The Efficacy of Noninvasive Ventilation in Patients Affected by Rett Syndrome With Hypoventilation.

BACKGROUND: Rett syndrome is a progressive neurological disorder associated to several comorbidities that contribute significantly to impair lung function. Respiratory morbidity represents a major cause of death in this population. Little is known about the benefit of noninvasive ventilation. METHODS: We retrospectively enrolled patients with Rett syndrome who underwent a pneumological evaluation combined with a cardiorespiratory polygraphy and/or a pulse oximetry and capnography from 2012 to 2022. RESULTS: Medical records of 11 patients with Rett syndrome, mean age 13 ± 6 years, were evaluated. Most patients presented with both epilepsy and scoliosis. Five patients showed a pathologic sleep study and/or impaired night gas exchange: mean obstructive apnea-hypopnea index was 4 ± 3 events/hour; mean and minimal SpO2 were, respectively, 93% ± 2% and 83% ± 6%, while mean and maximal transcutaneous carbon dioxide monitoring (PtcCO2) were, respectively, 51 ± 5 mm Hg and 55 ± 8 mm Hg; and mean oxygen desaturation index was 13 ± 11 events/hour. These patients started noninvasive ventilation with clinical benefit and improved gas exchange mostly in terms of PtcCO2 (mean PtcCO2 51 ± 5 mm Hg before and 46 ± 6 mm Hg after noninvasive ventilation). CONCLUSIONS: Noninvasive ventilation is a suitable option for patients with Rett syndrome.

Neurocognitive profile of a cohort of SMA type 1 pediatric patients and emotional aspects, resilience and coping strategies of their caregivers.

Spinal muscular atrophy (SMA) type 1 represents the most severe condition of the spectrum of SMA 5q. In the absence of therapeutic interventions, patients do not achieve any motor milestone and their life expectancy does not exceed two years of age. To date, three disease-modifying drugs have been approved for SMA type I. These treatments have radically changed the natural history of the disease, improving motor, respiratory and bulbar functions. In recent years huge amount of data have been collected worldwide related to motor, respiratory and swallowing function outcome in treated patients, whereas the neurocognitive profile of treated patients has been poorly explored. Here we report the neurocognitive development profile of a cohort of SMA type I children treated with a disease modifying therapy. We also describe the burden and resilience as well as the coping strategies of their caregivers. Our finding show a global developmental delay in most patients and defects in gross motor functions contribute most to lower the general development quotient of Griffiths III, whereas the scores obtained on evaluating learning and language abilities scales suggest a positive trend in the developmental trajectory of general neurocognitive abilities. Some parents reported anxiety and stress but overall they were resilient (and had good coping strategies towards the burden of care for their child. These results reinforce the importance of routinely assessing the neurocognitive aspects in SMA type I patients and to offer an early intervention to favor the psychosocial development of these children.

Children with medical complexity and pediatric palliative care: Data by a respiratory intermediate care unit.

Pediatric palliative care (PPC) is an active and total approach to the care of children with life-limiting conditions and their families. PPC programs provide ongoing treatment for children with medical complexity (CMC), many of whom will reach adulthood. Aim of the study was to describe a population of CMC attendingin six preselected months the Respiratory Intermediate Care Unit of a tertiary referral hospital for southern and central Italy. We enrolled all CMC patients admitted to our unit in six preselected months and registered pathologies and different categories of childhood diseases, devices and needs, hospitalization and home care plan. Among the 275 children admitted to our unit, 130 CMC were included. Median age was 9.9 (0.1-40.0) years. The main pathologies recorded were neuromuscular, neurological, respiratory, metabolic and malformative diseases, genetic syndromes and outcomes of prematurity. Comorbidity due to respiratory, digestive, neurological, cardiac and urological involvement was present in a high percentage of cases. Among our patients, only 46 were not carriers of any medical device. The average length of hospitalization was 7.0 (1.0-270.0) days with 2 (1.0-7.0) admissions per year per patient. Home care activation was not required for 47 out of 130 patients. Children eligible for PPC are increasing and their survival results in a rise of comorbidities and special needs demanding multilevel interventions. Respiratory symptoms are the most recurrent ones observed, thus requiring an expert in PPC with expertise in the respiratory field. Sharing data and knowledge of CMC needs may help improve care coordination.

E-cigarette or Vaping product use Associated Lung Injury (EVALI) in a 15 year old female patient - case report.

