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.
Our knowledge of disease genes in neurological disorders is incomplete. With the aim of closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous families in whom known ...disease genes had been excluded by autozygosity mapping and candidate gene analysis. This prescreening step led to the identification of 69 recessive genes not previously associated with disease, of which 33 are here described (SPDL1, TUBA3E, INO80, NID1, TSEN15, DMBX1, CLHC1, C12orf4, WDR93, ST7, MATN4, SEC24D, PCDHB4, PTPN23, TAF6, TBCK, FAM177A1, KIAA1109, MTSS1L, XIRP1, KCTD3, CHAF1B, ARV1, ISCA2, PTRH2, GEMIN4, MYOCD, PDPR, DPH1, NUP107, TMEM92, EPB41L4A, and FAM120AOS). We also encountered instances in which the phenotype departed significantly from the established clinical presentation of a known disease gene. Overall, a likely causal mutation was identified in >73% of our cases. This study contributes to the global effort toward a full compendium of disease genes affecting brain function.
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•Multiplex consanguineous families are rich sources for novel gene discovery•Prescreening these families for known disease genes accelerates gene discovery•33 novel candidate genes are reported in this study
Using whole-exome sequencing on prescreened multiplex consanguineous families, Alazami et al. describe the identification of 33 novel candidate genes for various neurogenetic conditions. Such families are rich sources for novel gene discovery.
Deficiency of ubiquitin-specific peptidase 18 (USP18) is a severe type I interferonopathy. USP18 down-regulates type I interferon signaling by blocking the access of Janus-associated kinase 1 (JAK1) ...to the type I interferon receptor. The absence of USP18 results in unmitigated interferon-mediated inflammation and is lethal during the perinatal period. We describe a neonate who presented with hydrocephalus, necrotizing cellulitis, systemic inflammation, and respiratory failure. Exome sequencing identified a homozygous mutation at an essential splice site on
. The encoded protein was expressed but devoid of negative regulatory ability. Treatment with ruxolitinib was followed by a prompt and sustained recovery. (Funded by King Saud University and others.).
Biotin-responsive basal ganglia disease (BBGD) is an autosomal recessive neurometabolic disorder. It is characterized by sub acute encephalopathy with confusion, seizure, dysarthria and dystonia ...following a history of febrile illness. If left untreated with biotin, the disease can progress to severe quadriparesis and even death.
A retrospective chart review of 18 patients with BBGD from two tertiary institutions describing their clinical, magnetic resonance imaging and molecular findings was conducted.
Eighteen children from 13 families seen over a period of nine years (2003-2012) were included. (Age range: 14month to 23 years, M: F: 1:1). The clinical features included sub acute encephalopathy, ataxia (n= 18), seizures (n= 13) dystonia (n=12) ,dysarthria (n= 9), quadriparesis and hyperreflexia (n=9). Magnetic resonance imaging demonstrated abnormal signal intensity with swelling in the basal ganglia during acute crises (n= 13/13) and atrophy of the basal ganglia and necrosis during follow up (n= 13/13). One-third of the present patients showed the recurrence of acute crises while on biotin therapy alone, but after the addition of thiamine, crises did not recur. All of the patients have a homozygous missense mutation in exon 5 of the SLC19A3 gene. The frequency of acute crises, delay in diagnosis and initiation of treatment significantly influenced the outcome. On follow up, four patients died, two had spastic quadriplegia, six had normal outcome and the rest had speech and motor dysfunctions.
Clinicians should suspect BBGD in any child presenting with sub acute encephalopathy, abnormal movement and MRI findings as described above. Both biotin and thiamine are essential for disease management. Since biotin alone could not prevent the recurrence of crises in some patients, a more appropriate term to describe the disease would be biotin-thiamine-responsive basal ganglia disease (BTBGD).
Congenital microcephaly (CM) is an important birth defect with long term neurological sequelae. We aimed to perform detailed phenotypic and genomic analysis of patients with Mendelian forms of CM.
...Clinical phenotyping, targeted or exome sequencing, and autozygome analysis.
We describe 150 patients (104 families) with 56 Mendelian forms of CM. Our data show little overlap with the genetic causes of postnatal microcephaly. We also show that a broad definition of primary microcephaly -as an autosomal recessive form of nonsyndromic CM with severe postnatal deceleration of occipitofrontal circumference-is highly sensitive but has a limited specificity. In addition, we expand the overlap between primary microcephaly and microcephalic primordial dwarfism both clinically (short stature in >52% of patients with primary microcephaly) and molecularly (e.g., we report the first instance of CEP135-related microcephalic primordial dwarfism). We expand the allelic and locus heterogeneity of CM by reporting 37 novel likely disease-causing variants in 27 disease genes, confirming the candidacy of ANKLE2, YARS, FRMD4A, and THG1L, and proposing the candidacy of BPTF, MAP1B, CCNH, and PPFIBP1.
Our study refines the phenotype of CM, expands its genetics heterogeneity, and informs the workup of children born with this developmental brain defect.
High quality evidence-based clinical practice guidelines (CPGs) have a major impact on the appropriate diagnosis and management and positive outcomes. The evidence-based healthcare for patients with ...attention deficit hyperactive disorder (ADHD) is challenging. The objective of this study was to appraise the quality of published CPGs for ADHD.
A systematic review was conducted for ADHD CPGs using CPG databases, DynaMed, PubMed, and Google Scholar. The quality of each included CPG was appraised by three independent appraisers using the Appraisal of Guidelines for Research & Evaluation II (AGREE II) instrument.
