A5002715570- Neurogenetic and Muscular Disorders Research
- Genetics and Neurodevelopmental Disorders
- Muscle Physiology and Disorders
- Myasthenia Gravis and Thymoma
- Fetal and Pediatric Neurological Disorders
- Genetic Neurodegenerative Diseases
- Protein Tyrosine Phosphatases
- Mitochondrial Function and Pathology
- Prosthetics and Rehabilitation Robotics
- RNA modifications and cancer
- Spinal Dysraphism and Malformations
- Copyright and Intellectual Property
- Neuroblastoma Research and Treatments
- Freedom of Expression and Defamation
- Neurological and metabolic disorders
- Hereditary Neurological Disorders
- Metabolism and Genetic Disorders
- Multiple Sclerosis Research Studies
- Digital Rights Management and Security
- Biochemical and Molecular Research
- Cardiomyopathy and Myosin Studies
- Advanced Neuroimaging Techniques and Applications
- Peripheral Neuropathies and Disorders
- Colorectal Cancer Treatments and Studies
- Parkinson's Disease Mechanisms and Treatments
Ospedale Regina Margherita
2023
University of Turin
2021-2023
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...
Abstract Background and purpose Advances in multidisciplinary care are extending overall survival Duchenne muscular dystrophy (DMD) patients. Our research objective was to delineate the clinical characteristics of this particular cohort identify novel challenges associated with disease. Methods Nineteen individuals aged 25–48 years (median 34 years) a confirmed diagnosis out‐of‐frame DMD gene mutation were selected. Results All patients mechanically ventilated (5/19 via tracheostomy),...
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Central nervous system (CNS) involvement has been variously studied in pediatric neuromuscular disorders (NMDs). The primary goal of this study was to assess cognitive functioning NMDs, and secondary aims were investigate possible associations impairment with motor impairment, neurodevelopmental delay, genotype. This a cross-sectional 43 patients, affected by six NMDs. Myotonic dystrophy type 1 (DM1) glycogen storage disease 2 (GSD2) patients had delay on the Bayley-III scales. On Wechsler...
ABSTRACT: Objective: The objective of this study was to examine psychopathology and its impact on adaptive functioning in a sample patients affected by Noonan syndrome (NS), genetically heterogeneous condition with systemic manifestations. Method: Forty-two subjects NS (23 males 19 females), aged 5 21 years (mean 12.6 ± SD 5.1), were assessed for nonverbal cognitive abilities, dimensional measures psychopathology, functioning, family quality life. Results: intelligence quotient (IQ) mean...
The post-operative pediatric cerebellar mutism syndrome (CMS) affects about one-third of children and adolescents following surgical removal a posterior fossa tumor (PFT). According to the Posterior Fossa Society consensus working definition, CMS is characterized by delayed-onset mutism/reduced speech emotional lability after or 4th ventricle surgery in children, frequently accompanied additional features such as hypotonia oropharyngeal dysfunction/dysphagia. main objective this work was...
Innovative targeted treatments for neuromuscular disorders (NMDs) can dramatically improve the course of illness. Diagnostic delay, however, is a major impediment. Here, we present pilot project aimed at assessing feasibility screening program to identify children high risk NMDs within first 30 months life. The Promoting Early Diagnosis Neuromuscular Disorders (PEDINE) implemented three-step sequential in an area about 300,000 people with (1) assessment motor development milestones "red...
Juvenile Myasthenia Gravis (JMG) is a neuromuscular disease, often characterized at onset by fatigue and fluctuating weakness. We report case of girl affected severe mood disorder, in which the diagnosis JMG its treatment were challenged concomitant psychiatric condition. A 14-year-old girl, with history disorder emotional dysregulation, had been treated benzodiazepines, sertraline, antipsychotics, reporting generalized fatigability, weakness, drowsiness, first ascribed to her condition...
Abstract BACKGROUND: The post-operative Pediatric Cerebellar Mutism Syndrome (CMS) affects about one-third of children and adolescents following surgical removal a posterior fossa tumor (PFT). According to the Posterior Fossa Society consensus working definition, CMS is characterized by delayed onset mutism/reduced speech emotional lability after cerebellar or 4th ventricle surgery in children, with additional common features that include hypotonia oropharyngeal dysfunction/dysphagia. main...