A5043513750- Obstructive Sleep Apnea Research
- Neurogenetic and Muscular Disorders Research
- Congenital Anomalies and Fetal Surgery
- RNA modifications and cancer
- Sleep and Wakefulness Research
- Autism Spectrum Disorder Research
- Neuroscience of respiration and sleep
- Genetics and Neurodevelopmental Disorders
- Allergic Rhinitis and Sensitization
- Attention Deficit Hyperactivity Disorder
- Sleep and related disorders
- Asthma and respiratory diseases
- Cardiac Structural Anomalies and Repair
- Tracheal and airway disorders
- Obesity, Physical Activity, Diet
- Cardiovascular Disease and Adiposity
- Cognitive and developmental aspects of mathematical skills
- Fluid Dynamics and Turbulent Flows
- Child and Animal Learning Development
- Eating Disorders and Behaviors
- Iron Metabolism and Disorders
- Nasal Surgery and Airway Studies
- Inflammatory Biomarkers in Disease Prognosis
- Mitochondrial Function and Pathology
- Psychological Testing and Assessment
Santobono Children's Hospital
2021-2025
University of Pavia
2022
University of Campania "Luigi Vanvitelli"
2017-2022
Epilepsy Foundation
2020
Spinal muscular atrophy (SMA) is a genetically inherited recessive neuromuscular disease that causes and weakness. Onasemnogene abeparvovec (formerly AVXS-101, Zolgensma®, Novartis) targeted therapy approved to treat patients with SMA in >40 countries worldwide. This study describes the clinical efficacy tolerability of gene replacement onasemnogene over 3-month period 9 type 1 aged 1.7-48 months, 7 on stable nusinersen (i.e., had received all four loading doses before inclusion this study)....
Efficacy and safety of onasemnogene abeparvovec (OA) for Spinal Muscular Atrophy infants under 7 months <8.5 kg has been reported in clinical trials. This study examines efficacy predictors a wide age (22 days-72 months) weight (3.2-17 kg) range, also including patients previously treated with other drugs.46 were 12 between January 2020 March 2022. Safety profile was available another 21 at least 6 month follow-up after OA infusion. 19/67 treatment naïve when OA. Motor function measured the...
Sleep and migraine share a common pathophysiological substrate, although the underlying mechanisms are unknown. The serotonergic orexinergic systems both involved in regulation of sleep/wake cycle, numerous studies show that etiopathogenesis. These two anatomically functionally interconnected. Our hypothesis is dysfunction projections on median raphe (MR) nuclei, interfering with regulation, may cause Non-Rapid Eye Movement parasomnias, such as somnambulism.Acting neurons would lead to...
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by mutations in the survival motor neuron 1 (
Autism spectrum disorders (ASD) is a complex and multifaceted neurobehavioral syndrome with no specific cause still identified, despite the worldwide increasing (prevalence for 1000 children from 6,7to 14.6, between 2000 to 2012). Many biological instrumental markers have been suggested as potential predictive factors precocious diagnosis during infancy and/or pediatric age. studies reported structural functional abnormalities in autonomic system subjects ASD. Sleep problems ASD are...
Obstructive sleep apnea syndrome (OSAS) affects up to 4% of a pediatric population, with many comorbidities in the medium-long term. Functional alterations prefrontal cortex (PFC) may explain why OSAS impacts aspects such as executive functions, memory, motor control, attention, visual-spatial skills, learning, and mood regulation. Emotional intelligence (EI) is complex neuropsychological function that could be impaired clinical conditions.The aim study evaluate difference emotional skills...
Fragile X syndrome (FXS) is a genetic with intellectual disability due to the loss of expression FMR1 gene located on chromosome (Xq27.3). This mutation can suppress fragile mental retardation protein (FMRP) an impact synaptic functioning and neuronal plasticity. Among associated sign symptoms this condition, sleep disturbances have been already described, but few polysomnographic reports in pediatric age reported. multicenter case-control study aimed at assessing macrostructure analyzing...
Children with migraine headaches appear to have a range of sleep disturbances. The aim the present study was assess NREM instability in population school-aged individuals affected by without aura (MoA). 33 children MoA (20 males, 13 females, mean age 10.45±2.06 years) underwent overnight PSG recordings and Cyclic Alternating Pattern (CAP) analyses accordingly international criteria. group showed reduction duration parameters (TIB, SPT, TST; p≤0.001 for all) arousal index during REM an...
SummaryBackgroundThe advent of disease-modifying treatments (DMT) has changed natural history in 5q Spinal muscular atrophy (SMA). The aim this study was to report survival and functional aspects all the Italian type I children born since 2016.MethodsThe included symptomatic with SMA January 1st, 2016, when DMTs became available Italy. All referral centers provided data on motor, respiratory, nutritional status. To compare rate pre post approval, we also similar from patients between 2010,...
