Omani Children Research Articles

Invasive Meningococcal Disease in North Batina, Oman in 2023. A Case Study

Invasive Meningococcal Disease is a severe bacterial infection with a high fatality rate particularly in young children. It is caused by Neisseria meningitidis bacteria which colonizes the nasopharynx. The transmission is by direct contact with droplets or discharge from an infected person or a carrier. Invasive meningococcal disease commonly presents as meningitis or meningococcemia. Acute meningococcemia progresses rapidly with a characteristic purpuric rash. Confirmation of the disease is through isolating the bacteria from sterile body fluids (CSF, blood). Early diagnosis and treatment are crucial. Recognizing purpuric rash as a late symptom of meningococcemia is important. Vaccination remains remains the best prevention. In this case study we present the details of a 12-year-old Omani child with rapidly progressive fulminant meningococcemia, leading to death.

Factors associated with anxiety-related symptoms in children and adolescents during COVID-19 in Oman: a cross-sectional study.

Reports from different parts of the world suggest that the COVID-19 pandemic and the resultant lockdown and social distancing measures have heralded unprecedented mental health challenges among children and adolescents. To date, there is a dearth of studies emerging from the Arabian Gulf, where the majority of its population are children and adolescents. The study aims to examine the prevalence of anxiety-related symptoms and their covariates among children and adolescents in an Arabian Gulf country, Oman. This is a cross-sectional analytic study carried out over two weeks (1st to 15th of August 2020) during the COVID-19 pandemic across Oman. Parents were asked to complete the online survey, which consisted of the parent version of the Screen for Child Anxiety Related Emotional Disorders (SCARED) instrument and questions regarding basic socio-demographic information. Logistic regression was used to identify the contributing variables associated with anxiety-related symptoms. A total of 790 valid responses were received. Among the 790 children, 33.3% (n = 263) were diagnosed with anxiety-related symptoms by the SCARED instrument. Logistic regression analysis suggested that anxiety-related symptoms in children and adolescents were significantly associated with three demographic variables. The model shows that children with divorced or separated parents were 1.9 times more likely to have anxiety-related symptoms than children of married couples (OR = 1.93, p = 0.035). Children living in families with an income below USD 1000/month, were 1.8 times more likely to have anxiety-related symptoms than a family with an income of USD 4000/month (OR = 1.833, p = 0.018). Children in grades 3-6 were 1.8 times more likely to have anxiety-related symptoms than those in grades 1-2 (OR = 1.79, p = 0.024). Anxiety-related symptoms are common among Omani children and adolescents. They are more likely to be reported in middle scholastic grade levels and children from families with marital discord and low socioeconomic status. It is not clear whether the presently observed rates of anxiety exceed the prevalence that would have been observed prior to the COVID-19 pandemic. More studies are therefore warranted using children and adolescents' self-reported scales.

Prevalence of anxiety, depression, and post-traumatic stress disorder among Omani children and adolescents diagnosed with cancer: a prospective cross-sectional study

