Neuropsicología Síndrome de Ehlers-Danlos. Propuesta de evaluación y rehabilitación

The Ehlers-Danlos Syndrome, hypermobile type (hEDS) is part of a group of inherited, multisystem connective tissue diseases that vary in how they affect the body and in their genetic causes. What is observed in affected people is an abnormal structure and function of collagen and certain connective...

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Detalles Bibliográficos
Autor: González Moncada, Mónica Cecilia
Tipo de recurso: tesis de maestría
Fecha de publicación:2022
País:España
Institución:Universitat Oberta de Catalunya (UOC)
Repositorio:O2, repositorio institucional de la UOC
OAI Identifier:oai:openaccess.uoc.edu:10609/146643
Acceso en línea:http://hdl.handle.net/10609/146643
Access Level:acceso abierto
Palabra clave:avaluació neuropsicològica
rehabilitació neuropsicològica
trastorn de l'espectre hipermòbil
evaluación neuropsicológica
rehabilitación neuropsicológica
trastorno del espectro hipermóvil
neuropsychological evaluation
neuropsychological rehabilitation
hypermobile spectrum disorder
Neuropsychology--Research -- TFM
Neuropsicologia--Investigació -- TFM
Neuropsicología--Investigación -- TFM
Descripción
Sumario:The Ehlers-Danlos Syndrome, hypermobile type (hEDS) is part of a group of inherited, multisystem connective tissue diseases that vary in how they affect the body and in their genetic causes. What is observed in affected people is an abnormal structure and function of collagen and certain connective tissue proteins. Ehlers-Danlos syndromes are considered rare diseases (1/5.000), and the hypermobile type is the most common variant. It is characterized by musculoskeletal complaints, including hypermobile joints, subluxations/ dislocations, as well as skin and soft tissue manifestations. Many patients present pain, chronic fatigue, dysautonomia and anxiety. Furthermore, they present neurocognitive-type symptoms that have been poorly studied. This work intends to emphasize the need to generate knowledge about EDS and the patients who suffer from these diseases. This work presents the fictional case of LG, a 50-year-old woman with a multidomain diffuse neurocognitive disorder profile beginning in adolescence, who meets criteria for mild neurocognitive impairment as a pathophysiologic consequence of hEDS. The patient, after receiving a diagnosis of hEDS according to the criteria of the new gnoseology (2017), has been referred for evaluation given the comorbidity of syndromes with neurocognitive difficulties and disorders. After the assessment, a multidisciplinary rehabilitation plan of 56 sessions has been proposed to improve the quality of life of LG and her immediate environment.