The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.

BACKGROUND: To investigate the genetics of early-onset progressive cerebellar ataxia in Iran, we conducted a study at the Children's Medical Center (CMC), the primary referral center for pediatric disorders in the country, over a three-year period from 2019 to 2022. In this report, we provide the initial findings from the national registry. METHODS: We selected all early-onset patients with an autosomal recessive mode of inheritance to assess their phenotype, paraclinical tests, and genotypes. The clinical data encompassed clinical features, the Scale for the Assessment and Rating of Ataxia (SARA) scores, Magnetic Resonance Imaging (MRI) results, Electrodiagnostic exams (EDX), and biomarker features. Our genetic investigations included single-gene testing, Whole Exome Sequencing (WES), and Whole Genome Sequencing (WGS). RESULTS: Our study enrolled 162 patients from various geographic regions of our country. Among our subpopulations, we identified known and novel pathogenic variants in 42 genes in 97 families. The overall genetic diagnostic rate was 59.9%. Notably, we observed PLA2G6, ATM, SACS, and SCA variants in 19, 14, 12, and 10 families, respectively. Remarkably, more than 59% of the cases were attributed to pathogenic variants in these genes. CONCLUSIONS: Iran, being at the crossroad of the Middle East, exhibits a highly diverse genetic etiology for autosomal recessive hereditary ataxia. In light of this heterogeneity, the development of preventive strategies and targeted molecular therapeutics becomes crucial. A national guideline for the diagnosis and management of patients with these conditions could significantly aid in advancing healthcare approaches and improving patient outcomes.

High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.

Leukodystrophies (LDs) are a heterogeneous group of progressive neurological disorders and characterized by primary involvement of white matter of the central nervous system (CNS). This is the first report of the Iranian LD Registry database to describe the clinical, radiological, and genomic data of Persian patients with leukodystrophies. From 2016 to 2019, patients suspicious of LDs were examined followed by a brain magnetic resonance imaging (MRI). A single gene testing or whole-exome sequencing (WES) was used depending on the neuroradiologic phenotypes. In a few cases, the diagnosis was made by metabolic studies. Based on the MRI pattern, diagnosed patients were divided into cohorts A (hypomyelinating LDs) versus cohort B (Other LDs). The most recent LD classification was utilized for classification of diagnosed patients. For novel variants, in silico analyses were performed to verify their pathogenicity. Out of 680 registered patients, 342 completed the diagnostic evaluations. In total, 245 patients met a diagnosis which in turn 24.5% were categorized in cohort A and the remaining in cohort B. Genetic tests revealed causal variants in 228 patients consisting of 213 variants in 110 genes with 78 novel variants. WES and single gene testing identified a causal variant in 65.5% and 34.5% cases, respectively. The total diagnostic rate of WES was 60.7%. Lysosomal disorders (27.3%; GM2-gangliosidosis-9.8%, MLD-6.1%, KD-4.5%), amino and organic acid disorders (17.15%; Canavan disease-4.5%, L-2-HGA-3.6%), mitochondrial leukodystrophies (12.6%), ion and water homeostasis disorders (7.3%; MLC-4.5%), peroxisomal disorders (6.5%; X-ALD-3.6%), and myelin protein disorders (3.6%; PMLD-3.6%) were the most commonly diagnosed disorders. Thirty-seven percent of cases had a pathogenic variant in nine genes (ARSA, HEXA, ASPA, MLC1, GALC, GJC2, ABCD1, L2HGDH, GCDH). This study highlights the most common types as well as the genetic heterogeneity of LDs in Iranian children.

Phenylketonuria screening in Iranian newborns: a systematic review and meta-analysis.

