Essay on Fragile X Syndrome

Autism is a form of neurodevelopment disorder in the autism spectrum disorders. It is characterized by impaired development in social interactions and communication, both verbal and non-verbal. There is an observed lack of spontaneous acts of communication; both receptive and expressed, as well as speech impairments. A person diagnosed with Autism will also show a limited range of activities and interests, as well as forming and maintain peer relationships. The individuals will display limited interests, which are often very focused and repetitive. He or she is likely to be very routine oriented and may show behavioral symptoms such as hyperactivity, impulsivity, aggressiveness, and self-injurious behaviors.

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 lot of various genes appear o be involved in autism spectrum disorder. For some children, autism spectrum disorder can be combined with a genetic disorder such as Rett syndrome or fragile X syndrome. For other genetic changes may make a child more affected to autism or create environmental risk factors. Still other genes may affect the brain progress or the way that brain cells communicate, or they may determine the severity of symptoms. Some genetic problems seem to be innate, while others happen unconsciously. (Mayo clinic staff, 2014)

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

     Autism is a developmental disability that affects all areas of behavior and perception. Approximately 10 out of every 10,000 children are diagnosed with autism and four out of five are males. Autism is the third most common developmental disability, more common than Down Syndrome. Children with Autism are characterized by impairment in several areas of development such as: Cognitive, Language, Play/Socialization skills and exhibit many challenging behaviors. Behavior Patterns of Autism:

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.

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

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.

It can affect anyone; a study analyzed the DNA of 179 people, estimating that ranged from just a handful up to 100 or more serious disease- associated mutations (Xue et al., 2012).

Fundamentally, mutations of the FMR1 gene occur in which a DNA segment, specifically the CGG triple repeat, which contains instructions for producing a protein called FMRP, is excessively expanded within the gene. Normally the segment is repeated five to forty times in the gene, but in Fragile X Syndrome the strand is repeated over 200 times. The abnormally expanded segment mutes the FMR1 gene, preventing it from producing the protein, FMRP. Deficiency of the protein disrupts functions of the nervous system resulting in the symptoms of Fragile X Syndrome. The condition is inherited through an X-linked dominant pattern.

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,

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.

It mostly affects males, who receive the abnormal X gene. Females with one abnormal X chromosome may have some effects of the gene, but the normal X chromosome can offer some protection against the gene. Fabry Disease occurs in all ethnicities and races. Type I occurs in 1 out of 40,000 males and type II is more common affecting 1 in 1,500 to 4,000 males. The prevalence of Fabry Disease in females in unknown due to the disease being X-linked. Unlike other X-linked disorders, Fabry disease causes significant medical problems in many females who have one altered copy of the GLA gene. These women may experience many of the classic features of the disorder, including nervous system abnormalities, kidney problems, chronic pain, and fatigue. They also have an increased risk of developing high blood pressure, heart disease, stroke, and kidney failure. The signs and symptoms of Fabry disease usually begin later in life and are milder in females than in their affected male relatives (ghr,

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

Mental Retardation can be caused by many different factors such as environmental (drug use during pregnancy), genetic disorders (trisomy 21 – down syndrome), trauma, and prenatal infections to name a few. Mental retardation is a major cause of