BackgroundChildren and adolescents diagnosed with cancer often experience psychological distress, encompassing anxiety, depression, and post-traumatic stress disorder (PTSD). This study aimed to evaluate the prevalence of these conditions among Omani children and adolescents diagnosed with cancer, alongside identifying contributing factors.MethodsA prospective cross-sectional study was conducted from October 2021 to June 2023 among a cohort of Omani children and adolescents (6–18 years old) diagnosed with cancer at three primary cancer referral centres in Oman. Validated Arabic-language versions of the Screen for Child Anxiety Related Disorders, the Center for Epidemiologic Studies Depression Scale for Children, and the Impact of Event Scale-Revised instruments were used to assess symptoms of anxiety, depression, and PTSD, respectively. An initial assessment (T1) was undertaken within the first 3 months of diagnosis, followed by a second assessment (T2) 3–6 months later.ResultsOf 113 eligible participants, 101 agreed to participate in the study (response rate: 95.6%), with 92 (91.0%) completing both assessments and included in the final analysis. Prevalence rates of anxiety, depression, and PTSD decreased from 43.5%, 56.5%, and 32.6%, respectively, at T1, to 38.0%, 35.9%, and 23.9% at T2. All average scores were below diagnostic cut-off points, except for the depression score at T1. Anxiety and depression scores decreased significantly (p = 0.043 and 0.001, respectively) between T1 and T2, as did the overall prevalence of depression (p = 0.004). At T1, linear regression analysis showed significant correlations between anxiety scores and the child’s age and PTSD score (p < 0.05); these variables were also correlated with depression scores (p ≤ 0.001). At T2, significant correlations were observed between anxiety scores and the child’s age and PTSD scores (p < 0.001). At both T1 and T2, anxiety, depression, and PTSD scores remained significantly correlated (p < 0.001).ConclusionsOmani children and adolescents recently diagnosed with cancer exhibit a high prevalence of anxiety, depression, and PTSD over time. Age-appropriate communication, ongoing support, and mental health services are recommended to help this patient group cope with their diagnosis and manage their emotional wellbeing. There is a need for future research to determine the effectiveness of specific psychological interventions in reducing the frequency of these disorders.

Brucellosis in Omani children: a multicenter experience over 15 years.

Brucellosis, a common zoonotic disease worldwide, can lead to serious complications in humans. In Oman, the disease occurs most often in the south, but is increasing in the north. Describe brucellosis in children in the Northern Governorate in Oman. Retrospective, observational. Hospitals in the Northern Governorate in Oman. We collected data on the demographics, distribution, common clinical presentations, risk factors, laboratory findings, therapy, and complications of confirmed cases of brucellosis. We included all brucellosis cases up to the age of 13 years at the Child Health Department in Royal, Suhar, Al Rustaq and Nizwa Hospitals over a 15-year period. Descriptive findings of brucellosis. 57 confirmed cases. The 57 confirmed cases of Brucella had a mean age of 6 years. Most of the cases were from Dhakhiliya 21 (36.8%) and Batinah 18 (31.6%). Consumption of raw milk was documented in 75% and 41% had animal contact. From 2010, there was a marked rise of the cases with a maximum rise was noticed in 2019 with a total of 10 cases. The main clinical manifestations were fever (92%, n=52), arthritis (44%, n=25), which involved mainly knees and hips. Forty-two had bacteremia, 41% anemia, 10% osteomyelitis/septic arthritis, one case with congenital brucellosis and one case neurobrucellosis (1.8%). Forty cases had positive serology results of which 19 had positive cultures. Most cases had received cotrimoxazole and rifampin as the primary treatment regimen 22 (40%). Four patients relapsed (7%) after treatment completion. This study showed the distribution and clinical characteristics of brucellosis in different regions in the Northern Governorate in Oman. Although the numbers of cases remained low, the gradual increase is concerning for public health and preventive strategies. Further studies are needed to compare this data with the Southern region. Retrospective study with small sample size.

Clinical Profile and Bleeding Outcome of Pediatric Rare Bleeding Disorders: The Royal Hospital’s Experience, Oman

Introduction: Rare Bleeding Disorders (RBDs), a group of inherited coagulation factor deficiencies, are more common in areas with a high rate of consanguineous marriages. Data on the frequency and outcome of RBDs among children in Oman are limited. Aim: This study evaluated the clinical profile and bleeding outcomes of paediatric RBDs at the Royal Hospital, the largest referring centre in Oman, from 2010 to 2020. Methods: This retrospective descriptive cohort study includes all Omani children, less than 13 years of age, diagnosed with RBDs, and followed at the Royal Hospital. The patient’s data was retrieved from the electronic chart system. Results: Forty-one patients (24 males and 17 females) were included. Based on factor level at diagnosis, 34(83%) patients have factor VII deficiency, four (9.7%) patients have factor XIII deficiency, one (2.4%) patient has fibrinogen deficiency, and one patient (2.4%) has factor X deficiency. Four (9.4%) patients required blood transfusion for active bleeding, 15(36.6%) patients were treated on demand with tranexamic acid, and 3(7.3%) patients were on regular prophylaxis with tranexamic acid. The mean period of follow-up was 3.15 years. The majority (87.8%) of patients had no active bleeding, and only two (4.9%) patients developed severe bleeding. The mean annual bleeding rate outcome was 0.2, 0.5, and 7 for patients with FVII, FXIII, and FX, respectively. Conclusions: Omani children with rare bleeding disorders are commonly diagnosed incidentally. They usually do not require active treatment because their bleeding outcome is favourable.