BACKGROUND: Phenylketonuria (PKU), which is characterized by a deficiency of phenylalanine hydroxylase activity, is an autosomal recessive disorder of phenylalanine (Phe) metabolism. Newborn screening is the main population-based public health screening program that allows successful identification and treatment of PKU with low-Phe diet. The aim of this study was to evaluate the epidemiology of PKU screening in Iranian newborns. METHODS: The present study was designed based on MOOSE protocol and reporting was done in accordance with the PRISMA guidelines. The protocol of this systematic review was published in PROSPERO before it was performed (CRD42020162626). A comprehensive search was done in 10/10/2019 to find related literature on international online databases Web of Science, Scopus, EMBASE, Science Direct, PubMed/Medline, EBSCO, CINAHL, Cochrane Library, national online databases and the Google Scholar search engine. Heterogeneity among studies was assessed by I2 index and Q test. All meta-analyses were performed using Comprehensive Meta-Analysis Software ver. 2. P < 0.05 was considered significant. RESULT: Finally, 18 studies with 3,339,327 Iranian neonates were included. The prevalence of suspected hyperphenylalaninemia (HPA) was estimated to be 45.6/100,000 (95% CI: 23.9-87.1). The prevalence of suspected HPA in girls and boys infants in Iran was estimated to be 38.0/100,000 (95% CI: 15.1-95.5) and 43.3/100,000 (95% CI: 16.2-116.2), respectively. The prevalence of PKU was estimated to be 16.5/100,000 (95% CI: 12.9-21.2). The prevalence of PKU in girls and boys infants was estimated to be 13.3/100,000 (95% CI: 7.5-15.8) and 10.9/100,000 (95% CI: 7.5-15.8), respectively. The prevalence of mild to moderate HPA was estimated 9.7/100,000 (95% CI: 5.1-18.4) and the prevalence of classical PKU was estimated 4.4/100,000 (95% CI: 2.5-7.8). Sensitivity analysis for all meta-analysis with the omission of one study showed that overall estimation is still robust. CONCLUSION: The results of this meta-analysis showed that PKU is prevalent in Iranian neonates. It should be considered that for PKU there is a highly effective dietary treatment which can prevent the clinical symptoms of PKU if initiated early after detection by newborn screening.

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.

Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation. Cullup et al. recently identified mutations in the gene EPG5 as the cause of Vici syndrome. EPG5 is involved in autophagy, an evolutionarily conserved lysosomal degradation process that is essential for cell homeostasis. Following the first description in 1988 by Vici et al., 24 other cases of Vici syndrome have been published with variable expression of the defining features. Here, we report on a further case of Vici syndrome with a homozygous truncating mutation of EPG5, identified by whole-exome sequencing. The mutation in our patient is the first reported affecting the penultimate exon of EPG5 and presenting with typical clinical manifestations of Vici syndrome. Additionally, we present a detailed clinical analysis of Vici syndrome comprising all cases previously described in the literature.

The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy.

BACKGROUND: Insufficient amounts of survival motor neuron protein is leading to one of the most disabling neuromuscular diseases, spinal muscular atrophy (SMA). Before the current study, the detailed characteristics of Iranian patients with SMA had not been determined. OBJECTIVE: To describe the key demographic, clinical, and genetic characteristics of patients with SMA registered in the Iranian Registry of SMA (IRSMA). METHODS: IRSMA has been established since 2018, and the demographic, clinical, and genetic characteristics of patients with SMA were recorded according to the methods of treat neuromuscular disease (TREAT-NMD) project. RESULTS: By October 1, 2022, 781 patients with 5q SMA were registered. Of them, 164 patients died, the majority of them had SMA type 1 and died during the first 20 months of life. The median survival of patients with type 1 SMA was 23 months. The consanguinity rate in 617 alive patients was 52.4%, while merely 24.8% of them had a positive family history. The most common type of SMA in live patients was type 3. Morbidities were defined as having scoliosis (44.1%), wheelchair dependency (36.8%), tube feeding (8.1%), and requiring mechanical ventilation (9.9%). Most of the registered patients had a homozygous deletion of SMN1, while the frequency of patients with higher copy numbers of SMN2, was less in more severe types of the disease. Earlier onset of the disease was significantly seen in patients with lower copy numbers of SMN2. The neuronal apoptosis inhibitory protein (NAIP) gene deletion was associated with a higher incidence of more severe types of SMA, higher dependency on ventilators, tube feeding, and earlier onset of the disease. CONCLUSIONS: The IRSMA is the first established Iranian nationwide registry of patients with SMA. Using this registry, decision-makers, researchers, and practitioners can precisely understand the epidemiology, characteristics, and genetics of patients with SMA in Iran.

Association between Maternal Birth Weight and Gestational Diabetes Mellitus: A Systematic Review and Meta-Analysis.

