Long Term Ventilation in Pediatric Central Apnea: Etiologies and Therapeutic Approach over a Decade.

Objective: This retrospective study aimed to analyze the clinical characteristics, ventilatory strategies, and effectiveness of ventilation in pediatric patients with central apneas treated at the Sleep Medicine and Long-Term Ventilation Unit of the Bambino Gesù Children's Hospital in Rome from 2012 to 2022.

Methods: Among all ventilated patients at our Center from January 2012 to December 2022, we retrospectively included children with a cAHI ≥ 1 events/h on baseline poly(somno)graphic study. Additional parameters assessed included the underlying disease, type of ventilation (non-invasive vs.

Severe asthma guidelines in children and adolescents: A practical document for physicians.

Asthma is a common disease in childhood with a minority of affected children suffering from severe asthma. Patients with severe asthma require high dose inhaled glucocorticoids plus a second controller and/or systemic corticosteroids to be well-controlled or remain uncontrolled despite such treatment. Although only a small subset of children and adolescents falls in this category, the management of affected patients represents a major concern for pediatricians.

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.

Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome.

Background: Breathing disturbances are often a primary clinical concern especially during wakefulness of the classic form of Rett syndrome, but data for atypical forms are lacking.

Case Presentation: We report the case of a 20-month-old female affected by Rett syndrome with congenital variant-like onset, characterized by severe hypotonia and neurodevelopment impairment. She presented hypoventilation, persistent periodic breathing, and sustained desaturation during sleep, without obstructive or mixed events.

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.

Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies.

Background: X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from pathogenic variants in the MTM1 gene. Affected male subjects typically present with severe hypotonia and respiratory distress at birth and they often require intensive supportive care. Long-term survivors are often non-ambulant, ventilator and feeding tube-dependent and they generally show additional organ manifestations, indicating that myotubularin does play a vital role in tissues other than muscle.

All You Need Is Evidence: What We Know About Pneumonia in Children With Neuromuscular Diseases.

Neuromuscular diseases may involve all major respiratory muscles groups including inspiratory, expiratory, and bulbar muscles. Respiratory complications are the major cause of morbidity and mortality. Pneumonia represents a frequent cause of morbidity in children with neuromuscular disease.

How the Management of Children With Congenital Central Hypoventilation Syndrome Has Changed Over Time: Two Decades of Experience From an Italian Center.

Congenital central hypoventilation syndrome (CCHS) is a rare disorder whose clinical phenotype is closely related to genotype. A retrospective analysis has been conducted on 22 patients with CCHS, who were referred to the Pediatric Pulmonology and Respiratory Intermediate Care Unit of Bambino Gesù Children's Hospital (Italy) for a multidisciplinary follow-up program between 2000 and 2020. Apnea and cyanosis were the most frequent symptoms at onset (91%).

Long Term Non-invasive Ventilation in Children With Central Hypoventilation.

Central hypoventilation (CH) is a quite rare disorder caused by some congenital or acquired conditions. It is featured by increased arterial concentration of serum carbon dioxide related to an impairment of respiratory drive. Patients affected by CH need to be treated by mechanical ventilation in order to achieve appropriate ventilation and oxygenation both in sleep and wakefulness.

Built-in software in children on long-term ventilation in real life practice.

Information gathered with built-in software (BIS) on new ventilators allow clinicians to access long-term noninvasive ventilation (LTNIV) data. Nevertheless, few evidence are available in literature that highlight potential strengths and disadvantages of using BIS in pediatrics. We aim to evaluate the use of BIS in a cohort of 90 children on LTNIV in our unit, focusing mainly on adherence, air leaks, and residual sleep events.

Application of latent class analysis in assessing the awareness, attitude, practice and satisfaction of paediatricians on sleep disorder management in children in Italy.

Aim: To identify subgroups regarding paediatricians' awareness, attitude, practice and satisfaction about management of Sleep-Disordered Breathing (SDB) in Italy using Latent Class Analysis (LCA).

Methods: A cross-sectional study was conducted on a large sample of Italian paediatricians. Using a self-administered questionnaire, the study collected information on 420 Paediatric Hospital Paediatricians (PHPs) and 594 Family Care Paediatricians (FCPs).

'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene.

Amish Nemaline Myopathy is a severe form of nemaline myopathy associated to mutation in TNNT1 gene, firstly reported among the Old Order Amish. Here we report two Italian siblings who manifested, by the age of 7 months, progressive and severe muscle weakness and wasting, respiratory insufficiency, pectus carinatum deformity and failure to thrive. Muscle biopsy was consistent with nemaline myopathy and novel homozygous missense mutation in TNNT1 was found.

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.

A survey around the Italian pediatric units on current clinical practice for Sleep Disordered Breathing (SDB).

Background: During recent years, interest on Sleep Disordered Breathing (SDB) in pediatric age has increased, due to the impact on quality of life, psycho-physical attitude and other serious morbidities if undiagnosed and untreated.

Methods: Italian Pediatric Respiratory Diseases Society (SIMRI) SDB-Working Group carried out an exploratory survey in Italy, from January to December 2016, to assess the diagnostic and therapeutic pathways, perception and relevance of SDB in Italian Hospitals.

Results: A questionnaire was sent to 180 Pediatric Units (PUs) distributed throughout the Italy; 102 Pediatric Units (PUs; 56.

Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease.

Background: Congenital central hypoventilation syndrome (CCHS) is characterized by alveolar hypoventilation increasing during sleep and affected patients are unable to perceive and respond to hypercarbia with increased ventilation and arousal during sleep. PHOX2B gene mutations are considered as responsible for CCHS. Most of patients with CCHS are heterozygous for polyalanine expansion mutations (PARMs) in exon 3, but 10% of patients with classic CCHS are heterozygous for non-polyalanine expansion mutations (NPARMs) of the PHOX2B gene.

Authors' reply - anaphylactic shock with methylprednisolone, Kounis syndrome and Hypersitivity to corticosteroids: a clinical paradox.

In our letter, we comment the paper of Kounis et al., that highlights a poor-known clinical entity determined by systemic use of corticosteroids, the so-called "Kounis syndrome type I". We appreciated and shared the intent of Authors to treat the important issue of high risk of adverse drug reaction in patients with atopic diathesis and we confirm the need to administer corticosteroids with caution in patients suffering from allergic disease.

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.