Pediatric Kidney Biopsies in Oman: A Retrospective Study.

To determine the spectrum of kidney diseases in Omani children < 13 years of age and to evaluate the complications following kidney biopsy. This study retrospectively investigated the hospital data of children who underwent kidney biopsies from January 2014 to June 2019 at Royal Hospital, Muscat, Oman. The subjects comprised of 78 children with a median age of 8.0 years (range = 0-13 years). Histopathology showed minimal change disease in 15 (19.2%) children, lupus nephritis in 13 (16.7%), and focal segmental glomerulosclerosis in 13 (16.7%). The most common post-biopsy complications were pain that required analgesia (38; 49.4%) followed by gross hematuria (10; 13.0%). No patient required blood transfusion or surgical intervention. Minimal change disease was the most common histopathological finding in this cohort of Omani children. The records did not mention any major complications following the renal biopsy procedure.

Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.

Nephrotic syndrome (NS) is one of the most common kidney disorders seen by pediatric nephrologists and is defined by the presence of heavy proteinuria (>3.5 g/24 h), hypoalbuminemia (<3.5 g/dL), edema, and hyperlipidemia. Most children with NS are steroid-responsive and have a good prognosis following treatment with prednisolone. However, 10%-20% of them have steroid-resistant nephrotic syndrome (SRNS) and fail to respond to treatment. A significant proportion of these children progress to kidney failure. This retrospective study aimed to determine the underlying genetic causes of SRNS among Omani children below 13 years old, over a 15-year period and included 77 children from 50 different families. We used targeted Sanger sequencing combined with next-generation sequencing approaches to perform molecular diagnostics. We found a high rate of underlying genetic causes of SRNS in 61 (79.2%) children with pathogenic variants in the associated genes. Most of these genetically solved SRNS patients were born to consanguineous parents and variants were in the homozygous state. Pathogenic variants in NPHS2 were the most common cause of SRNS in our study seen in 37 (48.05%) cases. Pathogenic variants in NPHS1 were also seen in 16 cases, especially in infants with congenital nephrotic syndrome (CNS). Other genetic causes identified included pathogenic variants in LAMB2, PLCE1, MYO1E, and NUP93. NPHS2 and NPHS1 genetic variants were the most common inherited causes of SRNS in Omani children. However, patients with variants in several other SRNS causative genes were also identified. We recommend screening for all genes responsible for SRNS in all children who present with this phenotype, which will assist in clinical management decisions and genetic counseling for the affected families.

Assessment of quality of life in children with epilepsy in Oman

PurposeThe study aims to describe the quality of life (QoL) in Omani children with epilepsy at Sultan Qaboos University Hospital, Oman.MethodsOne hundred and one Omani children, with an age range from 5 to 18 years, diagnosed with epilepsy were enrolled in the study over 3 months. Descriptive epidemiology was used to characterize QoL in these children. QoL was measured using the PedsQL (4.0) questionnaire, a 23-item child and parent report questionnaire. Analysis of variance (ANOVA) was used to compare mean QoL scores, and agreement between the QoL reports of children and parents was evaluated using Spearman’s rho; while, Multivariate analysis of variance (MANOVA) was performed to determine differences in subscale ratings.ResultsFactors affecting QoL included family status, income level, social security coverage, type of treatment, seizure frequency, age of onset, and seizure-free duration in years. Children between 5 and 7 years and females, in general, were most affected, as reflected by the overall QoL subscale. Consistency between the children's self-reports and parent proxy reports on the PedsQL™ was moderate to low.ConclusionOmani children with epilepsy have poor QoL, and their psychosocial function is severely affected. Therefore, QoL should be an important outcome measure in managing children with epilepsy rather than just seizure control.

