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1.
Front Pediatr ; 12: 1377515, 2024.
Article in English | MEDLINE | ID: mdl-38745833

ABSTRACT

Background: Brown-Vialetto-Van Laere (BVVL) syndrome is an extremely rare autosomal recessive progressive motoneuron disease that is caused by a defect in the riboflavin transporter genes SLC52A2 and SLC52A3. BVVL syndrome has a variable age of presentation, and it is characterized by progressive auditory neuropathy, bulbar palsy, stridor, muscle weakness, and respiratory compromise secondary to diaphragmatic and vocal cord paralysis. BVVL syndrome has a poor prognosis in the absence of treatment, including morbidity with quadriparesis and sensorineural hearing loss, with mortality in the younger age group. Early administration of riboflavin is associated with prolonged survival, low morbidity, and reversal of some clinical manifestations. Case presentation: We describe an 18-month-old male infant with progressive pontobulbar palsy, loss of developmental milestones, and a clinical picture suggestive of chronic inflammatory demyelinating neuropathy. A nerve conduction study revealed axonal neuropathy, while molecular analysis revealed a homozygous mutation in one of the riboflavin transporter genes, SLC52A3, confirming BVVL syndrome. The patient needed long-term respiratory support and a gastrostomy tube to support feeding. With high-dose riboflavin supplementation, he experienced moderate recovery of motor function. Conclusion: This report highlights the importance of considering BVVL syndrome in any patient who presents with the clinical phenotype of pontobulbar palsy and peripheral axonal neuropathy, as early riboflavin treatment may improve or halt disease progression, thus reducing the associated mortality and morbidity.

2.
Pediatr Neurol ; 155: 149-155, 2024 Mar 07.
Article in English | MEDLINE | ID: mdl-38653183

ABSTRACT

BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) represent a heterogeneous group of inherited metabolic lysosomal disorders characterized by neurodegeneration. This study sought to describe the clinical and molecular characteristics of NCLs in Saudi Arabia and determine the most common types in that population. METHODS: A retrospective review of electronic medical records was conducted for 63 patients with NCL (55 families) from six tertiary and referral centers in Saudi Arabia between 2008 and 2022. Clinical, radiological, and neurophysiological data as well as genetic diagnoses were reviewed. RESULTS: CLN6 was the predominant type, accounting for 45% of cases in 25 families. The most common initial symptoms were speech delay (53%), cognitive decline (50%) and/or gait abnormalities (48%), and seizure (40%). Behavioral symptomatology was observed in 20%, whereas visual impairment was less frequently (9.3%) encountered. Diffuse cerebral and cerebellar atrophy was the predominant finding on brain magnetic resonance imaging. Electroencephalography generally revealed background slowing in all patients with generalized epileptiform discharges in 60%. The most common genotype detected was the p.Ser265del variant found in 36% (20 of 55 families). The most rapidly progressive subtypes were CLN2 and CLN6. Two patients with each died at age five years. The earliest age at which a patient was nonambulatory was two years in a patient with CLN14. CONCLUSIONS: This is the largest molecularly confirmed NCL cohort study from Saudi Arabia. Characterizing the natural history of specific NLC types can increase understanding of the underlying pathophysiology and distinctive genotype-phenotype characteristics, facilitating early diagnosis and treatment initiation as well as genetic counseling for families.

3.
Seizure ; 117: 174-182, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38432081

ABSTRACT

Despite the availability of international recommendations for the management of Infantile Epileptic Spasms Syndrome (IESS), there is a lack of recommendations adapted to the local context of clinical practice of pediatric neurology in the Gulf Cooperation Council (GCC) countries. By an initiative from the Saudi Pediatric Neurology Society (SPNS), a literature review was performed and an expert panel comprised of 13 pediatric neurologists from all GCC countries (Saudi Arabia, Kuwait, Bahrain, Oman, Qatar, and the United Arab Emirates) was subsequently convened to discuss all issues related to the management and diagnosis practices of IESS in the GCC. The overall aim of this consensus document was to develop practical recommendations to support the care of patients with IESS in the GCC and to reflect on how clinical management approaches compare with those adopted internationally.