Six CPGs were critically reviewed. The AGREE II standardized domain scores revealed variation between the quality of these CPGs with the National Institute of Health and Care Excellence (NICE), University of Michigan Health System, and American Academy of Pediatrics CPGs as the top three. Overall, the recommendations for management of ADHD were similar in these CPGs.
Reporting of CPG development is often poorly documented. Guideline development groups should aim to follow the AGREE II criteria to improve the standards and quality of CPGs. The NICE CPG showed the best quality. Embedding the AGREE II appraisal of CPGs in the training and education of healthcare providers is recommended. The protocol for this study was published in PROSPERO (International prospective register of systematic reviews). Link: http://www.crd.york.ac.uk/PROSPERO/display_record.php?ID=CRD42017078712 and is additionally available from protocols.io. Link: https://dx.doi.org/10.17504/protocols.io.q27dyhn.
Pyridoxamine‐5′‐phosphate oxidase (PNPO) deficiency is an autosomal recessive pyridoxal 5′‐phosphate (PLP)‐vitamin‐responsive epileptic encephalopathy. The emerging feature of PNPO deficiency is the ...occurrence of refractory seizures in the first year of life. Pre‐maturity and fetal distress, combined with neonatal seizures, are other associated key characteristics. The phenotype results from a dependency of PLP which regulates several enzymes in the body. We present the phenotypic and genotypic spectrum of (PNPO) deficiency based on a literature review (2002‐2020) of reports (n = 33) of patients with confirmed PNPO deficiency (n = 87). All patients who received PLP (n = 36) showed a clinical response, with a complete dramatic PLP response with seizure cessation observed in 61% of patients. In spite of effective seizure control with PLP, approximately 56% of patients affected with PLP‐dependent epilepsy suffer developmental delay/intellectual disability. There is no diagnostic biomarker, and molecular testing required for diagnosis. However, we noted that cerebrospinal fluid (CSF) PLP was low in 81%, CSF glycine was high in 80% and urinary vanillactic acid was high in 91% of the cases. We observed only a weak correlation between the severity of PNPO protein disruption and disease outcomes, indicating the importance of other factors, including seizure onset and time of therapy initiation. We found that pre‐maturity, the delay in initiation of PLP therapy and early onset of seizures correlate with a poor neurocognitive outcome. Given the amenability of PNPO to PLP therapy for seizure control, early diagnosis is essential.
•Higher levels of satisfaction with newly implemented EHR in the developing countries were associated with its perceived positive effect on individual performance and patient care.•Better IT support ...with new EHR implementation and hardware availability may improve satisfaction.•Time needed for patient's data entry warrants attention to improve satisfaction. Prompt super-users and IT support in response to feedback from healthcare workers during the launch of a new EHR system may improve system use.
Apposite implementation of Electronic Health Records (EHR) is anchoring standards of care in healthcare settings by reducing long-run operational costs, improving healthcare quality, and enhancing patient safety.
This study aims to explore factors that might influence Pediatricians’ satisfaction with an implemented EHR system and its perceived usefulness at a tertiary-care teaching hospital, Riyadh, Saudi Arabia.
A cross-sectional survey distributed to all physicians working in the pediatric department of King Saud University Medical City (KSUMC) in the period from June to November 2015, two months after the launch of the EHR system, internally branded as electronic system for integrated health information (eSiHi). Bivariate and multivariate regression were analyzed to examine factors associated with physicians’ satisfaction.
Of the 112 physicians who completed the survey, 97 (86.6%) attended training courses before the implementation of new EHR. On average, the participants rated the perceived usefulness of the new system at 6.4/10 for patient care and physicians' satisfaction levels were 5.2/10. The top indicator of EHR usefulness was the system's ability to reduce errors and improve the quality of care mean 3.31, SD 0.9, RII 82.8%; the lowest-ranking indicator was the physicians’ perceived familiarity with functions and benefits mean 2.68, SD 0.7, RII 67%. The top indicator of satisfaction with the EHR system was enhanced “individual performance” mean 3.04, SD 1, RII 60.9%; the lowest-ranking perceived indicator was the limited availability of workplace computers mean 1.91, SD 1.2, RII 38.2%.
Limited data regarding EHR implementation and end-users satisfaction in the Middle East region necessitates further work on factors affecting levels of satisfaction with the EHR system among different health institutes. Lack of information technology (IT) support, hardware, and time-consuming data entry process are challenging barriers for proper utilization of EHR for pediatric health care services.
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.
Vitamin D deficiency is highly prevalent among children with epilepsy. Lack of high-quality evidence led to variability among scientific societies recommendations. Therefore, we aim to determine the ...efficacy of different common doses used in the pediatric practice to maintain optimal 25-hydroxy vitamin D (25 OH vitamin D) level in children with epilepsy and normal baseline 25 (OH) vitamin D level over 6 months of supplementation.
This is a protocol for phase IV pragmatic randomized superiority controlled open-label trial at King Saud University Medical City in Riyadh. Children with epilepsy and receiving chronic antiepliptic medication and normal baseline 25 (OH) vitamin D level will be randomly assigned to receive Cholecalciferol 400 IU/day versus 1000 IU/day for 6 months. Our primary outcome is the proportion of children with vitamin D insufficiency (25 (OH) vitamin D level < 75nmol/L) at 6 months. Secondary outcomes include seizure treatment failure, seizure frequency, parathyroid hormone (PTH) levels, bone mineral density, and safety.
Our trial is set out to evaluate the efficacy of common different vitamin D maintenance doses on 25 (OH) vitamin D level, seizure control, and bone health for children with epilepsy. The results of our study will possibly help in shaping current vitamin D guidelines for vitamin D supplementation in children with epilepsy and provide a link between 25 (OH) vitamin D level and seizure control.
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