Fragile+X+syndrome


 * **Who first discovered this disorder? Where, when and under what circumstances was it discovered? ** || * Fragile X Syndrome was first discovered in 1943
 * Martin and Bell showed signs of what was then called mental retardation (known now as Fragile X Syndrome
 * In 1969 Herbert Lubs developed a chromosomal test
 * The test wasn’t used extensively until late 1970’s
 * Finally, in 1991, the FMR1 gene and the mutational basis of Fragile X syndrome was discovered
 * 2001: FXTAS and FXPOI recognized || [[image:https://lh3.googleusercontent.com/C3yV4GH5OBKaou60czS8WO2yowL21PYweC78da9B1e5o5IRhzNTIIdD0mfI1zaD5U60acvj-XHFcznYIjXEQb7DOuyHhihlg9Ow7y1pTOq4g3frzDk15lEGVFtvU-NX-ndrNGDei width="256" height="144"]] ||
 * **What are the symptoms/characteristics associated with this disorder? At what age do the symptoms begin? Are the symptoms treatable? If so, how? Is the disorder fatal? ** || Symptoms for Males:
 * Enlarged ears
 * Long face with a prominent chin
 * Large testicles after puberty
 * Connective Tissue Problems
 * Ear infections
 * Mitral valve prolapse
 * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">Flat feet
 * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">Hyper Flexible fingers and joints
 * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">Variety of skeletal problems

<span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">Symptoms for females:
 * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">Milder conditions (both physical and behavioral)
 * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">About a third of the females have a significant intellectual disability.
 * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">Others may have more moderate or mild learning difficulties.

<span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">Treatment:
 * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">Normally starts by age 2
 * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">Not Fatal
 * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">At this time, there is no cure for Fragile X syndrome.
 * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">Special education, speech, and language therapy, occupational therapy, and behavioral therapies are helpful in addressing many of the behavioral, and cognitive issues in Fragile X syndrome.
 * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">Certain medications may be helpful for aggression, anxiety, hyperactivity and poor attention span. In Fragile
 * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">Seizures, medications are usually very effective in treating the seizures.
 * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">Impact of Fragile X is so different between people, it is important to do a careful evaluation of abilities and difficulties to tailor a treatment plan to address specific needs. || <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">[[image:https://lh6.googleusercontent.com/IO-gaYqFkY_T4-BGpQXj7bi60Ji1lGLlDIQcTUFa3R6bykIg2Xr5GVHvTVLhMaon187GiisvjCSQ6uNHhfVG5PpTeT7I1D7f2F2yrO5nKHQIsLzJFk2zH8RDn3M1o-CoHqJnPuYu width="298" height="334"]] ||
 * **<span style="color: #674ea7; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">What is the inheritance pattern of the disorder: dominant, recessive, sex-linked, autosomal, other? ** || * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">X-linked dominant disorders are caused by mutations in genes on the X chromosome (one of the two sex chromosomes in each cell).
 * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">When a female had two X chromosomes a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder.
 * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">When a male contains one chromosome the mutation in the only copy of the gene in each cell causes the disorder.
 * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">Commonly males experience more severe symptoms of the disorder than females.
 * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons (no male-to-male transmission). || <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">[[image:https://lh6.googleusercontent.com/UdqcndqbEViYqP0xJTsMkBmMru4JgBn3ZEejPh8-Tq32UjIRBkdZfg1Ho6cNaqf4fKZK-4i-DJgFI6JOYL_L8MjwO0pxKtTbZYJ2Vk37rRBSnsg8224KYh9wnmCRMd3KoXaJ1vgb width="298" height="239"]] ||
 * **<span style="color: #674ea7; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">Are there any environmental factors that can affect the symptoms (either aggravate or alleviate)? ** || * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 13pt; vertical-align: baseline;">When the environment is calm and organized the child doesn't have anything to worry about, their behavior will be calmer.


 * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 13pt; vertical-align: baseline;">When the environment is chaotic and there is no rule the child's behavior is more out of control || <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">[[image:https://lh4.googleusercontent.com/8h0usfarXBizAjDUZ1ymJSanRQlaujgQEuUAaK4Bb57TkzgfzDWTmeG_HTCPKIruXNzQ-V6fziYNX7u3L4MwDV9vtPALA-iLDy2Hqdwv9Z0_oREnyoAlKEHk0qMvSrBMzLouHEVQ width="214" height="327"]] ||
 * **<span style="color: #674ea7; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">How common is the disorder? Does it occur more frequently in certain parts of the world or in certain ethnic groups or in one sex? ** || * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">The syndrome occurs in approximately 1 in 36-- males and 1 in 4000 to 6000 in women
 * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">This condition usually occurs in males rather than females || <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">[[image:https://lh5.googleusercontent.com/3xZf4wYoj88ZvqlyBl-lAFELzNNWebeUHSui78wuup92ZL4HsvQ5GL74pzNUKV6Aykusrt_szW3X07IOIhNWNKABjaIU-G6AfjnjNK5oipjnS9Wil7ZNKs8p0tZ0F7CenQ1I3ZOR width="298" height="196"]] ||
 * **<span style="color: #674ea7; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">What tests are done to confirm a diagnosis of this disorder? ** || * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">Between 1970 to 1980 the only test that was available was the chromosome test or the cytogenetic test.
 * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">In the 1990’s scientists identified the FMR1 gene that causes Fragile X Syndrome. An accurate DNA test became available || <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">[[image:https://lh3.googleusercontent.com/KHU1IlfT7Wqw_tOq0hJhBRe-7QcH3EED53gPLWPY0gEW8cSkM2q57WVrZIi8UC9De_YUeEoD6o_nGTnOpTPfkGZKyX-uKtKzW0CE8UGGBPyi0aHqA_cLgyB-uoU8CX_YBYcGaXea width="277" height="133"]] ||
 * **<span style="color: #674ea7; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">Which chromosome(s) is responsible for this disorder? Is it caused by a gene mutation? Which gene is involved? Is it caused by a chromosomal mutation? Which type: nondisjunction, deletion, inversion, etc.? ** || * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 13pt; vertical-align: baseline;">There is a chromosome responsible for the disorder (which is X) but this condition is a gene mutation rather than a chromosomal mutation.

<span style="color: #1155cc; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">[] <span style="color: #1155cc; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">[] <span style="color: #1155cc; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">[] <span style="color: #1155cc; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">[] <span style="color: #1155cc; font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">[]
 * <span style="color: #c27ba0; font-family: &#39;Times New Roman&#39;; font-size: 13pt; vertical-align: baseline;">The gene mutation is: the duplication of the gene FMR1 on the X chromosome ||  ||
 * || [[image:luthe7.jpg width="480" height="360"]] ||  ||
 * <span style="font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">Sources: **
 * <span style="font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">Sources: **