Indications and practice of home invasive mechanical ventilation in children.

BACKGROUND: Developments and technological advances in neonatal and pediatric intensive care units have led to a prolonged life expectancy of pediatric patients with chronic respiratory failure. Therefore, the number of hemodynamically stable pediatric patients with chronic respiratory failure who need mechanical ventilator assistance throughout the day has significantly increased. AIMS: Numerous conditions, including parenchymal lung diseases, airway disorders, neuromotor disorders, or respiratory defects, can lead to chronic respiratory failure. For individuals who cannot tolerate non-invasive mechanical ventilation (NIMV), invasive mechanical ventilation (IMV) is the only suitable choice. Due to increasing need, mechanical ventilator technology is continuously evolving. RESULTS: As a result of this process, home-type mechanical ventilators have been produced for patients requiring long-term IMV. Patients with chronic respiratory failure can be safely monitored at home with these ventilators. DISCUSSION: Home follow-up of these patients has many benefits such as an increase in general quality of life and a positive contribution to their emotional and cognitive development. CONCLUSION: In this compilation, indications for home-based IMV, features of home invasive mechanical ventilators (HMVs), patient monitoring, and the detailed advantages of using IMV at home will be elucidated.

Management of respiratory problems in children on home invasive mechanical ventilation.

The management of respiratory problems in children on home invasive mechanical ventilation (HIMV) is a complex and challenging task. In recent years, with appropriate family education, these patients have been able to be discharged from the hospital and continue their treatment at home. The population of pediatric patients dependent on HIMV has been increasing worldwide, presenting unique and varying care needs. Management of these patients involves addressing ventilator settings, monitoring respiratory status, ensuring airway safety, and providing continuous support and education to patients and their caregivers. Despite the completion of home settings and family education, children on HIMV may encounter various respiratory problems during home follow-up. Prevention and timely management of these complications are crucial to improving patient outcomes. This article summarizes the most significant respiratory problems in children on HIMV and the management strategies for each problem are discussed, emphasizing the importance of appropriate aspiration techniques, regular monitoring, adequate training of caregivers, and a well-prepared emergency plan.

Childhood interstitial lung disease in Turkey: first data from the national registry.

The childhood interstitial lung diseases (chILD) Turkey registry (chILD-TR) was established in November 2021 to increase awareness of disease, and in collaboration with the centers to improve the diagnostic and treatment standards. Here, the first results of the chILD registry system were presented. In this prospective cohort study, data were collected using a data-entry software system. The demographic characteristics, clinical, laboratory, radiologic findings, diagnoses, and treatment characteristics of the patients were evaluated. Clinical characteristics were compared between two main chILD groups ((A) diffuse parenchymal lung diseases (DPLD) disorders manifesting primarily in infancy [group1] and (B) DPLD disorders occurring at all ages [group 2]). There were 416 patients registered from 19 centers. Forty-six patients were excluded due to missing information. The median age of diagnosis of the patients was 6.05 (1.3-11.6) years. Across the study population (n = 370), 81 (21.8%) were in group 1, and 289 (78.1%) were in group 2. The median weight z-score was significantly lower in group 1 (- 2.0 [- 3.36 to - 0.81]) than in group 2 (- 0.80 [- 1.7 to 0.20]) (p < 0.001). When we compared the groups according to chest CT findings, ground-glass opacities were significantly more common in group 1, and nodular opacities, bronchiectasis, mosaic perfusion, and mediastinal lymphadenopathy were significantly more common in group 2. Out of the overall study population, 67.8% were undergoing some form of treatment. The use of oral steroids was significantly higher in group 2 than in group 1 (40.6% vs. 23.3%, respectively; p = 0.040).   Conclusion: This study showed that national registry allowed to obtain information about the frequency, types, and treatment methods of chILD in Turkey and helped to see the difficulties in the diagnosis and management of these patients. What is Known: • Childhood interstitial lung diseases comprise many diverse entities which are challenging to diagnose and manage. What is New: • This study showed that national registry allowed to obtain information about the frequency, types and treatment methods of chILD in Turkey and helped to see the difficulties in the diagnosis and management of these patients. Also, our findings reveal that nutrition should be considered in all patients with chILD, especially in A-DPLD disorders manifesting primarily in infancy.

Psychosocial factors affecting the quality of life of parents who have children with home mechanical ventilation.

