SINDROME DE X FRAGIL PDF

En este artículo se describe el fenotipo conductual de las personas con el Síndrome X Frágil y las repercusiones que tiene en el ámbito educativo. Síguenos en Facebook. El retraso mental es uno de los grandes problemas médico-sociales con los que se enfrentará la sociedad del siglo xxi. Los avances en el campo de la.

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Present to your audience Start remote presentation. The main difficulties in individuals with FXS are with working and short-term memory, executive functionvisual memory, visual-spatial relationships, and mathematics, with verbal abilities being relatively spared. Facultad de Ciencias de la Salud.

Síndrome X fràgil – Viquipèdia, l’enciclopèdia lliure

Medical intervention is based in the use of stimulating medicine ce treat the hyperactivity sindrome de x fragil lack of capacity of attention on children with SXF. Reset share links Resets both viewing and editing links coeditors shown below are not affected. Evidence from mouse models shows that mGluR5 antagonists blockers can rescue dendritic spine abnormalities and seizures, as well as cognitive and behavioral problems, sindeome may show promise in the treatment of FXS.

Before the FMR1 gene was discovered, analysis of pedigrees showed the presence of male carriers who were asymptomatic, with their grandchildren affected by the condition at a higher rate than their siblings suggesting that sindrome de x fragil anticipation was occurring.

Unidad de Fisioterapia y Terapia Ocupacional. None of his sons will be carriers, and all will be clinically healthy. Como bien dice su nombre esta enfermedad esta ligada al cromosoma X y afecta en sindrome de x fragil porcentaje a los hombres, siendo las mujeres portadoras.

Cancel Reply 0 characters used from the allowed. In conclusion, none of his male descendants will manifest the syndrome and therefore it is not recommended tests for them.

Although individuals with FXS have difficulties in forming friendships, those with FXS and ASD characteristically also have difficulties with reciprocal conversation with their peers.

Other websites Elsevier Elsevier Portugal Dfarmacia.

With heritage link with X cromosome, this symdrome could cause intellectual and cognoscitive deficit with ranges from slight difficulties in sindrome de x fragil and an average quatient intellect to great mental retardation and autism behavior. From their 40s onward, males with FXS begin developing progressively more severe problems in performing tasks that require the central executive of working memory. Genetic X-linked dominant [1]. Fragile X sybndrome and genetic diagnosis since the s” PDF.

FXS laboratory diagnosis should include FMR1 gene studies and genetic counseling should be provided after the molecular test. Check out this article to learn more or contact your system administrator. This is sindrome de x fragil applied through several tharepies, including special education, speech and language therapy, occupational therapy and physiotherapy.

Síndrome X fràgil

The pre-mutation can sindrome de x fragil unchanged for several generations, or switch sindrome de x fragil full mutation in one generation, but the change always happens through a woman. Supportive careearly interventions [2]. Developmental Disabilities Research Reviews. Children with FXS may repeat a certain ordinary activity over and over.

Males often experience an impairment in the functioning of the phonological loop. In speech, the trend is not only in repeating the same phrase but also talking about the same subject continually.

Few studies suggested using folic acid, but more researches are needed due to the low quality of that evidence. El conjunto de todos los genes de un organismo se le llama genotipo y la expresion de estos se le llama fenotipo. Dyskeratosis congenita Hypohidrotic ectodermal dysplasia EDA X-linked ichthyosis X-linked endothelial corneal dystrophy.

Incidence of the disorder itself is about 1 in every males and 1 in — females.

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Clinically it is characterized by the presence of mild to moderate mental retardation, facial dysmorphism long triangular face, and large sindrome de x fragil ears and macro-orquidism. Genetic mouse models of FXS have sindrome de x fragil been shown to have autistic-like behaviors.

Fragile X syndrome is the most frequent cause of familial mental retardation and the second chromosomal disorder in frequency after Down syndrome.

Current trends in treating the disorder include medications for symptom-based treatments that aim to minimize the secondary characteristics associated with the disorder. Some individuals with fragile X syndrome also meet the diagnostic criteria for autism.

See more popular or the latest prezis. FMRP is found throughout the body, but in highest concentrations within the brain and testes.