Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016.

Background: The advent of disease-modifying treatments (DMT) has changed natural history in 5q Spinal muscular atrophy (SMA). The aim of this study was to report survival and functional aspects in all the Italian type I children born since 2016.

Methods: The study included all symptomatic children with type I SMA born since January 1st, 2016, when DMTs became available in Italy.

Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey.

Purpose: The availability of care recommendations has improved survival and delayed the progression of clinical signs in Duchenne muscular dystrophy. The aim of the study was to perform a nationwide survey investigating the prevalence, age distribution, and functional status of Duchenne muscular dystrophyin Italy.

Methods: The survey was performed by collecting data from all 31 reference centers for Duchenne muscular dystrophy in Italy using a structured form.

The role and perception of the caregiver in a specialized pediatric palliative care center in medicine preparation and administration: a survey study.

Background: In pediatric palliative care, the main caregiver is primarily responsible for managing pharmaceutical therapies. Few data are available regarding the influence of this burden on quality of life in terms of time, concerns as well as a considerable risk of administration errors and adverse effects. This study aims to investigate how caregivers prepared and administrated medication, including errors and associated expectations, to identify improvement interventions.

A 15-year experience in pediatric palliative care: a retrospective hospital-based study.

Background: The current Italian scenario of pediatric palliative care (PPC) services is characterized by inadequate coverage of the territory. Therefore, it is important to improve the referral of patients to the most appropriate setting (community care, general PPC, or specialized PPC) and to improve the delivery of PPC care.

Methods: Aiming at obtaining information about the referrals to the Padua Pediatric Hospice that could help estimate the investments needed to improve the provision of care, a retrospective analysis has been carried out.

Polypharmacy in Children with Medical Complexity: A Cross-Sectional Study in a Pediatric Palliative Care Center.

Background: Children with medical complexity (CMC) often require multiple medications, leading to polypharmacy, which seems to be linked to adverse effects, administration errors, and increased caregiver burden. This study aimed to describe the prevalence of polypharmacy, medication burden, off-label drug use, and associated costs.

Methods: Conducted at the Pediatric Palliative Care Center of Padua, Italy, from August to October 2021, this cross-sectional observational study included patients up to 23 years old with at least one prescribed drug.

COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells.

Coenzyme Q (CoQ) is a redox lipid that fulfills critical functions in cellular bioenergetics and homeostasis. CoQ is synthesized by a multi-step pathway that involves several COQ proteins. Two steps of the eukaryotic pathway, the decarboxylation and hydroxylation of position C1, have remained uncharacterized.

Real-world usage of Chronic Kidney Disease - Mineral Bone Disorder (CKD-MBD) biomarkers in nephrology practices.

Background: Chronic kidney disease mineral bone disorder (CKD-MBD) is a condition characterized by alterations of calcium, phosphate, parathyroid hormone (PTH), and fibroblast growth factor 23 (FGF-23) metabolism that in turn promote bone disorders, vascular calcifications, and increase cardiovascular (CV) risk. Nephrologists' awareness of diagnostic, prognostic, and therapeutic tools to manage CKD-MBD plays a primary role in adequately preventing and managing this condition in clinical practice.

Methods: A national survey (composed of 15 closed questions) was launched to inquire about the use of bone biomarkers in the management of CKD-MBD patients by nephrologists and to gain knowledge about the implementation of guideline recommendations in clinical practice.

COQ4 is required for the oxidative decarboxylation of the C1 carbon of Coenzyme Q in eukaryotic cells.

Coenzyme Q (CoQ) is a redox lipid that fulfills critical functions in cellular bioenergetics and homeostasis. CoQ is synthesized by a multi-step pathway that involves several COQ proteins. Two steps of the eukaryotic pathway, the decarboxylation and hydroxylation of position C1, have remained uncharacterized.

Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies.

Background: Efficacy and safety of onasemnogene abeparvovec (OA) for Spinal Muscular Atrophy infants under 7 months and <8.5 kg has been reported in clinical trials. This study examines efficacy and safety predictors in a wide age (22 days-72 months) and weight (3.

