clinical features of West syndrome, but not on the EEG. It was tolerated with minimal side effects.

Can Doppler sonography be used to diagnose neonatal cerebral infarction caused by portal vein thrombosis.

Neonatal cerebral infarction is a serious and disabling condition. It is extremely rare if it occurs in association with portal vein thrombosis. We are reporting 2 cases of neonatal cerebral infarction with this etiology. The unique mechanism of cerebral infarction will be discussed. We propose that in the absence of any identifiable cause for the cerebral infarction, portal vein thrombosis should be considered and a Doppler sonography for the portal system is worth carrying out to confirm the diagnosis.

Generic substitution of anti-epileptic drugs. A needed battle?

The clinical and economic consequences of generic antiepileptic drug (AED) substitution are not yet fully understood. Generic substitution may increase pharmacy utilization, but it may not always save health care costs for AEDs. The AEDs are relatively cheap, but high volumes of prescriptions mean that substantial drug-budget savings may be possible by switching from innovator brands to cheaper generic drugs. Such savings have been achieved in many other treatment areas. However, more caution may be needed for epilepsy because of the narrow therapeutic index, low solubility, and non-linear pharmacokinetics of some AEDs. This means that the ranges of bioequivalence that are authorized for generic formulations do not offer the same results regarding effectiveness and safety as those obtained by brand name drugs. This is why seizure control should not be sacrificed on the basis of cost alone, as the major endpoint in treating epilepsy with AEDs is seizure control without adverse effects. Switching to the cheapest generic AED may offer drug-budget savings that outweigh any risk to patient safety. But to date, this cost-benefit analysis has not been carried out. We propose that all changes to established principles of treating epilepsy are evidence based and that the risks of switching are clearly defined.