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  Typical signs of child behavior that might indicate whether a girl has autism
  

Today, doctors were encouraged to expand screening efforts for an untreatable genetic disorder frequently misidentified as autism, which can lead to intellectual disabilities.

Fragile X syndrome, which occurs approximately once every 4,000 males and once every 6,000 females, is triggered by a genetic mutation that interferes with brain development.

It’s not guaranteed that every individual with the mutation will develop the condition. Approximately one out of 250 females and one out of 600 males carry the defective gene.

However, carriers are more susceptible to experiencing earlier symptoms.
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However, this condition is frequently ignored by medical professionals, as experts have cautioned that such neglect “must change immediately.”

Pete Richardson, who leads the Fragile X Society, stated: “Given that it is the leading genetic reason for intellectual disabilities, there is an unexpectedly low level of recognition regarding Fragile X syndrome.”

Individuals carrying the Fragile X premutation frequently remain unaware that they have this condition.

When a woman exhibits symptoms of early menopause, being identified as a Fragile X carrier is usually one of the final possibilities that physicians consider.

We require this transformation immediately.

The organization is encouraging individuals who believe they might possess the gene to reach out to their primary care provider, who can administer a Fragile X (FMR1) DNA test.

Although blood samples might be collected on-site, they are subsequently analyzed at a genetic center.

At present, the Government does not advocate screening for this condition during pregnancy because certain infants who test positive may never experience symptoms.

Fragile X syndrome arises due to changes in a gene located on the X chromosome, interfering with the creation of a crucial protein required for proper brain development.

The organization states that individuals are more prone to being carriers if their families have a history of Fragile X syndrome—or of an intellectual disability, developmental delay, or autism with unspecified origins.

Women who experience ovarian insufficiency are thought to have approximately a 15 percent probability of being carriers of Fragile X syndrome.

When Alex McQuade, a 41-year-old mother, noticed that her son wasn’t reaching his anticipated developmental milestones, she grew worried.

She stated: “There never was any discussion about genetics, even though both my husband Chris and I informed the doctors that I have a female cousin whose child I believed has autism.”

The pair from Groby, Leicestershire, believed that the problems encountered by their child, Evan, who is currently 10 years old, were an isolated incident.

Nevertheless, their second child, Xander, who is now seven years old, faced comparable issues.

Mrs. McQuade stated, “I started conducting my own investigation online. I realized it resembled autism, yet autism did not entirely match the situation.”

It didn’t take long for me to stumble upon Fragile X syndrome. Upon seeing the list of associated physical symptoms, I had no doubt that the boys were affected by it.

Fragile X syndrome presents with a range of physical, cognitive, and behavioral symptoms, which can include anything from slight to profound intellectual disabilities.

Nevertheless, certain females with the condition might seem less impacted because they possess two X chromosomes, and typically only one of these is influenced by Fragile X, as Mr. Richardson explained.

Some women seem unbothered, while others experience a slight cognitive impairment, and some face a more significant intellectual challenge.

Being autistic entails having a brain that functions differently from what is considered typical.

It isn’t an illness; individuals possess it since birth, though it might remain unnoticed until childhood or even much later in life.

Autism spans a continuum of conditions. Certain individuals can manage their daily activities without extra support. However, some might require constant aid and care.

Common indicators of autism encompass difficulties with communication, feeling overpowered by specific scenarios, and engaging in repetitive actions.

In recent years, rates have skyrocketed, leading to claims that the condition is currently being diagnosed excessively.

It was disclosed in April that children throughout the UK face waits lasting up to four years for an autism diagnosis.

Approximately 700,000 people in Britain and 5.4 million adults in the United States have received an autism diagnosis.

Based on a 2021 study from Newcastle University, approximately one out of every 57 (or 1.76 percent) children in the United Kingdom falls within the autism spectrum.

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