A pilot study on sports activities in pediatric palliative care: just do it.

Background: There has been a growing interest in studying the value of physical exercise in children with disabilities or chronic health conditions because of evidence of improvement in quality of life, social acceptance, and physical functioning. However, only scant evidence exists for routine sports activities in children requiring pediatric palliative care (PPC), and in most cases, such evidence has been collected in oncological patients. The Pediatric Hospice of Padua is the referral center for PPC in the Veneto region (northern Italy).

Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function.

Background: We report the 4-year follow-up in type I patients treated with nusinersen and the changes in motor, respiratory and bulbar function in relation to subtype, age and SMN2 copy number.

Methods: The study included SMA 1 patients with at least one assessment after 12, 24 and 48 months from the first dose of nusinersen. The assessments used were Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and the Hammersmith Infant Neurological Examination (HINE-II).

How to define and enhance diagnostic and assistance pathways in neuromuscular diseases during the COVID-19 pandemic: the concept of network.

The main consequence of the COVID-19 pandemic has been to increase the distance between patients and their doctors and to limit the opportunities to compare experiences and clinical cases in the medical community. Based on this, we adopted a strategy to create networks with the ambition to break down these distances and to unify the process of care and management. Here we report the results and perspectives of our efforts and studies.

Effect of the COVID-19 Pandemic on Children With SMA Receiving Nusinersen: What Is Missed and What Is Gained?

Nusinersen is the first oligonucleotide-based drug that is approved for the treatment of spinal muscular atrophy. In January 2020, the WHO declared COVID-19 a pandemic and nusinersen-provider centers had to postpone planned infusions for some children along with other related interventions. Considering the important contribution that the intrathecal infusions and other support activities could have on the quality of life of spinal muscular atrophy patients and their families, this emergency could have a relevant impact on the course of the pathology.

Growth patterns in children with spinal muscular atrophy.

Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle atrophy and weakness. SMA type 1 (SMA1) is the most severe form: affected infants are unable to sit unaided; SMA type 2 (SMA2) children can sit, but are not able to walk independently. The Standards of Care has improved quality of life and the increasing availability of disease-modifying treatments is progressively changing the natural history; so, the clinical assessment of nutritional status has become even more crucial.

Predictive fat mass equations for spinal muscular atrophy type I children: Development and internal validation.

Background: Body composition assessment is paramount for spinal muscular atrophy type I (SMA I) patients, as weight and BMI have proven to be misleading for these patients. Despite its importance, no disease-specific field method is currently available, and the assessment of body composition of SMA I patients requires reference methods available only in specialized settings.

Objective: To develop predictive fat mass equations for SMA I children based on simple measurements, and compare existing equations to the new disease-specific equations.

Do we always need to treat patients with spinal muscular atrophy? A personal view and experience.

Background: We report the clinical outcomes observed in our patients with SMA type 1 or 2 receiving nusinersen, and we comment on the ethical implications of this treatment, in line with our results and those reported by Audic et al. in their analysis published in the Orphanet Journal of Rare Diseases.

Methods: We analyzed records of all children with a genetically diagnosed SMA and clinically confirmed diagnosis of SMA Type 1 or 2 to whom nusinersen was offered.

End-of-life care for children with complex congenital heart disease: Parents' and medical care givers' perceptions.

Aim: In complex congenital heart diseases (CHD), patients may remain affected by significant morbidity and mortality after surgery. We analysed the end-of-life (EoL) care in children with severe CHD who died in our institution and investigated perspectives of parents and health-care professionals (HCPs).

Methods: Medical records of all children (age < 18 years old) affected by a severe CHD who died in a tertiary cardiac care centre were reviewed.

Predictive energy equations for spinal muscular atrophy type I children.

Background: Knowledge on resting energy expenditure (REE) in spinal muscular atrophy type I (SMAI) is still limited. The lack of a population-specific REE equation has led to poor nutritional support and impairment of nutritional status.

Objective: To identify the best predictors of measured REE (mREE) among simple bedside parameters, to include these predictors in population-specific equations, and to compare such models with the common predictive equations.