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educação diferente

Projecto da responsabilidade da apie - Associação Portuguesa de Investigação Educacional - Educação Especial e Deficiência.

educação diferente

Projecto da responsabilidade da apie - Associação Portuguesa de Investigação Educacional - Educação Especial e Deficiência.

INDIA

Fragile X Syndrome

The Fragile X Society is based in Mumbai, India, and has successfully created a network all over the country with parents and eminent doctors. The society promotes public and professional awareness. We extend help to families with affected children in terms of literature (translated versions available on request), guidance and a deep understanding of how Fragile X can impact families. We also hold seminars, workshops and conferences in Mumbai and various parts of the country.


Children with autism and fragile x syndrome are visual learners and have some unique learning styles. The Fragile X society has educational and therapeutic resources which have been carefully researched and sourced. The right teaching tools clubbed with effective strategies have shown brilliant results. We can help empower you to teach them the way they can learn. 

Fragile X Syndrome (FXS), the most common cause of inherited mental impairment. This impairment can range from learning disabilities to more severe cognitive or intellectual disabilities. (Sometimes referred to as mental retardation.) FXS is the most common known cause of autism or "autistic-like" behaviors. Symptoms also can include characteristic physical and behavioral features and delays in speech and language development. 
Fragile X-associated Primary Ovarian Insufficiency (FXPOI), a problem with ovarian function which can lead to infertility and early menopause in some female gene carriers.
Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), a condition which affects balance, tremor and memory in some older male gene carriers. 

Fragile X Syndrome
Fragile X syndrome is a genetic condition which is caused by a change in a gene that is inherited at the time of conception. This gene, called the FMR1 gene is found on the X chromosome. When this gene change occurs the FMR1 gene does not work properly. The FMR1 gene is responsible for making a protein that is important in brain development. Therefore when the gene is not working properly brain function including learning, behavior and communication is affected. 
Characteristics of fragile X syndrome can include:

  • attention problems
  • hand flapping
  • delayed development
  • long, narrow face
  • delayed speech
  • prominent ears & forehead
  • poor eye contact
  • large testicles

Note that physical features may not develop until puberty and that some individuals may not exhibit these characteristics. 

Fragile X includes:
Fragile X syndrome (FXS), the most common cause of inherited mental impairment. This impairment can range from learning disabilities to more severe cognitive or intellectual disabilities. (Sometimes referred to as mental retardation.) FXS is the most common known cause of autism or "autistic-like" behaviors. Symptoms also can include characteristic physical and behavioral features and delays in speech and language development. 
Fragile X-associated tremor/ataxia syndrome (FXTAS), a condition which affects balance, tremor and memory in some older male gene carriers. 
Fragile X-associated primary ovarian insufficiency (FXPOI), a problem with ovarian function which can lead to infertility and early menopause in some female gene carriers.

Fragile X can be determined with a blood test which is available in India. The blood test is usually supported with clinical symptoms to arrive at an accurate diagnosis.

The same DNA test used to diagnose fragile X syndrome is used to test for FXTAS and POF.

Who should be tested for Fragile X ?

  • Individuals with Autism/autistic features.
  • Family history of Fragile X or relatives with undiagnosed MR.
  • Females with fertility problems.
  • Aged persons having ataxia like features.

The Fragile X Society - India 

http://www.fragilex.in/