Subject(s)
Consensus , Spasms, Infantile , Humans , Spasms, Infantile/diagnosis , Spasms, Infantile/therapy , Infant , Middle East , Anticonvulsants/therapeutic use , Disease Management , United Arab Emirates
4.
Cureus ; 15(9): e45447, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37859891

ABSTRACT

Objectives The objectives of this study were to measure the prevalence of social anxiety disorder and its association with quality of life (QoL) in patients with epilepsy (PWE) in King Khalid University Hospital, Riyadh City, Saudi Arabia. Methodology A self-administrated, online, questionnaire-based, cross-sectional study was conducted at King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia on PWE 18 years of age and above from February 2021 to January 2022. Social anxiety and the five domains of QoL were measured using the validated Arabic versions of the Liebowitz social anxiety scale and European quality-of-life 5-dimensions 3-levels (EQ-5D-3L), respectively. Information was collected on sociodemographic characteristics, social support, and adverse life events. Results This study included 246 patients, of which approximately 25% and 15% had mild/moderate and severe/very severe levels of social anxiety, respectively. Severe social anxiety was significantly associated with poor QoL domains, namely, restricted mobility (2.65 [1.00, 6.99]), inability to perform usual activities (3.88 [1.61, 9.36]), pain or discomfort (3.21 [1.38, 7.48]), and anxiety and depression (5.77 [2.45, 13.61]). Similarly, the lack of social support was also significantly associated with poor QoL, such as restricted mobility (2.42 [1.12, 5.22]), restricted self-care (3.64 [1.18, 11.17]), inability to perform usual activities (2.86 [1.42, 5.75]), pain/discomfort (2.53 [1.38, 4.66]), and anxiety and depression (1.93 [1.04, 3.57]). Females showed higher odds for restricted mobility (2.79 [1.29, 6.03]) and low education with limited self-care (7.38 [1.49, 36.71]). Conclusion Patients with epilepsy reported high levels of social anxiety that have a negative effect on their QoL. Healthcare providers should be able to provide counseling to the patient and their family members. In addition, social support is important to improve their mobility and socialization with friends and neighbors.

5.
Children (Basel) ; 10(8)2023 Aug 01.
Article in English | MEDLINE | ID: mdl-37628333

ABSTRACT

BACKGROUND: Despite the high consanguinity rates, data on genetic epilepsy in Saudi Arabia is limited. The objective of the current study was to characterize genetic mutations associated with epilepsy in pediatric patients and describe their phenotypic presentations. METHODS: A retrospective chart review was conducted among children presented with epilepsy in one center in Saudi Arabia between 2015 and 2018. Only those who had undergone genetic testing were included. RESULTS: A total of 45 patients had positive whole-exome sequencing (WES) genetic testing with 37 mutations. Six mutations (SCN1A, DENND5A, KCNQ2, ACY1, SCN2A, and PCDH19) were repeated in 15 patients, with largely heterogeneous phenotypic presentations in patients with the same mutation. Several mutations are reported for the first time in Saudi Arabia. The median age at epilepsy onset was four months. Consanguineous parents and family history of epilepsy were frequent (31.8% and 33.3%, respectively). Developmental delay (44.4%), cognitive delay (42.2%), language delay (40.0%), behavioral features (28.9%), and microcephaly (20.0%) were frequent presentations. At initial diagnosis, 68.9% of EEG and 48.9% of brain MRI were abnormal. The most currently used antiseizure medications (ASMs) were levetiracetam (48.9%), topiramate (28.9%), and valproic acid (20.0%). Approximately 60% of the patients were controlled with (47.6%) or without (11.9%) ASMs, and three (7.1%) patients died. CONCLUSIONS: Multiple mutations among children with epilepsy are reported in one hospital in Saudi Arabia, with the majority reported for the first time. The current findings highlight the importance of doing genetic testing for the evaluation of childhood epilepsy.

