Sndrome do X Frgil Tcnica de diagnstico antes da descoberta do FMR-1: http://www.portalsaofrancisco.com.br/alfa/citogenetica/citogenetica.

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Algumas matrias: Wikipedia - http://pt.wikipedia.org/wiki/S%C3%ADndrome_do_X_fr%C3%A1gil Blog - http://segundosprofes.blogspot.com.br/2010/11/sindroma-de-x-fragil-font-facefont.html Imagem explicativa http://gabrielaguarnieripsicopedagoga.blogspot.com.br/2013/01/sindrome-x-fragil.html Biologia Gentica - http://biogeneticarau.blogspot.com.br/2012/09/sindrome-do-x-fragil.html Tabela de doenas neurodegenerativas http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1998000400019 Sndrome do X Frgil - http://www.fragilex.org/fragile-x-associated-disorders/fragile-xsyndrome/

Reportagens sobre Messi e a Sndrome do X Frgil: http://xfragilsc.blogspot.com.br/2012/09/semana-do-x-fragil-coloca-em-debate.html http://futebolnas4linhas.wordpress.com/2013/04/03/lionel-messi-e-a-sua-constantesuperacao-para-se-tornar-o-melhor-do-mundo/ http://www.deficienteciente.com.br/2011/07/jogador-messi-de-autista-e-anao-a-bola-deouro.html http://www.doentesporfutebol.com.br/2013/04/02/nada-e-impossivel/

Associao Catarinense da Sndrome do X Frgil: http://xfragilsc.blogspot.com.br/ Hoje, a Sndrome do X-Frgil considerada a causa mais comum de autismo ou de comportamentos semelhantes ao autismo, como por exemplo, respostas estranhas a determinados estmulos, resistncia a mudanas, apego anormal a objetos inanimados, entre outros. Por causa disso, muitas vezes as famlias procuram mdicos, psiclogos e outros profissionais, queixando-se de atitudes anormais de seus filhos, semelhantes ao autismo, e acabam descobrindo, pela realizao de teste gentico, que tm filhos portadores do X-Frgil. Alm disso, importante tambm que os profissionais que lidam com essas crianas estejam preparados e conscientes de que, quando crianas chegam aos seus consultrios ou ambientes

de trabalho com sintomas como esses citados acima, preciso que se pense na Sndrome e que se realize teste gentico para sua confirmao.

Sndrome do X Frgil e o Autismo: Casos de autismo podem ser resultado de SXF O autismo tem vrias formas, e uma de suas causas pode ser a SXF. A SXF frequentemente diagnosticada em crianas com autismo. Pensa-se que aproximadamente 7% dos rapazes e 5% das raparigas com autismo estejam afetados pela SXF. Por isso, todas as crianas com autismo de causa desconhecida devem ser rastreadas para a SXF. http://diferencaseinclusao.blogspot.com.br/2012/05/sindrome-do-x-fragil.html

Autismo e Sndrome do X Frgil: http://www.fragilex.org/fragile-x-associateddisorders/fragile-x-syndrome/autism-and-fragile-x-syndrome/ Autism is caused by a number of different factors, some genetic and some non genetic. Much remains unknown about the conditionincluding what causes it in many individual cases. When a child is diagnosed with autism, blood tests are often ordered rule out the known genetic causes. Fragile X Syndrome is the most common known genetic (single gene) cause of autism. Other genetic causes include deletions of chromosome 15q, tuberous sclerosis, PKU and other rare genetic conditions. Whereas autism is a behavioral diagnosis, fragile X syndrome (FXS) is a medical or more accurately, a genetic diagnosis. When associated with FXS, the autism is caused by the genetic change or mutation in the Fragile X gene. This is similar to other conditions such as Down syndrome. Individuals with Down syndrome can also have other conditions, including autism, hearing loss, diabetes and other behavioral and medical conditions. If a child is diagnosed with autism and then diagnosed with FXS, he or she still has autism, it is just that the cause of their autism is known. It is no different than someone with FXS also having ADHD or any other behavioral symptom of FXS. Since many children with FXS are interested in social interactions, they may not meet the diagnostic criteria for autism, even as they exhibit autistic-like features such as poor eye contact, shyness, social anxiety, hand-flapping and sensory issues. Autism is much more common in boys with FXS than in girls with FXS. Approximately 2-6 percent of children with autism are diagnosed with FXS. Given the possibility of a link, it is recommended that all children with autism, both male and female, be referred for genetic evaluation and testing for FXS and any other genetic cause of autism.

Influncia da protena FMRP no desenvolvimento neuronal: http://diferencas.net/site/documentos/sindrome_x_fragil.pdf

Diagnstico: http://www.fragilex.org/fragile-x-associated-disorders/testing/ http://aetapi.org/congresos/donosti_08/inicio_archivos/C1-Diagnosticodiferencial%20SXF.pdf