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Fragile X syndrome- mutations in the FMR1 gene

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Fragile X Syndrome

  1. Creative Writing:

Braden was 30 months old when he spoke his first words, merely 6 months before his diagnosing. When the physician foremost explained our state of affairs, I couldn’t aid but fault my married woman out of defeat, even though I knew it wasn’t her mistake and that she couldn’t control her cistrons. Nevertheless, life is different when you have a boy with delicate X syndrome. My married woman had to discontinue her occupation to take attention of him full-time, and we had to happen a school where we could inscribe him in particular instruction.

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Honestly, it can be difficult to even go forth the house because of how disquieted he will acquire sometimes, but we have been working on that with him in his therapy Sessionss, where he is besides easy larning how he will populate independently, subsequently in his life. Recently, we were even able to acquire him into a clinical survey, but, unluckily, the medicine tested seemed to hold small consequence for him.

Regardless, it still gives me hope that someday there will be a remedy, and I still love him. I’ve gone through times where I have literally ripped my hair out in defeat, and times where I have experienced uncomparable joy from seeing his accomplishments, but, throughout all that both my married woman and I have dealt with, it has been deserving it to be able to watch my boy turn up.

  1. Background Information:

Fragile X was foremost discovered in 1943 by James Martin and Julia Bell. By look intoing a household that had multiple males who suffered from mental deceleration, Martin and Bell linked their developmental upsets to a signifier of X-linked heritage[ 1 ] [ 3 ]. No celebrated people are known to hold had delicate X syndrome, since the symptoms of the disease frequently prevent the societal success necessary to go celebrated in our society, although it is suspected that Albert Einstein and Kim Peek both had fragile X. Peoples with delicate X normally have delayed address development. Most males with the syndrome are reasonably intellectually handicapped, while merely about 30 % of females are. Many have attending upsets, behavioural challenges, anxiousness jobs, and hyperactivity. Seizures occur in 1/6 males and 1/20 females. Physically, as the affected individual begins to travel through pubescence, many develop narrow faces, larger heads/ears, level pess, and big brows[ 2 ] [ 5 ]. Diagnosis occurs in early childhood, by and large around the 36 months of age, and there is no noteworthy fluctuation seen between cultural groups. About 1 in 4000 males have fragile X syndrome, while merely about 1 in 8000 females have it, which is due to the fact that many female victims of delicate Tens are able to work at a high plenty degree that the syndrome may travel unnoticed because adult females have two X chromosomes. Additionally, 1 in 800 work forces and 1 in 260 adult females are bearers of the pre-mutation of delicate Ten[ 1 ] [ 4 ].

[ 1 ] Centers for Disease Control and Prevention. “ Fragile X – Data & A ; Statisticss. ” Centers for Disease Control and Prevention. hypertext transfer protocol: //www.cdc.gov/ncbddd/fxs/data.html ( accessed January 31, 2014 ) .

[ 2 ] “ Fragile X syndrome. ” Genetics Home Reference. hypertext transfer protocol: //ghr.nlm.nih.gov/condition/fragile-x-syndrome ( accessed January 26, 2014 ) .

[ 3 ] Jewell, Jennifer. “ Fragile X Syndrome. ” Medscape.com. hypertext transfer protocol: //emedicine.medscape.com/article/943776-overview # a0101 ( accessed January 28, 2014 ) .

[ 4 ] National Fragile X Foundation. “ National Fragile X Foundation Home. ” National Fragile X Foundation. hypertext transfer protocol: //www.fragilex.org ( accessed January 26, 2014 ) .

[ 5 ] USA.gov. “ What are the symptoms of Fragile X syndrome? ” National Institutes of Health. hypertext transfer protocol: //www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/commonsymptoms.aspx ( accessed January 26, 2014 ) .