INTRODUCTION: Most children with medical complexity have to live with home mechanical ventilation (HMV). Undertaking the care of a child with HMV creates a psychosocial burden on parents. This study investigated the impact of selected potential determinants on the quality of life of parents who have children with HMV. METHODS: A cross-sectional survey study was conducted using a structured questionnaire to determine the sociodemographic characteristics of the parents. The World Health Organization Quality of Life Assessment-Brief version, the Beck Depression Inventory (BDI), and the Multidimensional Scale of Perceived Social Support were applied. RESULTS: A total of 35 participants responded to the questionnaires. Paired data from mothers and fathers were obtained from 12 families. A moderately significant positive correlation was found between the perceived social support levels of the parents and all domains of the quality of life scale (for the physical domain: r = .455, p = .006; for the psychological domain: r = .549, p = .001; for the social domain: r = .726, p = .000; and for the environment domain: r = .442, p = .008). A moderate negative relationship was found between parents' perceived social support levels and BDI scores (r = -.557, p = .001). The multivariate regression analysis determined that being a mother, quitting a job to become a caregiver, being the only caregiver at home, and having a neurological/neuromuscular disease as the primary disease of the child were associated with lower scores in more than one quality of life domain. CONCLUSION: Our results emphasize that appropriate social support is important for improving the quality of life scores of parents of children with HMV.

Caregiver education before hospital discharge for children on home-invasive mechanical ventilation.

Children on home invasive mechanical ventilation necessitate specialized equipment, continuous monitoring, and multidisciplinary care. Transitioning these children from hospital to home care is complex, demanding careful planning. Guidelines and observational studies emphasize the importance of a standardized, comprehensive, and staged educational approach for caregiver education in discharge planning, yet program variations persist, lacking standardized checklists. This review aims to offer insights into crucial factors for a successful transition from hospital to home care for children using home-invasive mechanical ventilation while also developing comprehensive caregiver checklists to ensure high-quality care, taking into account families' socioeconomic status.

Identifying and managing psychosocial problems in children on home invasive mechanical ventilation.

Home invasive mechanical ventilation (HIMV) has allowed children with chronic respiratory failure to be discharged from the hospital, giving them a chance to return to their home life which is more natural for children to grow up. Many technological tools necessary for their survival have also caused restrictions in the social lives of these children. Psychosocial problems will be inevitable in this group of patients, who often have to cope with more than one medical problem. Identifying the impact of HIMV on these problems will enable these children to have a better quality of life. While the most objective method used to determine the psychosocial status of these children is quality of life measurement, more studies are needed to determine the ideal questionnaire. This review deals with psychosocial problems on HIMV.

Patients with cystic fibrosis who could not receive the CFTR modulator treatment: What did they lose in 1 year?

BACKGROUND: Cystic fibrosis (CF) is an autosomal recessive disorder caused by CF transmembrane conductance regulator (CFTR) genetic variants. CFTR modulators improve pulmonary function and reduce respiratory infections in CF. This study investigated the clinical and laboratory follow-up parameters over 1 year in patients with CF who could not receive this treatment. METHODS: This retrospective cohort study included 2018 and 2019 CF patient data from the CF registry of Turkey. Demographic and clinical characteristics of 294 patients were assessed, who had modulator treatment indications in 2018 but could not reach the treatment. RESULTS: In 2019, patients younger than 18 years had significantly lower BMI z-scores than in 2018. During the 1-year follow-up, forced expiratory volumes (FEV1) and FEV1 z-scores a trend toward a decrease. In 2019, chronic Staphylococcus aureus colonization, inhaled antipseudomonal antibiotic use for more than 3 months, oral nutritional supplement requirements, and oxygen support need increased. CONCLUSIONS: Patients who had indications for modulator treatments but were unable to obtain them worsened even after a year of follow-up. This study emphasized the importance of using modulator treatments for patients with CF in our country, as well as in many countries worldwide.

Clinical characteristics of patients requiring lung transplantation referral in national cystic fibrosis registry data.