7.
Mol Genet Metab ; 139(3): 107624, 2023 07.
Article in English | MEDLINE | ID: mdl-37348148

ABSTRACT

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive genetic disorder affecting the biosynthesis of dopamine, a precursor of both norepinephrine and epinephrine, and serotonin. Diagnosis is based on the analysis of CSF or plasma metabolites, AADC activity in plasma and genetic testing for variants in the DDC gene. The exact prevalence of AADC deficiency, the number of patients, and the variant and genotype prevalence are not known. Here, we present the DDC variant (n = 143) and genotype (n = 151) prevalence of 348 patients with AADC deficiency, 121 of whom were previously not reported. In addition, we report 26 new DDC variants, classify them according to the ACMG/AMP/ACGS recommendations for pathogenicity and score them based on the predicted structural effect. The splice variant c.714+4A>T, with a founder effect in Taiwan and China, was the most common variant (allele frequency = 32.4%), and c.[714+4A>T];[714+4A>T] was the most common genotype (genotype frequency = 21.3%). Approximately 90% of genotypes had variants classified as pathogenic or likely pathogenic, while 7% had one VUS allele and 3% had two VUS alleles. Only one benign variant was reported. Homozygous and compound heterozygous genotypes were interpreted in terms of AADC protein and categorized as: i) devoid of full-length AADC, ii) bearing one type of AADC homodimeric variant or iii) producing an AADC protein population composed of two homodimeric and one heterodimeric variant. Based on structural features, a score was attributed for all homodimers, and a tentative prediction was advanced for the heterodimer. Almost all AADC protein variants were pathogenic or likely pathogenic.


Subject(s)
Amino Acid Metabolism, Inborn Errors , Aromatic-L-Amino-Acid Decarboxylases , Humans , Prevalence , Dopamine/metabolism , Genotype , Amino Acid Metabolism, Inborn Errors/epidemiology , Amino Acid Metabolism, Inborn Errors/genetics , Amino Acids/genetics
8.
Children (Basel) ; 9(11)2022 Nov 05.
Article in English | MEDLINE | ID: mdl-36360424

ABSTRACT

BACKGROUND: Vitamin D has a role in the pathogenesis of many medical disorders, especially those of the central nervous system. It is essential in maintaining the bone health of children. However, patients with epilepsy are at high risk of developing vitamin D deficiency due to antiseizure medications (ASMs). Therefore, we aimed to assess the prevalence of vitamin D deficiency and related risk factors in children with epilepsy. METHODS: This is the baseline report of a pragmatic, randomized, controlled, open-label trial that assessed the impact of vitamin D supplementation in preventing vitamin D deficiency (NCT03536845). We included children with epilepsy aged 2-16 years who were treated with ASMs from December 2017 to March 2021. Children with preexisting vitamin D metabolism problems, vitamin-D-dependent rickets, malabsorption syndromes, renal disease, and hepatic disease were excluded. The baseline demographic data, anthropometric measurements, seizure types, epilepsy syndromes, ASMs, and seizure control measures were recorded. Blood tests for vitamin D (25-hydroxyvitamin D [25(OH)D), serum calcium, serum phosphorus, and parathyroid hormone levels were performed. Based on vitamin D concentration, patients were categorized as deficient (<50 nmol/L), insufficient (74.9-50 nmol/L), or normal (>75 nmol/L). RESULTS: Of 159 recruited children, 108 (67.92%) had generalized seizures, 44 (27.67%) had focal seizures, and 7 (4.4%) had unknown onset seizures. The number of children receiving monotherapy was 128 (79.0%) and 31 (19.1%) children were receiving polytherapy. The mean vitamin D concentration was 60.24 ± 32.36 nmol/L; 72 patients (45.28%) had vitamin D deficiency and 45 (28.3%) had vitamin D insufficiency. No significant difference in vitamin D concentration was observed between children receiving monotherapy and those receiving polytherapy. The main risk factors of vitamin D deficiency were obesity and receiving enzyme-inducer ASMs. CONCLUSIONS: The prevalence of vitamin D deficiency was high among children with epilepsy. Obese children with epilepsy and those on enzyme-inducer ASMs were at increased risk for vitamin D deficiency. Further studies are needed to establish strategies to prevent vitamin D deficiency.