Whole exome sequencing reveals concurrent mutations accounting for a combined phenotype of karyomegalic interstitial nephritis and an autosomal recessive polycystic kidney disease in an Omani child: A case report

Whole exome sequencing reveals concurrent mutations accounting for a combined phenotype of karyomegalic interstitial nephritis and an autosomal recessive polycystic kidney disease in an Omani child: A case report

Clinical and demographic profile of pediatric cataracts among Omani children presenting to a tertiary eye care center, Oman.

This study aimed to know the clinical and demographic profile of pediatric cataracts in Oman. The aim of this study was to describe the demographic and clinical profile of pediatric cataracts in a tertiary care hospital, Oman. This was a hospital-based, retrospective observational study. A retrospective cross-sectional study of all Omani children presented to ophthalmology outpatient at a tertiary hospital, between January 2012 and December 2016. All patients aged <18 years presented with lens opacity were included in the study. Traumatic cataract cases were excluded from the study. SPSS version 22.0 International Business Machines, (Armonk, New York, Unites States of America, dated 8/13/13) used for statistical analysis. Among 379 eyes of 239 patients, 58.6% (140 patients) had bilateral cataracts. Male-to-female ratio was 1.38:1. We arrived at prevalence of 4.32 with 95% confidence interval (3.85, 4.77) of congenital cataract cases/10,000 Omani Children. Most patients (54%) were from either Muscat (28.9%) or A'Sharqiyah (25.1%). The median age of cataracts first noticed by parents was 3 months and the median age of presentation to the eye care unit was 15 months. Patients with positive family history significantly (P = 0.007) presented with bilateral cataracts (75%). About 22.2% of the patients had associated systemic diseases. Among those with systemic association, 77.4% of cases had bilateral cataracts. About 35.4% of eyes had another ocular association. The most common ocular association was squint (11.1%). The most common cataract morphologies at presentation were 20.1% presenting with total lens opacities and 19.8% with posterior subcapsular/posterior lenticonus. A higher demographic distribution of pediatric cataracts was found in Muscat governorate. There was a significant median delay in presentation to the pediatric ophthalmology clinic by 12 months since lens opacity was first noticed by parents.

WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.

Background: Autosomal recessive developmental and epileptic encephalopathy type 28 (DEE28) is a rare genetic disorder that affects children in the early months of life. It is proved to be caused by a pathogenic variance in WW domain-containing oxidoreductase (WWOX) gene. Case presentation: Here, we report a 5-year-old male patient with autosomal recessive DEE28. Whole exome sequencing (WES) test was conducted and resulted in a pathogenic result on WWOX gene pathogenic variant. To our knowledge, these are the first cases reported in Oman. Conclusion: For patients with DEE28, it is essential to take the full family history and genetic workup to assist in the diagnosis. In the future, gene therapy – which is currently being investigated - may help those patients to have a good quality of life and improve the prognosis of the disease.

Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study.

To describe the demographic distribution of cystic fibrosis (CF) in Omani children, estimate the national prevalence, and provide updated mutational panels of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. We conducted a retrospective cross-sectional study of all CF patients who had been diagnosed and followed-up at Sultan Qaboos University Hospital and Royal Hospital in Oman between 2006 and 2020. Data were collected from electronic hospital records and telephone interviews. A total of 227 patients with CF were included in the study. Geographical clusters of the disease were identified in the governorates of Al-Batinah, A'Dhahirah, and A'Dakhiliyah. Parental consanguinity and family history of CF were present in 68.3% and 69.6% of the patients, respectively. The most common CFTR mutation was p.Ser549Arg (52.0%), followed by p.Phe508del (12.3%), and c.2988+1G>A (4.4%). Three novel CFTR mutations were identified, viz., Leu88TyrFs*, p.Asp192Val, and c.4242+1G>C. The estimated prevalence of CF in Oman is 10.3 per 100 000 individuals. Premarital genetic counseling and preimplantation genetic testing are recommended in CF-prevalent regions.

The Parental and Children Report of the Prevalence of Depressive Symptoms in Children and Adolescents Amid the COVID-19 Pandemic: A Cross-Sectional Study From Oman

Objective: Studies from the past decades have shown that mood disorders are common during childhood and adolescence. This study aimed to estimate the point prevalence of depression in Omani children and adolescents during social distancing and lockdown and identify the risk factors for developing depressive symptoms during the COVID-19 pandemic. Methods: This is an analytical cross-sectional study conducted in May 2020, in which all young Omani people attending a mainstream school aged 8–18 years old were eligible to participate. Parents were asked to complete the online survey, which consisted of the parent version of the Mood and Feelings Questionnaire (MFQ-Parent). In addition, the option of a self-reported version (MFQ-Self) was provided in cases where children preferred to fill out the survey themselves. Logistic regression was used to identify the contributing socio-demographic variables associated with depressive symptoms. Results: A total of 445 participants completed the MFQ, out of which 72.1% were parents, and 27.9% were children, adolescents and young people. 13.9% of children and adolescents exhibited depressive symptoms during the COVID-19 pandemic in Oman. The presence of depressive symptoms was associated with increased food intake (OR 1.81, 95% CI 1.00–3.29, p-value <0.05), longer use of smartphones (OR 2.72, 95% CI 1.56–4.73, p-value <0.001), whereas additional entertainment activities during lockdown were protective against depression (OR 0.35 95% CI 0.19–0.64, p-value <0.001). Conclusion: This study from Oman concurs with recent reports of depression being common during the COVID-19 pandemic. Concerted efforts are needed to mitigate this trend and identify high-risk groups during the lockdown period.

Usability Evaluation of Educational Games: An Analysis of Culture as a Factor Affecting Children’s Educational Attainment

Educational games have been employed among Omani schools but those used by local Omani schools were imported and were mostly designed based on western contexts. For Omani children, these games may be culturally inappropriate and difficult to comprehend and follow, impeding children’s learning. Three questionnaires and one observational checklist were used to gather data from 40 respondents (observers). SPSS was used in data analysis. Through experiments, the behavior of Omani students towards the use of imported educational games was examined. Five main factors, namely, efficiency, learnability, memorability, errors, and satisfaction, of educational games for a target user were measured using Hybrid User Evaluation Methodology for Remote Evaluation (HUEMRE), Training Framework for Untrained Observer (TFUO), and Framework on Educational Games Behavior Intention (EGsBI), which are specifically designed frameworks for this purpose. The results of this study explained that the Omani children are facing difficulties in using the imported educational games; furthermore, this study proves that culture, language, animation, and interaction are contributing heavily to benefiting from educational games, and, therefore, these factors shall be highly considered in the process of educational games design to facilitate and ensure children learning; furthermore, the findings of this study enrich the comprehension of how the specified factors positively affect behavioral intention of Omani students in the use of educational games and in improving the behavior intention level of these students.

A cluster analysis to explore the burden of primary caregivers of children with cancer in Oman.

Few studies have sought to evaluate the risk burden of primary caregivers, particularly in Oman. This study aimed to explore whether different risk patterns of caregiver burden exist among the primary caregivers of Omani children with leukemia. A cross-sectional study was conducted between May and November 2020. A total of 101 primary caregivers of children with leukemia were recruited from a public hospital in Oman. The Caregiver Burden Inventory (CBI) was used to assess caregiver burden. A two-step cluster analysis indicated that the cohort was not homogeneous (silhouette value: 1.41). Caregivers in Cluster 1 (n = 42; 41.6%) were relatively older, less educated, and had a higher caregiving burden (mean CBI score: 37.7 ± 19.9). In contrast, caregivers in Cluster 2 (n = 59; 58.4%) were younger, more highly educated, and had a moderate caregiving burden (mean CBI score: 26.3 ± 13.6). As such, Clusters 1 and 2 were characterized as the "high-risk" and "moderate-risk" burden groups, respectively. This study highlights the need for a policy draft to target and reduce the caregiver burden in Oman, Nursing professionals should seek to develop and implement customized care depending on the caregiver risk burden, including additional financial, psychological, and physical support. They should seek to stratify caregivers by risk burden as some groups may require additional support. However, in light of recent precautionary measures due to the current pandemic situation, such services will have to be provided online or via telephone instead of in person for the foreseeable future.

