Long-Term Outcome of Surgically Repaired and Non-repaired Double Aortic Arch in Children.

Introduction A double aortic arch (DAA) is a rare congenital vascular anomaly that encircles the trachea and esophagus, resulting in compression of both structures and causing variable symptoms of wheezing, stridor, increased work of breathing, or dysphagia. DAA usually presents in infancy but can be incidentally found later in life. The standard management of DAA is surgical repair. However, observation and follow-up have been recommended in asymptomatic or mild cases. The long-term outcome of surgical repair versus observation is not well-reported. We described the long-term clinical outcome of patients with DAA who were surgically repaired versus non-repaired at our institution.  Methods Electronic medical records were searched for the patients diagnosed with DAA before the age of 18 years. Data from clinical, radiological, and bronchoscopic findings, pulmonary function test (PFT), and cardiopulmonary exercise testing (CPET) were extracted. A structured phone questionnaire of patients' parents regarding past and current symptoms was also conducted. Results A total of 12 patients (eight males four females) with DAA were identified. Median age was 8.5 (1.5-17) years. The age at diagnosis was 60 (1-192) months. Post diagnosis follow-up period was 20 (2-156) months. Five patients were surgically repaired, and seven patients were not repaired. The median age of surgery was five (1-15) years in repaired patients. The phone questionnaire was completed in only 10 patients (five repaired and five non-repaired). Respiratory symptoms in infancy were reported in all repaired and non-repaired patients and were resolved in all five repaired patients and in four of the five non-repaired patients. One non-repaired patient complained of intermittent dyspnea on exertion. Gastrointestinal symptoms were present in infancy in three repaired and three non-repaired patients and were improved in two repaired and one non-repaired patient. PFT was performed in five patients (one repaired, four non-repaired) and showed normal forced expiratory volume in one second (FEV1), forced vital capacity (FVC), and FEV1/FVC in all patients. Low peak expiratory flow (PEF) was seen in the repaired patient and in three of the non-repaired patients. CPET was conducted in four non-repaired patients and showed maximal oxygen consumption (VO2-max) of 66% predicted (58-88), maximal ventilation (VE-max) of 75% predicted (70-104), and ventilatory reserve of 55% predicted (48-104).  Conclusion Long-term clinical outcome is favorable in both repaired and non-repaired patients with DAA even though both groups reported respiratory symptoms during infancy. Therefore, clinical observation is a legitimate option in certain DAA patients.

Incidence and Predictors of Bronchopulmonary Dysplasia Development and Severity Among Preterm Infants Born at 32 Weeks of Gestation or Less.

Background As the most common chronic lung disease (CLD) related to premature birth, bronchopulmonary dysplasia (BPD) is associated with long-term lung disease along with cardiovascular and neurodevelopmental disorders. However, data on the incidence and predictors of BPD in Qatar are lacking. Objectives In this study, we aimed to determine the incidence of BPD among infants born at ≤ 32 weeks gestational age (GA) at our neonatal unit, and identify risk factors for the development of BPD and moderate-severe BPD. Methods This was a retrospective observational cohort study conducted at a single site: a level-III neonatal intensive care unit (NICU) in Qatar. We included 1539 neonates born at ≤ 32 weeks of gestation with birth weights of ≤ 1500 grams who were admitted to the NICU between 2017 and 2020. Univariate and multivariate logistic regression analyses were performed to identify potential factors and predictors and their possible associations with the development of BPD and moderate-severe BPD. We also applied BPD classifications to determine the variability in the incidence of BPD in our cohort according to various definitions (2001 National Institute of Child Health and Human Development (NICHD) Diagnostic Criteria, 2016 Revisions of NICHD Criteria, and 2019 Neonatal Research Network Jensen Grading). Results A total of 451 infants (29.3%) had BPD (BPD group) while 1088 (70.7%) did not (non-BPD group), and the overall incidence of BPD was 29.3%. The most relevant risk factors associated with a higher risk of developing BPD identified in the multivariate logistic regression analysis were appropriate weight for gestational age (adjusted OR (aOR) 3.67, 95%CI 2.02-6.67, P < 0.001), presence of patent ductus arteriosus (PDA) (aOR 2.61, 95%CI 1.86-3.66, P < 0.001), late-onset sepsis (aOR 2.16; 95%CI 1.29-3.62; P = 0.003), and use of invasive ventilation (aOR 1.90; 95%CI 1.35-2.69; P < 0.001). The most relevant independent risk factors associated with a higher risk for developing moderate-severe BDP were postnatal steroids (aOR 7.12, 95%CI 3.77-13.44, P < 0.001), use of inhaled nitric oxide (aOR 3.65, 95%CI 1.48-9.01, P = 0.005), use of invasive ventilation (aOR 2.13, 95%CI 1.13-4.00, P = 0.019), late-onset sepsis (aOR 2.07, 95%CI 1.10-3.91, P = 0.025), and male sex (aOR 2.04, 95%CI 1.24-3.36, P = 0.005). The difference in the distribution of BPD severity across the three different definitions of NICHD was significant (P < 0.001). Conclusion The results of this study showed that the incidence of BPD remained high in infants born at ≤ 32 weeks of gestational age and birth weight <1500 g with appropriate weight for gestational age. The presence of PDA at birth or first echocardiography, late-onset sepsis, and use of invasive ventilation were significant risk factors for the incidence of BPD. The identification of risk factors will contribute to the implementation of lung-protective strategies for at-risk infants who may benefit from potential preventive therapy.

