Fragile X Syndrome

If you are a parent whose child has been diagnosed with this Fragile X Syndrome, you are not alone. Studies show that 1 in 2,500 females and 1 in 1,500 males have Fragile X Syndrome. Also known as Martin-bell syndrome, inherited mental retardation, and Escalante's syndrome (known by the term in Brazil and South American countries), Fragile X Syndrome is an inherited form of mental retardation, due to a deficit of protein production in the X chromosome (a unit of heredity), thus causing fragility of the gene. Quite frequently, you might find yourself overwhelmed by the pressure of taking care of your child, as well as the pain of seeing a beloved child suffer. However, it is not the end of the world. There are many others like you who have studied and understood this condition, and this has helped them to be able to handle their child’s special needs more effectively. Explore the following pointers given below to know more.

Symptoms And Causes Of Fragile X Syndrome

Causes Of Fragile X Syndrome

Men have XY chromosomes and women have XX chromosomes, which are derived half from their mother and half from their father. Males suffer from serious defects if this chromosome is affected, since the only X chromosome that they have is malfunctional. However, females either escape defects or suffer mild retardation, since there is still one properly functional X chromosome.

Symptoms Of Fragile X Syndrome

Physical Symptoms

In Infancy – Slightly larger head or broader forehead, velvety, soft skin.
At Puberty – More noticeable ears, longer jaw or face, stunted growth, loose and extendable joints, flat feet, weak connective tissue, enlarged testicles (in males).
In Adulthood – Mitral Valve Prolapse, problems with walking, hand tremors.

Emotional And Social Symptoms

Extreme social anxiety, one can get easily upset or overwhelmed.
Reactions include repetitive actions, tantrums, rolling back and forth, extreme rigidity, self-inflicted wounds like bites.
Extreme outbursts in adolescents due to hormonal changes. Higher levels of anxiety and lower ability to calm down.

Sensory Symptoms

In Infancy – Problems drinking from a bottle since the nipple causes them discomfort.
In Childhood – Easily overwhelmed with a touch, hug or tickle. Extra sensitivity to loud noises or sounds.
In Adulthood – Lack of a sense of balance and coordination. Inability to stand, sit, walk or ride a bike due to problems with connective tissue.

Language and Speech Symptoms

Problems range from mild stuttering to problems with basic language skills. Some children are unable to speak throughout their lives.
Inability to coordinate vocal processes, movements, and structures. Difficulty in understanding spoken directions, and creating proper responses.
Experience social and/or sensory overload due to inability to understand body language, facial expressions, and tone of voice.
Females are less symptomatic, and have better language skills, but are hindered by social anxiety and shyness.

Treatment Of Fragile X Syndrome

There is presently no specific drug to treat Fragile X Syndrome. However, there are some drugs that are used to reduce symptoms such as mood instability, seizures, aggression, hyper-arousal, attention deficiency, obsessive-compulsive disorder, intermittent explosive disorder. Most often, medication works best with therapy. Therapeutic aids would involve working along with occupational therapists, speech-language therapists, behavioral therapists, and physical therapists.

Education

Special Education is available for children with special needs. In the event of a child receiving special education, the child’s parents, school psychologist, teachers, caregivers, and specialists will work as one in order to draw up an education plan focused on the child. A child should be evaluated periodically in order to determine whether there are any changes required to the education plan.

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