The Fragile X Syndrome

Autism is a developmental disability caused by neurological dysfunction. It affects the way a person understands and responds to the world, how they hear, see, feel, sense, perceive and interpret everything around them. This may affect how they eat, sleep, dress, work, spend leisure time etc. They are likely to have repetitive behaviour

Autism Spectrum Disorder is a name that is used for a group of developmental disorders. Children with Autism have great difficulty with bonding emotionally with others, they find it hard to make eye contact with others, communicate their feelings and express themselves to the people who are closet to them. Autism effects the brain which inhibits these children to interact, communicate, and concentrate. A child with Autism will display behavior such as, repetitive behavior, rocking, flapping hands, repetition of words, and will want to always arrange objects.

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.

Fragile X is a genetic condition that causes a variety of physical, social, and intellectual disabilities. Affected children experience developmental setbacks such as taking longer to sit, walk, or talk in contrast to other of a similar age group. Affected people show certain symptoms, in childhood and as they grow into adults, and through adulthood. Behavioral and neurological symptoms of Fragile X syndrome can include stuttering, anxiety, impulsiveness, seizures, depression, disorganized speech, balance problems, intellectual and learning disabilities, hyperactivity, attention difficulties, and social issues. Numerous people with Fragile X syndrome can also experience physical abnormalities. These can

There are many characteristics as you look at both the male and female side of the disability. One main characteristic is that many people with Fragile X also have autism, or possess many behaviors that are autistic-like (NFXF, 2006). Autism is defined as “a developmental disorder marked by impaired social interaction, communication difficulties, etc“(Agnes, p43). About 2 to 6% of children with Autism have Autism because of Fragile X. About one-third of children with Fragile X have Autism (NFXF, 2006). Also, many people with Fragile X can be confused to have Downs Syndrome. The physical characteristics of Fragile X can be similar to Downs Syndrome. These

Asperger 's syndrome, or AS, is the mildest form of autism. AS is three times more likely to affect boys than girls. (Autism 2013). Children with AS generally find an object or topic and obsess over it, finding out everything they can about it and memorizing it. Often they 'll talk nonstop about this topic. Where AS is mild most children are able to communicate slightly but still have some trouble with eye contact and some speech. Aspergers is also called "high-functioning autism" because those with AS usually have normal to above average intelligence. Children with AS are at high risk for anxiety or depression as they enter adulthood.

those who have FXS will not inherit all of the syndrome, rather they may have a combination of some

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.

Autism spectrum disorder and autism are both a group of complex disorders of the brain development and disabilities that can cause significant social, communication and behavioral challenges. Also known as ASD, it varies in the different ways it affects a child. Some children may be gifted and others might have challenges learning and might require more help in their daily activities. People with autism may often have issues with communication, emotional and social skills. Usually typical symptoms would be repetitive behaviors and do not like any change of their daily routines. They have different ways of learning, react differently to things that would be otherwise normal for others. Signs of this disorder will likely show from early childhood

Autism is a developmental disability that affects the way a child interacts with the rest of the world. It is the overall concept to a more complex disorder. Autism Spectrum Disorder, also known as ASD, is the more in depth concept for this topic. ASD helps to detect a wide degree of variation in the way it affects people. Every child on the Autism Spectrum has unique abilities, symptoms, and challenges. Individuals with autism have social, communication and language problems. They have their own unique quirks; for example, they become fascinated with certain subjects or items like rocks or astronomy. Autism may be mild or severe. All individuals with autism don 't have the exact same problems.

Autism is a varied family of disorders, and its prevalence is on the rise. Today, one in 110 children are diagnosed with Autism. Although there are a few drugs available to treat repetitive behaviors and irritability, associated side effects can limit their use. Currently there are no effective treatments for the core symptoms of Autism which often include language and communication shortfalls, intellectual disability, epilepsy, attention deficits, and hyperactivity (Dolan et al. 5671). Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and is universally recognized as the monogenic cause of Autism. The gene responsible for Fragile X Syndrome, FMR1, is located on the long arm of the X chromosome. It contains a CGG repeat sequence in the 5’-untranslated region that, on expansion to greater than 200 repeats, results in gene methylation and transcriptional silencing of the FMR1 gene. The absence of its protein product, fragile X mental retardation protein (FMRP), is responsible for the clinical symptoms and pathologic findings of FXS. In the past few years, a plethora of research has been conducted in regards to Fragile X syndrome. Many scientists are hoping to uncover therapeutic agents that not only address the secondary symptoms, but the root cause of the disease as well.

Fragile X Syndrome is a genetic disorder caused by changes to the FMR1 gene. The FMR1 gene creates a protein that is necessary for normal brain development and it is located on the 23rd chromosome (which makes it X-linked dominant). It affects both females and males, but it is more likely to occur in males and typically presents more severely in males. It is estimated at 1 in 4000 boys are affected, while 1 in 8000 girls are affected. Most males and around half of females present with physical characteristics; long and narrow face, large ears, prominent jaw and forehead, flat feet, and low muscle tone, all of which become more apparent post-puberty. It causes a range of developmental disabilities, from learning disabilities to more serious

Signs and symptoms vary among females with triple x syndrome. Some may cause no noticeable effects; others may have minor symptoms. If signs and symptoms- do appear, they may include: