Key issues in Rett syndrome: emotional, behavioural and autonomic dysregulation (EBAD) - a target for clinical trials
نویسندگان
چکیده
منابع مشابه
Rett syndrome: a wide clinical and autonomic picture
BACKGROUND Rett Syndrome is a neurodevelopmental disorder almost exclusively affecting females, characterized by a broad clinical spectrum of signs and symptoms and a peculiar course. The disease affects different body systems: nervous, muscolo-skeletal, gastro-enteric. Moreover, part of the symptoms are related to the involvement of the autonomic nervous system. In the Tuscany Rett Center at V...
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This study was designed to specifically characterize the autonomic phenotype of cardiorespiratory dysregulation during the nighttime in young girls with MECP2 mutation-confirmed Rett Syndrome (RS), studied in their home environment. Computerized breath-to-breath and beat-to-beat characterization of at-home continuously recorded respiratory inductance plethysmography of chest/abdomen and ECG (Vi...
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this study intends to investigate samuel beckett’s waiting for godot and endgame under the lacanian psychoanalysis. it begins by explaining the most important concepts of lacanian psychoanalysis. the beckettian characters are studied regarding their state of unconscious, and not the state of consciousness as is common in most beckett studies. according to lacan, language plays the sole role in ...
rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (rohhad) syndrome: a case report
introduction rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (rohhad) is a rare disease. to date, there have been only few reported cases of rohhad syndrome. conclusions only a few case reports have described rohhad syndrome, and it is therefore difficult to manage. in children with rapid and early-onset obesity associated with hypothalamic-pituit...
متن کاملThe autonomic and behavioral profile of emotional dysregulation.
The authors describe a patient with focal brain atrophy and emotional lability characterized by episodes of excessive crying and laughing. The patient was selectively impaired in the production of voluntary complex facial movements and was unable to regulate her emotional behavior and autonomic reactivity. She also displayed increased behavioral and autonomic changes when explicitly trying to s...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2018
ISSN: 1750-1172
DOI: 10.1186/s13023-018-0873-8