  1. Scientific Information:

Fragile X syndrome is caused by mutants in the FMR1 cistron, which is located on the X chromosome. More specifically, it is caused by an expanded repeat of the CGG three in the cistron. In a normal individual, the section repeats approximately 5 to 40 times, but in people with the syndrome, the three is repeated more than 200 times, doing the FMR1 cistron to be silenced. The syndrome is inherited through a sex-linked, dominant form, and causes more drastic effects in males. The protein the FMR1 cistron green goodss, delicate X mental deceleration 1 protein ( FMRP ) , is important to nervous system maps and synapse development. The protein besides is used to modulate the production of other proteins. A deficiency of development of FMRP can ensue in encephalon cells to non be able to pass on every bit good as they should[ 1 ].

Pedigree.jpg

Unfortunately, there is no remedy for delicate X syndrome. Presently, the lone direct intervention for delicate Ten is being done through clinical research, which is easy doing advancement, but kids can still be helped instantly, if needed or desired. Doctors can order medicines to handle the effects of delicate X, such as attending upsets, like ADHD, and anxiousness jobs, such as OCD. In more terrible instances, anti-psychotics may be prescribed. Particular instruction can besides assist any kid with the syndrome to do advancement both mentally and socially, and there are therapy plans available to assist the kid go independent as they move on in their lives[ 2 ].

[ 1 ] “ Fragile X syndrome. ” Genetics Home Reference. hypertext transfer protocol: //ghr.nlm.nih.gov/condition/fragile-x-syndrome ( accessed January 26, 2014 ) .

[ 2 ] National Fragile X Foundation. “ National Fragile X Foundation Home. ” National Fragile X Foundation. hypertext transfer protocol: //www.fragilex.org ( accessed January 26, 2014 ) .

  1. Resources for Patients and their Families:

The best resource for households covering with delicate X syndrome seems to be the National Fragile X Foundation ( www.fragilex.org ) , which provides information, life planning, research chances, assistance, and more to households with kids diagnosed with Fragile X syndrome[ 1 ].

[ 1 ] National Fragile X Foundation. “ National Fragile X Foundation Home. ” National Fragile X Foundation. hypertext transfer protocol: //www.fragilex.org ( accessed January 26, 2014 ) .

  1. Bibliography:

Centers for Disease Control and Prevention. “ Fragile X – Data & A ; Statisticss. ” Centers for Disease Control and Prevention. hypertext transfer protocol: //www.cdc.gov/ncbddd/fxs/data.html ( accessed January 31, 2014 ) .

“ Fragile X syndrome. ” Genetics Home Reference. hypertext transfer protocol: //ghr.nlm.nih.gov/condition/fragile-x-syndrome ( accessed January 26, 2014 ) .

FRAXA. “ Fragile X Syndrome – FRAXA Research Foundation Home Page. ” FRAXA Research Foundation. hypertext transfer protocol: //www.fraxa.org/ ( accessed January 30, 2014 ) .

Jewell, Jennifer. “ Fragile X Syndrome. ” Medscape.com. hypertext transfer protocol: //emedicine.medscape.com/article/943776-overview # a0101 ( accessed January 28, 2014 ) .

National Fragile X Foundation. “ National Fragile X Foundation Home. ” National Fragile X Foundation. hypertext transfer protocol: //www.fragilex.org ( accessed January 26, 2014 ) .

National Institutes of Health. “ Families and Fragile X Syndrome. ” nih.gov. hypertext transfer protocol: //www.nichd.nih.gov/publications/pubs/fragileX/Documents/fragileX.pdf ( accessed January 30, 2014 ) .

Urry, Lisa A.. “ Gene Expression: From Gene to Protein. ” InCampbell Biology In Focus. Boston: Pearson, 2014. 267-291.

USA.gov. “ What are the symptoms of Fragile X syndrome? ” National Institutes of Health. hypertext transfer protocol: //www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/commonsymptoms.aspx ( accessed January 26, 2014 ) .

Cite this Fragile X syndrome- mutations in the FMR1 gene

Fragile X syndrome- mutations in the FMR1 gene. (2016, Dec 07). Retrieved from https://graduateway.com/fragile-x-syndrome-mutations-in-the-fmr1-gene/

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