A permanent change in the sequence of the genome is called a mutation. Mutation of specific genes often leads to the offspring being predisposed to developing certain genetic conditions, as a result of which they might have clinical issues like trembling hands, unstable mood changes, loss of memory, cognitive problems, and numbness in the hands and feet.
Fragile X syndrome—also known as Martin−Bell syndrome or marker X syndrome, is a genetic disorder that occurs due to gene mutation in individuals. After trisomy 21, it is the most frequently genetically inherited cause of mental retardation, intellectual impairment, and autism.
Inherited intellectual disorders like autism are most commonly caused by fragile X syndrome, which manifests in physical, mental, intellectual, and behavioral symptoms. Compared to men, women have milder symptoms. Although no known cure for fragile X syndrome exists, medicines and treatments can help control the symptoms. However, the condition is not life−threatening. When seen under a microscope, a portion of the X chromosome appears "broken" or "fragile," which is why the condition is known as fragile X syndrome. A member of the fragile X family of disorders, fragile X syndrome is one of three. Two more syndromes include −
Balance issues, trembling hands, erratic moods, memory loss, cognitive issues, and numbness in the hands and feet are some symptoms.
Fragile X−associated primary ovarian insufficiency (FXPOI)
The common symptoms include reduced fertility, infertility, irregular or skipped menstrual cycles, and early menopause.
Fragile X syndrome is inherited from one parent to the child. Fragile X syndrome is caused by a mutation in a gene called "FMR1" that results from an expansion of a DNA region known as the "CGG triplet repeat." In healthy individuals, a component repeats five to forty times; however, in those with fragile X syndrome, it repeats more than 200 times. The FMR1 gene, which disrupts the neurological system and results in the symptoms of fragile X syndrome, is "silenced."
The fragile X mutation may be divided into four types. The amount of CGG repeats in the DNA is what determines them −
Normal
Zone of grey
Permutation carrier
Full mutation
Not every person with a mutant FMR1 gene exhibits the signs and symptoms of fragile X syndrome. This is because some individuals, particularly females, can still produce FMRP protein, and fragile X Syndrome is less common among females.
The child's behavior, mental health, physical appearance, and IQ are all impacted by fragile X syndrome. Under each category, typical signs include −
Learning difficulties.
Lower than average intelligence (IQ). As they mature, their IQ scores decline.
Early developmental milestones are delayed. Milestones include social and emotional development, language and communication, cognition (thinking, learning, and problem−solving), and physical development.
Delayed onset of nonverbal communication skills, including facial expressions, body language, and gestures.
Arithmetic difficulties
Around the age of two, it is seen that the child has trouble with speech and language.
Mental health problems.
Depressive symptoms
Anxiety
Having obsessions and engaging in compulsive behaviors
Attention−deficit/hyperactivity disorder (ADHD).
Shyness and social anxiety.
Reduced or lack of eye contact
Sensitivity to crowds, touch, noises, tastes, and textures is a symptom of sensory disorders.
A challenge is recognizing "social cues."
Physical Features includes −
A broad forehead
A broad jaw
Supple skin
Crossed or droopy eyes and large ears.
Very flexible fingers or fingers with two joints.
Floppy feet
Enlarged testicles (in males, after puberty).
A high palate (the roof of the mouth).
Minimal muscular tone
Sometimes individuals diagnosed with fragile X syndrome also have other health conditions like epileptic seizures, sleep difficulties, self−harm behavior, increased BMI, or obesity and are often more aggressive and irritable.
Even though the disorder cannot be cured completely, the symptoms of fragile X syndrome can be effectively managed with drugs. However, a treatment that focuses on coping and behavioral skills should also be incorporated.
Although there is not a single cure for Fragile X syndrome, there are medications that can alleviate its symptoms. The best opportunity for people with Fragile X to use their unique strengths and skills is to obtain the right education, counseling, and medicine. Those with intellectual or developmental disabilities can master many self−help techniques.
Intervention at a young age is crucial. Early intervention offers children the best start, and the greatest possibility of developing a wide range of abilities since a young child's brain is still evolving. Youngsters with Fragile X syndrome have more opportunities to learn the earlier they receive therapy.
Fragile X syndrome sufferers can sometimes live on their own quite independently. According to surveys, 1 in 10 males and 4 out of 10 women with fragile X syndrome become very independent adults. The following skills are more prevalent in women than in men −
Reading books with fresh concepts and vocabulary.
Speaking in long phrases
Speaking normally
More women than males have Fragile X Syndrome and flourish. Women, especially 8 out of every 20 women and 1 out of every 20 males, do not require assistance with everyday tasks. Only 2 in 10 males with Fragile X Syndrome work full−time compared to almost half of women who are mostly able to continue having a stable career.
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