The clinical features and impact of SARS-CoV-2/COVID-19 infection in children with Cystic Fibrosis (CF): A Qatari experience.

BACKGROUND: SARS-CoV-2 in children with cystic fibrosis (CF) has been reported to cause mild illness without pre-existing severe lung disease. This review described the clinical presentation and course of COVID-19 infection in children with CF in Qatar. METHODS: The pediatric CF registry of 51 patients in Qatar was reviewed for COVID-19 cases from February 2020 to February 2022. Demographics, vaccination status, symptoms, and course were reviewed. Data were expressed as median, range, frequencies, and percentages. RESULTS: The study included eight patients with CF below 18 years of age infected with COVID-19. The incidence of COVID-19 in children with CF was 15.7%. The median age was 11 (2-18) years. Half of the cohort were males. Seven patients were pancreatic sufficient (I1234V mutation), and one was pancreatic insufficient (3129del4 mutation). The median baseline FEV1 was 91 (78-107%) predicted. None had received CFTR modulators or undergone a lung transplant. Three patients were vaccinated before their infections. Two of them were asymptomatic. Six patients (75%) had a cough and flu-like symptoms. Three patients had a fever. Two patients were hospitalized due to pulmonary exacerbation; both had mild CF-lung disease. None required respiratory support. CONCLUSION: We report a favorable outcome of COVID-19 infection in children with CF, similar to published international studies. Our findings are attributable to the community-dominant milder CFTR mutation, precautionary measures, and causative COVID-19 strain. More longitudinal data are needed to study these factors as potential protective mechanisms.

Drug Reaction with Eosinophilia and Systemic Symptoms Syndrome in a Child with Cystic Fibrosis.

Background: Drug reaction with eosinophilia and systemic symptoms (DRESSs) syndrome is an idiosyncratic drug-induced reaction that rarely occurs in children but can lead to serious complications. It manifests most commonly with fever, extensive skin eruptions, and eosinophilia. Symptoms typically develop two to six weeks after the initiation of the inciting drug. Visceral organ involvement especially the liver can also occur and if not recognized early and the inciting drug is not stopped immediately, it can lead to liver failure. Therefore, early diagnosis is important but can be very challenging because of disease rarity, lack of a diagnostic test, and its overlap with other common pediatric allergic and infectious conditions. Case Presentation. A 2.5-year-old boy with known diagnosis of cystic fibrosis, bilateral bronchiectasis, pancreatic insufficiency, and chronic airway colonization with Pseudomonas aeruginosa was admitted to our hospital with acute pulmonary exacerbation of CF lung disease. He was treated with intravenous piperacillin-tazobactam and intravenous amikacin in addition to airway clearance. On day 18 of treatment, the patient developed high grade fever followed by diffuse erythematous and pruritic maculopapular rash. Blood tests showed high eosinophilia, high C-reactive protein (CRP), and high liver enzymes levels. The clinical features and the laboratory findings were consistent with the DRESS syndrome. Therefore, all antibiotics were discontinued. Progressive resolution of the symptoms was observed within two days. Laboratory abnormalities were also normalized in the follow-up clinic visit 4 months later. Conclusion: Our case demonstrates the importance of early recognition of the DRESS syndrome in children who develop fever and skin rashes with eosinophilia while undergoing long-term antibiotic treatment. Prompt discontinuation of the offending drug is the cornerstone therapy and results in the resolution of symptoms and prevention of serious complications.

