Lavinia Fanelli
A5049912009- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- Children's Physical and Motor Development
- Congenital Anomalies and Fetal Surgery
- Muscle activation and electromyography studies
- RNA modifications and cancer
- Cerebral Palsy and Movement Disorders
- Cardiac Structural Anomalies and Repair
- Cardiomyopathy and Myosin Studies
- Transcranial Magnetic Stimulation Studies
- Congenital heart defects research
- Child Nutrition and Feeding Issues
- Genetics and Neurodevelopmental Disorders
- Family and Disability Support Research
- Congenital Heart Disease Studies
- Neonatal Respiratory Health Research
- CRISPR and Genetic Engineering
- Advanced Sensor and Energy Harvesting Materials
- Amyotrophic Lateral Sclerosis Research
- Vitamin D Research Studies
- Biotin and Related Studies
- Congenital Diaphragmatic Hernia Studies
- Bone health and osteoporosis research
- Non-Destructive Testing Techniques
- Graphite, nuclear technology, radiation studies
Centro Clinico Nemo
2016-2024
Agostino Gemelli University Polyclinic
2019-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2022-2024
Università Cattolica del Sacro Cuore
2013-2019
University of Messina
2019
Catholic University of America
2013-2014
Rockwell Automation (United States)
1968
ABSTRACT Introduction There is a growing need for robust clinical measure to assess upper limb motor function in spinal muscular atrophy (SMA), as the available scales lack sensitivity at extremes of spectrum. We report development Revised Upper Limb Module (RULM), an assessment specifically designed SMA patients. Methods An international panel with specific neuromuscular expertise performed thorough review currently SMA. This facilitated revision existing make more scale. Results Multiple...
The 6 minute walk test has been recently chosen as the primary outcome measure in international multicenter clinical trials Duchenne muscular dystrophy ambulant patients. aim of study was to assess spectrum changes at 3 years individual measures, their correlation with steroid treatment, age and values baseline. Ninety-six patients from 11 centers were assessed baseline 12, 24 36 months after using North Star Ambulatory Assessment. Three boys (3%) lost ability perform within 12 months,...
Reports on the clinical meaningfulness of outcome measures in spinal muscular atrophy (SMA) are rare. In this two-part study, our aim was to explore patients’ and caregivers’ views relevance Hammersmith Functional Motor Scale Expanded- (HFMSE). First, we used focus groups including SMA patients caregivers their individual activities included HFMSE. Then asked comment possible changes HFMSE scores over time. As functional data were available, some questions tailored according level Part 1:...
Objective In the last few years some of therapeutical approaches for Duchenne muscular dystrophy (DMD) are specifically targeting distinct groups mutations, such as deletions eligible skipping individual exons. The aim this observational study was to establish whether patients with mutations have different profiles changes on 6 minute walk test (6MWT) over a 12 month period. Methods 6MWT performed in 191 ambulant DMD boys at baseline and months later. results were analysed using...
Background The role of timed items, and more specifically, the time to rise from floor, has been reported as an early prognostic factor for disease progression loss ambulation. aim our study was investigate possible effect floor test on changes observed 6MWT over 12 months in a cohort ambulant Duchenne boys. Subjects methods A total 487 12-month data points were collected 215 age ranged between 5.0 20.0 years (mean 8.48 ±2.48 DS). Results results at baseline 1.2 29.4 seconds boys who could...
The aim of the study was to establish 24 month changes in upper limb function using a revised version performance test (PUL 2.0) large cohort ambulant and non-ambulant boys with Duchenne muscular dystrophy identify possible trajectories progression. Of 187 patients studied, 87 were (age range: 7–15.8 years), 90 9.08–24.78). total scores changed significantly over time (p<0.001). Non-ambulant had lower at baseline (mean 19.7) when compared ones 38.4). They also bigger decrease months (4.36 vs...
Individuals with spinal muscular atrophy (SMA) type 3 are able to walk but they have weakness, gait impairments and fatigue. Our primary study objective was examine longitudinal changes in the six-minute test (6MWT) evaluate whether age SMA subtype associated decline ambulatory function. Data from three prospective natural history studies were used. Seventy-three participants who performed 6MWT more than once, at least 6 months apart, included; follow-up ranged 0.5–9 years. Only data...