Factors Contributing to the Unmet Needs of Primary Caregivers of Omani Children Diagnosed with Leukemia.

ObjectivesChildhood cancers affect 6.7% of those under 14 in Oman, with leukemia being the most common. The psychological distress of having a child with leukemia is often compounded by perceived unmet needs by the child’s primary caregiver. We aimed to identify factors contributing to perceived unmet needs among primary caregivers of Omani children with leukemia.MethodsWe conducted a cross-sectional study among 119 Omani caregivers accompanying their children to the National Oncology Center, Muscat, Oman. We used an Arabic version of the Needs Assessment of Family Caregivers-Cancer (NAFC-C) questionnaire to assess perceived unmet needs in seven domains.ResultsA total of 119 Omani primary caregivers were contacted; 101 agreed to participate in the study (response rate: 84.9%). Linear regression analysis showed significant correlations between total NAFC-C scores and the child’s (p = 0.014) and caregiver’s age (p < 0.001), and employment status (p = 0.024) and income (p = 0.028). Unmet needs in the obtaining information domain correlated with caregiver’s age (p < 0.001), caring time (p = 0.018), and number of family members (p < 0.001), whereas needs in the maintaining own strength domain correlated with the child’s gender (p = 0.028), time since diagnosis (p = 0.004), caregiver’s age (p < 0.001), and education level (p = 0.019). Unmet needs in the accompanying the sick child domain were correlated with the child’s gender (p = 0.049), caregiver’s gender (p < 0.001), and income (p < 0.001).ConclusionsVarious sociodemographic variables affected the unmet needs of primary caregivers of children with leukemias in Oman. Healthcare professionals in Oman should be aware of such factors to reduce caregiver distress.

Accommodative esotropia: An outcome analysis from a tertiary center in Oman

The aim of this study is to determine the outcome of accommodative esotropia (ET) and influencing factors in young Omani children. In this retrospective cohort, children diagnosed with accommodative ET who had followed up in a tertiary hospital from 2006 to 2011 were identified. Parameters studied included cycloplegic refraction and its change with time, ocular alignment, binocularity, visual acuity (VA), amblyopia, and requirement for surgery. A total of 51 patients were identified. Twenty-four patients were diagnosed with fully accommodative ET (FAET) and 27 with partially accommodative ET (PAET). The mean (± standard deviation [SD]) age of onset and reporting were 2.6 (±1.58) and 3.2 (±1.84) years in the two groups, respectively. The mean (SD) cycloplegic refraction at presentation was 4.50 (±1.66) in the FAET group and 3.65 (±1.67) in the PAET group. Anisometropia was present in 28% of patients. The mean follow-up period was 4.9 years. The following were detected in the final visit. A reduction in amblyopia from 43% to 6% of patients, binocularity in 75% of patients, and a mean increase of 0.64 (±1.3) D in cycloplegic refraction from the first visit (P = 0.005). The mean angle of deviation at near and distance was 29.86 (±15.21) and 17.80 (±10.14) prism diopters, respectively, in FAET patients and 30.15 (±14.83) and 29.53 (±15.53), respectively, in PAET patients. Thirty-seven percent of the PAET patients underwent surgery within 5 years from diagnosis. All participants in this cohort continued to wear glasses in the last follow-up visit. Most children with refractive accommodative ET have an excellent outcome in terms of VA and binocular vision. The PAET group was characterized by delayed reporting, the presence of anisometropia, and lower hypermetropia. Further study is required to determine the possibility of weaning glasses in FAET patients.