BACKGROUND: We aimed to determine the number of cystic fibrosis (CF) patients recorded in the Cystic Fibrosis Registry of Türkiye (CFRT) who were in need of lung transplantation (LT) referral and examine clinical differences between patients who were LT candidates due to rapid forced expiratory volume in one second (FEV1) decline and LT candidates without rapid FEV1 decline in the last year to identify a preventable cause in patients with such rapid FEV1 decline. METHODS: All CF patients recorded in the CFRT in 2018 were evaluated in terms of LT. Patients were divided into those with FEV1 below 50% and in need of LT due to a decrease of 20% or more in the previous year (Group 1) and those who did not have FEV1 decline of more than 20% in the previous year but had other indications for LT (Group 2). Demographic and clinical features were compared between the two groups. RESULTS: Of 1488 patients registered in CFRT, 58 had a need for LT. Twenty patients were included in Group 1 and others in Group 2. Our findings did not reveal any significant variations in treatment, chronic infection status, or complications between the two groups. The average weight z-score was significantly higher in Group 1. Positive correlations were detected between weight z-score and FEV1 in 2017 in Group 1 and between FEV1 values in 2017 and 2018 in Group 2. CONCLUSIONS: There appears to be a relationship between the nutritional status and weight z-scores of CF patients and pulmonary function, which may indirectly affect the need for lung transplantation referral.

Diffuse alveolar haemorrhage in children: an international multicentre study.

Background: Paediatric diffuse alveolar haemorrhage (DAH) is a rare heterogeneous condition with limited knowledge on clinical presentation, treatment and outcome. Methods: A retrospective, descriptive multicentre follow-up study initiated from the European network for translational research in children's and adult interstitial lung disease (Cost Action CA16125) and chILD-EU CRC (the European Research Collaboration for Children's Interstitial Lung Disease). Inclusion criteria were DAH of any cause diagnosed before the age of 18 years. Results: Data of 124 patients from 26 centres (15 counties) were submitted, of whom 117 patients fulfilled the inclusion criteria. Diagnoses were idiopathic pulmonary haemosiderosis (n=35), DAH associated with autoimmune features (n=20), systemic and collagen disorders (n=18), immuno-allergic conditions (n=10), other childhood interstitial lung diseases (chILD) (n=5), autoinflammatory diseases (n=3), DAH secondary to other conditions (n=21) and nonspecified DAH (n=5). Median (IQR) age at onset was 5 (2.0-12.9) years. Most frequent clinical presentations were anaemia (87%), haemoptysis (42%), dyspnoea (35%) and cough (32%). Respiratory symptoms were absent in 23%. The most frequent medical treatment was systemic corticosteroids (93%), hydroxychloroquine (35%) and azathioprine (27%). Overall mortality was 13%. Long-term data demonstrated persistent abnormal radiology and a limited improvement in lung function. Conclusions: Paediatric DAH is highly heterogeneous regarding underlying causes and clinical presentation. The high mortality rate and number of patients with ongoing treatment years after onset of disease underline that DAH is a severe and often chronic condition. This large international study paves the way for further prospective clinical trials that will in the long term allow evidence-based treatment and follow-up recommendations to be determined.

The Management of Asymptomatic Congenital Pulmonary Airway Malformation: Results of a European Delphi Survey.

Consensus on the optimal management of asymptomatic congenital pulmonary airway malformation (CPAM) is lacking, and comparison between studies remains difficult due to a large variety in outcome measures. We aimed to define a core outcome set (COS) for pediatric patients with an asymptomatic CPAM. An online, three-round Delphi survey was conducted in two stakeholder groups of specialized caregivers (surgeons and non-surgeons) in various European centers. Proposed outcome parameters were scored according to level of importance, and the final COS was established through consensus. A total of 55 participants (33 surgeons, 22 non-surgeons) from 28 centers in 13 European countries completed the three rounds and rated 43 outcome parameters. The final COS comprises seven outcome parameters: respiratory insufficiency, surgical complications, mass effect/mediastinal shift (at three time-points) and multifocal disease (at two time-points). The seven outcome parameters included in the final COS reflect the diversity in priorities among this large group of European participants. However, we recommend the incorporation of these outcome parameters in the design of future studies, as they describe measurable and validated outcomes as well as the accepted age at measurement.

The success of the Cystic Fibrosis Registry of Turkey for improvement of patient care.