The advent of therapeutic approaches for Duchenne muscular dystrophy (DMD) has highlighted the need to identify reliable outcome measures young boys with DMD. aim this study was develop a revised version North Star Ambulatory Assessment (NSAA) suitable between age 3 and 5 years by identifying appropriate items revising scoring system accordingly. Using scale in 171 controls 2.9 4.8 years, we identified that were at different points. An item defined as if it completed, achieving full score,...
The aim of this study was to establish the possible effect glucocorticoid treatment on upper limb function in a cohort 91 non-ambulant DMD boys and adults age between 11 26 years. All were assessed using Performance Upper Limb test. Forty-eight still after loss ambulation, 25 stopped steroids at time they lost ambulation 18 GC naïve or had while ambulant for less than year. At baseline total scores ranged 0 74 (mean 41.20). mean 47.92 group, 36 those who 30.5 group (p < 0.001). 12-month...
<h3>Objective</h3> To report the long-term progression in a cohort of patients with type II spinal muscular atrophy (SMA) assessed Hammersmith Functional Motor Scale–Expanded. <h3>Methods</h3> Seventy-three (age 2.6–25 years) were included study. Twenty-eight 73 first before age 5 years and had been followed up for ≈5 or longer. We observed an overall that was not linear. A piecewise regression analysis showed improvement scores younger point slope change at age, decline between 13...
The Performance of Upper Limb (PUL) test was specifically developed for the assessment upper limbs in Duchenne muscular dystrophy (DMD). first published data have shown that early signs involvement can also be found ambulant DMD boys. aim this longitudinal Italian multicentric study to evaluate correlation between 6 Minute Walk Test (6MWT) and PUL Both 6MWT were administered 164 boys age 5.0 16.17 years (mean 8.82). minute walk distance (6MWD) ranged 118 557 (mean: 376.38, SD: 90.59). total...
We describe the development of a new tool specifically designed to record oral abilities, swallowing and, more generally, feeding in young type 1 SMA patients, be used during first 24 months life. The is composed by checklist and separate section summarizing functional abilities into levels feeding/swallowing impairment. includes 12 questions assessing aspects thought clinically meaningful for population developmentally appropriate infants Each item graded with score 0 or 1, depending on...
Progressive weakness can affect bulbar muscles in individuals with moderate to severe forms of spinal muscular atrophy (SMA). The paucity standardized, valid assessments capturing clinically significant deficits SMA impedes the ability monitor function, facilitate intervention, or detect treatment response.To fill this void, an international multidisciplinary team gathered develop agreed upon consensus-derived assessment function for inter-professional administration enhance our disease...
Purpose: To quantitatively describe passive lower extremity range of motion in participants with spinal muscular atrophy (SMA) types 2 and 3, to establish preliminary thresholds identify individuals at risk for performing poorly on disease-specific motor function outcome measures. Methods: Eighty SMA enrolled an international multicenter natural history study, were evaluated testing the Hammersmith Functional Motor Scale-Expanded. Results: A hip extension joint angle −7.5° or less type 0° 3...
The aim of the study was to evaluate spectrum upper limb functional activities and imaging finding in a cohort patients affected by Duchenne muscular dystrophy. Thirty-one age between 5 29 years were included (17 ambulant 14 non-ambulant). They all assessed using Performance Upper Limb (PUL) test muscle MRI shoulder, arm forearm order establish if scores obtained at mid distal level related specific patterns involvement each segment on MRI. At shoulder level, latissimus dorsi, serratus...
Abstract Objective To investigate ultrasound features of diaphragm motion and function in type 1 spinal muscular atrophy (SMA‐1) patients. Design Prospective study. Patients The study cohort included SMA‐1 children younger than 18‐year‐old. Control subjects 2 3 SMA other neuromuscular disorders Methodology Diaphragm evaluating diaphragmatic excursion, speed contraction, duration the respiratory cycle, inspiratory/expiratory relationship, end‐inspiratory ‐expiratory thickness, thickening...