Fragile X Syndrome by Karen Sola-Mendez https://padlet.com/ksolamendez/n71rgn9fozu0 en-us 2018-03-26 15:45:12 UTC 2024-12-05 13:13:18 UTC hello@padlet.com ksolamendez https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247071307 Fragile X Syndrome is the most common genetic disorder that causes intellectual disabilities. It caused by a gene mutation on the X chromosome (a sex chromosome)]]> 2018-03-28 20:16:45 UTC https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247071307 Symptoms ksolamendez https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247072028 -Mild to severe intellectual disabilities (females often have milder intellectual disabilities)
-Some people might be hyperactive, have attention disorders, and/or be aggressive
-Have poor eye contact, social anxiety, and anxious in new situations
-Display autistic behaviors
-Problems with speech and language (mostly boys)
-Long, narrow face, prominent ears and forehead, flat feet, sunken chest
-gastrointestinal problems
-Seizures
-Flexible joints
-Repetitive movements ]]> 2018-03-28 20:19:33 UTC https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247072028 ksolamendez https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247082658 2018-03-28 21:04:47 UTC https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247082658 ksolamendez https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247082957 Normal X Chromosome Fragile X Chromosome]]> 2018-03-28 21:06:37 UTC https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247082957 How It Is Inherited ksolamendez https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247084722 Since the Fragile X Mental Retardation 1 (FMR1) gene is found on the X chromosome, it is an x-linked disorder passed down on the x chromosome

People who have 55 to 199 repeats of the DNA base CGG on the FMR1 gene are called premutation carriers. More than 200 repeats, the gene turns off. When the gene turns off, no protein is made. Without the protein, a person develops Fragile X Syndrome.
 
-Men who have the premutation pass the affected chromosome to their daughters and they will be carriers, but will not pass the affected chromosome to their sons since the sons only inherit a Y chromosome from the father

-Women who have the premutation will either pass a premutation or a mutation that results in fragile X. She has 50% of passing the affected chromosome down to each of her children. Women who have a full mutation will pass the full mutation to any of her children
 
The fragile X premutation can be passed down silently through generations before a child is born with the syndrome

https://www.youtube.com/watch?v=2QB6nV-IRtQ]]> 2018-03-28 21:16:10 UTC https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247084722 ksolamendez https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247091794 2018-03-28 22:02:41 UTC https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247091794 Population with predispositions to the disease ksolamendez https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247093144 -It affects 1 in 4,000 men
  • Because females have two X chromosomes and males only have one X chromosome, males are more likely to get Fragile x syndrome and women are more likely to be carriers rather than have the syndrome.
-It affects 1 in 6,000 women 
-Occurs in all racial and ethnic groups
]]> 2018-03-28 22:13:58 UTC https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247093144 Treatments ksolamendez https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247097709 While there is no cure, there are treatments that can help minimize the symptoms. Early intervention gives a child a greater chance of developing a full range of skills. Some treatments are:
  • Individualized Educational Plan (IEP)
  • Speech-language therapists
  • Occupational therapists
  • Physical therapists
  • Behavioral therapists
  • No medication that can cure Fragile X, but medications have been used to treat some of the symptoms of Fragile x

There are no side effects except for some medicines for the symptoms that might be addictive
]]> 2018-03-28 22:54:43 UTC https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247097709 Prevention ksolamendez https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247100129 Fragile X Syndrome cannot be prevented, but people with Fragile X in their families can undergo genetic testing to see if they have the gene mutation]]> 2018-03-28 23:17:26 UTC https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247100129 Cited Works Page ksolamendez https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247100341 https://medlineplus.gov/fragilexsyndrome.html

https://www.fraxa.org/fragile-x-syndrome/cause/

https://www.genome.gov/19518828/

https://sites.google.com/site/ellegeneticdisorders/fragile-x-syndrome

http://www.keywordsking.com/ZnJhZ2lsZSB4IHN5bmRyb21l/

http://torresbioclan.pbworks.com/w/page/22377111/Fragile%20X%20Syndrome

https://www.medicinenet.com/fragile_x_syndrome/article.htm#medication_options

]]> 2018-03-28 23:19:47 UTC https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247100341 ksolamendez https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247100665 Fragile X Syndrome]]> 2018-03-28 23:22:47 UTC https://padlet.com/ksolamendez/n71rgn9fozu0/wish/247100665