Background and Aims: Gestational diabetes mellitus is one of the most important issue related to health status of mothers and their children throughout life. This meta-analysis has been conducted to assess relationship between maternal birth weight and gestational diabetes. Methods and Results: This article is written using PRISMA guideline for systematic review and meta-analysis. We searched epidemiological studies without a time limit from following databases-Scopus, PubMed, Science Direct, Embase, Web of Science, CINAHL, Cochrane, EBSCO, and Google Scholar search engine using MESH keywords. Heterogeneity was determined using the Cochran Q test and I 2 index. Data were analyzed using comprehensive meta-analysis, version 2. The significance level of the tests was considered as P < 0.05. Results: The result of combining ten studies with a sample size of 228,409 cases using a fixed-effect model showed that low maternal birth weight increased the risk of gestational diabetes mellitus (1.71 [95% CI 1.43-2.06, P < 0.001]). In addition, the result of combining nine studies with a sample size of 227,805 cases using a random-effects model showed that macrosomia did not increase the risk of gestational diabetes mellitus, and there was no significant relationship between them (1.04 [95% CI 0.79-1.38; p value: 0.730]). Conclusion: The results of this systematic review and meta-analysis showed that low maternal birth weight could be a risk factor for gestational diabetes in adulthood.

Epidemiology of low birth weight in Iran: A systematic review and meta-analysis.

INTRODUCTION: Low birth weight (LBW) is an important general health indicator. The present study was conducted to evaluate the prevalence and risk factors of LBW in Iran. METHOD: This meta-analysis was reported based on the PRISMA guidelines. All stages were independently performed by two authors. This review is registered with PROSPERO (CRD42020163446). We searched epidemiological studies at international databases of Scopus, Embase, Science Direct, PubMed/Medline, CINAHL, EBSCO, Cochrane Library, Web of Science, and Google Scholar search engine, as well as Iranian databases of SID, IranDoc, Iranian National Library, Barakat Knowledge Network System, RICST and Magiran using MeSH keywords without time limit until 2019. After selecting the studies, applying the inclusion and exclusion criteria, data extraction and qualitative assessment, the data were analyzed based on random effects model using Comprehensive Meta-Analysis Software version 2. P < 0.05 was considered significant. RESULTS: The prevalence of LBW in Iran was 7.95% (95% confidence interval [CI]: 7.36-8.58) in 62 studies with a sample size of 301,839 newborns. The prevalence of LBW in girls and boys was 8.41% (95%CI: 7.47-9.45) and 6.67% (95%CI: 5.86-7.59), respectively. The girls-to-boys odds ratio of LBW was 1.25 (95%CI: 1.13-1.39, P < 0.001) very LBW and extremely LBW prevalence was estimated to be 0.61% (95%CI: 0.40-0.93) and 0.29% (95% CI: 0.18-0.45), respectively. The risk factors for LBW were age of >35 versus [vs.] ≤35 (P = 0.024), age of <18 vs. ≥18 (P < 0.001), education of middle school and lower vs. high school and higher (P < 0.001), weight under 50 kg (P = 0.001), employed vs. housekeeper (P < 0.001), inadequate prenatal care (P = 0.046), interval with previous pregnancy <2 vs. >2 (P < 0.001), prematurity (P < 0.001), history of LBW (P < 0.001), multiple birth (P < 0.001), abortion (P < 0.001), vaginal bleeding (P < 0.001), hypertension (P = 0.001) and preeclampsia (P < 0.001). CONCLUSION: The results of this meta-analysis showed that LBW is prevalent in Iran. This study can be a national database for LBW that would be of interest to Iranian health policy-makers and planners.

Third ventricle hydatid cyst: A rare case report and review of the literature.

A primary intraventricular hydatid cyst is a very rare phenomenon, which is mostly located in the lateral ventricle. To the best of our knowledge, only two cases of third ventricle hydatid cyst have been reported. Herein, we present a very rare case of third ventricle hydatid cyst in a four- year-old boy with nausea, vomiting, and progressive drowsiness. Neuroradiological examination revealed a large, spherical, well-defined cystic lesion within the third ventricle. The patient underwent surgery using the anterior interhemispheric transcallosal approach, and the cyst was successfully removed using the Dowling's technique. In this case report, we described the first case of transcallosal removal of a rare third ventricle hydatid cyst, which can be considered in the differential diagnosis of suprasellar arachnoid cysts. Caution must be taken in determining the best surgical approach to prevent unexpected complications.

The association between iron deficiency anemia and febrile seizure.

