Fragile X Essay

1704 words - 7 pages

DefinitionFragile X syndrome (FXS) is now the most common known inherited cause of developmental disabilities, but was not discovered until the late 1970s. By 1980 it was found that people showing certain mental and physical characteristics had a chromosomal abnormality caused by a partial break on an X chromosome, called a "fragile site". In 1991 the Fragile X gene was identified within this site.FXS is named after a site on the long arm of the X chromosome that is elongated and appears partly broken or 'fragile'. The spectrum of Fragile X syndrome ranges from normal development to developmental delay, learning disabilities, mild to severe intellectual disability, autistic-like behaviour and attentional problems. The majority of children are mildly to moderately affected. There may or may not be other known affected family members. Genetic testing has changed the approach to the diagnosis of the condition because there is now a reliable and relatively simple blood detection test which is available to all children with developmental delay of unknown cause.The diagnosis of FXS is important to implement effective management and interventional strategies. Detection of carriers allows families to make informed decisions following genetic counselling.IncidenceEstimates suggest about 1 in 4,000 males are affected and that about 1 in 1,000 females carry the gene. Many affected family members are unaware of the genetic cause and have yet to be diagnosed. In comparison, 1 in 700 live births has Down's syndrome (which is not usually inherited).The Fragile X SyndromeThe clinical features of Fragile X syndrome include physical, developmental and behavioural characteristics and range from normal through mild to severe in presentation. Intellectual disability (IQ less than 70) is present in 80% of males and 50% of females. Children may have been labelled as having pervasive developmental disorder, Asperger's syndrome, autistic spectrum disorder, learning disability or developmental delay.Differential DiagnosesDevelopmental delay of different aetiology, hearing loss, autism and autism-like behaviours.Physical, Developmental and Behavioural CharacteristicsPhysicalDysmorphic features are variable in both males and females and are not always present. The classic features include:· Elongated face with prominent jaw, which is more obvious after puberty.· Prominent, large ears.· High arched palate.· Large testicles, which are mainly seen after puberty.· Recurrent ear infections.· Connective tissue problems, such as flat feet, loose joints, congenital hip dislocation, scoliosis.· Mitral valve prolapse.· Seizures, including 'absences' or petit mal.· Eye problems, such as strabismus or squint.Remember, normal physical features may disguise the diagnosis.Developmental· Intellectual disability in approximately 80% of males and up to 50% of females.· Speech delay.· Learning disabilities,...

Find Another Essay On Fragile X

What´s Fragile X Syndrome Essay

865 words - 4 pages Fragile X syndrome is a sex-linked chromosomal abnormality that is more common in males than in females and is also less problematic of the majority of females. The presence of an abnormality in the X chromosome causes Fragile X syndrome. It becomes constricted and often breaks. There are some different outcomes that can occur within a person with fragile X syndrome. Mental retardation, learning disability, and anxiety can all be linked to

Communicating with Fragile X Syndrome Children

2271 words - 9 pages 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

Analysis of the Fragile X Syndrome

1818 words - 7 pages "Fragile X Syndrome (also called FXS) is the most common cause of inherited mental retardation." (2011, University of Michigan Health System). "The gene on the X chromosome that causes FXS is called the Fragile X Mental Retardation 1 (FMR1) gene. The FMR1 gene makes a protein that is needed for normal brain development." (September 1, 2006. Department of Human Health and Services Center of Disease Control and Prevention.) When this protein is

Experimental Medication on Children with Autism and Fragile X Syndrome

1794 words - 7 pages Imagine being a parent who just had a baby. One’s baby doesn’t speak when it should, it stops walking, then finally it stops making eye contact. There is no communication at all. Surely, most parents would be concerned and take one’s child to a pediatrician to discover what is wrong. That’s when one is told the child has Autism or Fragile-X Syndrome. Knowing the difference between Autism and Fragile-X could potentially have a major impact on

The Fragile X syndrome and Duchenne muscular dystrophy (DMD) disease comparation

3571 words - 14 pages gene disorder are individual rare and some are named after physicians who described them, for example, Duchenne muscular dystrophy and fragile-X syndrome (Martin-Bell Syndrome) which this paper relates.Fig 1 - DNA showing nucleotides basesFig 2- a) Normal male (46, X Y left) and b) female (46,Xx right) karyotype.·Fragile X SyndromeThe fragile X syndrome is an inhereted disorder, has a incidence of 1 per 4000 males and 1 per 7000 females

