I. Family Member Perspective:
It all began at birth when we noticed our newborn baby boy had a slightly larger and more rounded head in comparison to the other babies. As he was developing he always had trouble communicating with us. His speech development was lacking behind causing constant behavioral problems. He would constantly yell and throw objects whenever he needed something. By the age of four our son had extreme difficulty communicating with his pre-school class, forcing us to remove him from pre-school and begin schooling our child on our own. While trying to educate our child on different shapes and sounds he could not remain in one spot for longer than five minutes. This led us to get genetic testing for our son and us. We learned that my wife was a carrier and that she had a 50% chance of having a child with the full-mutation of Fragile X, and our son was diagnosed with the full-mutation of Fragile X.
II. Background:
Martin and Bell, in 1943, found that a particular form of mental retardation was “X-linked”. In 1969, Herbert Lubs developed the first chromosome test kit for Fragile X syndrome1. More recently in 1991, the specific gene that causes Fragile X syndrome was identified as FMR12. Famous people that have/had Fragile X syndrome include: Albert Einstein and Abraham Lincoln.
Physical Manifestations (symptoms) 3:
● Large head circumference in babies
● Intellectual disability
● Large testicles after the start of puberty
● social anxieties
● Subtle differences in face features
● Attention-Deficit
● Genetic testing is possible to diagnose this disease
Statistical Data 4:
● Fragile X syndrome is diagnosed in boys at an average age of 35 to 37 months and girls are diagnosed at an average age of 42 months
● ...
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Genetics Home Reference, "Fragile X syndrome." Last modified April 2012. Accessed November 18, 2013. http://ghr.nlm.nih.gov/condition/fragile-x-syndrome.
National Fragile X Foundation, "Treatment and Intervention." Accessed January 30, 2014. http://www.fragilex.org/treatment-intervention/.
Wells, Robert. American Society for Biochemistry and Molecular Biology , "Mutation Spectra in Fragile X Syndrome Induced by Deletions of CGG•CCG Repeats." Last modified October 28, 2008. Accessed January 30, 2014. http://www.jbc.org/content/284/12/7407.full.
Mayo Clinic Staff. "Autism." Autism- MayoClinic.com. MayoClinic, 06 Oct 2012. Web. 11 Dec 2013. .
According to the CDC, FAS is the leading cause of preventable developmental disabilities and birth defects. It is not known how many people have fetal alcohol spectrum disorders or FASD of which fetal alcohol syndrome is the most prevalent of the spectrum of disorders. CDC studies have identified 0.2 to 1.5 infants are born with FAS per 1000 live births, (this rate is comparable or higher than rates for other disorders such as Spina Bifida and Down syndrome) another study found FAS in 0.3 out of 1000 children aged 7 to 9 years. The Minnesota Department of Health states that because not all children exhibit facial characteristics, it is under diagnosed and up to 20% of children have been exposed prenatally to alcohol. Epidemiologic studies
Rett syndrome is a neurological disorder that mainly affects females. According to “The Molecular Pathology of Rett syndrome: Synopsis and Update”, it states that the disorder starts to be recognizable when the child is between six to eighteen months of age. The affected child will loose their ability to speak and hand movements. Through research, MECP2 is in the X chromosome gene (2006). An estimate of females that suffer from Rett syndrome is 1 in 1,000 and in the United States, it is approximately 16,000 young and adult females that are affected (Rett Syndrome, 2008). In my paper, I will give a brief history of how Rett syndrome was first noticed, discuss the dysfunction in the brain, the development and behavior, and possible treatments.
"What's New." Genetics Home Reference. Genetics Home Reference, 06 May 2013. Web. 10 May 2013
Rudy, Lisa J. "What Causes Autism?" About.com Autism Spectrum Disorders. About.com, 23 Dec. 2010. Web. 21 Feb. 2014. .
Do you know there is a medically diagnosed disorder that affects over two American children?” Experts on the subject say there are many more undiscovered cases out there and the cause is still unknown. It sounds like we have a really big problem. The thing is, the disorder that affects all these children, isn’t a disorder at all.
