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Fragile X syndrome is a genetic disorder that affects intellectual and developmental functioning. Let me provide you with some key information:

Cause and Genetics:
Fragile X syndrome is caused by a mutation in the FMR1 gene located on the X chromosome.
The mutation leads to a reduced production of a protein called FMRP (Fragile X Mental Retardation Protein).
Individuals with Fragile X syndrome have an expanded CGG repeat in the FMR1 gene, which disrupts normal protein synthesis.
Symptoms:
Intellectual Disability: Most individuals with Fragile X syndrome have varying degrees of intellectual disability.
Behavioral Challenges: These may include social anxiety, repetitive behaviors, and hyperactivity.
Physical Features: Some common features include a long face, large ears, and a prominent jaw.
Sensory Sensitivities: Individuals may be sensitive to light, sound, or touch.
Speech and Language Delays: Many children with Fragile X syndrome experience delays in speech and language development.
Severity:
The severity of Fragile X syndrome can vary widely. Some individuals have mild symptoms, while others may have more significant challenges.
Full mutation: Individuals with a full mutation (more than 200 CGG repeats) typically exhibit more severe symptoms.
Premutation: Some carriers of the premutation (55-200 CGG repeats) may not show noticeable symptoms but are at risk of having affected children.
Diagnosis:
Diagnosis is usually based on genetic testing to detect the FMR1 gene mutation.
Behavioral and developmental assessments also play a role in diagnosis.
Treatment and Support:
There is no cure for Fragile X syndrome, but early intervention and supportive therapies can improve outcomes.
Behavioral therapies, speech therapy, and occupational therapy are commonly used.
Medications may be prescribed to manage specific symptoms.
Research and Awareness:
Ongoing research aims to better understand Fragile X syndrome and develop targeted treatments.
Raising awareness helps promote understanding and support for affected individuals and their families.
Remember that each person with Fragile X syndrome is unique, and their needs and abilities can vary.

FXS (Fragile X Syndrome)

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