Fragile X Syndrome is a genetic condition that causes intellectual disability, behavioral and learning challenges, and various physical characteristics.
Intellectual Disability (ID) affects 3% of children. It results in delayed cognitive development and has significant effect on functioning in daily activities. An increasingly large proportion of children with ID are now found to have a genetic cause for their disability.
Fragile X Syndrome (FXS) is the most common cause of ID in males and affects 1 in 4000 children. It is also the leading cause of autism and can cause seizures in many patients. Novel therapeutic options are emerging with FXS.
FXS overlaps with other ID causes in terms of molecular pathways and is therefore believed that a better understanding of the disease will also help to better understand other causes of ID.
Intellectual Disability (ID) affects 3% of children. It results in delayed cognitive development and has significant effect on functioning in daily activities. An increasingly large proportion of children with ID are now found to have a genetic cause for their disability.
Fragile X Syndrome (FXS) is the most common cause of ID in males and affects 1 in 4000 children. It is also the leading cause of autism and can cause seizures in many patients. Novel therapeutic options are emerging with FXS.
FXS overlaps with other ID causes in terms of molecular pathways and is therefore believed that a better understanding of the disease will also help to better understand other causes of ID.
How can you participate in research on Fragile X Syndrome?
We are running several clinical trials exploring novel potential treatments for Fragile X as well as assessment of the quality of life for those with Fragile X. Children and adults will be assessed and allowed to participate in the clinical research projects if they can benefit from this program. Please go to our "Clinical Trials" tab to learn more about how you can participate in research!
More Info on Fragile X Syndrome
What causes Fragile X Syndrome?†
One gene shuts down: FXS is caused by a mutation in a single gene. In this case, a defect (full mutation) turns the gene off and it cannot manufacture the protein (FMR1) that it normally makes. This protein FMR1 is needed for normal brain development. In FXS, without the protein FMR1, the brain does not develop as it should.
Fragile X is inherited: A mother who carries Fragile X is 50% likely to pass the mutated gene to her children, who will either be carriers or be diagnosed with Fragile X Syndrome. A father who is a carrier will pass it to all of their daughters and none of their sons. Fragile X can be passed silently through the generations before a child is born with the syndrome.
FXS can effect both sexes. Females generally have milder symptoms than males, although there is a lot of variation and no good way to predict this.
Symptoms of Fragile X Syndrome†
What are the physical characteristics of Fragile X Syndrome?†
These characteristics may be hard to recognize in babies and young children, but sometimes becomes more apparent with age. Not everyone with FXS has these signs.
How is Fragile X Syndrome diagnosed?†
Direct DNA testing, ordered by any doctor, will determine whether there is a mutation in the X chromosome. This testing is generally covered by a heath care plan, and requires a blood sample.
†As described on www.fraxa.org
One gene shuts down: FXS is caused by a mutation in a single gene. In this case, a defect (full mutation) turns the gene off and it cannot manufacture the protein (FMR1) that it normally makes. This protein FMR1 is needed for normal brain development. In FXS, without the protein FMR1, the brain does not develop as it should.
Fragile X is inherited: A mother who carries Fragile X is 50% likely to pass the mutated gene to her children, who will either be carriers or be diagnosed with Fragile X Syndrome. A father who is a carrier will pass it to all of their daughters and none of their sons. Fragile X can be passed silently through the generations before a child is born with the syndrome.
FXS can effect both sexes. Females generally have milder symptoms than males, although there is a lot of variation and no good way to predict this.
Symptoms of Fragile X Syndrome†
- Intellectual disabilities, ranging from mild to severe.
- Attention deficit and hyperactivity, especially in young children
- Anxiety and unstable mood
- Autistic behaviours, such as hand-flapping and avoiding eye contact
- Sensory integration problems, such as hypersensitivity to loud noises or bright lights
- Speech delay, with expressive language more severely affected than receptive language.
- Seizures (epilepsy) affect 10-20% of people with FXS
What are the physical characteristics of Fragile X Syndrome?†
These characteristics may be hard to recognize in babies and young children, but sometimes becomes more apparent with age. Not everyone with FXS has these signs.
- Long face, prominent ears, flat feet
- Hyperextensible joints, especially fingers
- Low muscle tone
- Males may have large testes after puberty
How is Fragile X Syndrome diagnosed?†
Direct DNA testing, ordered by any doctor, will determine whether there is a mutation in the X chromosome. This testing is generally covered by a heath care plan, and requires a blood sample.
†As described on www.fraxa.org
Click on one the links below to be connected to more resources on Fragile X!*
*Please note: Our office/research team does not manage or control the content of the above-mentioned websites. They are meant to be used as a resource and should be accessed at your discretion. As some of the above are linked to Facebook Groups, our office/research team is additionally not responsible for the opinions, comments, or pictures posted therein.