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General practitioners are now being advised to conduct more comprehensive tests for a genetic disorder, often misdiagnosed as autism, which can cause individuals to suffer from learning disabilities.
A relatively rare disorder, fragile X syndrome impacts approximately one in 4,000 males and one in 6,000 females and is attributed to a genetic alteration that compromises brain development.
Only a minority of individuals with this genetic mutation will actually develop the disorder. Approximately one in 250 women and one in 600 men will inherit the mutated gene.
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Experts warn that the issue is commonly neglected by healthcare professionals, stating that this trend must be reversed immediately.
Pete Richardson, managing director of the Fragile X Society, stated: ‘Given its prevalence as the most common inherited cause of learning disability, there is a striking lack of public awareness about Fragile X syndrome.
Not everyone who carries the Fragile X pre-mutation shows any symptoms and therefore may not be aware that they have it.
It is often overlooked as a potential cause when a woman displaying premature menopause symptoms is diagnosed by doctors.
An urgent transformation is required immediately.
The Society is advising individuals who suspect they may be carriers of the gene to contact their General Practitioner, who can arrange for a Fragile X (FMR1) DNA test.
Blood samples are collected at the local site, after which they’re sent to a genetics centre for testing.
At present, there is no recommendation from the Government for screening during pregnancy in cases where the condition is not expected to produce symptoms in babies that test positive.
Fragile X syndrome is caused by a gene mutation on the X chromosome that impairs the production of a critical protein essential for brain development.
Research conducted by the Society indicates that a family history of Fragile X syndrome, or intellectual disabilities, developmental delays, or autism of unknown origin, significantly increases the likelihood of an individual being a carrier of the condition.
It is estimated that women with ovarian insufficiency may have a 15-per-cent probability of being a Fragile X carrier.
Alex McQuade, a 41-year old mother, grew increasingly worried when her son began to fail to attain typical developmental milestones at the expected ages.
She stated, “There was never any discussion about genetics, even though Chris and I had informed the doctors that I had a female cousin whose son I believed had autism.”
The couple, from Groby, Leicestershire, initially believed that the problems faced by their 10-year-old son, Evan, were occasional.
The couple’s younger child, Xander, who is now seven years old, also experienced similar difficulties.
Mrs. McQuade expressed, “I started conducting my own research online. I understood that it shares similarities with autism, but then recognised it didn’t align perfectly with autism.”
Upon delving further into various conditions, I quickly came across Fragile X syndrome. Upon perusing its physical manifestations, there was no ambiguity in my understanding that the boys exhibited several of these characteristics.
Fragile X syndrome is associated with a range of physical, mental and behavioural manifestations, including mild to severe intellectual disability.
Some females with this condition may seem less severely affected because they often have two X chromosomes, with typically only one carrying the Fragile X mutation, according to Mr Richardson.
Some females seem to be unaffected, while others experience mild cognitive impairments and some have more pronounced learning disabilities.
People with autism possess brains that function distinctively from those who do not have the condition.
It is a condition that individuals are born with, but may not be diagnosed until later in their lives, often during childhood or even adulthood.
Autism presents a wide range of abilities and needs, where individuals may require varying levels of support. While some people with autism can lead independent and fulfilling lives, others require ongoing assistance to navigate everyday challenges.
Characteristics often associated with autism include difficulties with language and social interactions, feelings of sensory overload in various situations, and a tendency to perform repetitive actions.
Diagnoses have been escalating in recent years, prompting concerns that the condition is perhaps being overdiagnosed.
Researchers in the UK have found that some children are waiting anywhere from 2 to 4 years on average for an autism diagnosis.
It is estimated that approximately 700,000 British citizens and 5.4 million adults in the United States have an autism diagnosis.
A 2021 study conducted by Newcastle University estimated that close to 1 in 57 UK children (approximately 1.76 percent) are on the autism spectrum.
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