Search results for " Disability"

Effects of l-Carnitine in Patients with Autism Spectrum Disorders: Review of Clinical Studies

2019

Carnitine is an amino acid derivative, which plays several important roles in human physiology, in the central nervous system, and for mitochondrial metabolism, in particular. Altered carnitine metabolic routes have been associated with a subgroup of patients with autism spectrum disorders (ASD) and could add to the pathophysiology associated with these disorders. We review the current evidence about the clinical effects of carnitine administration in ASD in both non-syndromic forms and ASD associated with genetic disorders. Two randomized clinical trials and one open-label prospective trial suggest that carnitine administration could be useful for treating symptoms in non-syndromic ASD. Th…

Challenging behaviour, and staff responses to it, in residential environments for people with intellectual disability in Finland

2002

The frequency and severity of challenging behaviour in all 261 adult residents of a single special care district in Finland were assessed using the modified version of the Scales of Independent Behavior Problem Behavior Inventory. The results showed that 70% of the residents with intellectual disability exhibited challenging behaviour that was considered to be more than a mild problem by the staff. The incidence of dangerous behaviour was 10%. Some form of negative intervention (restraints, punishment or environmental restrictions) was used for 56% of cases in which challenging behaviour was exhibited. Punishment was the most common consequence for dangerous behaviour. The staff in the smal…

Impact of daytime routine modifications on people with severe intellectual disability amid COVID‐19 pandemic

2021

Cyclophosphamide Pulse Therapy after Natalizumab Discontinuation for Multiple Sclerosis: a multicenter study.

2015

Importance: Natalizumab discontinuation induces the recurrence of Multiple Sclerosis (MS) disease activity: Currently no therapeutic approach has been found able to abolish disease reactivation. Objective: To collect data from patients with MS switching from natalizumab to cyclophosphamide. Design: Retrospective multicentre study. Setting: Nine Multiple Sclerosis Centers in Italy. Participants: A total of 47 patients with clinically definite RR-MS switched to cyclophosphamide after natalizumab discontinuation. Two patients were excluded from the analysis because received less than 12 natalizumab infusions. The remaining 45 patients were subdivided into two main groups: Early Treatment (peri…

Real-life impact of early interferonβ therapy in relapsing multiple sclerosis

2009

Objective: Recent findings support greater efficacy of early vs. delayed interferon beta (IFN) treatment in patients with a first clinical event suggestive of multiple sclerosis (MS). We aimed to evaluate the effectiveness of early IFN treatment in definite relapsing-remitting MS (RRMS) and to assess the optimal time to initiate IFN treatment with regard to the greatest benefits on disability progression. Methods: A cohort of 2,570 IFN-treated RRMS patients was prospectively followed for up to 7 years in 15 Italian MS Centers. A Cox proportional hazards regression model adjusted for propensity score (PS) quintiles was used to assess differences between groups of patients with early vs. dela…

2021

ObjectiveTo assess the safety and efficacy of epigallocatechin-3-gallate (EGCG) add-on to glatiramer acetate (GA) in patients with relapsing-remitting multiple sclerosis (RRMS).MethodsWe enrolled patients with RRMS (aged 18–60 years, Expanded Disability Status Scale [EDSS] score 0–6.5), receiving stable GA treatment in a multicenter, prospective, double-blind, phase II, randomized controlled trial. Participants received up to 800 mg oral EGCG daily over a period of 18 months. The primary outcome was the proportion of patients without new hyperintense lesions on T2-weighted (T2w) brain MRI within 18 months. Secondary end points included additional MRI and clinical parameters. Immunologic eff…

Correlation of cognition and FDG-PET findings in early multiple sclerosis

2007

Introduction: Patients with multiple sclerosis (MS), disease history of 11.5 years, an expanded disability status scale (EDSS) up to 6.0 and an involvement of verbal and/or spatial and long-term memory showed a bilateral reduction of glucose metabolism in the cingulate gyrus, thalamus, associative occipital cortex and cerebellum. To our knowledge no similar studies in early stages of MS are reported. Therefore we stressed the question of possible correlation of quality of life, objective cognitive impairment and FDG-PET findings in newly diagnosed definite MS according to McDonald criteria. Methods: In 11 patients (f=4, m=7, mean age: 35 years (CI 25–42), IQ 112 (CI 97–118)) with newly diag…

A transcranial magnetic stimulation study evaluating methylprednisolone treatment in multiple sclerosis

2002

Objective To investigate the efficacy of two different high doses of intravenous methylprednisolone (IVMP) during Multiple Sclerosis (MS) relapses. Background Transcranial Magnetic Stimulation (TMS) is the most sensitive neurophysiological ascertainment to quantify motor disability, to follow the recovery from an MS relapse, and to detect the response to treatment. Design and method Twenty-four clinically definite relapsing - remitting MS patients presenting a relapse were randomly assigned to a treatment for 5 days with IVMP 1 or 2 g/day. The response to treatment of each patient was evaluated through Expanded Disability Status Scale (EDSS), Medical Research Council (MRC) score, and TMS by…

Implementation of Sample Pooling Procedure Using a Rapid SARS-CoV-2 Diagnostic Real-Time PCR Test Performed Prior to Hospital Admission of People wit…

2021

Reliability, accuracy, and timeliness of diagnostic testing for SARS-CoV-2 infection have allowed adequate public health management of the disease, thus notably helping the timely mapping of viral spread within the community. Furthermore, the most vulnerable populations, such as people with intellectual disability and dementia, represent a high-risk group across multiple dimensions, including a higher prevalence of pre-existing conditions, lower health maintenance, and a propensity for rapid community spread. This led to an urgent need for reliable in-house rapid testing to be performed prior to hospital admission. In the present study, we describe a pooling procedure in which oropharyngeal…

LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.

2019

Abstract Alazami syndrome (AS) (MIM# 615071 ) is an autosomal recessive microcephalic primordial dwarfism (PD) with recognizable facial features and severe intellectual disability due to depletion or loss of function variants in LARP7. To date, 15 patients with AS have been reported. Here we describe two consanguineous Algerian sisters with Alazami PD due to LARP7 homozygous pathogenic variants detected by whole exome sequencing. By comparing these two additional cases with those previously reported, we strengthen the key features of AS: severe growth restriction, severe intellectual disability and some distinguishing facial features such as broad nose, malar hypoplasia, wide mouth, full li…