The term “infp autism” refers to autism in a person with fragile X syndrome. It is a rare form of autism that can be caused by a mutation in the FMR1 gene. The FMR1 gene is responsible for making a protein called fragile X protein. People with fragile X syndrome often have autism, but not always.
This genetic condition affects the brain and spinal cord. It can cause a range of symptoms, including:
- Intellectual disability
- Delayed development
- Hearing problems
Causes of autism in the FMR1 gene
The FMR1 gene is located on the X chromosome. Women have two X chromosomes, one from each parent. Women who have children with fragile X syndrome may pass the condition on to their sons.
The FMR1 gene is crucial to making a protein called fragile X protein. This protein is important for brain development. It affects how the brain develops and how it functions. When the fragile X gene is not working correctly, it can cause mental health problems.
People with fragile X syndrome may have autism, but not always. People with autism are often very verbal and talk a lot. They may also have a hard time understanding social cues.
FMR1 gene mutations
The FMR1 gene has two parts: the first part is on the X chromosome and the second part is on the Y chromosome.
FMR1 gene mutations are responsible for 80 to 95 percent of fragile X syndrome cases. Many people with fragile X syndrome have a mutation in the fragile X gene.
Most people with a fragile X mutation do not have autism. They may have other developmental problems, such as intellectual disability or delayed development.
FMR1 gene mutations can affect the brain, spine, and other areas of the body. For example, the FMR1 mutation can cause a rare condition called the Angelman syndrome.
People with the FMR1 gene mutation may have other symptoms, such as:
- Speech delay
- Mental retardation
- Delayed speech and language development
This gene mutation can also cause a syndrome called Klinefelter syndrome. It causes some people to have an extra X chromosome, which is called an XYY karyotype. This can cause:
Klinefelter syndrome: Extra X chromosomes can cause problems with several parts of the body, including the brain. People with karyotype XXXY have a higher risk of autism.
Diagnosing fragile X syndrome
If your doctor suspects you have fragile X syndrome, they may ask you questions to determine if you have the condition. They might ask you about your family’s medical history, your symptoms, and your symptoms now.
Your doctor may also ask you to complete a developmental screening test. The test will look for developmental delays and intellectual disability.
Tests your doctor may use to diagnose fragile X syndrome include:
- Medical history and physical exam. They may ask questions about your family’s medical history and symptoms. They may also perform a physical exam.
- Intellectual disability screening test. This test looks for intellectual disability and developmental delays.
- Speech and language screening test. This test looks for autism symptoms.
- Developmental screening test. This test looks for delayed development, intellectual disability, and autism.
Treatment for autism in the FMR1 gene
If you have fragile X syndrome, your doctor may recommend that you take certain medications. These medications can help treat the symptoms of autism in people with fragile X syndrome. They may include:
- A mood stabilizer, such as lithium
- Anticonvulsants, such as valproic acid and lamotrigine
- Antidepressants, such as fluoxetine (Prozac) and sertraline (Zoloft)
Talk to your doctor before you start these medications. If you take any medications, stop taking them at least one week before you start taking a new medication for autism.
If you have fragile X syndrome, you may also take other medications, which can improve symptoms. These may include:
- Vitamin B12
- Vitamin C
- Anticonvulsants, such as phenobarbital, phenytoin, and valproic acid
- Antipsychotics, such as haloperidol
If you have fragile X syndrome, your doctor may recommend that you take certain supplements. These supplements may help treat symptoms. They include:
- Vitamin D
- Vitamin E
These supplements can improve mental health and cognitive functions.
Your doctor may also recommend that you take supplements to help with other symptoms. These may include:
- Antifungal medicine
These supplements can improve seizures.
If you need to take any of these supplements, talk to your doctor before you start taking them. They may have side effects.
If you’re pregnant, plan to have the child tested for fragile X syndrome. Early diagnosis and treatment can help improve the child’s health.
Outlook for fragile X syndrome in the FMR1 gene
In most people with fragile X syndrome, the symptoms don’t become severe. However, some people may develop intellectual disability, and other symptoms.
People with fragile X syndrome often have autism. However, they may not always have autism. If a child with fragile X syndrome has autism, their symptoms may improve with treatment.
How to manage autism in the FMR1 gene?
If you need treatment, your doctor can help you find the right treatment. They can also help you learn how to manage your symptoms.
Some people, such as those with autism, may not respond well to certain medications. If you’re not sure whether a medication will work for you, talk to your doctor. They can help you figure out what to do next.
Sometimes, medications can cause side effects. Your doctor can help you learn about the possible side effects of the medications you take.
Your doctor can also help you build a treatment plan. This includes:
- Identifying treatments and coping strategies for any symptoms you’re having.
- Learning about the possible side effects of different treatments.
- Finding the right treatment for you.
- Helping you to make lifestyle changes.
- Helping you to understand your treatment plan.
- Helping you to understand your doctor’s plan.
If you or a loved one has autism, talking to your doctor can help you find the best treatment plan. The treatment plan includes medications and other therapies.
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