Search results for "Neuropsichiatria infantile"
showing 10 items of 201 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…
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 [...]
Les compléments neurophysiologiques du diagnostic
2009
Les recherches presentees mettent en evidence des relations entre anomalies comportementales et cognitives et dysfonctionnements cerebraux sous-jacents a partir de methodes d'exploration electrophysiologique non invasives (electroencephalogramme, potentiels evoques auditifs). Trois types de troubles sont etudies : les troubles du sommeil, l'intolerance au changement et l'exploration visuelle atypique des visages humains. La complementarite des approches cliniques et neurophysiologiques est cruciale aux etapes du diagnostic fonctionnel, de l'intervention therapeutique et educative.
L'alessitimia come disturbo della regolazione affettiva
2014
Alexithymia is a theoretical construct concerning the ability to contact our feelings and the ability to describe them in words. It is very useful in clinical experience and also in empirical research for its operationalization and applicability possibility. After more than 40 years from its original definition, with clinical observation of patients defined “psychosomatics” according a classic definition, alexithymia has become one of the most investigated disease in the last decades. This paper aims to explore etiopathogenetic hypotheses and contemporaneous prospective within which it is possible to understand the relevance of the construct both in clinical experience and in empirical rese…
Utilisation de stéroïdes anabolisants chez des adolescents ayant une activité sportive
2018
Resume But de l’etude Jusqu’a ces dernieres annees, l’utilisation de SAA etait reservee exclusivement aux athletes professionnels. Dans les pays anglo-saxons, l’usage des SAA a une large diffusion parmi les adolescents et les lyceens. En Australie, aux Etats-Unis et en Angleterre, l’utilisation des SAA pourrait devenir un probleme de societe a moins qu’il ne le soit deja, du fait des troubles du comportement chez les consommateurs. La litterature met en evidence, chez les utilisateurs de SAA, la consommation concomitante de nombreuses autres substances, susceptibles de favoriser des comportements agressifs et dangereux envers autrui et envers soi-meme. L’objet de cette etude concerne les ha…