Fragile X Syndrome Analysis

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.

The CAG combination codes for a protein called huntingtin. Why the increase number of CAG causes HD is still unknown. It is thought that too much of the HD protein makes them obtain some new, abnormal property. This is true in two

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.

Shaken Baby Syndrome: Brain damage maybe a result of shaken baby syndrom, these children may also suffer from having long-term side effects including visual impairment or blindness, seizures, learning disabilities, cerebral palsy and emotional behavior problems as well as other neurological side effects (Healthwise, 2015).

Fragile X syndrome (FXS), often referred to as Martin-Bell syndrome, is an inherited genetic condition, associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism, especially in boys. In addition to intellectual disability, there are distinguishing physical features as well, including elongated face, protruding ears and low muscle tone

What is Fragile X? “This is a genetic condition that causes learning disabilities, behavioral problems and many different physical characteristics”.

After reviewing the deferent unique forms of homicidal violence against children the focus for this discussion board will be "Shaken Baby Syndrome". By definition by the American Academy of Pediatrics (AAP) Shaken Baby Syndrome (SBS) is the physical abuse of a child of a violent and at times deadly shaking of an infants' body or extremity. Infants who are between the ages of 2 to 4 mounts are the most vulnerable to these attacks. In any case, "whiplash" is the most shared injuries and more so internal hemorrhages leading to death. (Abuse statistics 2017, n.d.)

Recently, a new mutational mechanism leading to increase in number of CAG repeated triplets in several human genes responsible for the hereditary disorders was identified [Caskey et al., 1992; Richards et al., 1992]. The cause of disease is expansion of trinucleotide repeat in the androgen receptor (AR) gene on X chromosome at the Xq11^12 (La Spada et al. 1991). The principal pathological manifestation of the SBMA is loss of the motor neurons in spinal cord and the brainstem (Sobue et al. 1989).

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,

Shaken Baby Syndrome (SBS) is a condition that manifests in infants and young children due to a severe incident of physical abuse (Hockenberry & Wilson, 2011, p. 632). More specifically, rapid, alternating jerking movements of the head results in SBS (Hockenberry & Wilson, 2011, p. 632). According to Hockenberry & Wilson, “1200 to 1400 children are shaken . . . every year in America” (2011, p. 632); of those shaken children, “25% to 30% die” and the others who are a victim of abuse will have “life-long complications” (Hockenberry & Wilson, 2011, p. 632).

Verkerk discovered the fragile X mental retardation 1 (FMR1) gene in 1991, in individuals with a

There is a place in the FMR1 gene where the DNA pattern CGG is repeated over and over again. In most people, the number of repeats is small (5 to 44 repeats), which is normal. If the number of repeats is too large (more than 200 repeats), the gene turns off. When the gene is turned off, no protein is made.

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:

The Fragile X Syndrome is a mutation in the gene Fragile X. This usually means that the X chromosome of the child appears to be pinched when looked at under a microscope (Akshoomoff, Pierce, & Courchesne, 2002). This simple pinched mutation causes the child to not develop how you would expect the chromosome to normally develop. Of course when something does not develop correctly there will be complications and issues. Researchers have noticed that many children with Fragile X Syndrome and autism seem to have similar symptoms, especially when it comes to their social development. This is why they originally thought that Fragile X Syndrome and autism were connected. This is why sometimes most children are only thought to have ASD or Fragile X

However, there is a possibility that genetics can play a role in the cause of the