Jerome Lejeune, a geneticist, distinguished Cri Du Chat syndrome in 1963: he also discovered down syndrome. The syndrome, in French, means ‘Cry of the Cat’. This syndrome is caused when the short arm of the 5th chromosome is deleted. Due to this deletion, multiple genes are missing. Therefore, this causes numerous disorders. (Who discovered Cri Du Chat, Explorable.com)
In the early components of this year, his parents had genetics test done on him to optically discern if his twin brother could possibly have the trait to have autism. It was found that he has the Fragile X Syndrome. Fragile X syndrome is associated with the expansion of the CGG trinucleotide reiterate affecting the Fragile X mental retardation 1 (FMR1) gene on the X chromosome, resulting in a failure to express the fragile X mental retardation protein (FMRP), which is required for mundane neural development. Absence of FMRP in turn leads to abnormalities in brain development and function.
The children that are affected by this disability have delayed development of speech and language, along with serious intellectual disability. With FXS come various amounts of other issues for children and adults, which include, difficulty-paying attention, which can lead to attention deficit disorder (ADD), showing features of the autism spectrum and possibly having reoccurring seizures (Bagni, Tassone, Neri & Hagerman 2012). FXS is caused by mutations in the FMR1 gene, which is located on the X chromosome, therefore causing a malfunction in expressing the fragile X mental retardation protein that is vital in normal neural development (Bagni et al., 2012). “FXS is the most frequent form of inherited intellectual disability and is also linked to other neurologic and psychiatric disorders” (Bagni et al. 2012...
First named and treated in the 1960’s, the condition results from the toxic effect of alcohol consumption and its chemical factors on a developing fetus. FAS is the leading cause of mental retardation in one out of every seven hundred fifty births. This number changes drastically if the mother is a heavy, habitual alcoholic, as high as twenty nine children out of every one thousand births. The ultimate sadness of this disease is that is one hundred percent
Fragile X Syndrome is a genetic disorder that causes individuals, mostly men, to develop developmental problems and cognitive impairment. Although men are mostly affected by this disorder, it can affect women as well. Approximately one in four thousand males are affected by Fragile X while only one in eight thousand women are affected (Fragile X syndrome, 2012). Fragile X causes a variety of symptoms such as possible ADD, anxiety, delayed development of speech and language, mild to moderate intellectual disability and hyperactive behavior. Symptoms of Fragile X can start by the age of two, or earlier. Men affected by Fragile X mostly experience mild to moderate intellectual disabilities. Since Fragile X is more common in males, they tend to experience symptoms more than women do. Intellectual disabilities usually only affect about one-third of women that have Fragile X. Children with Fragile X experience anxiety and tend to fidget more than normal or have impulsive actions. Many children may also have ADD which allows them not to be able to focus as much as a normal child would. Behavioral abnormalities are a common feature of Fragile X. Biting at the hands, flailing hands are arms and gaze aversions. When it comes to deficits, they most likely occur in reasoning, processing the environment and mathematics. Individuals with Fragile X may show features of autism, this mainly occurs in only about one-third of individuals with Fragile X. Another symptom of Fragile X is seizures. Again, since Fragile X is more common in males, seizures are more common in males. While only five percent of women experience seizures, about fifteen percent of males experience seizu...
Dr. Hans Asperger was the first to describe Asperger’s Syndrome, also known as AS, in 1944. He explained that AS causes clumsiness, poor motor skills, and an inability to walk or run smoothly (Miyahara, Tsujii, ...
In addition to the environmental factors during the child’s early development, such as ingesting harmful substances during pregnancy, genetics also plays a major role in the causation of autism. Individuals, who suffer from specific medical conditions, such as fragile X syndrome, tuberous sclerosis and congenital rubella syndrome, tend to experience higher prevalence of the disorder. Once the individual has been diagnosed with the disorder, early intervention can attempt to improve the child’s social communication skills, reduce anxiety and lower their aggression levels. It is crucial that the individual suffering with the disorder is within a supportive and nurturing
According to this definition, the Centers for Disease Control and Prevention (CDC) categorize a broad range of conditions as DDs, such as attention-deficit/hyperactivity disorder, autism spectrum disorders (ASD), cerebral palsy, fragile X syndrome, hearing loss, learning disability, intellectual disability (ID), Tourette syndrome, vision impairment, and others. DDs, such as ID and ASD, affect up to 3 percent of the U.S. population, respectively. When including other developmental disabilities (e.g., ADHD, cerebral palsy, language disorders, learning disorders and others) the prevalence of having any developmental disorder increases to over 15% in children 3 to 17 years of age. These disorders may have a profound impact on patients, families, and society, given the need for potentially lifelong individual and family support or treatment.”
Turner Syndrome Society of the United States (2011). http://turnersyndrome.org Retrieved November 30, 2013 from http://turnersyndrome.org/learn-about-ts/what-ts