Fragile X Syndrome : The Most Inherited Form Of Mental Retardation

Most infants identified with FAS are microcephalic, hyperactive, and mentally retarded by age four to ten. This persistence of brain dysfunction is what causes the highest human and economic toll (2).

Fragile X Syndrome was identified in the year 1991. This disability affects more males than females. Approximately 1 in 4,000 males are affected, however only 1 in 8,000 females are affected (Lombroso, 2003). Fragile X generates in the FMR1 gene. Fragile X is caused by an excessively repeating tri-nucleotide,

Research indicates that FXS is prevalent in one in every 4,000 people (Reiss & Hall, 2007). If parents or doctors suspect FXS, genetic tests can confirm the diagnosis (Sherman et al., 2005). There is not an established medication to treat FXS; however, some medications may lower comorbid symptoms (Reiss & Hall, 2007). Individuals with FXS generally have comorbid conditions; for example, they may have attention problems, intellectual disabilities, or autism spectrum disorder (Bailey et al., 2008). Therefore, education interventions may be aimed at treated the associated factors (Hall et al.,

The most common form of inherited mental retardation (MR) is Fragile X syndrome. The mutation of the gene completely turns off and does not produce the protein needed to make certain all other genes function properly. It is linked to other disorders. There are many characteristics connected to Fragile X. For example, neurological, physical, and psychiatric. The cognitive and behavioral attributes are more significant since they affect how the child will learn and function. Fragile X children are oversensitive to noise and the activity going on nearby. They will often throw tantrums and be aggressive (Braden, M., n.d.). Although, this syndrome does not have a cure these children may be helped with early intervention. Methods of

People who are carriers of the Fragile X gene often have high levels of anxiety. Women who are carriers may experience primary ovarian insufficiency, which is a loss of normal function in your ovaries which means they don’t release eggs regularly, which causes early menopause. Men and women who are carriers can also develop Fragile X tremor ataxia syndrome (FXTAS), the breaking down of the brain. Men are more likely to develop FXTAS than women. FXTAS usually occurs at the age of 50. It can affect balance and memory, and cause tremors and other neurological problems. A person may be fully affected by Fragile X but not show all of these signs. Here are all of the symptoms under their given

Genetic disorder has many diagnostic and common names for example, DMD is also known as Duchenne muscular dystrophy or Becker and pseudohypertrophic muscular dystrophy. DMD is a genetic disease that occurs mostly in boys. According to the “Muscular Dystrophy Association DMD is inherited in an X-linked pattern, because the gene that can carry a DMD-causing mutation is on the X chromosome. The male host inherits an X chromosome from his mother and a Y chromosome from his father, which is what makes him male. The female host inherits two X chromosomes, one from each parent.” (MDM). “The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region, involving the steroid sulfatase gene cause X-linked ichthyosis; rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies (DMD or BMD); and the Xq27.3 unstable region, containing the (CGG) in repeat expansion in the FMR1 gene is associated with fragile X syndrome stated in the article, “A Family with Fragile X Syndrome, Duchenne Muscular Dystrophy and Ichthyosis Transmitted By An Asymptomatic Carrier”(Todorova, A)

Fragile X syndrome (FXS), often referred to as Martin-Bell syndrome, is an inherited genetic condition, associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism, especially in boys. In addition to intellectual disability, there are distinguishing physical features as well, including elongated face, protruding ears and low muscle tone

Fragile X syndrome is among the common inherited cause of intellectual disability and single cause of autism. This is caused by the lengthening of the X chromosome and although both male and female can be affected, males are more prone to be affected than females – with the ratio of 1/4000:1/8000 (1). This is because males have only one X chromosome, while female has two. Females can be a carrier of this gene defect but their other X chromosome would still be able to make the protein, whereas male, only possessing one X chromosome would be more affected. Symptoms of this mutation includes behavioral and learning disabilities, autism disorder, elongated and narrow face (macrocephaly), macroorchidism

The prevalence figure of 1:1,000 males for fragile X syndrome is an overestimate in a mixed population. Beaumont Children's Hospital provides a support group for families who have Fragile X Syndrome. As well as MD junction, and Daily Strength help kids in need for this disorder by training. Future therapies and current research have also decided to help others with this disability. Some future therapies can include epigenetic therapies, brain therapy, and behavioral therapy for anyone who contains Fragile X. There is currently no drug treatment that has shown benefit specifically for fragile X syndrome. However, medications are commonly used to treat symptoms of attention deficit and hyperactivity, anxiety, and

According to the World Health Organization, a disability is “any restriction or lack (resulting from any impairment) of ability to perform an activity in the manner or within the range considered normal for a human being” (WHO). Although one may have a disability, they should not be stopped or told they cannot do something due to their disability. Fragile X syndrome (FXS) is one of the most common learning disabilities that cause social and behavioral problems (Dew-Hughes, 2003). Every child deserves the same opportunities and experiences, which is why students who have Fragile X syndrome or any other disability should be included in the Physical Education. When including and working with a child who has FXS one should be aware of the history

Fragile X Syndrome is a genetic disorder in a individual genes. It can causes mental retardation.

Fragile X syndrome, also called Martin- Bell syndrome or Marker X syndrome is an incurable genetic condition characterized by inherited mental retardation, intellectual disability and learning disabilities. This is considered the second most common cause of genetically associated mental deficiencies, after trisomy 21. A notable feature of this disorder is that the penetrance shows an increase tendency with passing generations. Although this genetic disorder is incurable, life expectancy is not affected in people with fragile X syndrome because there are usually no-life threatening health issues associated with this disorder. Fragile X syndrome is predominant in boys who present with some level of intellectual disability than in girls who may present only with some learning disability. Per statistics from www.emedicine.medscape.com, conservative estimates are that fragile X syndrome affects about 1 in 2500 -4000 males and 1 in 7000 – 8000 females. It also stated that the prevalence of female carrier status has been estimated to be as high as 1 in 130 – 250 population, the prevalence of male carrier status is estimated to be 1 in 250 – 800 population.

Congratulation! You’re expecting a child! Both you and your partner are thrilled that you got a child, but until doctor say you that your child has Fragile X Syndrome. Fragile X syndrome the disease that was passed down from your parents to children through their genes. However, it’s causes logical and developmental disabilities.

What is Fragile X? “This is a genetic condition that causes learning disabilities, behavioral problems and many different physical characteristics”.

The genetic mutation Fragile X syndrome is the most commonly inherited form of intellectual disability. Because the disease was first studied in 1943 by British physician James Purdon Martin and British human geneticist named Julia Bell, Fragile X is also referred to as Martin-Bell syndrome. Though it was not until 1969 that scientist Herbert Lubs discovered what exactly causes Fragile X syndrome. He explained that those who obtain the mutation will possess an X chromosome with an unusual gap. The gap located on the chromosome is called a ‘fragile site,’ which is where the name originates from. Fragile X is genetically passed down to offspring, so researchers are striving to improve the symptoms in hopes that they can create a better future for the victims.