Fragile X Syndrome Analysis

5. Males transmit their Y chromosome to their sons. This means that sons will not inherit an X-linked recessive condition from their father.

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.

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.,

Duchenne muscular dystrophy (DMD) is a genetic disease that weakens one’s muscles. DMD is inherited through an X linked pattern due to the gene carrying the DMD mutation is on the X chromosome. The male population are affected by DMD almost exclusive. There is a one in two chance that a male offspring will have DMD if their mother is a carrier of the mutated gene. Every boy inherits an X chromosome from their mother and a Y from their father. If a boy inherits the mutated gene, then they will definitely have the disease because they don’t have a second gene to make up for the faulty one. Female with DMD are very rare in comparison to their counterpart. Girls inherits two X chromosomes, one from each parent. When a girl inherits

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

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

Approximately 1 in every 10,000 infants in the United States is affected with Rett syndrome (RTT), an X-linked neurodevelopmental disease. (Jin, Chen, & Xiao, 2017). Nearly all RTT patients are girls as the mutation on the male’s single X-chromosome tends to be prenatally lethal. The disorder was first described by Andreas Rett in 1966 and is characterized by apparent normal development for the first six to eighteen months of life, followed by the loss of intellectual functioning, acquired fine and gross motor skills, and the ability to engage in social interaction (Krishnan, Krishnan, Connors, Choy, Page, Peti, Van Aiest, Shea, & Tonks, 2015). Other clinical manifestations include seizures, disturbed breathing patterns with periodic

In a recent study done in August of 2013, scientists found that autism had a peculiar affect on the female brain. Researchers were looking to find differences between the two genders, something to support the already explored EMR theory, (also known as the “Extreme Male Brain Theory”), but they did not expect the possibility of the female autistic brain having a masculine resemblance. Scientists studied several men and women, with and without autism, which led to the discovery of the differences between the two genders.

Genetic conditions that are X linked recessive related usually affect only the boys. This is because males have only one X and Y chromosome, while girls have two X chromosomes. If one of the genes on the male's X chromosome is altered there is not another copy of that gene to compensate for that altered gene. Girls being born with two X chromosomes are likely to show no effect of any disability even if they do receive an altered X chromosome because one working gene can mask the effects of the altered gene. Although girls will normally be unaffected if they do inherit the altered X chromosome, they will become a carrier and have a greater chance of their son to be born with the disability. In the end, the girl will have a 50% chance of being