Unveiling the Overlooked Reason Behind Learning Disabilities Frequently Confused with Autism – International Edition (English)

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Today, doctors were encouraged to expand screening efforts for an untreatable genetic disorder frequently confused with autism, which may lead to intellectual impairments.

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

Not all individuals carrying the mutation will develop the condition. Approximately one in every 250 women and one in every 600 men carry the defective gene.

However, carriers are more susceptible to earlier onset issues. menopause .

However, this condition is frequently disregarded by medical professionals, as experts have cautioned that such neglect "must be addressed immediately."

Pete Richardson, who leads the Fragile X Society, stated: "Being the foremost hereditary factor for learning disabilities, there is an unexpectedly low level of recognition concerning Fragile X syndrome."

People carrying the Fragile X pre-mutation typically remain unaware of their condition.

'When a woman shows signs of premature menopause, being a Fragile X carrier is often the last thing that doctors will investigate.

We require this to shift. 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 will still undergo testing 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 exhibit 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 family has a history of Fragile X syndrome—or of an intellectual disability, developmental delay, or autism with an undetermined origin.

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 wasn't any discussion regarding genetics at any time, even though both my husband Chris and I informed the doctors about my female cousin who has a son that I believed might have 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 fully encompass the condition."

It didn’t take long for me to stumble upon Fragile X syndrome. Once I saw the list of physical symptoms, I was certain that the boys were affected.

Fragile X syndrome presents with a range of physical, mental, and behavioral symptoms, which can include mild to severe cognitive impairments.

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

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

Being autistic implies that an individual’s brain functions differ 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 spectrum. While some individuals can manage their daily lives without extra support, others might require constant assistance.

Common indicators of autism encompass difficulties with communication, feeling overpowered by specific scenarios, and exhibiting repetitive behaviors.

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

In April, it came to light that children throughout the UK face waits of up to four years for an autism diagnosis.

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

A study conducted by Newcastle University in 2021 found that approximately one out of every 57 children (or 1.76 percent) in the United Kingdom falls within the autism spectrum.

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