Essay On Fragile X Syndrome

1.1 - Explain why it is important to recognise that each person on the autistic spectrum has their own individual abilities needs strengths gifts and interests.

A) Similarities between the symptoms of Tay-Sachs and Fragile X as well as the treatments or interventions.

Turner syndrome results in a monosomie of chromosome X and is the only viable monosomie known. One in every 5,000 newborns can inherit this disease. The mental abilities are not affected, although they are usually sterile owing to underdeveloped sex

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

Fragile X Syndrome is a genetic condition. FXS causes learning and behavioral challenges, intellectual disability as well as a variety of physical characteristics. Although Fragile X Syndrome can occur in males and females, males are affected more frequently than females are; furthermore, males with FXS generally experience characteristics with a greater severity than females with the condition do.

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,

The gene is mutated and it affects more males than females. Individuals with Fragile X have a large number of defects and disabilities including physical, cognitive, and neurobehavioral features (Jewell, J., 2004). This disability is caused by a gene that inactive which is the X chromosome. There is no known cure, yet, options are available to those who have this disorder. Individuals may receive speech therapy, physical therapy, and psychological services. For children attending school they may qualify for special education. Delays in cognition and learning are often associated with this syndrome. That's why; learning can be more challenging for these individuals. The impairments differ for those impacted with the syndrome. Accommodations are essential in order to meet the needs for each

Autistic infants often show little or no interest in other people and lack typical social behaviors. For example, they may not smile at their mother's voice or make eye contact with caregivers. Autistic children fail to develop normal relationships with their parents, brothers or sisters, and other children. Often they seem unaware of the needs and feelings of other people, and may not respond if another person is hurt or in distress. They also fail to make friends.

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 the most common known cause of inherited learning disability, affecting one in 4,000 men or boys and one in 6,000 women or girls. People with Fragile X Syndrome can have mild to severe learning disabilities. Their speech and language development may be delayed and they can experience anxiety in social situations. Behaviours associated with Fragile X can include a short attention span, impulsiveness, overactivity, dislike of eye contact, difficulty in relating to other people, the need for a familiar routine, repetitive speech and hand flapping or hand biting. Some of these are similar to difficulties that autistic people may experience. However, autism and Fragile X Syndrome are two different diagnoses. Some people are

Fragile X Syndrome is a genetic condition that causes intellectual disabilities, various physical characteristics and challenges to learning as well as behavioural issues. It effects both genders but majority of the time it will affect males more. There is still no cure, although finding the genetic condition early you can get help from professionals to make sure that people with Fragile X Syndrome can live up to their full potential.

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

Living with disabilities on a daily basis can be more difficult then some realize. Many people who are born with developmental disabilities start their education and therapy at a very young age and there are also those people who have been diagnosed with a disability sometime during their lifetime. But what is there for them to do once they have graduated from high school or are told they are too old to continue in a regular school or they are simply told they aren’t accepted in the “normal” community? In all reality there really

Carriers of the fragile X premutation (55-200 CGG repeats) are not rare in the general population. It is estimated that 1:130-250 females and 1:800 males carry the premutation state. Female carriers of the premutation can transmit either their normal or premutation allele to their children. However, in the case of Fragile X syndrome, anticipation can occur upon maternal transmission as the premutation passes from one generation to the next one. This risk of expansion of the premutation to a full mutation allele rises as the CGG repeat number rises as well. Individual carriers of a premutation allele have consequently increased amounts of FMR1 mRNA but on the contrary, moderately lower FMRP. The fragile X premutation can give rise to two clinical