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Medical condition/treatment
Fragile X syndrome
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Hole body
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Fragile X syndrome is a genetic disorder that causes intellectual impairments, behavioral problems and distinctive physical characteristics. It is caused by a mutation in the FMR1 gene and affects boys more often than girls.
Causes/Description:
Fragile X syndrome is a genetic disorder caused by a change in the FMR1 gene on the X chromosome. The exact cause of this genetic change is unknown, but genetics plays a role. Other factors may include environmental factors and neural wiring disorders.
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Physiotherapie, Ergotherapie, Logopädie, Frühintervention, Entwicklungsförderung, Verhaltensmanagement, Genetische Beratung, Familienberatung, Psychosoziale Unterstützung, Sprachtherapie
50 min
260 Swiss francs
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Fragile X syndrome is caused by mutations in the FMR1 gene on the X chromosome. These mutations cause the gene to not produce the fragile X syndrome protein (FMRP) properly, leading to the symptoms of the disorder.
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- Behavioral intervention and specialist therapies - Speech and communication therapy - Supported employment and life skills - Family support through training and advice
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Fragile X syndrome was first described in 1969 by J. P. Martin and J. Bell. It is a genetic disorder caused by an elongated repeat of a DNA segment on the X chromosome. The main features include intellectual disability, behavioral problems and physical characteristics. Advances in genetics have led to a better understanding of the causes and treatment options.
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