Health related quality of life in a Saudi population of patients with epilepsy.

OBJECTIVES: To assess the quality of life for epilepsy patients in Saudi Arabia. Epilepsy, one of the most prevalent chronic neurological conditions in the world, frequently results in a low quality of life. METHODS: This cross-sectional study analyzed data between September 2020 and September 2021 from 102 adult patients with epilepsy in outpatient clinics department of Epilepsy Program at King Fahad Medical City compared it to 108 healthy controls during the same study period. Sociodemographics and clinical data were gathered using the Arabic version of the Rand 36-Item Short Form Survey (SF-36) questionnaire and the Quality of Life in Epilepsy Inventory (QOLIE-31). RESULTS: Patients with epilepsy had lower SF-36 scores when compared to the control for role limitation due to physical health, role limitations due to emotional health, and general health. The QOLIE-31 revealed that gender was associated with energy/fatigue (p=0.028), medication effect (p=0.016), and social function (p=0.003); only social functioning showed a significant association (p=0.023) with employment. CONCLUSION: Quality of life for patients with epilepsy was found to be significantly impacted in Saudi Arabia. Certain factors found in this study differentiate it from data that has already been released. This might be due to Arab differences in family support as well as cultural and religious beliefs.

Sleep quality, daytime sleepiness, and insomnia in patient with epilepsy: A single center experience from Saudi Arabia.

OBJECTIVES: To measure the burden of insomnia and daytime sleepiness (DTS) and their effects on sleep quality, and the risk factors of poor quality of sleep. METHODS: We conducted a cross-sectional study of 218 epilepsy patients. We administered well-validated and previously translated questionnaires to assess sleep quality, insomnia, and DTS using the Pittsburgh Sleep Quality Index, Insomnia Severity Index, and Epworth Sleepiness Scale, respectively. RESULTS: Approximately 75% of participants reported poor sleep quality. Moreover, 42.2% did not have insomnia, while 37.6%, 17.9%, and 2.3% had subthreshold insomnia and clinical insomnia of moderate and severe severity, respectively. Roughly 64.2% of participants had normal sleep, 17.8% had an average amount of DTS, and 16.9% and 0.9% may and should seek medical attention, respectively. Compared to normal sleepers, patients with clinical insomnia were 5.45 times likely to experience poor sleep quality, whereas patients with an average amount of DTS and who were recommended to seek medical attention were 6.84 and 44.15 times likely to experience poor sleep quality, respectively. Patients who had seizures every month were 2.51 times likely to experience poor quality sleep, compared to patients who had seizures annually. CONCLUSION: We found a higher prevalence of poor quality of sleep, insomnia, and excessive DTS in our sample of Saudi epilepsy patients.

KCNMA1-related refractory status epilepticus responding to vagal nerve stimulation: Case report and literature review.

Epilepsy, one of the most prevalent chronic neurological diseases, can cause severe morbidity as well as mortality. A mutation of the KCNMA1 gene results in a rare genetic disease that causes epilepsy as its core presentation. Both neurological and non-neurological manifestations have been reported in patients with KCNMA1 gene mutation. We are reporting a KCNMA1 gene variant referred to as c.2369C>T (p. Pro790Leu), which encodes the subunit of alpha of calcium-sensitive potassium channels, which causes epilepsy but not dyskinesia in a young Saudi female who is the daughter of consanguineous parents. Our case shows that calcium-sensitive potassium channels can cause an isolated generalized epilepsy as reported previously in a single case. Moreover, this case aids in delineating the clinical and structural picture and the treatment of the KCNMA1 gene mutation in patients.

Seizure-related injuries in people with epilepsy: A cohort study from Saudi Arabia.

OBJECTIVES: Patients with epilepsy have a high risk of accidents and injuries, resulting in minimized physical activity and social withdrawal. Therefore, we surveyed the prevalence and the types of injuries that patients with epilepsy may endure, and the factors that may increase the risk of injuries. METHODS: In this cohort study, adult and pediatric patients diagnosed with epilepsy (age ≥ 7 years) and a close family member (parents/guardian) attending the outpatient epilepsy clinics at King Fahd Medical City (Riyadh, Saudi Arabia) were interviewed by neurologists. They reviewed the patients' medical records and administered a structured questionnaire to identify and compare several variables, including injury frequency versus seizure type and seizure frequency, number of antiseizure medications used, medication compliance, and work and social limitations. RESULTS: Out of 200 patients, 86 (43%) sustained injuries during an attack of their habitual seizures. Almost half of this group showed a tendency for recurrent injuries. The most common traumas were soft tissue injury (36.5%), head injury (32%), dental injury (8.5%), burns (7%), dislocation (7%), fractures (6.5%), and submersion (2%). Two-thirds of the patients had their injury at home. 64% of patients who had seizures for more than 10 years sustained multiple injuries (P = .003). Injury frequency was higher among patients with daily or monthly seizures (P = .03). 76% of patients who suffered injuries more than twice had generalised tonic-clonic seizures, and genetic generalised epilepsy was encountered more in injured patients (P = .02). Also, patients on polytherapy were more likely than those on monotherapy to have an injury (P = .003). SIGNIFICANCE: Two-fifths of the patients reported seizure-related injuries. The most common were soft-tissue injuries and head traumas, while homes were the most frequent site. In addition, longer epilepsy duration, generalized tonic-clonic seizures, and polytherapy were associated with a higher prevalence of injuries. Therefore, injury prevention strategies should be developed for PWE, especially for those at higher risk.

Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement.

BACKGROUND: Mutations in AFG3L2, a gene encoding a subunit of the mitochondrion m-AAA protease, cause spinocerebellar ataxia type 28 and recessive spastic ataxia type 5. Neuroimaging shows cerebellar atrophy. METHODS: Retrospective review of the patient charts including their clinical evaluation and molecular genetic, neurodiagnostic, and neuroradiological investigations. RESULTS: We describe five members of a large consanguineous family with a severe mitochondrial disease phenotype in the form of regression of the developmental milestones in the first year of life, refractory epilepsy, progressive microcephaly, increased blood lactate, basal ganglia involvement, and premature death. Exome sequencing showed homozygous mutation of the AFG3L2 gene in all individuals: c.1714G>A (p.Ala572Thr). CONCLUSIONS: Our findings add to the phenotypic, neuroradiological, genetic, and biochemical spectrum of AFG3L2 mutations.

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with genetic and clinical heterogeneity. The interplay of de novo and inherited rare variants has been suspected in the development of ASD. Here, we applied whole exome sequencing (WES) on 19 trios from singleton Saudi families with ASD. We developed an analysis pipeline that allows capturing both de novo and inherited rare variants predicted to be deleterious. A total of 47 unique rare variants were detected in 17 trios including 38 which are newly discovered. The majority were either autosomal recessive or X-linked. Our pipeline uncovered variants in 15 ASD-candidate genes, including 5 (GLT8D1, HTATSF1, OR6C65, ITIH6 and DDX26B) that have not been reported in any human condition. The remaining variants occurred in genes formerly associated with ASD or other neurological disorders. Examples include SUMF1, KDM5B and MXRA5 (Known-ASD genes), PRODH2 and KCTD21 (implicated in schizophrenia), as well as USP9X and SMS (implicated in intellectual disability). Consistent with expectation and previous studies, most of the genes implicated herein are enriched for biological processes pertaining to neuronal function. Our findings underscore the private and heterogeneous nature of the genetic architecture of ASD even in a population with high consanguinity rates.