Search results for "infantile"

Characterisation of CDKL5 Transcript Isoforms in Human and Mouse.

2016

Mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5) cause early onset infantile spasms and subsequent severe developmental delay in affected children. Deleterious mutations have been reported to occur throughout the CDKL5 coding region. Several studies point to a complex CDKL5 gene structure in terms of exon usage and transcript expression. Improvements in molecular diagnosis and more extensive research into the neurobiology of CDKL5 and pathophysiology of CDKL5 disorders necessitate an updated analysis of the gene. In this study, we have analysed human and mouse CDKL5 transcript patterns both bioinformatically and experimentally. We have characterised the predominant brai…

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…

Structuration sociale de l’alimentation périnatale en France. Synthèse des résultats de la cohorte Elfe

2019

Tichit Christine, Kersuzan Claire, Dhuot Raphael, Gojard Séverine, Nicklaus Sophie, Bournez Marie, Lauzon-Guillain Blandine de, Wagner Sandra, Kadawathagedara Manik, Lioret Sandrine, Charles Marie-Aline, Thierry Xavier. Structuration sociale de l’alimentation périnatale en France. Synthèse des résultats de la cohorte Elfe. In: Revue des politiques sociales et familiales, n°129-130, 4e trimestre 2018 - 1er trimestre 2019. Dossier « Normes sociales et socialisation alimentaires ». pp. 99-107.

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 [...]

VALUTAZIONE E GESTIONE TERAPEUTICA DELLE PROBLEMATICHE UROLOGICHE IN PAZIENTI CON MALFORMAZIONE ANORETTALE

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.

UNA RARA CAUSA DI ADDOME ACUTO NELL'INFANZIA. L'Epiploite acuta segmentaria

1988

L'Epiploite acuta segmentaria è fra le cause più rare di addome acuto nell'infanzia. Gli Autori ne riportano tre casi.

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…