Genetic Disorders

1056 words - 5 pages Genetic Disorders Most individuals are either related to or know someone who is effected by some type of disability. Many of these disabilities are caused by genetic disorders. Genetic disorders may alter physical appearance and cause mild to severe mental retardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes result from a mutation of a chromosome, an extra chromosome, or too few chromosomes. Discovered in

Genetic Disorders and Down Syndrome

1177 words - 5 pages and cause mild to severe mental retardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes result from a mutation of a chromosome, an extra chromosome, or too few chromosomes. Discovered in 1991, Fragile X syndrome is considered a fairly new genetic disorder. According to The Fragile X Association, Fragile X Syndrome (FXS) is caused by the expansion or lengthening of the FMR1 gene on the X chromosome, known as a

The Etiology of Autism

1694 words - 7 pages with autism. These various hormonal pathways offer possible biochemical etiology of autism. One of the largest areas of research being conducted in discovering the etiology of autism is in the field of genetics. Current research has uncovered many different genetic abnormalities associated with the development of autism. One particular genetic condition that appears to be linked to the development of autism is the fragile X syndrome. The fragile

Effects of Neurodevelopmental Disorders

1672 words - 7 pages The prevalence of neurodevelopmental disorders has been on the rise for the past four decades, according to the third edition of America’s Children and Environment (2011). A neurodevelopmental disorder is defined as a disorder that affects the nervous system. These conditions include Attention Deficit Hyperactivity Disorder (ADHD), autism, cerebral palsy, Down syndrome, dyslexia, dyscalculia, and Fragile X syndrome. Such disorders take more than

The Genetics of Autism

1666 words - 7 pages verbalize that there may be a link between immunization as far as vaccines. One particular vaccine in question is the Measles, Mumps-Rubella or MMR Vaccine, but studies have found no link between vaccines and autism. However, it remains possible that, in recherche cases, immunization might trigger the onset of autism symptoms in a child with a genetic condition. One particular cause of autism in males is a syndrome reffered to as Fragile X Syndrome

Variations and Characteristics of Mental Retardation

1327 words - 6 pages environmentaly, being caused by injury, disease or abnormality (Sue, Sue, & Stanley, 2010). There are many disorders under the umbrella of mental retardation, with the most common being Fragile X Syndrome, Down Syndrome, and Alcohol Fetal Syndrome (Sue, Sue, & Stanley, 2010). Fragile X Syndrome is the most common inherited form of mental retardation, and the most common known cause of autism, occuring as a result of mutation of the FMR-1 gene

Similar Essays

Fragile X Syndrome Essay

780 words - 4 pages 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

Fragile X Syndrome Essay

1411 words - 6 pages Fragile X syndrome is the most common genetically inherited form of mental retardation currently known. In addition to intellectual disability, some individuals with Fragile X display common physical traits and characteristic facial features, such as prominent ears. Children with Fragile X often appear normal in infancy but develop typical physical characteristics during their lifetime. Mental impairment may range from mild learning disability

Fragile X Syndrome Essay

1344 words - 5 pages IntroductionFragile X syndrome is the most common cause of inherited mental retardation, seen in approximately one in 1,200 males and one in 2,500 females. Males with fragile X syndrome usually have mental retardation and often exhibit characteristic physical features and behavior [Hagerman and Silverman, 1991; Warren and Nelson, 1994]. Affected females exhibit a similar, but usually less severe phenotype.The diagnosis of fragile X syndrome was

Fragile X Syndrome Essay 2317 Words

2317 words - 10 pages types of mental retardations, my focus will be the fragile X syndrome. The fragile X syndrome is a common form of mental retardation. This syndrome is known as the X syndrome due to the site of the mutated gene, which is located on chromosome Xq27.3. According to many sources, the mutated gene in the fragile X syndrome is widely to carry the name of the FMR1 gene. As stated in “The Metabolic and Molecular Basis of inherited Disease”, the fragile