Search results for "Psichiatria"
showing 10 items of 426 documents
Autism spectrum disorders in children affected by Duchenne muscular dystrophy
2018
Background Duchenne muscular dystrophy (DMD) is the most frequent and severe form of the dystrophinopathies. The literature shows that about 30-40% of DMD subjects have intellectual disability. In males with Duchenne muscular dystrophy, neuropsychiatric disorders have also been observed: attention deficit disorder and hyperactivity, autism spectrum disorders, and obsessive-compulsive disorder. Duchenne muscular dystrophy is not just a muscle disorder, but also a disease that affects the brain. The aim of the present study was to describe a case series of children with Duchenne muscular dystrophy that have also the presence of autism spectrum disorders (ASDs). They have been assessed by mean…
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes
2017
Targeted resequencing gene panels are used in the diagnostic setting to identify gene defects in epilepsy. We performed targeted resequencing using a 30-genes panel and a 95-genes panel in 349 patients with drug-resistant epilepsies beginning in the first years of life. We identified 71 pathogenic variants, 42 of which novel, in 30 genes, corresponding to 20.3% of the probands. In 66% of mutation positive patients seizures onset occurred before age 6 months. The 95-genes panel allowed a genetic diagnosis in 22 (6.3%) patients that would have otherwise been missed using the 30-gene panel. About 50% of mutations were identified in genes coding for sodium and potassium channel components. SCN2…
Non-Rapid Eye Movement Sleep Parasomnias and Migraine: A Role of Orexinergic Projections
2018
Introduction: Sleep and migraine share a common pathophysiological substrate, although the underlying mechanisms are unknown. The serotonergic and orexinergic systems are both involved in the regulation of sleep/wake cycle, and numerous studies show that both are involved in the migraine etiopathogenesis. These two systems are anatomically and functionally interconnected. Our hypothesis is that in migraine a dysfunction of orexinergic projections on the median raphe (MR) nuclei, interfering with serotonergic regulation, may cause Non-Rapid Eye Movement parasomnias, such as somnambulism. Hypothesis/theory: Acting on the serotonergic neurons of the raphe nuclei, the dysfunction of orexinergic…
The quality of life in girls with Rett syndrome
2016
Nowadays, quality of life is receiving an increasing attention in all scientific areas. Rett syndrome (RTT) is a rare neurological development, affecting mainly females. The congenital disease affects the central nervous system, and is one of the most common causes of severe intellectual disability. The aim of our study is to evaluate the effect of RTT on the quality of life of people who are affected. Both parents of 18 subjects, all female, diagnosed with RTT, took part in the research. Quality of life was assessed using the Italian version of the Impact of Childhood Illness Scale. This scale consists of 30 questions that investigate the effect of illness on children, parents and families…
Non-invasive Brain Stimulation in Pediatric Migraine: A Perspective From Evidence in Adult Migraine
2019
Pediatric migraine remains still a challenge for the headache specialists as concerns both diagnostic and therapeutic aspects. The less ability of children to describe the exact features of their migraines and the lack of reliable biomarker for migraine contribute to complicate the diagnostic process. Therefore, there's need for new effective tools for supporting diagnostic and therapeutic approach in children with migraine. Recently, promising results have been obtained in adult headache by means of application of neurostimulation techniques both for investigating pathophysiological mechanisms and also for therapeutical applications. Non-invasive brain stimulation (NIBS) techniques like tr…
Cognitive functioning throughout adulthood and illness stages in individuals with psychotic disorders and their unaffected siblings
2021
The European Community’s Seventh Framework Programme under grant agreement No. HEALTH-F2-2010-241909 (EUGEI); The Spanish sample was supported by the Spanish Ministry of Science and Innovation, Instituto de Salud Carlos III (SAM16PE07CP1, PI16/02012, PI19/024) (...)
A computational approach for the assessment of executive functions in patients with obsessive-compulsive disorder
2019
Previous studies on obsessive–compulsive disorder (OCD) showed impairments in executive domains, particularly in cognitive inhibition. In this perspective, the use of virtual reality showed huge potential in the assessment of executive functions; however, unfortunately, to date, no study on the assessment of these patients took advantage of the use of virtual environments. One of the main problems faced within assessment protocols is the use of a limited number of variables and tools when tailoring a personalized program. The main aim of this study was to provide a heuristic decision tree for the future development of tailored assessment protocols. To this purpose, we conducted a study that…
Metacognitive Therapy in Patients with Tinnitus: a Single Group Study
2019
Tinnitus is often in comorbidity with anxiety and depression, and several authors have proposed a reduced efficiency of the top-down executive control in its perception. This single-group study describes a novel application of the metacognitive therapy (MCT), which works on a top-down engagement of proactive attentional control mechanisms on a group of patients with tinnitus, to see its impact on the perception of tinnitus and its anxiety and depression correlates. Eight metacognitive therapy group-sessions were proposed to a group of nine patients, as part of a regional project conducted at the University General Hospital “Paolo Giaccone” of Palermo. The last was a follow-up session, propo…
Adventures of Clinical Psychology
2021
Clinical psychology strives to fully grasp the person in his totality and in his individuality, helping him adequately address his own deep internal suffering and discomfort, social uneasiness, and harmonize his own needs, desires and, attachments [...]
NUOVE DIPENDENZE. ETIOLOGIA, CLINICA E TRATTAMENTO DELLE DIPENDENZE "SENZA DROGA". VOLUME MONOGRAFICO RIVISTA NOOS
2008
IL VOLUME RACCOGLIE ARTICOLI RELATIVI AL TEMA DELLE DIPENDENZE SENZA DROGHE, CON PARTICOLARE RIFERIMENTO AL GIOCO D'AZZARDO, ALL'INTERNET ADDICTION, ALLO SHOPPING COMPULSIVO. TALI DISTURBI VENGONO AFFRONTATI DAL PUNTO DI VISTA ETIOLOGICO, DIAGNOSTICO E TERAPEUTICO.