FRAGILE X SYNDROME COMMON SYMPTOMS
Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of speech and language by age 2.
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What is the life expectancy of fragile X syndrome?
Life expectancy for people with fragile X syndrome is generally normal. Many affected people participate in an active lifestyle and have good health. Some people are more prone to a number of medical problems, such as ear infections and/or seizures.

How serious is fragile X syndrome?
Fragile X syndrome is the leading cause of inherited intellectual disabilities like autism. There are behavioral, physical, intellectual and mental health symptoms. Females have milder symptoms than males. FXS is not life-threatening and although there is no cure, medication and therapy can help manage the symptoms.

How is fragile X syndrome caused?
Fragile X syndrome is caused by a change to a gene on the X-chromosome called the FMR1 gene. This gene produces a protein that helps the brain to function normally. If this gene is changed or altered in any way, it cannot produce its normal protein, which can result in Fragile X syndrome.
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Fragile X syndrome is a leading genetic cause of autism. About one in three people with the syndrome also has autism. But even those who do not have autism often share certain autistic traits, such as avoidance of eye contact and difficulties in social situations.

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How do healthcare providers diagnose Fragile X syndrome?
Healthcare providers often use a blood sample to diagnose Fragile X. The healthcare provider will take a sample of blood and will send it to a laboratory, which will determine what form of the FMR1 gene is present.1

Prenatal Testing (During Pregnancy)
Pregnant women who have an FMR1 premutation or full mutation may pass that mutated gene on to their children. A prenatal test allows healthcare providers to detect the mutated gene in the developing fetus. This important information helps families and providers to prepare for Fragile X syndrome and to intervene as early as possible.

Possible types of prenatal tests include:

Amniocentesis. A healthcare provider takes a sample of amniotic fluid, which is then tested for the FMR1 mutation.
Chorionic villus sampling. A healthcare provider takes a sample of cells from the placenta, which is then tested for the FMR1 mutation.

Treatments

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There is no cure for FXS. However, treatment services can help people learn important skills. Services can include therapy to learn to talk, walk, and interact with others. In addition, medicine can be used to help control some issues, such as behavior problems. To develop the best treatment plan, people with FXS, parents, and health care providers should work closely with one another, and with everyone involved in treatment and support—which may include teachers, childcare providers, coaches, therapists, and other family members. Taking advantage of all the resources available will help guide success.

Early Intervention Services
Early intervention services help children from birth to 3 years old (36 months) learn important skills. These services may improve a child’s development. Even if the child has not been diagnosed with FXS, they may be eligible for services. These services are provided through an early intervention system in each state. Through this system, you can ask for an evaluation. In addition, treatment for particular symptoms, such as speech therapy for language delays, often does not need to wait for a formal diagnosis. While early intervention is extremely important, treatment services at any age can be helpful.

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