Search Results - "Casiraghi, Jacopo"
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A preliminary comparison between ECAS and ALS-CBS in classifying cognitive–behavioural phenotypes in a cohort of non-demented amyotrophic lateral sclerosis patients
Published in Journal of neurology (01-04-2022)“…To define the presence and type of frontotemporal dysfunction in amyotrophic lateral sclerosis (ALS), different screening tools have been created. Currently,…”
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2
Wheelchair hockey improves quality of life in people with neuromuscular disease
Published in PM & R (01-12-2022)“…Background Participation in sports is known to have positive effects on people's health and psychosocial well‐being. Recently, physical activity implications…”
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12‐Month progression of motor and functional outcomes in congenital myotonic dystrophy
Published in Muscle & nerve (01-03-2021)“…Background We aim to describe 12‐mo functional and motor outcome performance in a cohort of participants with congenital myotonic dystrophy (CDM). Methods CDM…”
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Standardization of the Italian ALS-CBS™ Caregiver Behavioral Questionnaire
Published in Frontiers in psychology (20-01-2023)“…The present investigation aimed at testing the psychometrics and diagnostics of the Italian version of the Caregiver Behavioral Questionnaire (CBQ) from the…”
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Assessment of Respiratory Function and Need for Noninvasive Ventilation in a Cohort of Patients with Myotonic Dystrophy Type 1 Followed at One Single Expert Center
Published in Canadian respiratory journal (18-06-2022)“…Introduction. Respiratory insufficiency is one of the main causes of death in myotonic dystrophy type 1 (DM1). Although there is general consensus that these…”
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The upper extremity functional index (UEFI): Italian validation in patients with Facioscapulohumeral muscular dystrophy
Published in Disability and rehabilitation (16-07-2024)“…The aim of this study was to adapt the Upper Extremity Functional Index (UEFI) to an Italian population affected by Facioscapulohumeral muscular dystrophy…”
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The facioscapulohumeral muscular dystrophy - health index: Italian validation of a disease-specific measure of symptomatic burden
Published in Disability and rehabilitation (07-05-2024)“…Facioscapulohumeral muscular dystrophy (FSHD) negatively impacts the quality of life and increases the disease burden. It is important for the clinical…”
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Equating norms between the ALS Cognitive Behavioral Screen (ALS-CBS™) and the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) in non-demented ALS patients
Published in Journal of neurology (01-08-2023)“…Background The present study aimed at deriving equating norms to estimate scores on the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) based on those on…”
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Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment?
Published in Neuromuscular disorders : NMD (01-10-2023)“…•The study reports cognitive profiles of a large cohort of SMA type II and III patients.•Intellectual disability was uncommon.•Some indexes showed relatively…”
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Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach
Published in Dysphagia (01-12-2023)“…Bulbar and jaw muscles are impaired in patients with Spinal Muscular Atrophy (SMA) but the assessment of their severity and progression are limited by the lack…”
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Clinimetrics of the cognitive section of the Italian ALS Cognitive Behavioral Screen (ALS-CBS™)
Published in Neurological sciences (01-04-2023)“…Background The present study aimed at (1) providing further validity and reliability evidence for the Italian version of the cognitive section of the ALS…”
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An observational study of functional abilities in infants, children, and adults with type 1 SMA
Published in Neurology (21-08-2018)“…OBJECTIVETo report cross-sectional clinical findings in a large cohort of patients affected by type 1 spinal muscular atrophy. METHODSWe included 122 patients,…”
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The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure
Published in Neuromuscular disorders : NMD (01-05-2021)“…•SMAHI-IT shows excellent test-retest reliability and internal consistency.•SMAHI-IT is able to differentiate between SMA types based on severity.•SMAHI-IT can…”
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Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience
Published in Neuromuscular disorders : NMD (01-12-2017)Get full text
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Caregivers' Expectations on Possible Functional Changes following Disease-Modifying Treatment in Type II and III Spinal Muscular Atrophy: A Comparative Study
Published in Journal of clinical medicine (21-06-2023)“…The primary aim of this study was to explore current caregivers' expectations on possible functional changes following treatment in comparison to data obtained…”
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Management of respiratory complications and rehabilitation in individuals with muscular dystrophies: 1st Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Milan, January 25-26, 2019)
Published in Acta myologica (01-03-2021)“…Respiratory complications are common in the patient with muscular dystrophy. The periodic clinical and instrumental respiratory evaluation is extremely…”
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Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care
Published in Neurological sciences (01-02-2019)“…Nusinsersen is now available in Italy for all SMA types. We describe the experience with intrathecal treatment with nusinersen in 50 patients with SMA at the…”
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Cost of illness of spinal muscular atrophy (SMA) in Italy
Published in Global & regional health technology assessment (Online) (02-09-2019)Get full text
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Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1-Results from a Retrospective Analysis in Italy
Published in Journal of clinical medicine (14-09-2024)“…Sleep disorders have been poorly described in congenital (CDM) and childhood (ChDM) myotonic dystrophy despite being highly burdensome. The aims of this study…”
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Cost of illness of spinal muscular atrophy (SMA) in Italy
Published in Global & regional health technology assessment (Online) (01-08-2019)“…The objective of this study was to estimate the indirect and direct non-health costs associated with spinal muscular atrophy (SMA), a disease that burdens the…”
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