Autism spectrum disorder (ASD) affects approximately 1.4% of the population and imposes significant social and economic burdens. Because its etiology is unknown, effective diagnosis is challenging. Advancements in structural magnetic resonance imaging (sMRI) allow for the objective assessment of ASD by examining structural brain changes. Recently, machine learning (ML)-based diagnostic systems have emerged to expedite and enhance the diagnostic process. However, the expected success in ASD was not yet achieved. This study evaluates and compares the performance of seven optimized ML models to identify sMRI-based biomarkers for early and accurate detection of ASD in children aged 5 to 10 years. The effect of using hyperparameter tuning and feature selection techniques are investigated using two public datasets from Autism Brain Imaging Data Exchange Initiative. Furthermore, these models are tested on a local Saudi dataset to verify their generalizability. The integration of the grey wolf optimizer with a support vector machine achieved the best performance with an average accuracy of 71% (with further improvement to 71% after adding personal features) using 10-fold Cross-validation. The optimized models identified relevant biomarkers for diagnosis, lending credence to their truly generalizable nature and advancing scientific understanding of neurological changes in ASD.

Introduction COVID-19 has been a gravitating topic in the past months, yet much information about this new virus is to be unraveled. The uncertainties about the virus and its effects have affected a lot of daily life activities. One of these affected activities is emergency department (ED) visits and how this disease might have changed people's perspective on when to go to an emergency. This study aims to assess the effect of the COVID-19 pandemic on emergency department visits for neurological conditions. Methods A retrospective record review study was conducted at King Abdul-Aziz University Hospital (KAUH) during the month of July 2020. The study included visits of patients with common neurological conditions (headache, seizures, and weakness), during December 2019 - May 2020 at KAUH. Information obtained from the medical records included demographic data, date of visit, the reason for the visit, history of a similar episode, number of ED visits during the past year, priority given at the ED, length of hospitalization, diagnosis of COVID-19 at KAUH, known chronic diseases, and whether brain imaging was performed with which kind of imaging. Descriptive analysis was conducted to assess the impact of the pandemic on ED visits and statistical analysis (chi-square test) was performed on ED visit data to assess for significance. Results There was a 24% reduction in the number of visits for common neurological symptoms (during the pandemic) time period in comparison to (pre-pandemic). However, some other variables have also shown an increase (during the pandemic) time period. Most notably, brain CT scans, which underwent an 11.3% increase during the pandemic time period (p=0.005). Some variables have shown no significant change, for example, the relationship between the time period and the reason for the visit (p=0.305). Conclusion Multiple factors most likely contributed to the decrease in emergency department visits recorded in this study. One of the main reasons is the fear of catching COVID-19 infection by just vising the hospitals. Considering these findings, it is predominant to raise awareness when patients do need to go to the emergency department due to an acute neurological condition regardless of any pandemic.

Background:The coronavirus disease 2019 (COVID-19) pandemic has caused overwhelming challenges in healthcare worldwide. During such an outbreak, some needs of high-risk groups who require regular follow-ups and long-term management are not met. The vulnerable populations include patients with Duchenne muscular dystrophy (DMD). Duchenne muscular dystrophy is characterized by respiratory complications caused by muscle weakness. Hence, patients with this condition are at high risk of severe diseases including COVID-19.Methods:To standardize care and provide optimal treatment to DMD patients in Saudi Arabia during the COVID-19 pandemic, a panel of experts including neurologists and pediatricians consolidated recommendations for healthcare professionals and caregivers.Results:During this pandemic, substituting unnecessary clinic visits with virtual clinic services was highly recommended, if possible, without compromising clinical outcomes. Duchenne muscular dystrophy patients with respiratory complications should be closely monitored, and those with cardiovascular complications must continue taking angiotensin-converting enzyme inhibitors or angiotensin receptor blockers. Moreover, individualized home-based rehabilitation management was preferred. Glucocorticoid and new gene correction therapies should be continued. However, new gene correction therapy must be post-poned in newly diagnosed patients. A multidisciplinary decision was required before the initiation of hydroxychloroquine based on the COVID-19 treatment protocol.Conclusion:COVID-19 has caused challenges and transformed access to health care. However, these limitations have provided opportunities for the health care system to adapt. Further, telemedicine has become a reliable platform for follow-up appointments that should be conducted by a multidisciplinary team including physicians, dieticians, and physical therapists.

