Fragile X Disease Essay

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

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.

Five other gene disorder that contributes to autism are (1) "EN2 (Engrailed 2) involved in cerebellum development. (2) GABR (Gamma Amino Butyric Acid Receptor) regulates brain cell migration. (3) OXTR (Oxytocin Receptor) participating in the response to stress and social skills. (4) RELN (Reelin) involved in neuronal migration in the developing brain. (5) SLC6A4, a serotonin transporter gene” (Johnson, Giarelli, Lewis, & Rice, 2013). As a result of all the researches done several chromosomal loci have been shown to be linked to Autistic Spectrum disorder including those at 2q24-2q31, 7q22-7q31, 7q34-7q36, and 17q11-17q21. Structural chromosomal changes involving deletions and duplication at 7q11, 15q11-15q13, 17p11.2, 22q11.2, and 22q13 have also been associated with forms of autism. However, the most common chromosomal abnormalities currently associated with autism include the fragile X mutation, other sex chromosome abnormalities, and abnormalities of 15q11-q13. “Evidence has shown that duplications of 15q11–q13 have led to higher risks of Autism Spectrum Disorder and developmental and cognitive deficits” (Flashner, Russo, Boileau, Leong, & Gallicano, 2013). Chromosome 15q11-q13.1 region is subject to genomic imprinting, which is an epigenetic process that results in monoallelic gene expression. Duplications lead to autism and are usually maternal in origin. Deletion of the maternal allele of chromosome 15q11-q13 cause Angelman syndrome (AS) a neurodevelopmental disorder

Did you know that about 1 in 4,000 males and 1 in 8,000 females are affected by Fragile X Syndrome(CDC)? Fragile X Syndrome affects does not only affect the young or the old but it will affect anyone of any age. Children who have Fragile X Syndrome can learn many different ways of communicating with others. Also there are many ways to help a Fragile X children become more socially active. There are many ways to help Fragile X Syndrome children to communicate.

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,

While there are many theories there is no single cause of autism. One theory assumes multiple factors interacting in complex ways (i.e. genes, environment and brain) can cause autism. Genetics play a role but do not explain the full picture or the recent increase in reported cases. According to Volkmar and Weisner (2009), "Identical twins have identical genes, while fraternal twins share only some genes. The implication of this finding was that there was potentially a very strong genetic contribution in autism. A number of studies have shown that this is the case. " (p. 26). There are medical conditions associated with autism which include, phenylketonuria, congenital rubella, tuberous sclerosis, and Fragile X. The strongest associations are with Fragile X, a genetic condition causing intellectual disability and tuberous sclerosis, a genetic disorder that causes tumors to form in many different organs, primarily in the brain, eyes, heart. There is no strong evidence that environmental etologies cause autism. Some researchers assume that environmental toxins can increase the rate of autism, but evidence proposed for environmental factors is based on a case by case report which is difficult to interpret (Volkmar & Weisner,

Genes are often named after their condition. The gene is called FMR1 gene; this acronym stands for Fragile X Mental Retardation gene. It is typical of the FMR1 gene to repeat seven to sixty times the CGG pattern. This is normally repeated approximately 30 times; however, in this instance it repeats well above the average. An individual with the syndrome may have well over 200 repeats of the gene. With such high numbers of the gene created the methyl group bind together with the C bases (or cytosine) affecting the gene and causing it to be deactivated. This gene is present in everyone and is responsible for the development of the brain and testes by producing a protein that allows other genes to work normally (Saunders, S., 1999). Due to the gene not functioning, it does not create the protein needed for brain development. This is how Fragile X Syndrome

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).

Neurological disorders are complex in nature and often the least understood. Given the recent boom in imaging technology and other diagnostic methods, it is now possible to see more clearly into the scope of neurological development and accurately determine the etiology of these diseases. One of such disorders is Autism; a multifactorial condition impairing normal brain development. It affects many aspects of development, including social behavior, cognitive ability and communication skills1 and is commonly diagnosed in children before the age of three1. The symptoms of this condition can vary greatly between individuals; hence its classification as a spectrum disorder. Asperger syndrome, Rett syndrome and pervasive

The genetic mutation Fragile X syndrome is the most commonly inherited form of intellectual disability. Because the disease was first studied in 1943 by British physician James Purdon Martin and British human geneticist named Julia Bell, Fragile X is also referred to as Martin-Bell syndrome. Though it was not until 1969 that scientist Herbert Lubs discovered what exactly causes Fragile X syndrome. He explained that those who obtain the mutation will possess an X chromosome with an unusual gap. The gap located on the chromosome is called a ‘fragile site,’ which is where the name originates from. Fragile X is genetically passed down to offspring, so researchers are striving to improve the symptoms in hopes that they can create a better future for the victims.

     Mosaic Trisomy 21 happens when an egg or sperm come in with an extra copy of chromosome 21, then,