Fragile X Syndrome is a genetic disorder that affects the cognitive and behavioral development of those who suffer from it. Also known as Martin-Bell Syndrome, it is the most common inherited cause of intellectual disability and autism spectrum disorders. Discovered in 1969 by doctor Juegos Purcell and his team, Fragile of Fragile X Syndrome
Fragile CGG (cytosine-guanine-guanine) ranging between 5 and 44 times. However, in people with Fragile the protein FMRP (Mental Retardation Protein 1), whose normal function is to regulate protein synthesis in neuronal synapses. The absence or deficiency of FMRP in individuals with Fragile
Fragile X Syndrome follows an X-linked pattern of inheritance. Since women have two FMRP. Therefore, female carriers generally show milder symptoms or may be asymptomatic, although they have a 50% risk of passing the mutation to their children.
In contrast, males have a single X chromosome and a Y chromosome, so if they inherit the FMR1 gene mutation, they will develop Fragile X Syndrome. Males affected by the disorder experience more severe intellectual disability than female carriers, although the severity of symptoms can vary widely from one individual to another.
Symptoms of Fragile X Syndrome
The symptoms of Fragile X Syndrome cover a wide range of clinical manifestations that can affect both the physical development and behavior of the person. Although not all people with the mutation in the FMR1 gene present the same symptoms or to the same extent, there are common characteristics that are usually present in those who suffer from this disorder.
Physical characteristics
Some of the physical characteristics associated with Fragile These physical manifestations can help identify the syndrome, but they are not exclusive or determining in themselves.
Intellectual disability
Intellectual disability is one of the main characteristics of Fragile X Syndrome . Affected people usually have a below-average intelligence quotient (IQ), with difficulties in areas such as memory, learning, attention and problem solving. Intellectual disability can range from mild to moderate or severe, influenced by genetic and environmental factors.
Behavioral disorders
In addition to intellectual disability, people with Fragile present a series of behavioral disorders that can include hyperactivity, impulsivity, anxiety, attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and difficulties in social interaction and communication.
Diagnosis of Fragile X Syndrome
The diagnosis of Fragile X Syndrome is based on genetic tests that identify the mutation in the FMR1 gene. These tests are usually performed through a blood test, which looks for the presence of more than 200 repeats of the CGG sequence. Importantly, early diagnosis of Fragile and psychological to identify the characteristic physical and behavioral symptoms of the disorder. A multidisciplinary approach involving pediatricians, geneticists, psychologists and other health professionals is crucial for accurate diagnosis and effective intervention.
Treatment of Fragile X Syndrome
Currently, There is no curative treatment for Fragile X Syndrome due to its genetic nature. However, a variety of therapeutic and educational approaches can be implemented to address symptoms and improve the quality of life of people with this disorder. Treatment of Fragile Early stimulation is essential to promote the cognitive, physical and emotional development of children with Fragile X Syndrome. Early intervention programs that include occupational therapy, speech therapy, and physical therapy can help enhance skills and minimize difficulties associated with the disorder.
Specialized education
Specialized education is key to adapt the learning process to the individual needs of people with Fragile X Syndrome. Educational programs focused on multisensory learning, environmental structuring, curricular adaptations, and emotional support are essential to foster the academic and social development of students with this disorder.
Behavioral and pharmacological therapy
Behavioral therapy, such as speech therapy, occupational therapy, and cognitive behavioral therapy, can help address behavioral problems and communication difficulties associated with Fragile X Syndrome. In some cases, the use of psychotropic medications, such as ADHD stimulants or antidepressants, may be recommended to control certain symptoms.
Emotional support for the family
Fragile X Syndrome It can have a significant impact on family life, both emotionally and financially. Therefore, it is essential that families of people with this disorder receive emotional support, advice and guidance on how to manage everyday challenges and access community resources that facilitate the care and inclusion of their loved ones.
In summary, Fragile X Syndrome is a genetic disorder that affects the cognitive and behavioral development of those who suffer from it due to a mutation in the FMR1 gene. Although there is no cure, a multidisciplinary approach that combines therapeutic and educational interventions can improve the quality of life of people with this disorder and provide support to their families in the process of care and inclusion. Early diagnosis and specialized care are key to guaranteeing the well-being and comprehensive development of those living with Fragile X Syndrome.