9.
Front Public Health ; 10: 992658, 2022.
Article in English | MEDLINE | ID: mdl-36238239

ABSTRACT

Introduction: The COVID-19 pandemic revealed a multidimensional impact on mental health due to health concerns, social distancing and lockdowns, job loss, and limits in institutional support. Accordingly, COVID-19 may disproportionally impact families with special educational needs and disabilities (SEND) due to the already high prevalence of mental health conditions in children with SEND and their parents. Hence, it is essential to determine the short-term impact of the pandemic on the mental health of families with SEND to identify their ongoing health, including psychological wellbeing and support needs. The current study examines the anxiety level and concerns of children with SEND and their parents living in Saudi Arabia. Methodology: A cross-sectional national study design was utilized as a part of an international consortium using an online Arabic survey. Data were collected from the Ministry of Human Resources and Social Development beneficiaries from May to July 2020. The sample consisted of 1,848 parents of children with SEND aged between 1 and 18 years (mean = 9.66; SD = 4.31). A descriptive and bivariant analysis is reported. Results: Parental worries on all those concerns when the pandemic started were significantly higher than before the pandemic, p < 0.050. Parental-perceived general anxiety had risen significantly across time, p < 0.001, and their perceived anxiety when the pandemic started exceeded their anxiety before the pandemic, p < 0.001. The general anxiety of children with SEND had risen significantly across time (from before the pandemic to when it had started to during the pandemic), p < 0.001. The children's general worries at the start of the pandemic had correlated significantly and positively with their anxiety, adaptive, maladaptive, and coping efficacies, and parental anxiety scores, p < 0.010 each. Conclusion: Anxiety levels were high in SEND and their caregivers before and during COVID-19. At the start of the pandemic, the anxiety, adaptive, maladaptive, coping efficacies, and parental anxiety scores of children with SEND were significantly and favorably correlated. These findings support the notion of SEND-specific anxiety and patterns of coping in SEND and their caregivers. The notion also attests to the institutional support required for this specifically vulnerable population during epidemics.


Subject(s)
COVID-19 , Adolescent , COVID-19/epidemiology , Child , Child, Preschool , Communicable Disease Control , Cross-Sectional Studies , Humans , Infant , Mental Health , Pandemics , Saudi Arabia/epidemiology
10.
Neurosciences (Riyadh) ; 27(4): 244-250, 2022 Oct.
Article in English | MEDLINE | ID: mdl-36252977

ABSTRACT

OBJECTIVES: To investigate seizure characteristics, types, and define the etiology of epilepsy in children aged ≤2 years using the 2017 ILAE classification. METHODS: A retrospective chart review was conducted at King Khalid University Hospital, King Saud University Medical City, Riyadh, Kingdom of Saudi Arabia for children below 2 years of age diagnosed with epilepsy, and on anti-seizure medications from January 2017 - December 2018. The collected data involved detailed information on the patients' seizure, electroclinical, neuroimaging, laboratory evaluations, and underlying etiology. RESULTS: One- hundred and fifty patients were included in the study and classified according to etiology into: genetic (43, 28.7%), structural (41, 27.3%), metabolic (10, 6.7%), infectious (8, 5.3%), immune-mediated (1, 0.7%) and unknown (47, 31.3%) groups. The most common seizure types were generalized epilepsy, among which generalized tonic-clonic seizures occurred in 56 (37%) patients, followed by tonic seizures in 31 (21%), infantile spasm in 19 (13%), myoclonic seizures in 4 (2.7%), atonic seizures in 6 (4%), and focal seizures in 33 (22%) patients. Global developmental delay and abnormalities in both neurologic exam and neuroimaging were more common in the structural and genetic groups. Electroencephalography was abnormal in 82 (55%) patients, including the majority of the structural group (26, 63.4%). CONCLUSION: The etiology of epilepsy in this cohort remains undetermined (unknown) in a large proportion of cases, followed by genetic and structural causes. This result added to the published international data about epilepsy in the first 2-years of life.


Subject(s)
Epilepsies, Myoclonic , Epilepsy, Generalized , Epilepsy , Child , Child, Preschool , Electroencephalography , Epilepsies, Myoclonic/diagnosis , Epilepsies, Myoclonic/drug therapy , Epilepsies, Myoclonic/genetics , Epilepsy/epidemiology , Epilepsy/etiology , Humans , Retrospective Studies , Seizures , Tertiary Healthcare
11.
Front Pediatr ; 10: 1020059, 2022.
Article in English | MEDLINE | ID: mdl-36275069