BACKGROUND: Cystic fibrosis (CF) registries play an essential role in improving disease outcomes of people with CF. This study aimed to evaluate the association of newly established CF registry system in Turkey on follow-up, clinical, growth, treatment, and complications of people with this disease. METHODS: Age at diagnosis, current age, sex, z-scores of weight, height and body mass index (BMI), neonatal screening results, pulmonary function tests, history of meconium ileus, medications, presence of microorganisms, and follow-up were evaluated and compared to data of people with CF represented in both 2017 and 2019 registry data. RESULTS: There were 1170 people with CF in 2017 and 1637 in 2019 CF registry. Eight hundred and fourteen people were registered in both 2017 and 2019 of whom z-scores of heights and BMI were significantly higher in 2019 (p = 0.002, p =0.039, respectively). Inhaled hypertonic saline, bronchodilator, and azithromycin usages were significantly higher in 2019 (p =0.001, p = 0.001, p = 0.003, respectively). The percent predicted of forced expiratory volume in 1 sec and forced vital capacity were similar in 2017 and 2019 (88% and 89.5%, p = 0.248 and 84.5% and 87%, p =0.332, respectively). Liver diseases and osteoporosis were significantly higher, and pseudo-Bartter syndrome (PBS) was significantly lower in 2019 (p = 0.011, p = 0.001, p = 0.001, respectively). CONCLUSIONS: The z-scores of height and BMI were higher, the use of medications that protect and improve lung functions was higher and incidence of PBS was lower in 2019. It was predicted that registry system increased the care of people with CF regarding their follow-up. The widespread use of national CF registry system across the country may be beneficial for the follow-up of people with CF.

Clinical findings of patients with cystic fibrosis according to newborn screening results.

BACKGROUND: Cystic fibrosis (CF) is a lethal recessive genetic disease caused by loss of function associated with mutations in the CF trans-membrane conductance regulator. It is highly prevalent (approximately 1 in 3,500) in Caucasians. The aim of this study was to compare demographic and clinical features, diagnostic tests, treatments, and complications of patients with CF whose newborn screening (NBS) with twice-repeated immune reactive trypsinogen testing was positive, normal, and not performed. METHODS: In this study, 359 of all 1,488 CF patients recorded in the CF Registry of Turkey in 2018, who had been born through the process of NBS, were evaluated. Demographic and clinical features were compared in patients diagnosed with positive NBS (Group 1), normal (Group 2), or without NBS (Group 3). RESULTS: In Group 1, there were 299 patients, in Group 2, there were 40 patients, and in Group 3, there were 20 patients. Among all patients, the median age at diagnosis was 0.17 years. The median age at diagnosis was higher in Groups 2 and 3 than in Group 1 (P = 0.001). Fecal elastase results were higher in Group 2 (P = 0.033). The weight z-score was lower and chronic Staphylococcus aureus infection was more common in Group 3 (P = 0.017, P = 0.004, respectively). CONCLUSIONS: Frequency of growth retardation and chronic S. aureus infection can be reduced with an early diagnosis using NBS. In the presence of clinical suspicion in patients with normal NBS, further analyses such as genetic testing should be performed, especially to prevent missing patients with severe mutations.

Risk factors for first nonscheduled hospital admissions of pediatric patients on home mechanical ventilation.

OBJECTIVES: The number of children on home mechanical ventilation (HMV) has increased. Understanding the reasons for nonscheduled hospital admissions during HMV is critical. This study aims to investigate the risk factors of first nonscheduled hospital admissions of pediatric patients on HMV. METHODS: A retrospective analysis of patients on HMV between May 1, 2014 and October 1, 2020 was performed. Patients' demographic characteristics, duration of the education of the primary caregiver; time of first nonscheduled visit; and type of HMV (noninvasive mechanical ventilation [NIV] or invasive mechanical ventilation [IMV]) were analyzed. The reasons for first nonscheduled hospital visits were categorized as respiratory problems and other reasons. RESULTS: Of 97 patients, 41 were female (42.3%), and 70 (72%) were on IMV. The median age was 23 months (IQR, 10-91). Twenty-nine patients (30%), were admitted to hospital before scheduled visit with a mean duration of 18.1 ± 11.6 days; of them, 14 (48.2%) admitted because of respiratory problems. IMV increases the risk of first nonscheduled visit compared to NIV (OR, 16.3; 95% CI, 2.1-127.4; p = .008). If a caregiver spends less than 14 days in hospital for education, risk of nonscheduled visits increases (OR, 4.0; 95% CI, 1.5-11.2; p = .007). CONCLUSION: A minimum 14 days seems to be necessary for education of the caregivers of the patients with HMV to reduce the number of nonscheduled visits, which is a burden for both patients and healthcare system.

Development of a core outcome set for congenital pulmonary airway malformations: study protocol of an international Delphi survey.

