Fragile X Syndrome Definition
Fragile X syndrome is a genetic disorder that causes a child to experience delays in physical and mental development, learning and interacting disabilities, and behavioral disorders. This condition is chronic or can last for the rest of the child’s life. Fragile X syndrome is also known as Martin-Bell syndrome.
Infants and children with fragile X syndrome generally experience delays in speech and language development at the age of 24 months or 2 years.
Fragile X syndrome also makes children experience anxiety disorders and hyperactive behaviors, such as impulsive actions and feeling restless.
In fact, children with this syndrome may have attention deficit disorder (ADD) which makes it difficult to focus on certain tasks and activities.
Some children with fragile X syndrome have autism (autistic spectrum disorder) that affects speech or communication skills and social interactions.
Fragile X syndrome is a congenital genetic disorder that lasts a lifetime.
Fragile X Syndrome Causes
Fragile X syndrome is caused by a mutation of the FMR1 gene (Fragile X Mental Retardation 1) located on the X chromosome. The X chromosome is one of two types of se**x chromosomes, in addition to chromosome Y. Women have 2 X chromosomes, while men have 1 X chromosome and 1 Y chromosome, because the girls still have another normal X chromosome.
The cause of the mutation has not been known until now. The mutated FMR1 gene causes the body to be little or even unable to produce FMR proteins (FMRP) that are important to the brain. This protein is tasked with creating and maintaining interactions between brain cells and the nervous system in order to function properly. When the FMRP protein is not produced, signals from the brain will deviate, resulting in symptoms of Fragile X syndrome.
Fragile X Syndrome Symptoms
Some conditions of children with Fragile X Syndrome, sometimes do not show certain signs or symptoms, so it is quite difficult to detect them. But usually a baby’s head condition that is larger than normal size can be one of the signs of the occurrence of Fragile X Syndrome.
- Elongated and narrow face
- Has wide ears
- The forehead and chin look bigger
- Has flat soles
- Tes**ticles in boys enlarge after puberty.
Fragile X syndrome usually makes children have difficulty in the process of growth and development, learning ability and speech ability. Even girls with Fragile X Syndrome have difficulty getting pregnant and going through menopause early. Fragile X Syndrome can also cause other health problems, such as seizures, self-harm, vision impairment, hearing loss, dementia, and heart problems.
Fragile X Syndrome Diagnosis
There are several common ways for doctors to diagnose fragile X syndrome in children. Among them are:
- Physical examination by visually viewing the child’s condition
- Examination of cytogenetic analysis to identify chromosomes and genetic abnormalities in patients
- Prenatal examination with amniocentesis or chorionic villus sampling, i.e. taking maternal amniotic fluid to be examined in the laboratory as a determinant of the presence or absence of genetic abnormalities
- Examination with molecular techniques
- Examination with polymerase chain reaction (PCR).
Fragile X Syndrome Treatment
According to medical records, until now no cure has been found to completely address fragile X syndrome disorder. Because this condition is already related to chromosomes and genes. So it’s hard to heal.
Usually doctors only give certain medications to relieve symptoms and reduce the risk. For example, anti-depressant drugs (selective serotonin reuptake inhibitors (SSRIs) to overcome the feelings that are irritable, quickly anxious and excited. In addition, there are also stimulant drugs to overcome hyperactive attitudes, antibiotic drugs, anticonvulsants (controlling seizures), drugs containing lithium, as well as the mGluR5 (glutamate metabotropic receptors) drug to relieve the symptoms of fragile X syndrome.
In addition to medical treatment, patients are also advised to follow therapies to train their organ and mental functions. Such as occupational therapy, speech, attitude and behavior therapy, and also providing education to children who are worthy and appropriate.
Source:
- Image: Peter Saxon, CC BY-SA 4.0 https://creativecommons.org/licenses/by-sa/4.0, via Wikimedia Commons.
- Video: Centers for Disease Control and Prevention (CDC)
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