Fragile X Syndrome by Clarissa Molina https://padlet.com/clarissamolina22/lx28auy9mz4wn99y Biology 101 Clarissa Molina & Jane Ballard en-us 2023-03-04 07:41:33 UTC 2023-03-08 05:14:13 UTC hello@padlet.com Name of disorder and any nicknames (Ex: Trisomy 21 aka Down’s Syndrome) clarissamolina22 https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2503339114 Disorder: fragile X syndrome 
Nicknames: Martin-Bell syndrome ]]> 2023-03-04 07:56:06 UTC https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2503339114 What causes the disorder and what gene or chromosome is affected? clarissamolina22 https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2503341278 FXS is caused by changes in a gene which is called Fragile X Messenger Ribonucleoprotein 1 (FMR1) meaning that a person with FXS has not produced a protein that is needed for brain development. ]]> 2023-03-04 08:00:44 UTC https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2503341278 Are there prenatal tests for this disorder? If so, how are they tested? clarissamolina22 https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2503343899 Prenatal testing can be performed by amniocentesis at 16 to 20 weeks or by chorionic villus sampling (CVS) at 10 to 13 weeks to determine if a fetus have inherited the fragile x gene. These testings are performed by testing the mothers DNA from a blood test. ]]> 2023-03-04 08:09:13 UTC https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2503343899 How is the disorder diagnosed clarissamolina22 https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2503344983 FXS is diagnosed by testing a persons DNA from a blood test. ]]> 2023-03-04 08:11:43 UTC https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2503344983 How does a person get this disorder? (Mutation or inherited?) clarissamolina22 https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2503345395 FXS can be passed down from parents to children through genes. ]]> 2023-03-04 08:13:09 UTC https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2503345395 What are the symptoms or effects on the individual with this disorder? Be specific and detailed. clarissamolina22 https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2503346441 A persons behavior can change when they have FXS. They can get aggressive, hyperactive, impulsive, repetitive movements and words, delay in talking. They can have flaccid muscles and problems with coordination. As well as shaky hands and balance problems. ]]> 2023-03-04 08:16:28 UTC https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2503346441 Sources Used: clarissamolina22 https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2503348594 https://www.cdc.gov/ncbddd/fxs/facts.html

https://www.genomemedical.com/genetic-testing-pregnancy/fragile-x-carrier-pregnancy/

https://fragilex.org/understanding-fragile-x/fragile-x-101/prevalence/

https://www.mdpi.com/2073-4425/13/9/1654 

https://www.fraxa.org/fragile-x-research/

https://ourfragilexworld.org/resources-for-families]]> 2023-03-04 08:21:33 UTC https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2503348594 Which population is affected? (males, females, certain ethnicities, etc?) JaneB03 https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2504439985 FXS is more prevalent in men than women but can effect both. In men it is prevalent 1 in 4,000/ 7,000 men, and in women it is prevalent in 1 in 6,000/ 11,000 women. ]]> 2023-03-06 02:52:40 UTC https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2504439985 Are there any treatment or cures? JaneB03 https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2504447757 There are no cures for FXS. But treatments can be therapy to improve walking, speaking, etc, skills. Medication can also be used to help with behavior problems as well as some others on a case-by-case basis.]]> 2023-03-06 02:57:52 UTC https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2504447757 What is the long-term outlook for an individual with this disorder? JaneB03 https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2504459538 Most likely individuals with FXS will have to have caregivers whether that's with a family member or a trained professional to help them though their everyday lives. ]]> 2023-03-06 03:08:03 UTC https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2504459538 What is the current status of research on this disorder? JaneB03 https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2504484558 Currently, the research being done for FXS includes gene therapy/ protein replacement. They are going to continue to invest in technologies that could lead to a cure. Other research being done is targeted translation research which is showing promise in treating FXS. They are also doing clinical trials to accelerate the development of the drugs being tested, which also shows lots of promise.]]> 2023-03-06 03:32:29 UTC https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2504484558 Information on support groups (if available) JaneB03 https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2504490969 There are many support groups for people with or family/ friends of people with FXS. Some include National Fragile X Foundation, FRAXA Research Foundation, The Mighty, etc. There are also groups on FaceBook. ]]> 2023-03-06 03:38:43 UTC https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2504490969 clarissamolina22 https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2508061500 2023-03-08 05:12:44 UTC https://padlet.com/clarissamolina22/lx28auy9mz4wn99y/wish/2508061500