Characteristics Of Fragile X Syndrome

Fragile X Syndrome affects the X chromosome, genes and DNA. It affects the X chromosome by a locus as seen in figure 2 below. A clear comparison can be made between a normal X chromosome and a Fragile X affected X chromosome. The genes and DNA are affected by a section of nucleotides in which the triplet CGG nucleotide sequence is repeated. If the triplet is repeated over 200 times in a person, then they are most likely to suffer from fragile X Syndrome as seen in table 1.

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

The mother, who is a carrier, inherits an X-Linked or sex-linked faulty gene. The result is producing an affected son and or a daughter being a carrier. The second way is an affected male producing children, particularly daughters. All daughters born to fathers with x-linked muscular dystrophy will be carriers; on the contrary their sons will be unaffected. Scientists link this to a genetic mutation in the gene, appearing most often for the first time in a family.

Females are carriers in their X-Chromosome and they have the chance of passing the disease on to their children, 50-50 to a girl and 50-50 to a boy. If the girl does receive the gene she becomes a carrier. If the boy gets the gene then he has the disease. Males do not pass on the gene to their children because they pass on the Y-chromosome and the disease is X specific. Some female carriers have indicators of being a carrier by having symptoms of cardiomyopathy, shortness of breath during exercise, and muscle weakness in the back, arms, and legs. There have been very rare instances where a girl has not received a

Approximately one-third of the females with Fragile X Syndrome have a substantial learning disability, the other two-thirds have mild to moderate intellectual disabilities. This two-thirds may also experience issues related to their mental/emotional health as well as social and/or general anxiety disorders. Although rare, there are some females whose FMR1 Gene, which is the gene responsible for causing FXS, fully mutates; thus, eliminating any apparent signs of Fragile X Syndrome. These females usually remain undiagnosed until another family member is diagnosed with the syndrome.

Fragile X Syndrome is a genetic condition causing intellectual disability, behavioural and learning challenges and various physical characteristics, it occurs in both genders but effects males more. Also is the most common gene for Autism worldwide, every week in Australia one child is born who is fully affected and 20 children are born who are carriers. It is estimated that 5 per cent of people with a diagnosis of an Autism Spectrum disorder also have Fragile X.

Duchenne Muscular Dystrophy is a genetic disorder that is passed on through the x chromosomes. Only men are

XYY Syndrome is a genetic disease where a male has an extra Y chromosome. This could then lead to an increased risk of learning disabilities.(Genetics Home Reference). XYY Syndrome

Based on that each patient should be treated differently. Treatment may include medical care, medication, parent training. Some examples for medical specialist are immunologist, audiologist, ophthalmologist and mental health professions. Some medications may help improving some symptoms, yet there are no medications have been approved specially to treat FASD. Stimulants is used to treat symptoms such as hyperactivity, problems paying attention and other behavioral problems. Another example for medications is Antidepressants which are used to treat symptoms such as sad mood, loss of interest and sleep problems. Parents of a child with FASD should be educated about their child disabilities because if the parents are not educated the child with FASD may not response to the usual parenting practice. There are special techniques that can be taught by therapists or special programs to deal with a child with FASD. Although there is no cure for FASD, yet it can be completely prevented by not drinking alcohol in any time or any amounts during pregnancy. It is never too late to stop drinking alcohol for a pregnant woman because the brain growth takes place throughout pregnancy, the early a woman stops drinking the safer will be for her and her

The National Organization for Rare Disorders (NORD) says that MSUD happens to males and females at the same rate. The risk of having any form of MSUD depends if your parents have this disorder or not. If both of the parents have the disorder, each child has a 25 percent chance of getting two mutated genes and getting MSUD, the child would have a 50 percent chance from getting one normal gene from each parent. The parent or parents are not able to pass on the gene to their children if they have two normal genes for MSUD. (Healthline,

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

Fragile X Syndrome, also known as FRAXA syndrome, fra(X) syndrome, FXS, marker X syndrome, or Martin Bell syndrome, is a disorder onset by a genetic mutation in the FMR1 gene. This gene produces a protein called FMRP which regulates the production of other proteins and plays a role in the development of synapses, which are specialized connections between nerve cells (National Library of Medicine, 2014). The FMR1 gene has a DNA segment called CGG triple repeat, which is repeated about 5 to 40 times in a typically developing individual. There are two type of mutations associated with Fragile X: A full gene mutation and a gene premutation. In cases of individuals with a full gene mutation, the CGG segment is repeated more than 200 times (National Library of Medicine, 2014).

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 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