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.

Management of respiratory issues in patients with Rett syndrome: Italian experts' consensus using a Delphi approach.

Background: Despite the publication of the 2020 guidelines on how to manage Rett Syndrome (RS), some fundamental topics are still open, in particular respiratory problems.

Objective: Identification and reinforcement of current recommendations concerning the management of respiratory issues in RS patients.

Materials And Methods: Using a Delphi approach, the leading group reviewed the literature and formulated 14 statements.

Care Issues in Patients with Rett Syndrome: A Parental Perspective.

Background: The purpose of this study is to better understand the way caregivers of patients with Rett syndrome perceive the quality of the health care services they receive and identify its main shortcomings.

Methods: A survey was distributed to all caregivers who are part of AIRETT (the Italian Association of Relatives of Patients with RS). The survey gathered information on the management of relatives of patients with Rett syndrome.

Sleep architecture and Nusinersen therapy in children with Spinal Muscular Atrophy type 1.

Background: Spinal muscular atrophy (SMA) is a severe neuromuscular disorder, the phenotype of the disease is caused by the mutation of the SMN1 (survival motor neuron 1) gene which encodes for the SMN protein. Innovative treatments for SMA have become available and the first molecule approved is Nusinersen, an antisense oligonucleotide that increases the production of SMN protein. Nusinersen has been shown to be associated with a significant motor improvement and an increase of the event-free survival.

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.

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.

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.

Switching therapies: safety profile of Onasemnogene abeparvovec-xioi in a SMA1 patient previously treated with Risdiplam.

Three disease-modifying drugs (Nusinersen, Risdiplam and Onasemnogene abeparvovec) have been approved for SMA type I. Onasemnogene abeparvovec (GRT) can be administered in naïve patients or patients who are already being treated with Nusinersen or Risdiplam. Safety data on GRT in naïve patients or previously treated Nusinersen have been extensively described whereas any case of switch therapy from Risdiplam to GRT has been reported yet.

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.

Fetal Growth and Neonatal Outcomes in Pregestational Diabetes Mellitus in a Population with a High Prevalence of Diabetes.

The aim of this retrospective study, conducted in an Italian tertiary care hospital, was to evaluate maternal-fetal and neonatal clinical outcomes in a group of patients with pregestational diabetes mellitus (PGDM), such as diabetes mellitus type 1 (DM1), diabetes mellitus type 2 (DM2), and maturity onset diabetes of the young (MODY). Overall, 174 pregnant women, nulliparous and multiparous, with a single pregnancy were enrolled. Data on pregnancy, childbirth, and newborns were collected from medical records.

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.

Age-related sensory neuropathy in patients with spinal muscular atrophy type 1.

Introduction/aims: Spinal muscular atrophy type 1 (SMA 1) is a devastating motor neuron disorder that leads to progressive muscle weakness, respiratory failure and premature death. Although sensory electrophysiological changes have been anecdotally found in pediatric SMA 1 patients, the age of onset of sensory neuropathy remains unknown.

Methods: Sensory nerve conduction studies of the median and sural nerves were performed in 28 consecutive SMA 1 patients of different ages.

Decrease in Neutrophil-to-Lymphocyte Ratio during Neoadjuvant Chemotherapy as a Predictive and Prognostic Marker in Advanced Ovarian Cancer.

Since chronic inflammation is associated with ovarian cancer growth and progression, some clinical studies have assessed the association between the pre-treatment neutrophil-to-lymphocyte ratio (NLR) and the prognosis of ovarian cancer. The purpose of this study was to assess the dynamic behavior of the NLR during the course of neoadjuvant chemotherapy (NACT) in patients with high grade serous (HGS) advanced epithelial ovarian cancer and assess its correlation with clinical response, progression free survival (PFS) and changes in other inflammatory indexes. We performed a prospective observational study on 161 patients who underwent NACT at the Department of Gynecologic Oncology, ARNAS G.

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%).

Effects of the COVID-19 pandemic and lockdown on symptom control in preschool children with recurrent wheezing.

Introduction: Preschool wheezers are at high risk of recurrent attacks triggered by respiratory viruses, sometimes exacerbated by exposure to allergens and pollution. Because of the COVID-19 infection, the lockdown was introduced, but the effects on preschool wheezers are unknown. We hypothesized that there would be an improvement in outcomes during the lockdown, and these would be lost when the lockdown was eased.

Lung ultrasound: A useful additional tool in clinician's hands to identify pulmonary atelectasis in children with neuromuscular disease.

Introduction And Objectives: Patients with neuromuscular disease (NMD) are often exposed to ionizing radiations which could be reduced if a noninvasive and reliable diagnostic method is identified. The major aim of this study was to compare the use of chest X-ray (CXR) with lung ultrasound (LUS) in pediatric patients with NMD, to identify pulmonary atelectasis (PA).

Materials And Methods: A prospective study was conducted on children affected by NMD.

Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6.

Arthrogryposis multiplex congenita (AMC) is defined as congenital, non-progressive contractures in more than two joints and in multiple body areas, resulting from reduced fetal mobility. So far, more than 400 causative genes for AMC have been identified. Some isolated AMC phenotypes arise as a result of mutations in genes encoding components required for motor neuron structure, function, and myelination, as in the case of ADCY6 encoding the enzyme adenylyl cyclase type 6.

Transition to adult care in young people with neuromuscular disease on non-invasive ventilation.

Background: Long-term mechanical ventilation (LTV) with non-invasive ventilation (NIV) prolongs survival in patients with Neuromuscular Diseases (NMDs). Transition from paediatric to adult healthcare system is an undervalued and challenging issue for children with chronic conditions on mechanical ventilation.

Methods: this retrospective study aims to compare issues of young adults in age to transition to adult care (≥ 15 years old) affected by NMDs on NIV in two different Paediatric Respiratory Units in two different countries: Bambino Gesù Children's Hospital, Research Institute, (Rome, Italy) (BGCH) and the Paediatric Respiratory Unit of the Royal Brompton Hospital (London, UK) (RBHT).

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.

Effects of long-term non-invasive ventilation on sleep structure in children with Spinal Muscular Atrophy type 2.

Objective: Changes of sleep architecture have been reported in children with Spinal Muscular Atrophy type 2 (SMA2), mainly represented by a decrease of arousability. No studies have evaluated the effect of long-term ventilation on sleep parameters in these children. The aim of this study was to evaluate the effects of long-term non-invasive positive pressure ventilation (LTNPPV) on sleep architecture and to assess the residual differences from normal controls.

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.