Pediatric outpatient non-invasive ventilation program: Reflections on the first experience from the Middle East.

Long-term noninvasive ventilation (NIV) is being progressively used in children. The current guidelines recommend NIV initiation in the hospital during overnight polysomnography (PSG) titration study. Due to the logistic, socioeconomic, and financial difficulties including bed availability, an outpatient program for NIV initiation and patients/parents counseling to prevent delay and provide cost-effective care has been commissioned. Hence, this study reports on the clinical outcome of our program as it represents the first reported experience from the middle east. A retrospective review of electronic medical charts was conducted for all patients with PSG-confirmed sleep-related breathing disorders (SRBD) who were evaluated and treated in the NIV clinic in the pediatric pulmonary clinic at Sidra Medicine from January 2020 to November 2021. Patients' data included demographics, PSG results, and NIV clinic records. The results show that twenty-eight patients (17 male, 11 female) were included during the study period. The patients' median age at NIV initiation was 11 ± 5.17 years. The median BMI was 32.72 ± 15.91 kg/m2. The most common diagnosis was morbid obesity in 9 (32%) of the patients. The identified SRBD based on the diagnostic PSG were obstructive sleep apnea in 21 patients, hypoventilation in 3 patients, mixed apnea in 3 patients, and central apnea in 1 patient. The median total Apnea-Hypopnea Index (AHI) was 12.7 (0.7-153.9) events per hour. The main reason for the initial NIV clinic visit was NIV initiation in 19 patients. Upon follow-up, six patients were successfully weaned off NIV support by the treating pulmonologist. Five patients refused to use NIV at home. Fifteen out of the remaining seventeen patients used NIV ≥  4 hours per night (subjective adherence: 88%). Twelve patients used the NIV for ≥  24 nights per month (70.6%). All parents reported that the clinic experience was beneficial and helped them to be more comfortable with applying the NIV machine at home. In conclusion, pediatric NIV outpatient programs are achievable and beneficial, especially in developing countries. Pediatric NIV clinics managed by a specialized and experienced team play important role in the initiation and follow-up of NIV support. They provide alternative pathways for the care of pediatric patients, education, and support of their families, and decrease the load on intensive care and sleep laboratory units. Studies about cost-effectiveness are needed to evaluate the impact of implementing outpatient NIV programs on sleep laboratories and hospital admission rates.

Successful management of congenital bronchial web in an adolescent using bronchoscopic ablation: A case report and review of literature.

Airway webs are abnormal fibrous membranes in the airway lumen that rarely occur but can lead to serious or even life-threatening symptoms because of critical airway obstruction. Airway webs can be acquired or congenital. Acquired webs are likely to be secondary to trauma, infections, or neoplasm. Congenital laryngeal, subglottic and tracheal webs present early in infancy or childhood and are more common than congenital bronchial webs. To our knowledge, there are a few reports on the bronchial web in the literature, and the true incidence of these lesions is unknown as many probably go undetected across the lifespan. We here report a case of a congenital bronchial web and provide a review of the literature of all reported bronchial webs. Our patient is a teenage boy who was diagnosed with a congenital bronchial web obstructing the right main-stem bronchus (RMB) and causing right lung hypoplasia and persistent right middle and right lower lobe collapse. The web was treated successfully using endoscopic ablation by argon plasma coagulation and balloon dilatation. Treatment resulted in remarkable relief of right main stem obstruction and significant improvement in right lung collapse as well as clinical, spirometric, and radiological findings. Due to the rarity of bronchial web, the clinical knowledge and the bronchoscopic interventional strategies demonstrated of this report make it relevant. Furthermore, it emphasizes that early diagnosis and management lead to favorable clinical outcomes.

