Evaluation of adherence to pediatric status epilepticus management guidelines in Saudi Arabia.

OBJECTIVE: To assess compliance with the 2017 Saudi pediatric status epilepticus management guidelines and to printout the main obstacle for adherence to the guidelines. METHODS: A cross sectional study conducted in September 2019, using electronic survey. The survey sent to all the Pediatric Emergency physicians practicing in Kingdom of Saudi Arabia (KSA) through emails and WhatsApp and the questionnaire based on clinical scenario written in English language. RESULTS: One hundred and three (70%) of 147 physicians working in KSA and covering pediatric emergency departments responded to the survey. Only 20% of the physicians reported full compliance to all 4 guideline components; 57% reported that they were not aware of the published guidelines. CONCLUSION: Pediatric emergency physicians reported poor compliance to the 2017 published guidelines for the treatment of children with convulsive status epilepticus in KSA.

Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.

OBJECTIVES: To determine the incidence of newborn screening (NBS) disorders and to study the key performance indicators of the program. METHODS: This retrospective single-center study enrolled all infants who underwent NBS from January 2012 to December 2017 at Prince Sultan Military Medical City, Riyadh, Saudi Arabia. We screened 17 NBS disorders. Blood samples were collected 24 hours after birth. If the initial result was positive, a second sample was collected. True positive cases were immediately referred for medical management. Data were extracted from laboratory computerized and non-computerized records using case report forms. RESULTS: During the study period, 56632 infants underwent NBS with a coverage rate of 100%. Thirty-eight cases were confirmed. The incidence of congenital hypothyroidism was 1:3775. The positive predictive value for the detection of congenital hypothyroidism was 11.8%. Propionic aciduria was the most common metabolic disorder, with an incidence of 1:14158. Very long-chain acyl CoA dehydrogenase deficiency and glutaric aciduria type 1 had an incidence of 1:18877 each. Phenylketonuria, biotinidase deficiency, maple syrup urine disease, and citrullinemia had an incidence of 1:28316 each. However, galactosemia and 3-methyl crotonyl carboxylase deficiency had the lowest incidence of 1:56632. CONCLUSION: The NBS coverage rate at our facility was 100%. Congenital hypothyroidism was the most frequently detected disorder with an incidence that matches worldwide figures. The incidence of other inherited disorders was consistent with regional figures.

Off-Hours Admissions and Mortality in PICU Without 24-Hour Onsite Intensivist Coverage.

OBJECTIVE: To evaluate whether the off-hours admission has any effect on risk-adjusted mortality and length of stay for nonelective patients admitted to a pediatric intensive care unit (PICU) without 24-hour in-house intensivist coverage. DESIGN: Prospective cohort study. SETTING: A 34-bed tertiary PICU. PATIENTS: All consecutive nonelective patients aged 0 to 14 years admitted from January 2012 to June 2015. MEASUREMENTS AND MAIN RESULTS: A total of 1254 patients were nonelectively admitted to the PICU. They were categorized according to time of PICU admission as either office hours (07:30 to 16:30 from Sunday to Thursday and whenever an intensivist is present in the ICU) or off-hours (16:30 to 07:30, Friday and Saturday and public holidays). Standardized mortality rates (SMRs) of patients admitted during off-hours were compared to SMRs of patients admitted during office hours using Pediatric Risk of Mortality (PRISM2) score. Multivariate logistic regression was used to assess the effect of time of admission on outcome after adjustment for severity of illness using the PRISM2. The mortality observed in the office-hours group was 9.4% and in the off-hours group was 8.1%. The PRISM2-based SMR was 0.83 (95% confidence interval [CI]: 0.43-1.47) for the office-hours group and 0.68 (95% CI: 0.34-1.36) for the off-hours group. No significant differences in length of ICU stay or duration of mechanical ventilation were observed between patients admitted during off-hours and those admitted during office hours. In the logistic regression model, off-hours admission was not significantly associated with a higher mortality (odds ratio: 0.85, 95% CI: 0.57-1.27; P = .44). CONCLUSIONS: The absence of an in-house intensivist during off-hours is not associated with an increase in mortality, length of ICU stay, or duration of mechanical ventilation for patients admitted to our pediatric ICU.

Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.

BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder mostly presented in children. The disorder is described as having subacute encephalopathy with confusion, dystonia, and dysarthria triggered by febrile illness that leads to neuroregression and death if untreated. Using biotin and thiamine at an early stage of the disease can lead to significant improvement. METHODS: BTBGD is a treatable disease if diagnosed at an early age and has been frequently reported in Saudi population. Keeping this in mind, the current study screened 3000 Saudi newborns for the SLC19A3 gene mutations using target sequencing, aiming to determine the carrier frequency in Saudi Population and whether BTBGD is a good candidate to be included in the newborn-screened disorders. RESULTS: Using targeted gene sequencing, DNA from 3000 newborns Saudi was screened for the SLC19A3 gene mutations using standard methods. Screening of the SLC19A3 gene revealed a previously reported heterozygous missense mutation (c.1264A>G (p.Thr422Ala) in six unrelated newborns. No probands having homozygous pathogenic mutations were found in the studied cohort. The variant has been frequently reported previously in homozygous state in Saudi population, making it a hot spot mutation. The current study showed that the carrier frequency of SLC19A3 gene mutation is 1 of 500 in Saudi newborns. CONCLUSION: For the first time in the literature, we determined the carrier frequency of SLC19A3 gene mutation in Saudi population. The estimated prevalence is too rare in Saudi population (at least one in million); therefore, the data are not in favor of including such very rare disorders in newborn screening program at population level. However, a larger cohort is needed for a more accurate estimate.

Incidence, Risk Factors, and Prognosis of Intra-Abdominal Hypertension in Critically Ill Children: A Prospective Epidemiological Study.

PURPOSE: To assess the incidence, risk factors, and outcomes of intra-abdominal hypertension (IAH) in a pediatric intensive care unit (PICU). METHODS: Prospective cohort study from January 2011 to January 2013. All children consecutively admitted to the PICU, staying more than 24 hours and requiring bladder catheterization, were included in the study. On admission, demographic data and risk factors for IAH were studied. The intra-abdominal pressure was measured every 6 hours through a bladder catheter until discharge, death, or removal of the catheter. RESULTS: Of the 175 patients, 22 (12.6%) had IAH and 7 (4%) had abdominal compartment syndrome during the intensive care unit (ICU) stay. The independent risk factors associated with IAH were the presence of abdominal distension (odds ratio [OR] 7.1; 95% confidence interval [CI], 2.6-19.9; P < .0001) and a plateau pressure of more than 30 cm H2O (OR 6.42; 95% CI, 2.13-19.36; P = .01). The presence of IAH was associated with higher mortality (40.9% vs 15.6%; P = .01) and prolonged ICU stay (19.5 [3-97] vs 8 [1-104] days, OR 1.02; 95% CI, 1.00-1.04; P = .02). Thirty-three (18.8%) patients died in the ICU, and IAH was an independent risk factor for mortality (OR 6.98; 95% CI, 1.75-27.86; P = .006). CONCLUSION: Intra-abdominal hypertension does occur in about 13% of the critically ill children, albeit less frequently than adult patients, probably related to a better compliance of the abdominal wall. The presence of abdominal distension and a plateau pressure of more than 30 cm H2O was found to be independent predictors of IAH. Children with IAH had higher mortality rate and more prolonged ICU stay.