De novo NSD1 mutation leading to Sotos syndrome – First case report from Oman

Multiple factors control the growth of a child, including genetics, nutrition, and socioeconomic factors. Referral of tallboys who are otherwise well is very rare. However, sometimes, extraordinary tall stature for the age can be a cause of great concern to the parents. We report a case of an Omani child with a de novo mutation of NSD1 that led to his overgrowth and diagnosis of Sotos syndrome (SoS). This syndrome is a rare genetic disorder. Only two cases of genetically proven diagnosis were reported from the Middle East and North Africa region. Therefore, we describe a case and highlight the comorbidities associated with this condition, encouraging colleagues from the region to report their cases to understand better the phenotype–genotype and the natural history of this disorder in this part of the world.

Ivacaftor in Omani children with cystic fibrosis caused by p.Ser549Arg CFTR mutation.

BackgroundCystic fibrosis (CF) is a multisystemic chronic disease caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein. These mutations are classified in to six classes. Ivacaftor is a CFTR potentiator which partially restores the CFTR function for class III mutations. In Oman, p.Ser549Arg (class III) is the most common mutation (65% of cases). Our study prospectively evaluated the tolerance and clinical efficacy of ivacaftor.MethodsA prospective observational study was conducted at the Royal Hospital, Oman. All children aged 6–18 years who are followed and carry at least one copy of the p.Ser549Arg mutation were started on Ivacaftor and included in the study. Data collected included weight, height, forced expiratory volume in first second (FEV1), sweat chloride concentration, stool elastase level and liver enzymes at baseline and at 12, 24, 36, and 48 weeks after initiation of treatment. The number of CF pulmonary exacerbations one year before and during treatment were compared.ResultsTwenty one children were started on Ivacaftor (90% homozygous for p.Ser549Arg). The mean age was 10.8 (SD ±3.5) years. When compared to baseline, FEV1 significantly improved by a mean of 10.8 (SD ±13.5) percentage points (pp) and 14.3 (SD ±7.5) pp at 12 and 48 weeks respectively. The sweat chloride level significantly dropped from a mean of 107 (SD ±8.5) mmol/l to 38.5 (SD ±22.3) mmol/l at 12 weeks and remained low. The Body Mass Index (BMI) improved by a mean of 1.37 (SD ±1.3) kg/m 2 and 1.9 (SD ±1.35) kg/m 2 at 24 and 48 weeks of treatment respectively. The number of admissions the year before and during treatment reduced significantly from a mean of 2.2 (SD± 1.9) to 0.7 (SD ±1) admission per year. Two children developed transaminitis.ConclusionIvacaftor is well tolerated and resulted in a significant improvement in FEV1, BMI and sweat chloride level in children with p.Ser549Arg CFTR mutation.

Neuroblastoma Among Omani Children

ObjectivesA limited number of publications from the Middle East have focused on neuroblastoma, a common childhood malignancy. This study describes the clinical characteristics and survival outcome of Omani children with neuroblastoma treated at the National Oncology Centre, Oman, between 2010 and 2017.MethodsFrom January 2010 to December 2017, data on Omani children aged less than 13 years with neuroblastoma were retrospectively collected. Survival data were statistically correlated with known prognostic factors, including age, stage of disease, MYCN profile and presence of metastasis.ResultsA total of 56 Omani children were included. in this study. The male to female ratio was 1:1. The mean age at presentation was one year and 10 months. The two most common presenting complaints were body masses (48.2%) and constitutional symptoms (33.9%). Approximately, 54.5% were high risk, 35.7% were intermediate risk and 9.8% were low risk. High-risk neuroblastoma was mainly found in children older than one year (76.6%), with low risk mainly observed in children less than one year of age (80%). The overall survival of all groups combined was 74% (P <0.05); the event-free survival (EFS) was 67% (P <0.05). The overall survival rates over five years for the high-risk, intermediate-risk and low risk groups were 60%, 88% and 100%, respectively, and the EFS was 51%, 79% and 100%, respectively.ConclusionOmani children with neuroblastoma mainly presented with masses or constitutional symptoms and had an advanced disease at presentation which was associated with inferior survival. The survival outcomes were reasonably similar to published international data.