A breakthrough effect of gene replacement therapy on respiratory outcomes in children with spinal muscular atrophy.

INTRODUCTION: Spinal muscular atrophy (SMA) is an inherited progressive neuromuscular disorder characterized by generalized hypotonia, respiratory failure and early death. The introduction of gene replacement therapy (GRT) modified the natural history of the disease. However, more data is needed to understand the long-term effect of GRT on measurable respiratory outcomes. We report the respiratory outcomes in our cohort of patients with SMA post-GRT in 2-year period. METHODS: A retrospective chart-review of genetically confirmed children with SMA who received GRT between 2019 and 2021 in Qatar. The evaluated respiratory outcomes were chronic respiratory support, respiratory hospitalizations, escalation of respiratory support and polysomnography results before and after GRT. Nonrespiratory outcomes; nutritional status, swallowing, and motor functions; were also assessed. RESULTS: A total of 11 patients (9 patients with SMA-1 and 2 patients with SMA-2) received GRT at a median age of 12 months and 22 months in patients with SMA-1 and SMA-2, respectively. All patients were successfully weaned off Noninvasive ventilation (NIV) except one patient who remained on mechanical ventilation through tracheostomy tube. The annualized hospitalization rate dropped by half after GRT. The average length of stay (LOS) in intensive care unit (ICU) decreased by 17.32 days/patient/year after GRT. Duration of required escalation of respiratory support during acute hospitalizations has dropped by 18.56 days/patient/year post-GRT. CONCLUSION: We report favorable respiratory outcomes of GRT in our cohort. GRT resulted in discontinuation of chronic respiratory support in majority of ventilated patients. GRT also resulted in decreased respiratory hospitalization rate, hospital-LOS, ICU-LOS, and need for escalation of ventilatory support.

Outcome of Newborns with Tracheoesophageal Fistula: An Experience from a Rapidly Developing Country: Room for Improvement.

Methods: This is a retrospective review of the medical electronic charts of patients with TEF that were followed at Sidra Medicine in the state of Qatar. The review included the patients who were operated upon in the period of 2011-2021 but continued to follow at our institution in the period of 2018-2021. Demographic data, associated anomalies, preoperative, operative, and postoperative courses, and growth parameters were collected. Results: A total of 35 patients with TEF (24 males and 11 females) were collected. 49% were full term. We identified seven patients (20%) with isolated TEF, TEF with VACTERL association in 29% of our patients, other chromosomal anomalies in 17%, or associated with other anomalies (not related to VACTERL) in 34% of the patients. The majority of the patients (94%) were of type C-TEF (TEF with esophageal atresia-EA/TEF). All patients were operated except for one patient who died at 2 days of life due to cardiac complications. Median age at which surgery was performed was 2 days (range 1-270 days). Median follow-up was 32 months (range 7-115 months). Immediate postoperative complications were encountered in eleven patients (33%) and included anastomosis leak in 12%, air leak in 6%, sepsis in 6%, chylothorax in 3%, vocal cord palsy and fistula recurrence (combined) in 3%, and failure of TEF closure in 3% of the patients. Long-term respiratory complications were encountered in 43% of our patients. Long-term gastrointestinal complications included gastroesophageal reflux (GERD) in 63%, dysphagia in 31%, and anastomotic stricture in 34% of the patients. Growth was affected in around a quarter of the patients at 6 months after surgery and 22% at 12-month assessment postoperatively. While only five patients died at our institution, only one was directly related to failure of TEF closure and postoperative complications. Conclusion: This descriptive study reports the clinical outcome of TEF from a rapidly developing country. The distribution of the patients' characteristics and postoperative complications was almost comparable to those from developed countries. This study would aid in addressing the prognostic factors and establishment of evidence-based management pathways of newborns with TEF to improve the clinical outcome in our center and other pediatric tertiary centers in developing countries.

Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature.

Farber disease (FD) is an extremely rare autosomal recessive disorder caused by the deficiency of lysosomal acid ceramidase. It is characterized by a triad of progressive multiple joints' involvement, subcutaneous nodules, and hoarseness of voice. In this report, we describe a 23-month-old boy diagnosed with Farber disease. Initially, he was misdiagnosed as juvenile idiopathic arthritis (JIA) because he presented with joint swelling. However, the associated hoarseness of voice, subcutaneous nodules, and poor response to treatment all have questioned the diagnosis of JIA and prompted the suspicion of Farber disease as an alternative diagnosis. The diagnosis was later confirmed genetically by the presence of a homozygous pathogenic variant (p.Gly213Glu; c.638G > A in exon 8) in the ASAH1 gene. The present case illustrates the diagnostic journey of a child with Farber disease as well as highlights that FD should be considered in the differential diagnosis of early onset arthritis in the presence of subcutaneous nodules and/or hoarseness of voice.

Use of Intravenous Pulse Steroids to Treat Allergic Bronchopulmonary Aspergillosis in a Non-Compliant Asthmatic Adolescent.

Allergic bronchopulmonary aspergillosis (ABPA) is an immune-mediated inflammatory airway disease that predominantly affects patients with cystic fibrosis (CF) and, less commonly, patients with asthma. ABPA can lead to irreversible lung injury and bronchiectasis if not treated early and aggressively. Long-term oral steroids are the standard therapy of ABPA. However, it is associated with an increased risk of steroids side effects and possible medication noncompliance. Monthly intravenous pulse methylprednisolone (IV-PS) has been used as an alternative to oral steroids to treat CF-related ABPA with a reportedly similar clinical response and less steroid-related side effects. To our knowledge, the use of IV-PS in asthma-related ABPA has not been previously reported. We report the successful management of asthma-related ABPA in an adolescent using intravenous pulse methylprednisolone in addition to oral itraconazole with no significant steroid-related side effects.

Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar.

Pleuropulmonary blastoma (PPB) is a rare intrathoracic malignancy, which arises from the lung parenchyma and/or pleura. PPB has strong genetic association with mutations in DICER1 gene. Despite being rare, PPB is the most common lung tumor in children below 6 years of age. International registry of the disease has a total of 350 cases worldwide. We report the first case of PPB in the state of Qatar, which presented as a large cystic lung lesion. The patient was first thought to have benign congenital pulmonary airway malformation (CPAM) based on chest X-ray findings. The diagnosis of PPB was suspected based on chest CT scan findings and was confirmed after surgical resection of the cystic mass. The case highlights the need to consider PPB in the differential diagnosis of cystic lung lesions in children and the need for further radiological imaging (i.e., CT scan), genetic testing, and/or excisional biopsy to confirm the diagnosis.

Parental Perception of a Dental Home for Children with Special Needs.

BACKGROUND AND OBJECTIVES: There is a major gap in the literature that addresses parental perception of acquiring a dental home for children with special healthcare needs (CSHCN). The objectives of this study are to assess parental perceptions and challenges in acquiring a dental home for their CSHCN. METHODS: Cross-sectional prospective study using a questionnaire. RESULTS: A total of 302 questionnaires were completed by caregivers. More than 70% of children had developmental delay, 20% had musculoskeletal disabilities, and the rest had respiratory compromise on non-invasive ventilation, learning disability, and visual and hearing disabilities; 75% of the caregivers do not believe pediatricians are qualified to contribute in oral hygiene. Moreover, 70% of children had not had a routine dentist visit in the 12 months preceding the interview. The reasons given for the lack of such visits included the long time of appointments (25%), difficulty in child's mobility (17%), the perception that dental care is expensive (9%), and a lack of dentist experience in dealing with children with special needs (5%). When asked what factors would encourage caregivers to choose a dental home for their children, 63% mentioned quick appointments, followed by dentists specialized in children with special needs (51%), child friendly atmosphere (21%), low cost (26.6%), close to home (20%), and others (6%). Interestingly, the majority of parents (75%) believed that the primary pediatrician of the child should initiate the dental home process. CONCLUSION: Despite proper resources, children with special healthcare needs lack proper oral healthcare. This could be attributed to the lack of a dental home. A pediatrician's role is crucial in initiating the process of acquiring a dental home for this special population.