ABSTRACT

Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder that is characterized by progressive muscle weakness, resulting in disability and premature death. Onset of symptoms typically occurs at 2-3 years of age, and disease progression is managed through treatment with corticosteroids. The aim of this interim analysis is to increase disease awareness and improve patient management in Saudi Arabia (SA) through the use of data from an ongoing ambispective, observational, multicenter study evaluating characteristics of patients aged 1-14 years with genetically confirmed DMD in SA. This interim analysis examined the secondary outcomes from the study-the demographics and clinical characteristics of patients included retrospectively [data recorded (enrollment visit) between January 2014 and September 2020] and prospectively between September 2020 and April 2021. The primary outcome-the list of DMD gene mutations for the study population-will be reported at a later date. There were 177 eligible patients. Mean, standard deviation (SD) age at enrollment was 7.5 (3.0) years. Median (min, max) age at diagnosis was 7.0 (1.3, 13.8) years. At enrollment, 28.9% of patients were full-time wheelchair users, 50.0% of ambulatory patients could run, and 63.9% could climb stairs. The mean (SD) ages of patients at enrollment who were unable to run and climb stairs were 8.0 (2.7) and 7.6 (3.0) years, respectively. Speech delay (19.4%) and learning difficulties (14.9%) were the most commonly reported intellectual impairments. Physical therapy (84.2%) was the most common choice for initial management of DMD. Only 40.7% of patients received corticosteroid therapy as part of their initial management plan, rising to 59.1% at enrollment. Devices were given to 28.8% of patients for initial management, most commonly ankle-foot orthoses (26.0%) and wheelchairs (6.2%). This analysis reports data from the largest study to date to capture demographics and clinical characteristics of DMD patients in SA. The interim results show a relatively late DMD diagnosis age compared with that in other countries, and a need for improved adherence to international DMD standard of care guidelines. Therefore, there is an urgent requirement for improved DMD education and awareness among healthcare professionals and the public in SA.

12.
Children (Basel) ; 9(9)2022 Sep 01.
Article in English | MEDLINE | ID: mdl-36138644

ABSTRACT

IMPORTANCE: Hypermanganesemia with dystonia type 2 is a rare autosomal recessive neurodegenerative disorder characterized by the loss of previously acquired milestones, dystonia, parkinsonian features, a high serum manganese level, and characteristic neuroimaging findings such as bilateral and symmetrically increased T1 and decreased T2/fluid-attenuated inversion recovery signal intensity in the basal ganglia. This condition is secondary to a mutation in the SLC39A14 gene. OBJECTIVE: To present a series of three cases of hypermanganesemia with dystonia type 2, which was genetically confirmed secondary to a mutation in the SLC39A14 gene, and to describe the treatment and clinical course in these cases. DESIGN: A retrospective case series. SETTING: University, Tertiary hospital. PARTICIPANTS: Three unrelated pediatric patients with hypermanganesemia with dystonia type 2, genetically confirmed to be secondary to a mutation in the SLC39A14 gene. EXPOSURES: Chelation therapy using calcium disodium edetate. MAIN OUTCOME(S) AND MEASURE(S): The response to chelation therapy based on clinical improvements in motor and cognition developments. RESULTS: All three patients were started on chelation therapy using calcium disodium edetate, and two of them showed an improvement in their clinical course. The chelation therapy could alter the course of the disease and prevent deterioration in the clinical setting. CONCLUSIONS AND RELEVANCE: Early diagnosis and intervention with chelating agents, such as calcium disodium edetate, will help change the outcome in patients with hypermanganesemia with dystonia type 2. This finding highlights the importance of early diagnosis and treatment in improving the outcomes of patients with treatable neurodegenerative disorders.

13.
Children (Basel) ; 9(7)2022 Jul 14.
Article in English | MEDLINE | ID: mdl-35884034

ABSTRACT

BACKGROUND: Autism spectrum disorder (ASD) is a multifaceted neurodevelopmental disorder requiring multimodal intervention and an army of multidisciplinary teams for a proper rehabilitation plan. Accordingly, multiple practice guidelines have been published for different disciplines. However, systematic evidence to detect and intervene must be updated regularly. Our main objective is to compare and summarize the recommendations made in the clinical practice guidelines (CPGs) for ASD in children released from November 2015 to March 2022. METHODS: CPGs were subjected to a systematic review. We developed the inclusion and exclusion criteria and health-related questions, then searched and screened for CPGs utilizing bibliographic and CPG databases. Each of the CPGs used in the study were critically evaluated using the Appraisal of Guidelines for REsearch and Evaluation II (AGREE II) instrument. In a realistic comparison table, we summarized the recommendations. RESULTS: Four eligible CPGs were appraised: Australian Autism CRC (ACRC); Ministry of Health New Zealand (NZ); National Institute for Health and Care Excellence (NICE); and Scottish Intercollegiate Guidelines Network, Healthcare Improvement Scotland (SIGN-HIS). The overall assessments of all four CPGs scored greater than 80%; these findings were consistent with the high scores in the six domains of AGREE II, including: (1) scope and purpose, (2) stakeholder involvement, (3) rigor of development, (4) clarity of presentation, (5) applicability, and (6) editorial independence domains. Domain (3) scored 84%, 93%, 86%, and 85%; domain (5) 92%, 89%, 54%, and 85%; and domain (6) 92%, 96%, 88%, and 92% for ACRC, NICE, NZ, and SIGN-HIS, respectively. Overall, there were no serious conflicts between the clinical recommendations of the four CPGs, but some were more comprehensive and elaborative than others. CONCLUSIONS: All four assessed evidence-based CPGs demonstrated high methodological quality and relevance for use in practice.

