APSXF - Associação Portuguesa da Síndrome do X-Frágil

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APSXF - Associação Portuguesa da Síndrome do X-Frágil

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Email

geral@apsxf.org

Website

www.apsxf.org

 

 

Phone

+351 967 271 404 / +351 214 562 190

Address

Rua Álvaro dos Reis nº 10

2710-526 São Pedro de Sintra

Sintra

What is the Portuguese Association for Fragile X Syndrome, APSXF?

Created by a group of Parents, APSXF aims to establish a strong line of communication between people with Fragile X, parents and family members,

doctors, psychologists, health professionals, education professionals, and all those interested in Fragile X Syndrome. Another goal of APSXF is to

promote and coordinate, with health and education professionals, specific programs that enhance preschool and school development,

in order to minimize the main disturbances experienced by people with FX Syndrome. Fragile X Syndrome (FXS) is the most common hereditary cause of intellectual disability.

What is Fragile X Syndrome, FXS? 

It is caused by an alteration or mutation of a single gene and can be passed on from one generation to the next. The mutation occurs on the

sex chromosome X, which is why boys, who have only one X chromosome, are more likely to be affected than girls. 85% of boys show a

significant cognitive deficit, while in girls the cognitive impairment is milder, affecting between 50% and 70%.