Brown-Vialetto-Van Laere syndrome (BVVL) is a rare, progressive neurodegenerative disease with fewer than 100 cases reported in the literature. It is characterized by pontobulbar palsy and sensorineural hearing loss.1 The age at onset varies from infancy to early adulthood, commonly presenting with cranial nerve VII–XII palsies and deafness. Other findings include gait ataxia, limb weakness, optic atrophy, epilepsy, and respiratory compromise.1 The genetic etiology of BVVL has recently been linked to mutations affecting the riboflavin transporter genes SLC52A2 and SLC52A3 , which code for human riboflavin transporters RFVT2 and RFVT3, respectively.2 Consequentially, several studies have reported improved clinical outcomes with riboflavin supplementation in patients confirmed to have mutations in the SLC52A2 and SLC52A3 genes.3–7 In this report, we describe a case of BVVL in a 6-year-old girl with dramatic visual recovery and neurologic improvement after delayed initiation of riboflavin supplementation. Consent was obtained from the child's parents.

Introduction: Migraine can occur at any stage of childhood; however, its prevalence increases during school years, affecting various aspects of life, including daily routines and school attendance. Objective: To evaluate the quality of life (QOL) in children and adolescents with migraines. Methods: This cross-sectional study was conducted at several specialized pediatric neurology clinics between 2020 and 2023. Participants were provided with an online questionnaire. The validated Pediatric Quality of Life Inventory (PedsQL) for parental reports was applied to evaluate QOL, covering four dimensions: physical, emotional, social, and school functioning. Results: In total, 109 eligible patients were identified, yielding an estimated prevalence of 5.45%. The study population comprised 51% males, with a mean age of onset of 9 ± 3 years. The mean total PedsQL score across all dimensions per participant was 76 ± 17 points. Significant associations were observed for age (P = 0.02), adherence to dietary recommendations (P = 0.01), and hours spent playing video games per day (P = 0.02) on the total PedsQL score. Conclusion: Children and adolescents with migraines exhibit a reduced QOL, particularly in the emotional and school functioning domains. These findings underscore the importance of early screening and management of migraines in pediatric patients.

Background: In 1978, Charlotte Dravet first described a form of epilepsy termed Dravet syndrome (DS). It is a form of genetic epilepsy with early-onset, intractable epilepsy episodes, and neurodevelopmental delay. In children, DS can lead to refractory seizures that are resistant to standard therapy. Recently, perampanel (PER) was approved as an antiepileptic drug for patients as young as 4 years old. Methods: The medical records were retrospectively reviewed and patients with DS who used PER were included in this study. The diagnosis was established using whole-exome sequencing, and the collected data included the patients’ demographic characteristics, seizure pattern, PER dosage, laboratory and imaging findings. Results: This study included 18 pediatric patients with a clinical diagnosis of DS. The mean age of PER initiation was 7.67±3.865. Most patients had two types of seizures (61.1%) followed by three types (22.2%), with generalized tonic-clonic being the most frequently reported type of seizure. The mean efficacy of PER was 29.17%±29.368%, and only one patient had an efficacy of 100%. Moreover, patients aged 8 years and younger presented with higher efficacy than those who were older (49.17%±34.120% vs. 19.17%±21.829%, P=0.03). Conclusions: This study presented supporting evidence of the promising therapeutic effect of PER among patients with DS. PER can be considered one of the treatment options for this group of patients. However, several patients presented with unfavorable side effects that led to medication cessation. Future multicenter studies are required to explore further treatment options for patients with DS.