OBJECTIVE: Different studies have reported contradictory results regarding the relationship between iron deficiency anemia (IDA) and febrile seizure (FS). The present study was conducted to determine the effect of IDA on FS in children. PATIENTS AND METHODS: This case-control study was conducted among 52 children with FS (the case group) and 18 children with afebrile seizures and 51 children with fever without seizures in the age range of 6 months to 5 years admitted to the pediatric ward of Imam Khomeini Hospital in Ilam from March 2016 to January 2017. Patients were selected using the convenience sampling method. Red blood cell (RBC) count as well as measurement of hemoglobin (Hb), hematocrit (Hct), ferritin, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and mean corpuscular hemoglobin concentration (MCHC) levels were performed in all patients. The collected data were analyzed using SPSS16 software. RESULTS: A total of 34.6% in the FS group, 66.7% in the afebrile seizure group and 41.2% in the fever without seizure group suffered from IDA, which was not statistically significant between the three groups. Hb, Hct and RBC levels were higher in the case group and MCV, MCH, MCHC levels in the case group were lower than those in the control group. The odds ratio (OR) for FS compared to the febrile group was 0.756 [95% confidence interval (CI) = 0.34-1.68; p = 0.493] and that for FS compared to seizure was 0.265 (95% CI = 0.085-0.823; p = 0.022). CONCLUSIONS: This study showed that IDA may have protective effects on the onset of FS, and based on the results, IDA is more common in children with afebrile seizures. Further and more comprehensive studies are recommended.

Effects of Pre-Injury Anti-Platelet Agents on Short-Term Outcome of Patients with Mild Traumatic Brain Injury: A Cohort Study.

OBJECTIVE: To determine the effects of pre-injury consumption of anti-platelet agents on the 30-day outcomes of patients with mild traumatic brain injury (TBI). METHODS: This prospective cohort study was conducted at three general hospitals in Tehran, Iran between July 2013 and July 2014. The study population included all patients with mild TBI aged over 18 years that medicated with aspirin or clopidogrel before occurring trauma. Within hospitalization, all patients were assessed with respect to in-hospital conditions especially complications and adverse events. After discharge, the individuals were followed for 30 days by telephone to assess mortality and disability using the Glasgow outcome scale (GOS). RESULTS: Of 1140 patients with mild TBI, only 135 had previously received aspirin and/or clopidogrel. The mean age was dramatically higher in those who were taking aspirin or clopidogrel (p<0.001). The patients with previously use of anti-platelets were more transferred by ambulance when compared to another group (p=0.006). The patients on anti-platelets had significantly lower GCS on admission when compared to others (p<0.001). Length of hospitalization was significantly longer in those receiving anti-platelets (p=0.003). In follow-up, 30-day mortality and disability was revealed in 2.8% of patients that received only aspirin and 7.5% in aspirin with clopidogrel and in 1.6 % of those who did not receive drugs without any significant difference between aspirin and control group (p=0.208) and significant difference in aspirin with clopidogrel group (p<0.001). CONCLUSION: The premedication by anti-platelets (aspirin and/or clopidogrel) in patients with mild TBI leads to prolonged hospital stay, and increase rate of disability. Age and on admission GCS are the independent risk factors for predicting the outcome in patients with mild TBI receiving anti-platelet agents.

Performance of physiology scoring systems in prediction of in-hospital mortality of traumatic children: A prospective observational study.

BACKGROUND: This study is designed to compare the value of four physiologic scoring systems of rapid acute physiology score (RAPS), rapid emergency medicine score (REMS), Worthing physiology scoring system (WPSS) and revised trauma score (RTS) in predicting the in-hospital mortality of traumatic children brought to the emergency department. METHOD: We used the data gathered from six healthcare centers across Iran between the April-October 2016. Included patients were all children with trauma. Patients were assessed and followed until discharge. Moreover, patients were divided to two groups of died and alive, and discriminatory power and general calibration of models in prediction of in-hospital mortality were compared. RESULTS: Data was gathered from 814 children (average age of 11.65 ± 5.36 years, 74.32% boys). Highest measured area under the curve was for RAPS and REMS with 0.986 and 0.986, respectively. Areas under the curve of WPSS and RTS were 0.920 and 0.949, respectively (p = 0.02). Sensitivity and specificity of RAPS were 100.0 and 95.05, respectively. These amounts for REMS were 100.0 and 94.04, respectively. Two models of RTS and WPSS had the same sensitivity of 84.62. Specificity of these two was 98.22 and 96.95, respectively. Three models of RAPS, REMS and RTS had proper calibrations in predicting mortality; however, it seems that WPSS overestimates the mortality in high risk patients. CONCLUSION: As calculations of RAPS is easier than REMS and their proper calibrations, it seems that RAPS is the best physiologic model in predicting in-hospital mortality and classifying in traumatic children based on severity of injury. However, further validation of the recommended score is essential before implementing them into routine clinical practice.