14.
Front Genet ; 13: 806190, 2022.
Article in English | MEDLINE | ID: mdl-35812735

ABSTRACT

Galloway-Mowat syndrome is a rare autosomal recessive disease characterized by a unique combination of renal and neurological manifestations, including early-onset steroid-resistant nephrotic syndrome, microcephaly, psychomotor delay, and gyral abnormalities of the brain. Most patients die during early childhood. Here, we identified a novel homozygous O-sialoglycoprotein endopeptidase (OSGEP) variant, NM_017807.3:c.973C>G (p.Arg325Gly), in four affected individuals in an extended consanguineous family from Saudi Arabia. We have described the detailed clinical characterization, brain imaging results, and muscle biopsy findings. The described phenotype varied from embryonic lethality to early pregnancy loss or death at the age of 9. Renal disease is often the cause of death. Protein modeling of this OSGEP variant confirmed its pathogenicity. In addition, proteomic analysis of the affected patients proposed a link between the KEOPS complex function and human pathology and suggested potential pathogenic mechanisms.

15.
Int J Pediatr Adolesc Med ; 9(2): 131-135, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35663781

ABSTRACT

Purpose and Background: To evaluate the electro-clinical manifestations and outcomes of children with absence epilepsy at a tertiary center in Saudi Arabia. Methods: This retrospective study reviewed the medical and EEG records of patients who were diagnosed to have CAE as per the International League Against Epilepsy (ILAE) definition for CAE. The study was conducted in the pediatric neurology clinic of King Khalid University Hospital, King Saud University Medical City, Riyadh, Saudi Arabia, between January 2000 and December 2019. Patients who did not meet (ILAE) criteria, lost follow-up, and those who did not receive treatment at KKUH were excluded. Data regarding the patient's disease, electro-clinical manifestations, anti-seizure medication response, and outcomes were collected. Results: A total of 35 patients, with an average age at diagnosis of 7 ± 2.1 y, were included in the study; among them, 51.4% were female and approximately 48.6% presented with a family history of epilepsy. Regarding clinical features, all patients experienced staring and altered awareness, 94.2% had less than 20 spells per day at the time of diagnosis, and 65.7% were provoked by the hyperventilation test. Regarding EEG findings, all patients had bilateral, symmetrical, and synchronous discharges in the form of regular 3 Hz spike-and-wave complexes, and 94.3% had a generalized initial ictal discharge. Also, 22.8% had eye fluttering with electrographic seizures. Ethosuximide (ESM) was used as the drug of choice in 45.7% of the patients. Regarding clinical outcomes, 94.3% had their disease clinically controlled, and 80% had a normalized EEG after few months of starting anti-seizure medication. Finally, 37.2% experienced complete remission of epilepsy after 3-5 y; however, one patient developed juvenile myoclonic epilepsy. Conclusion: This study described the electro-clinical manifestations of patients with childhood absence epilepsy and outcomes. Furthermore, early diagnosis and prompt treatment of childhood absence epilepsy improve treatment outcomes.

16.
Asian J Psychiatr ; 71: 103054, 2022 May.
Article in English | MEDLINE | ID: mdl-35248844

ABSTRACT

OBJECTIVES: We aimed to estimate the prevalence of autism spectrum disorder between 2 and 4 years old in Riyadh, Saudi Arabi Methods: A cross-sectional study was conducted among Saudi children aged 2-4 years between December 2017 and March 2018 at five different hospitals in Riyadh. RESULTS: A Total of 398 children were included. The prevalence of ASD was estimated to be (2.51%, 1:40, 25 per 1000)), with a male to female ratio of 3:1. CONCLUSION: The estimated high prevalence rate of ASD is close to recent trends in international studies. Future population-based studies are required.