BACKGROUND: E-cigarettes are devices which allow to aerosolize liquids containing nicotine or other substances. Ever since they were released on the market in 2006, the number of users have been constantly increasing, especially among adolescents, ranging from 7,6% to 9,3% in the age group 18-24 years old from 2014 to 2019. Hand in hand with the spread of E-cigarettes many have been the efforts to understand their impact on health. EVALI (E-cigarette or Vaping product use Associated Lung Injury) is an emerging condition with a heterogeneous presentation with several reported cases worldwide. We mean to report a case of EVALI in a 15-year-old female Caucasian patient, who's currently attending her clinic follow-up at Bambino Gesù Pediatric Hospital in Rome. CASE PRESENTATION: The patient was admitted to the Emergency Room due to acute respiratory failure in November 2020. At admittance, she was severely dyspneic (HR 120 bpm, SatO2 75%). As she was hospitalized amid the COVID-19 pandemics, she underwent a nasopharyngeal swab for SARS-CoV2, which turned out negative, and a chest CT scan. Chest CT scan showed a central ground grass pattern with peripheral sparing. At the anamnestic recall, it was disclosed she was an e-cigarette smoker and occasional marijuana user. The microbiological work-up proved only positive for Rhinovirus. Her clinical and radiological case was discussed with our radiologist who suspected EVALI. She was assisted through HFNC, antibiotical therapy and corticosteroids with a dramatic recovery within the first 48 h. CONCLUSIONS: EVALI started being recognized a specifically nosological entity in summer 2019, with increasing cases being reported. No diagnostic criteria have been agreed upon yet, but its usual presentation includes respiratory, gastrointestinal and systemic symptoms of different degree and the diagnosis can be hypothesised in case the patient has an evocative clinical and radiological presentation and has been an E-cigarette smoker in previous 90 days. Due to the novelty of the condition and its heterogeneous presentation it is of interest to report the cases in which EVALI is identified to raise awareness about this emerging new-age disease.

Decannulation in children affected by congenital central hypoventilation syndrome: A proposal of an algorithm from two European centers.

RATIONALE: Long-life ventilatory assistance is necessary for survival in pediatric patients with congenital central hypoventilation syndrome (CCHS). Invasive mechanical ventilation (IMV) through tracheostomy is the most used method, especially in the first years of life when the central nervous system is maturing. Nevertheless, IMV via tracheostomy is not ideal because tracheostomy in children is associated with impaired speech and language development, also frequent infections of the lower airway tract occur. OBJECTIVE: Only few reports describe the transition from IMV to the noninvasive method, ending with decannulation in CCHS affected patients. We aim to provide our experience regarding decannulation program in CCHS affected children and to describe a proposal of an algorithm concerning transition from invasive to noninvasive ventilation (NIV) in CCHS patients. METHODS: The study has been conducted retrospectively. Four children from two European centers underwent tracheostomy removal and decannulation, upon request of patients and their families. RESULTS: All children were trained to carry out tracheostomy capping before decannulation and underwent endoscopic assessment of upper and lower airway. Subsequently they started training to NIV at mean age of 106.25 months (±40.7 SD). Decannulation occurred 12 months after and no patients needed the reintroduction of tracheal cannula in either short or long term follow up. CONCLUSIONS: our study shows that effective liberation from IMV, the transition to NIV and decannulation are possible in CCHS affected children and offers a proposal of an algorithm which can be applied in selected centers.

Respiratory syncytial virus prophylaxis and the "special population".

Bronchiolitis is the most frequent airway infection in the first 2 years of life, and the respiratory syncytial virus (RSV) is the most frequently responsible virus. In selected high-risk groups, RSV may cause severe respiratory disease leading to hospitalization, need for mechanical ventilation, and even death. These high-risk groups include children with congenital heart disease, infants with neuromuscular impairment, cystic fibrosis, Down Syndrome, immunodeficiency syndromes and others specific conditions. In these high-risk populations defined in literature as "special population", a 3- to 10-fold increase in the rate of RSV hospitalization has been observed, justifying RSV specific prophylaxis with palivizumab, a monoclonal antibody that binds a viral glycoprotein epitope and blocks the link between RSV and target cell. Evidence of safety and efficacy of RSV prophylaxis in these populations is lacking. Given the low incidence of these conditions, randomized clinical trials are not feasible. The purpose of this paper is to give an update from the literature of various conditions at higher risk to develop severe RSV infection, and to offer an overview of the efficacy of palivizumab in preventing RSV infection in these specific populations.