Worthing Physiological Score vs Revised Trauma Score in Outcome Prediction of Trauma patients; a Comparative Study.

INTRODUCTION: Awareness about the outcome of trauma patients in the emergency department (ED) has become a topic of interest. Accordingly, the present study aimed to compare the rapid trauma score (RTS) and worthing physiological scoring system (WPSS) in predicting in-hospital mortality and poor outcome of trauma patients. METHODS: In this comparative study trauma patients brought to five EDs in different cities of Iran during the year 2016 were included. After data collection, discriminatory power and calibration of the models were assessed and compared using STATA 11. RESULTS: 2148 patients with the mean age of 39.50±17.27 years were included (75.56% males). The AUC of RTS and WPSS models for prediction of mortality were 0.86 (95% CI: 0.82-0.90) and 0.91 (95% CI: 0.87-0.94), respectively (p=0.006). RTS had a sensitivity of 71.54 (95% CI: 62.59-79.13) and a specificity of 97.38 (95% CI: 96.56-98.01) in prediction of mortality. These measures for the WPSS were 87.80 (95% CI: 80.38-92.78) and 83.45 (95% CI: 81.75-85.04), respectively. The AUC of RTS and WPSS in predicting poor outcome were 0.81 (95% CI: 0.77-0.85) and 0.89 (95% CI: 0.85-0.92), respectively (p<0.0001). CONCLUSION: The findings showed a higher prognostic value for the WPSS model in predicting mortality and severe disabilities in trauma patients compared to the RTS model. Both models had good overall performance in prediction of mortality and poor outcome.

The efficacy of the ketogenic diet in infants and young children with refractory epilepsies using a formula-based powder.

To evaluate the efficacy, safety, and tolerability of a classic 4:1 ketogenic diet using a formula-based powder in infants and children with refractory seizures who are reluctant to eat homemade foods. We conducted an open label trial and administered a ketogenic diet using formula-based power (Ketocal®). Twenty-seven infants and children aged between 12 months and 5 years were enrolled who had refractory seizures and were reluctant to eat homemade foods. Of 27 children, 5 were lost to follow-up and 22 were remained at the end of the study. After 4 months, the median frequency of seizures per week was reduced >50% in 68.2% of patients, while 9/22 children (40.9%) showed a 50-90% reduction in seizure frequency per week, and 6/22 children (27.3%) showed more than 90% reduction in seizure frequency per week. Over the study course, 6/22 (27%) children who continued to receive the diet developed constipation, one child developed gastroesophageal reflux, and one child developed hypercholesterolemia. None of these children discontinued the diet because of the complications. Thirteen children and their parents (59%) reported that the diet was palatable and tolerable enough. The ketogenic diet using a formula-based powder (Ketocal®) is effective, safe, and tolerable in infants and children with refractory seizures who are reluctant to eat homemade foods according to the rules of the ketogenic diet.

The effects of classic ketogenic diet on serum lipid profile in children with refractory seizures.

More than 25 % of children with epilepsy develop refractory seizures unresponsive to both old and new generation anticonvulsants. Since such seizures have a serious negative impact on the quality of life, other treatment options are considered. The ketogenic diet is a well-known treatment for managing refractory seizures, although its mechanism of action is unknown. Studies have shown that this diet is as good as, or better than, any of the newer medications in reducing seizure frequency. However, concerns about adverse effects have been raised. We conducted an open label trial to show the effects of this diet on serum lipid profile. Thirty-three children with refractory epilepsy were treated with the ketogenic diet and were followed for 6 months. Their serum lipid profile was assessed at baseline, and at 3 and 6 months after initiating the diet. Seizure frequency was reduced in 63 % of children (no seizures in 2/33 and reduced >50 % in 19/33). However, after 6 months of administering the diet, median triglyceride was significantly increased (from 84 to 180 mg/dl, P < 0.001), median total cholesterol was significantly increased (from 180 to 285 mg/dl, P < 0.001), median serum low-density lipoprotein (LDL) was significantly increased (from 91 to 175 mg/dl, P < 0.001), and median serum high-density lipoprotein (HDL) was significantly increased (from 51 to 58 mg/dl, P < 0.001). Results of this study indicate that a classic ketogenic diet in children with refractory seizures is effective in seizure reduction, but leads to development of hypercholesterolemia and hypertriglyceridemia.