Subject(s)
Autism Spectrum Disorder , Autism Spectrum Disorder/epidemiology , Child , Child, Preschool , Cross-Sectional Studies , Female , Hospitals , Humans , Male , Prevalence , Saudi Arabia/epidemiology
17.
Front Public Health ; 9: 752323, 2021.
Article in English | MEDLINE | ID: mdl-34722451

ABSTRACT

Objectives: To quantify parental acceptance of the COVID-19 vaccine and assess the vaccine hesitancy (VH) for COVID-19 vs. childhood vaccines. Methods: Eight vaccine hesitancy scale (VHS) items, adopted from WHO's Strategic Advisory Group of Immunization (SAGE), were used to assess VH for COVID-19 vaccine vs. routine childhood vaccines. We distributed the online survey to parents with the commence of the national childhood COVID-19 vaccination program in Saudi Arabia. Results: Among 3,167 parents, 47.6% are decided to vaccinate their children against COVID-19. The most common reasons for refusal were inadequate safety information (69%) and worry about side effects (60.6%). Parents have a significantly greater positive attitudes toward children's routine vaccines vs. the COVID-19 vaccine, with higher mean VHS (±SD) = 2.98 ± 0.58 vs. 2.63 ± 0.73, respectively (p-value < 0.001). Parents agreed more that routine childhood vaccines are more essential and effective as compared to the COVID-19 vaccine (Cohen's D: 0.946, and 0.826, consecutively; T-test p-value < 0.00). There is more parental anxiety about serious side effects of the COVID-19 vaccine vs. routine childhood vaccines (Cohen's D = 0.706, p-value < 0.001). Parents who relied on the Ministry of Health information were more predicted (OR = 1.28, p-value = 0.035) to intend to vaccinate as opposed to those who used the WHO website (OR = 0.47, -53%, p-value < 0.001). In a multivariate logistic regression analysis, the factors associated with intention to vaccinate children were parents who received COVID-19 vaccine, older parents, having children aged 12-18, and parents with lower education levels. Conclusions: Significant proportion of parents are hesitant about the COVID-19 vaccine because they are less confident in its effectiveness, safety, and whether it is essential for their children. Relying on the national official healthcare authority's website for the source of information was associated with increased acceptance of childhood COVID-19 vaccination. As parental intention to vaccinate children against COVID-19 is suboptimal, healthcare authorities could boost vaccine uptake by campaigns targeting hesitant parents.


Subject(s)
COVID-19 Vaccines , COVID-19 , Child , Humans , Parents , Patient Acceptance of Health Care , SARS-CoV-2 , Vaccination
18.
BMC Med Educ ; 21(1): 462, 2021 Aug 31.
Article in English | MEDLINE | ID: mdl-34461872

ABSTRACT

BACKGROUND: Medical training programs candidate's interview is an integral part of the residency matching process. During the coronavirus disease 2019 (COVID-19) pandemic, conducting these interviews was challenging due to infection prevention restrains (social distancing, namely) and travel restrictions. E-interviews were implemented by the Saudi Commission for Healthcare Specialties (SCFHS) since the matching cycle of March 2020 to hold the interviews in a safer virtual environment while maintaining the same matching quality and standards. AIM: This study was conducted to assess the medical training residency program applicants' satisfaction, stress, and other perspectives for the (SCFHS) March 2020 Matching-cycle conducted through an urgently implemented E-interviews process. METHOD: A cross-sectional, nationwide survey (Additional file 1) was sent to 4153 residency-nominated applicants to the (SCFHS) March 2020 cycle. RESULTS: Among the 510 candidates who responded, 62.2% applied for medical specialties, 20.2% applied for surgical specialties, and 17.6% applied for critical care and emergency specialties. Most respondents (61.2%) never had previous experience with web-based video conferences. Most respondents (80.2%) used the Zoom application to conduct the current E-interviews, whereas only 15.9% used the FaceTime application. 63.3% of the respondents preferred E-interviews over in-person interviews, and 60.6% rated their experience as very good or excellent. 75.7% of the respondents agreed that all their residency program queries were adequately addressed during the E-interviews. At the same time, 52.2% of them agreed that E-interviews allowed them to represent themselves accurately. 28.2% felt no stress at all with their E-interviews experience, while 41.2% felt little stressed and only 8.2% felt highly stressed. The factors that were independently and inversely associated with applicants' level of stress with E-interviews experience were their ability to represent themselves during the interviews (p = 0.001), cost-savings (p < 0.001), their overall rating of the E-interviews quality (p = 0.007) and the speed of the internet connection (p < 0.006). CONCLUSION: Videoconferencing was implemented on an urgent basis during the COVID-19 pandemic in the medical residency application process in Saudi Arabia. It was perceived as an adequate and promising tool to replace in-person interviews in the future. Applicants' satisfaction was mainly driven by good organization, cost-saving, and their ability to present themselves. Future studies to enhance this experience are warranted.