Child abuse and neglect in a rapidly developing country: Parents' perspectives.

PURPOSE: To identify parental awareness and knowledge regarding child abuse and neglect in the State of Qatar. METHODS: A cross-sectional study using a questionnaire was conducted at Hamad Medical Corporation, the only tertiary pediatric hospital in the State of Qatar at the time of the study. Parents of children of all ages were offered a questionnaire that included demographic details, parental knowledge, and awareness of child abuse and neglect. RESULTS: 300 questionnaires were completed (response rate = 95%). More than 70% of parents were older than 30 years of age, 60% of them were females, and 66% were college graduates. The majority of the participants stated their familiarity about child abuse, and 6% witnessed morbidity or mortality due to child abuse in the society. Despite the identified laws, only 50% of the parents were aware of laws restricting child abuse. In regards to children with special needs, only 16% of the participants agreed that disabled children are at a higher risk of abuse compared to healthy children, while 33% were neutral and 52% disagreed. In addition, one-fifth of the respondents stated that hitting is discipline, while 63% disagreed. Almost one-third of the respondents agreed that hitting hands and buttock or hitting with soft objects is acceptable form of discipline. Unexpectedly, one-quarter of participants stated that it is okay to hit a child as long as no damage incurs. As for verbal abuse, around one-third of parents stated that yelling is not a form of child abuse, and that yelling does not affect growth and development. Comparing both corporal and verbal abuse, approximately 70% of parents stated that yelling is less harmful than hitting. In terms of child neglect, around half of the respondents agreed with the statement "Leaving a child (<5 years) unattended at home is a form of neglect," while 42% were neutral. Finally, approximately 50% of the participants believed that it is okay to depend on nannies in assisting their children in eating and using the bathroom. CONCLUSION: Parents residing in the State of Qatar believe that they have a good knowledge regarding child abuse and neglect. However, this study shows many deficiencies in parental knowledge of child abuse and neglect. Parents' attitudes and perceptions are considered indispensable targets for community health intervention.

Effect of Maternal Preeclampsia on Hematological Profile of Newborns in Qatar.

Background: Preeclampsia is a major cause of pregnancy-related maternal, fetal, and neonatal morbidities and mortalities. We aimed to review the effect of maternal preeclampsia on the hematological profile of newborns in the Qatari population. Methods: In this case-control study, we reviewed data and complete blood count results of neonates born to Qatari women diagnosed of preeclampsia in 2017 in comparison with data of a control group. Statistical analysis was done using unpaired t-test, chi-square test, and logistic regression analysis. Results: A total of 108 neonates of women with preeclampsia and 103 neonates of healthy normotensive women were recruited. The mean weight, length, head circumference, placental weight, and gestational age were significantly lower (P < 0.05) in neonates born to women with preeclampsia. Only 13% of babies born to women with preeclampsia developed neonatal thrombocytopenia which is significantly higher compared to only 2% in the control group (chi-square χ 2 = 9.14; P < 0.05) in neonates born to women with preeclampsia. No significant difference (P > 0.05) was noted between the two groups regarding the white blood cells (WBC) or the absolute neutrophilic count (ANC). Multivariate logistic regression showed that the gestational age, birth weight, length, and ANC had significant association with preeclampsia (P < 0.05). Conclusions: We found that there was a positive association between preeclampsia and neonatal thrombocytopenia in the Qatari population. Prematurity, placenta insufficiency, fetal growth restriction, and need for neonatal resuscitation were significantly higher in babies born to women with preeclampsia. We recommend that hematological parameters of neonates of those women should be properly monitored to reduce the chances of developing complications.