Association of TGFB, but not IL10, single nucleotide polymorphisms with febrile seizures.

PURPOSE: Febrile seizures (FS) are the most common convulsive event in children. Inflammatory elements and genetics seem to have major roles in their pathogenesis. METHODS: Seventy nine patients with FS were enrolled in this study and compared with 140 controls. Cytokine genotyping was performed, using polymerase chain reaction with sequence-specific primers. The allele and genotype frequency of three single nucleotide polymorphisms (SNPs) within the IL-10 gene at -1082, -819 and -592 positions (rs1800896, rs1800871, rs1800872), and two SNPs within the TGFB at codons 10 and 25 (rs1982037, rs1800471) were determined. RESULTS: No significant difference was detected in allelic frequency of IL-10 at -1082, -819 and -592 positions (rs1800896, rs1800871, rs1800872) and TGFB at codon 25 (rs1800471), between patients and controls. A significant negative association was observed at the codon 10/CT (rs1982037) in the patient group (OR, 0.5; 95%CI, 0.27-0.93; p=0.026). Further, a negative association was detected in patients with simple FS at same position (OR, 0.41; 95%CI, 0.18-0.93; p=0.03), thus revealing a protective effects in FS patients. There was no significant difference in allelic and genotype frequency between simple and complex FS samples. Furthermore, haplotype analysis revealed significant difference in frequency of TGFB/TC haplotype in comparison between complex FS patients and controls (p=0.048). CONCLUSION: Certain alleles, genotypes, and haplotypes in TGFB genes were over represented in patients with FS, which possibly could predispose individuals to this disease.

Antimicrobial resistance patterns and their encoding genes among Acinetobacter baumannii strains isolated from burned patients.

The purpose of this study was to determine the mechanisms and patterns of antimicrobial resistance among the isolates obtained from burned patients with wound infections at a teaching hospital in Tehran, Iran. A total of 23 Acinetobacter baumannii isolates were collected from patients with burn wound infections between August 2009 and July 2010 from a hospital in Tehran. The susceptibility of these strains against 11 antimicrobial agents was determined by E-test according to the CLSI guidelines. All the resistant strains were then subjected to PCR assay for 28 distinct resistance genes. The most active antimicrobial agent was colistin with 100% sensitivity followed by gentamicin, amikacin and imipenem with 69.5%, 52.1% and 51.1% sensitivity, respectively. The most frequent resistance genes detected were bla(OXA-51-like) genes (n=23; 100%) that was intrinsic to A. baumannii isolates, gyrA (n=23; 100%), carO (n=23; 100%), tetA (n=22; 95.5%), tetB (n=15; 65.2%), intI (n=13; 56.5%) and PER (n=12; 52.1%), respectively. In order to make a proper choice of antibiotic for burn patients, it would be beneficial to physicians to identify drug resistance patterns in A. baumannii isolates.

Efficacy and usability of buccal midazolam in controlling acute prolonged convulsive seizures in children.

A Prolonged convulsive seizure is the most common neurological medical emergency with poor outcome. An ideal anticonvulsant should be easy-to-use, effective, and safe, and it should also have a long-lasting effect. Benzodiazepines, give via the intravenous or rectal route have generally been used as first-line drugs. In small children, IV access can be difficult and time consuming. Midazolam is a potent anticonvulsant and is rapidly absorbed from the rectal, nasal, and buccal mucosa. Our aim was to evaluate the efficacy and usability of buccal midazolam in controlling seizures in children with acute prolonged seizures, by comparing it with rectal diazepam. Ninety-eight patients were enrolled, with 49 patients in each treatment group. In the buccal midazolam group, 42 (88%) patients were controlled in less than 4 min of drug administration, and all of the patients were controlled within 5 min of drug administration. In the rectal diazepam group, 24 (49%) patients were controlled in less than 4 min and 40 (82%) patients were controlled within 5 min of drug administration. The time for drug administration and drug effect was significantly less with buccal midazolam than with rectal diazepam (p value<0.001). In the buccal midazolam group, 46 (94%) parents were satisfied with their child's treatment and route of drug administration while in the rectal diazepam group, 7 (14%) parents were satisfied. Buccal midazolam was significantly more acceptable than rectal diazepam (p value<0.001). In conclusion, buccal midazolam may be as effective as rectal diazepam but more convenient to use in the controlling acute prolonged seizures in children, especially in situations in which there is a difficulty in gaining IV access, for example, in infants.