Fragile X
- 2. DEFINITION An inherited condition characterized by an X chromosome that is abnormally prone to damage, especially by folic acid deficiency. Affected individuals tend to be mentally handicapped. https://www.google.com/?gws_rd=ssl#q=define+fragile+x+syndrome&spf=1496149001028
- 3. SYMPTOMS ointellectual disabilities, ranging from mild to severe oattention deficit and hyperactivity, especially in young children oanxiety and unstable mood oautistic behaviors, such as hand-flapping and not making eye contact osensory integration problems, such as hypersensitivity to loud noises or bright lights ospeech delay, with expressive language more severely affected than receptive language oseizures (epilepsy) affect about 25% of people with Fragile X syndrome
- 4. CONTINUED… Physical signs: olong face, large prominent ears, flat feet ohyperextensible joints, especially fingers olow muscle tone omales may have large testes after puberty https://www.fraxa.org/fragile-x-syndrome/symptoms/
- 5. FACTS oMore likely for boys to have it then girls oYou may also not know that you are carrying this defect until it gets passed along oNormally, this gene contains a stretch of DNA? in which a three base? sequence (CGG) is repeated up to about 30 times in a row. oIn people with Fragile-X syndrome this three base sequence of DNA is repeated over 200 times. This abnormal repetition of bases creates the microscopic appearance of a gap on the long arm of the X chromosome (see illustration below), hence the name, ‘fragile’-X syndrome.
- 6. CONTINUED… oThe FMR1 gene is responsible for providing instructions for making ‘Fragile-X mental retardation 1 protein’ (FMRP). oThis protein is required for the brain to develop normally. It plays a role in the development of synapses, specialized connections between our nerve cells which are critical for relaying nerve impulses. oThe Fragile-X mutation results in an FMR1 gene that is switched off, which means that FMRP is no longer produced, preventing normal neuronal development http://www.yourgenome.org/facts/what-is-fragile-x-syndrome
- 7. CAUSES & TREATMENTS oGenetics oAppropriate education oMedications oTherapy oCan only minimize the symptoms for a little while https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/treatments.aspx