A5005369946- Infant Development and Preterm Care
- Genetics and Neurodevelopmental Disorders
- Neurological disorders and treatments
- Cystic Fibrosis Research Advances
- Hemoglobinopathies and Related Disorders
- Congenital heart defects research
- Autism Spectrum Disorder Research
- Obsessive-Compulsive Spectrum Disorders
- Erythrocyte Function and Pathophysiology
- Erythropoietin and Anemia Treatment
- Genomics and Rare Diseases
- Viral Infections and Vectors
- Genetic Neurodegenerative Diseases
- Body Image and Dysmorphia Studies
- Bacteriophages and microbial interactions
- Vector-borne infectious diseases
- Cardiac Arrhythmias and Treatments
- Music Therapy and Health
- Iron Metabolism and Disorders
- Attention Deficit Hyperactivity Disorder
- RNA and protein synthesis mechanisms
- Genomics and Phylogenetic Studies
- Autoimmune Neurological Disorders and Treatments
- Mitochondrial Function and Pathology
- Infectious Encephalopathies and Encephalitis
Bambino Gesù Children's Hospital
2020-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2021-2022
Providence College
2018
The University of Melbourne
2000
The Strengths and Difficulties Questionnaire (SDQ) is a worldwide questionnaire used for the early identification of behavioural/emotional symptoms in children adolescents with neuropsychiatric disorders. Although its prognostic power has been studied, it not yet tested whether SDQ: (i) can identify pathognomonic across variety neurodevelopmental disorders, (ii) capture emotional behavioural problems associated main diagnosis, as well shared transdiagnostic dimensions, (iii) detect changes...
Routine chest physiotherapy (CPT) is an important component of prophylactic therapy in children with cystic fibrosis (CF) and requires a significant commitment time energy. It important, therefore, to establish CPT as positive experience. In this study, we evaluated the effect recorded music adjunct CPT. Specifically, compared use newly composed music, familiar family's usual routine on children's parents' enjoyment perception taken complete Enjoyment were via questionnaires designed...
Congenital erythrocytosis recognizes heterogeneous genetic basis and despite the use of NGS technologies, more than 50% cases are still classified as idiopathic. Herein, we describe case a 3-year-old boy with rare metabolic disorder due to SLC30A10 bi-allelic mutations characterized by hypermanganesemia, congenital neurodegeneration, also known hypermanganesemia dystonia 1 (HMNDYT1). The patient was treated iron supplementation chelation therapy CaNa2EDTA, resulting in significative...
GNAO1 gene mutations are associated with a neurodevelopmental disorder characterized by developmental delay, epilepsy, and movement disorder. Eye tracking eye analysis an intriguing method to assess cognitive language function and, the best of our knowledge, it has never been tested in standardized way GNAO1. children usually wheelchair-bound numerous motor constrains, including dystonic movements postures, heterotropia, hypotonia, making assessment arduous. These contribute burden...
Introduction Anorexia nervosa (AN) promotes psychological distress in caregivers who adopt different coping strategies. Dysfunctional caregiving styles exacerbate further the patient promoting maintenance of illness. We aimed to assess possible contribution personality traits adoption strategies deal with affected relative. Methods About 87 adolescents AN were recruited. Their parents completed Family Coping Questionnaire for Eating Disorders (FCQ-EDs) and Temperament Character...
We report here the complete genome sequence of Escherichia coli strain ML35. assembled PacBio reads into a single closed contig with 169× mean coverage and then polished this using Illumina MiSeq reads, yielding 4,918,774-bp 50.8% GC content.
The "Spazio Huntington-A Place for Children" program was launched in 2019. aim to contact at risk kids within Huntington disease (HD) families, provide counseling their parents and start a prospective follow-up of suspicious manifest pediatric HD (PHD). We met 25 two years, four whom with PHD highly expanded (HE) mutations beyond 80 CAG repeats. rated motor, neuropsychological behavioral changes all by the Unified Rating Scale (UHDRS)-total motor score (TMS) additional measures (1) cognitive...
There are several known forms of congenital erythrocytosis. Secondary usually associated with increased erythropoietin levels and recognize heterogeneous genetic basis. Despite the use NGS technologies, more than 50% erythrocytosis cases still classified as idiopathic. Identifying underling molecular cause appears to be crucial when a therapeutic option is available, especially if combined progressive dysfunction other organs. Herein, we describe case patient rare form due bi-allelic...
Routine chest physiotherapy (CPT) is an important component of prophylactic therapy in children with cystic fibrosis (CF) and requires a significant commitment time energy. It important, therefore, to establish CPT as positive experience. In this study, we evaluated the effect recorded music adjunct CPT. Specifically, compared use newly composed music, familiar family's usual routine on children's parents' enjoyment perception taken complete Enjoyment were via questionnaires designed...
<h3>Background</h3> The pediatric HD (PHD) variant differs from adult for clinical, genetic, neuropathological and imaging aspects. We have been conducting a family-based study since July 2019. <h3>Aims</h3> provide clinical description with neuropsychological developmental profiles of 4 PHD patients. <h3>Methods</h3> In 2019, the 'Spazio Huntington' program was launched by Italian League Research on Huntington (LIRH) Foundation, to increase family awareness children at risk HD, potentially...