INTRODUCTION: A worldwide lack of consensus exists on the optimal management of asymptomatic congenital pulmonary airway malformation (CPAM) even though the incidence is increasing. Either a surgical resection is performed or a wait-and-see policy is employed, depending on the treating physician. Management is largely based on expert opinion and scientific evidence is scarce. Wide variations in outcome measures are seen between studies making comparison difficult thus highlighting the lack of universal consensus in outcome measures as well. We aim to define a core outcome set which will include the most important core outcome parameters for paediatric patients with an asymptomatic CPAM. METHODS AND ANALYSIS: This study will include a critical appraisal of the current literature followed by a three-stage Delphi process with two stakeholder groups. One surgical group including paediatric as well as thoracic surgeons, and a non-surgeon group including paediatric pulmonologists, intensive care and neonatal specialists. All participants will score outcome parameters according to their level of importance and the most important parameters will be determined by consensus. ETHICS AND DISSEMINATION: Electronic informed consent will be obtained from all participants. Ethical approval is not required. After the core outcome set has been defined, we intend to design an international randomised controlled trial: the COllaborative Neonatal NEtwork for the first CPAM Trial, which will be aimed at determining the optimal management of patients with asymptomatic CPAM.

A 2-Year-Old Boy With Hypoxemia, Pulmonary Hypertension, and Digital Clubbing.

CASE PRESENTATION: A 2-year-old boy was referred to the Ankara University School of Medicine Children's Hospital with a history of recurrent respiratory distress and cyanosis since birth. His medical history was significant for premature birth at 31 weeks via cesarean section, as an infant of a diabetic mother. There was no parental consanguinity. He was hospitalized in the neonatal ICU after birth because of respiratory distress. After receiving invasive mechanical ventilation for 4 days, noninvasive mechanical ventilation and oxygen therapy were given gradually. As a result of further investigations, he received a diagnosis of situs inversus totalis and pulmonary hypertension. He was discharged on postnatal day 53 without supplemental oxygen therapy or treatment for pulmonary hypertension. Up to the age of 2 years, the patient had a history of multiple admissions to hospital for respiratory distress, lower respiratory tract infection, and cyanosis as an inpatient and outpatient. After starting to walk, shortness of breath and coughing occurred with effort.

A Rare Cause of Sleep-Disordered Breathing: ROHHAD Syndrome.

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) syndrome; is a rare but crucial disorder. Sleep-disordered breathing can occur at the beginning or after of obesity. A disease-specific test for diagnosis is not yet available. Neural crest tumors (ganglioneuroma, ganglioneuroblastoma) have been reported in 40% of patients. In our study, three patients diagnosed as having ROHHAD syndrome are presented from our hospital. In the evaluation of the hypothalamic functions of the patients, one of them had growth hormone deficiency and hyperprolactinemia; recurrent hypernatremia reflecting irregular water balance was detected in another. One of the patients had abnormal pupil reflex and heart rate irregularity while another had excessive sweating as autonomic dysfunction. One of the patients was diagnosed with paravertebral ganglioma accompanying ROHHAD syndrome. Non-invasive ventilation treatment was started in all patients because there was a sleep-disorder breathing clinic diagnosis. ROHHAD syndrome deserves a multidisciplinary team approach as it can affect more than one organ system. In these patients, should be sleep-disorder breathing determined early and appropriate treatment should be initiated immediately to reduce morbidity and mortality.

Sublingual Atropine Sulfate Use for Sialorrhea in Pediatric Patients.

Sialorrhea is a frequent problem and may lead to aspiration in patients with swallowing dysfunction. We aimed to assess the effectiveness and safety of sublingual atropine sulfate treatment in pediatric patients with sialorrhea. The medical records of patients who had received sublingual atropine sulfate between January 2015 and January 2016 were reviewed retrospectively. The demographic properties, diagnosis, invasive or noninvasive mechanical ventilation need, and the presence of tracheotomy were assessed. Response rates to sublingual atropine were measured using the Teacher Drooling Scale (TDS). Pre and post-treatment drooling scores were compared. Atropine sulfate ampoule was administered at 20 µg/kg/dose. Minimum dose was 0.25 mg, while maximum dose was 0.03 mg/kg.Thirty-five pediatric patients with sialorrhea who had received sublingual atropine sulfate were identified; however, TDS scores had been recorded in only 20 of them. The median age of the patients was 25 months (3-78 months; 7 girls, 13 boys). Sixteen (80%) patients were on invasive mechanical ventilation and seven (30%) had tracheotomy. Nineteen patients had a neurodevelopmental disorder and only one patient had oral and esophageal lesions due to corrosive material intake. The median TDS score prior to sublingual atropine sulfate treatment was 5, and it decreased to 3 on the second day of treatment, a change that was statistically significant ( p < 0.001). No side effects were observed. Sublingual atropine sulfate is safe and effective in the short-term treatment of sialorrhea; however, randomized placebo controlled and long-term follow-up studies are necessary.