Discover our Network of Fragile X Organizations and their websites
Berlin/Sacramento — The International Fragile X Alliance (IFXA), a global network of Fragile X parent support organizations, was launched on February 29, 2016. IFXA will work to improve the life situation of people with the most common inherited form of intellectual disability, Fragile X Syndrome, as well as other Fragile X-associated Disorders. Members of the Alliance will share experiences, knowledge and content with one another in service to the worldwide Fragile X community. The Alliance launched with 28 Fragile X parent support organizations from 24 countries on five continents. IFXA will also help to form new organizations in those countries where little or no support exists for families. Please see www.ifxa.net for more information.
Jessica Wright 8 May 2014 Social anxiety: Children with autism and those with fragile X syndrome both avoid eye contact — but children with fragile X syndrome may sneak a peek once the other person’s back is turned. Fragile X syndrome is an inherited form of intellectual disability often linked to autism: about one-third of people with fragile X syndrome also have an autism diagnosis. Several studies in the past few months, however, suggest that the set of autism-like symptoms seen in people with fragile X syndrome only superficially resemble those of the classic definition of autism(1, 2). Fragile X syndrome results from mutations in a single gene, FMR1. The fragile X protein also influences the expression of several autism-linked genes. With this known entry point, research into treatments for the syndrome has surged ahead. In contrast, autism is genetically complex, and as a result is diagnosed based primarily on behavioral symptoms. Many children with well-characterized genetic disorders, fragile X syndrome included, show some of the symptoms associated with autism, and often merit a diagnosis of the disorder — some researchers have begun referring to these subtypes of the disorder as “autisms.” But what is labeled as autism in these […]
Fraxopathies by Filomena The fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency are conditions related to the X chromosome folate-sensitive fragile site FRAXA. Therefore, we propose that they are considered as a family of disorders under the general designation of FRAXopathies. The present review will outline the main clinical and molecular features of these disorders, with special emphasis on the pathogenic mechanisms that lead to distinct phenotypes, starting from related mutations. The understanding of these mechanisms is already generating promising therapeutic approaches.
Edel describes the experience of her son, who has fragile X, growing up and leaving home. Read more
Smaller expansions (41–54 CGG repeats) in the fragile X mental retardation 1 (FMR1) gene are termed “gray zone” alleles. Only recently has interest in these expansions increased due to reporting of phenotypes unique to gray zone carriers or similar to those seen in individuals with larger expansions. As minimal research has focused on gray zone expansions, this paper asks several questions related to this topic. These include the following: What is the definition of the gray zone? Is there a risk of developing neurological signs in these carriers? Are there secondary gene effects that impact gray zone alleles or a biologic advantage to carrying these repeats? How do we counsel patients with gray zone expansions? The answers to these questions will help to determine the significance of these expansions and provide needed information to the research community and clinicians. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4050171/#b53