Owing to the increasing rate of pediatric obesity, its complications such as non-alcoholic fatty liver disease (NAFLD) and obstructive sleep apnea (OSA) have become prevalent already in childhood. We aimed assess relationship between these two diseases a cohort children with obesity.We enrolled 153 obesity (mean age 10.5 ± 2.66, mean BMI 30.9 5.1) showing OSA. Subjects underwent laboratory evaluation, cardio-respiratory polysomnography (PSG), ultrasound.All subjects had clinical diagnosis...
Duchenne muscular dystrophy (DMD) is an X-linked myopathy caused by mutations, in most cases deletions and duplications, the dystrophin gene. Point mutations account for 13% stop codon are even rarer. Ataluren was approved treatment of DMD nonsense 2014, several clinical trials documented its efficacy safety. However, few real-life experience data available, especially pediatric age. We report case a 2-year- ambulant child affected stop-codon mutation c.10801C > T, p.Gln3601X exon 76, who...
BACKGROUND The nose represents the port of entry, first part upper airway and accounts for 50% its total resistance. Many authors identified rhinitis as relevant factor affecting quality life, sleep habits sufferers their caregiver's, particularly between 4-17 years old children. Both allergic non-allergic may represent an important risk obstructive apnea syndrome in We evaluated role nasal irrigations with saline solutions children sign symptoms rhinitis. METHODS An observational...
Object Migraine headache prevalence ranges from 1.2 to 3.2% at 7 years of age, increasing with age up 4-19% in adolescents.1 The aim the present study is investigating personality style associated children and adolescent affected by without aura (MwA), through administration projective Rorschach test statistical comparison a group age- sex matched healthy controls. Methods 137 patients (74 males 63 females), aged 7.3–17.4 (mean 11.4, SD 3.02 years), MwA according IHs-3 criteria. has been...
Developmental Coordination Disorder (DCD) is considered to be abnormal motor skills learning, identified by clumsiness, slowness, and/or inaccuracy impairing the daily-life activities in all ages of life, absence sensory, cognitive, or neurological deficits impairment. The present research focuses on studying DCD sleep structure and Cyclic Alternating Pattern (CAP) parameters with a full overnight polysomnography study putative correlations between architecture CAP coordination skills. was...
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that causes muscle and weakness. While no specific therapies existed until a few years ago, several effective disease-modifying treatments have become available in recent years. However, there are currently recommendations on the management of therapy sequencing involving these new treatments. A 4-months-old girl with SMA type 1 two copies SMN2 was started treatment nusinersen resulting significant improvement her...
Sickle-cell disease (SCD) patients are considered to be at high risk from open-heart surgery. This study assessed the role of a simple sickling-prevention protocol.Perioperative non-specific and SCD-specific morbidity 30-day mortality investigated in retrospective cohort on undergoing isolated mitral valve Patients with without SCD were compared. In cohort, bundle interventions was applied limit sickling: 'on-demand' transfusions keep haemoglobin levels around 7-8 g/dl, cardiopulmonary...
The epidemic spread of childhood obesity in Western society has interested many researchers, who agree defining it as a multifactorial disease which not only eating habits and sedentary lifestyle play role, but also genetic predisposition. aim this study was to analyze the personality profile group mothers children with compare that without obesity. A total 258 participated (126 132 obesity). Weight height were measured body mass index calculated. Minnesota Multiphasic Personality Inventory...
BACKGROUND: The nose represents the port of entry, first part upper airway and accounts for 50% its total resistance. Many authors identified rhinitis as relevant factor affecting quality life, sleep habits sufferers their caregiver's, particularly between 4-17 years old children. Both allergic non-allergic may represent an important risk obstructive apnea syndrome in We evaluated role nasal irrigations with saline solutions children sign symptoms rhinitis.METHODS: An observational...
Phenylketonuria (PKU) is a rare congenital disorder caused by decreased metabolism of phenylalanine determining cerebral impairments. If untreated, PKU might lead to intellectual disability, seizures and behavioral disorders. The aim this study provide characterization the psychopathological profile pediatric population diagnosed with at newborn screening.an accurate neuropsychological evaluation 23 patients (aged 8-18 years) hyperphenylalaninemia (defined as experimental group, EG) in...
Abstract Obstructive sleep apnea syndrome (OSAS) in childhood is a complex disease primarily due both to adenotonsillar hypertrophy and pediatric obesity. Notably, inflammation has been recognized as one of the most important shared pathogenic factor between obesity OSAS resulting an increased cardiometabolic risk for these patients. To date, evidence still limited non-obese population with OSAS. We aimed evaluate profile subjects affected by A total 128 school-aged children (mean age 9.70 ±...