The response patterns of infantile spasms to treatments in 156 patients: Hormonal therapy with intravenous synthetic ACTH appears promising.

OBJECTIVES: To report the efficacy of intravenous (IV) synthetic ACTH (Tetracosactide) in the treatment of infantile spasms. METHODS: This is a retrospective chart review of patients with a diagnosis of infantile spasms conducted at the Pediatric Department of King Abdulaziz Medical City (KAMC) in Riyadh, Saudi Arabia, from 01-01-2005 to 31-12-2019. RESULTS: Of the 156 cases, 141 were treated initially with vigabatrin (VGB) with a complete response seen in 42(30%). Synthetic ACTH (Tetracosactide) IV injections were used in a total of 52 cases with response in 25(48%). Of the 35 cases which initially failed with VGB, 20(57%) responded to synthetic ACTH. The injections were used as a first line in 8 cases with response in 6(75%). The response to oral steroids was seen in 4/14(29%) cases. A relapse was seen in 2/42(5%) of patients treated with VGB and in 5/25(20%) of those who were treated with synthetic ACTH. The response was highest in the idiopathic group with 7/7(100%). Epilepsy at 2 years was seen in 26/50(52%) and 50/57(88%) of the responders and non-responders, respectively (p=0.000). Only 14/156(9%) of cases had a fair neurological outcome. All of them were from the responder group CONCLUSION: The response to VGB is suboptimal, while the response to synthetic ACTH is encouraging making it a good alternative for natural ACTH as a potential first line therapy in infantile spasms.

Genomic testing and counseling: The contribution of next-generation sequencing to epilepsy genetics.

INTRODUCTION: Currently, next-generation sequencing (NGS) technology is more accessible and available to detect the genetic causation of diseases. Though NGS technology benefited some clinical phenotypes, for some clinical diagnoses such as seizures and epileptic disorders, adaptation occurred slowly. The genetic diagnosis was mainly based on epilepsy gene panels and not on whole exome and/or genome sequencing. METHOD: We retrospectively analyzed 420 index cases, referred for NGS over a period of 18 months, to investigate the challenges in diagnosing epilepsy. RESULT: Of the 420 cases, 65 (15%) were referred due to epilepsy with one third having a positive family history. The result of the NGS was 14 positive cases (21.5%), 16 inconclusive cases (24%), and 35 (53%) negative cases. No gene has been detected twice in the inconclusive and positive groups. Comparative genomic hybridization has been performed for all 30 NGS negative cases and four cases with pathogenic variants (deletion in 15q11.213.1, deletion of 2p16.3, deletion in Xq22.1, and deletion in 17p13.3) were identified. CONCLUSION: These findings have implications for our understanding of the approach to genetic testing and counseling of patients affected with seizures and epilepsy disorders. The overall diagnostic yield of exome/genome sequencing in our cohort was 23%. The main characteristic is genetic heterogeneity, supporting NGS technology as a suitable testing approach for seizures and epilepsy disorders. Genetic counseling for newly identified disease-causing variants depends on the pedigree interpretation, within the context of disease penetrance and variable expressivity.

The effects of age and gender on the prevalence of insomnia in a sample of the Saudi population.

OBJECTIVES: The aim of this study was to determine the prevalence of insomnia among the Saudi adult population. STUDY DESIGN: A cross-sectional insomnia survey was conducted at King Abdulaziz Medical City (KAMC) in Riyadh, Saudi Arabia. The presence of insomnia was defined by difficulty initiating sleep, early morning awakening, or frequent awakening, in addition to the second-day effect in the form of fatigue, tiredness, or changes in the mode because of lack of sleep. RESULTS: The crude prevalence of insomnia was 77.7% (95% CI = 75.9-79.5%). The gender-adjusted prevalence of insomnia was higher for females, 88.7% (95% CI = 86.4-90.7%) than for males, 70.4% (95% CI = 67.8-72.9%), p-value = .001. The age-adjusted prevalence of insomnia was higher for the elderly, 93.7% (95% CI = 90.6-96.0%) than for the middle aged, 79.8% (95% CI = 77.4-82.1%), or for the young group, 64.2% (95% CI = 59.9-68.4%), p-value = .001. The Chi-square analyses revealed that (1) being elderly, widowed/divorced, females, or housewives, (2) having a lack of education, and (3) excessive tea consumption were significantly associated with elevated risks for insomnia (p-values < .05). CONCLUSIONS: Insomnia is most prevalent among Saudi females and the elderly Saudi population.