Subject(s)
COVID-19 , Internship and Residency , Cross-Sectional Studies , Fellowships and Scholarships , Humans , Pandemics , Personnel Selection , SARS-CoV-2
19.
Healthcare (Basel) ; 9(8)2021 Jul 28.
Article in English | MEDLINE | ID: mdl-34442087

ABSTRACT

BACKGROUND: The educational process in different medical schools has been negatively affected by the COVID-19 pandemic worldwide. As a part of the Saudi government's attempts to contain the spread of the virus, schools' and universities' educational activities and face-to-face lectures have been modified to virtual classrooms. The purpose of this study was to explore the perceptions of the faculty and the students of an electronic objective structured clinical examination (E-OSCE) activity that took place during the COVID-19 pandemic in the oldest medical school in Saudi Arabia. METHODS: An e-OSCE style examination was designed for the final-year medical students by the pediatrics department, College of Medicine at King Saud University in Riyadh, Saudi Arabia. The examination was administered by Zoom™ video conferencing where both students and faculty participated through their laptop or desktop computers. In order to explore the students' and the faculty's perceptions about this experience, a newly designed 13-item online questionnaire was administered at the end of the e-OSCE. RESULTS: Out of 136 participants (23 faculty and 112 students), 73 respondents (e.g., 54% response rate) filled out the questionnaire. Most of the respondents (69.8%) were very comfortable with this new virtual experience. Most participants (53.4%) preferred the e-OSCE compared to the classic face-to-face clinical OSCE during the pandemic. Regarding the e-OSCE assessment student tool, 46.6% reported that it is similar to the classic face-to-face OSCE; however, 38.4% felt it was worse. CONCLUSIONS: The e-OSCE can be a very effective alternative to the classic face-to-face OSCE due to the current circumstances that still pose a significant risk of infection transmission. Future studies should examine different virtual strategies to ensure effective OSCE delivery from the perspective of both faculty and students.

20.
Int J Pediatr Adolesc Med ; 8(2): 112-116, 2021 Jun.
Article in English | MEDLINE | ID: mdl-34084883

ABSTRACT

BACKGROUND: Lumbar puncture (LP) remains an essential diagnostic procedure for neurological and infectious diseases. However, it remains a source of anxiety to patients and families. This research aimed to assess the impact of a newly developed educational simplified video about LP, in the parents' native language, that is tailored to their social background and beliefs and to assess whether it can facilitate their consent for the procedure. METHODS: This prospective, interventional study was conducted at the outpatient pediatric clinics at a teaching hospital. The conventional arm used verbal explanation about LP. The second method utilized a standardized video, having the same information as the conventional arm, with streaming of graphic depictions. Parents' knowledge and perceived LP risks were measured before and after the intervention. RESULTS: Two hundred and one parents were enrolled, with no significant differences in the socio-demographic and baseline characteristics. Both verbal and video-based counseling were found to provide a statistically significant increase in knowledge scores, and a Wilcoxon signed-rank test showed that knowledge gains for both groups were statistically significant (Verbal Explanation: W = 2693, n = 83, P < .001 and Video: W = 5538, n = 117, P < .001). However, the conventional verbal counseling resulted in more consistent gain of knowledge (SD = 14.5) as compared to the video group (SD = 18.94). The video group reported higher perceived risk (Mean 8.2, SD 3.59) than the verbal explanation group (Mean 7.12, SD 2.51). The less educated parents perceived LP procedure to be of significantly higher risk after watching the video (P < .001). It was found that 73.6% of persons with perceived intention to refuse LP changed their opinion after either of the counseling interventions, with significant opinion difference pre- and post-counseling intervention (P value .002). CONCLUSIONS: Video education in parents' native language about LP is as effective as conventional verbal education for informed consent, with the additional advantage of reproducibility and more illustrations to give parents better insight. However, this video should be followed by direct interaction with parents to ensure their full understanding and address any further concerns.

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