{"id":4999,"date":"2019-03-20T05:45:28","date_gmt":"2019-03-20T05:45:28","guid":{"rendered":"https:\/\/simplyhealth.io\/?p=4999"},"modified":"2021-05-28T17:38:08","modified_gmt":"2021-05-28T17:38:08","slug":"16-possible-symptoms-of-fragile-x-syndrome","status":"publish","type":"post","link":"https:\/\/simplyhealth.io\/16-possible-symptoms-of-fragile-x-syndrome\/","title":{"rendered":"16 Possible Symptoms of Fragile X Syndrome"},"content":{"rendered":"\n
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Fragile X Syndrome is a rare genetic disorder that occurs in approximately 1 out of every 10, 000 births, and it\u2019s very possible that you might never have heard of before, but there\u2019s a good reason why you should get to know the condition.
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This is especially true if you happen to be a teacher, professional caregiver or nurse who works with children who might have the syndrome in a professional environment; the same is true if you are a parent, and have any potential family history of Fragile X syndrome somewhere in your family tree.
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There\u2019s no cure for the condition, but with the right approach it can be successfully managed with a quality of life that\u2019s as close to normal as possible; a doctor can make the best recommendations for lifestyle adaptations.
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Here are 8 possible symptoms of Fragile X syndrome that you should be on the lookout for.
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1. Symptoms of Autism<\/strong>
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Even though autism <\/a>is considered to be a separate condition by itself, it can often be seen accompanying cases of Fragile X syndrome. Many people who are diagnosed with Fragile X syndrome are often on the autism spectrum too, which means that they have autism of some or other sort measured on the official scale \u2013 on this scale, certain forms of autism are different to (or more severe than) others.
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Autism is characterized by social behavior, and people who are on the autism spectrum often do not naturally respond to social cues and situations in the same way that everyone does \u2013 and this might be perceived as strange or abrasive by anyone else, but is actually just another manifesting symptom of autism that a lot of cases share.
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In addition to this, people on the spectrum also tend to display fixating interest in their hobbies or a certain chosen subject.
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2. Speech Disorders<\/strong>
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Fragile X Syndrome can often be characterized by different types of speech disorders, and part of this is due to the way in which fragile X syndrome can affect the brain. Children who are born with Fragile X syndrome are far more prone to develop what\u2019s known as delayed speech syndrome, a specific type of speech disorder<\/a> that means the onset of speech is a little later in life than it would have been in normal development without the condition.
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Delayed speech can act as one of the first symptoms to look for in Fragile X, and people or children who have been diagnosed will often start speaking much later on than the average age \u2013 this is the point where most parents would refer to a mental health or speech expert, who can examine the individual case better in order to spot if there\u2019s a chance of Fragile X syndrome.
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3. Learning Disabilities<\/strong>
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Learning disabilities are one of the most common symptoms that people who were born with Fragile X syndrome will experience, and it can often be the symptom of the condition that leads to its diagnosis<\/a>; in the majority of cases where learning difficulties are picked up at a young age, a teacher or caregiver will most often recommend that a further course of action be taken to discover what the potential causes of the learning disabilities might be.
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In a lot of cases, especially when combined with some characteristic symptoms that appear on this list, it can be matched up with a case of Fragile X. If this is the case, a cure isn\u2019t possible \u2013 but some many changes can be made to improve the quality of life, and in many cases any learning disabilities can be addressed as a separate concern, and treated accordingly for the best possible results.
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4. Seizures<\/strong>
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Seizures <\/a>are sometimes common in cases where Fragile X syndrome has been diagnosed, although it doesn\u2019t happen to everyone who has the condition. According to official statistics, seizures only occur in about 15% of cases, and is more prevalent in men who have been diagnosed with the condition rather than women \u2013 and again, repetitive seizures are one of the potential symptoms that can lead to a proper diagnosis of the syndrome when the further cause of the seizures are investigated by a doctor.
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During your doctor\u2019s appointment, mention any symptoms that you might have experienced along with the potential of seizures; properly described, a list of other symptoms can be a big help to your doctor when they are trying to make a diagnosis.
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Seizures can be managed as a separate condition with medication, and sometimes with the ketogenic diet when talking about cases where medication wasn\u2019t an effective treatment.
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5. Macroorchidism<\/strong>
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Macroorchidism <\/a>is one of the most common potential symptoms of Fragile X, and it occurs in almost all male cases; even though the name is something that the majority of people outside the medical profession will never have heard of, it refers to larger testicles which is characteristic of the disorder.
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There are a couple of other things that can potentially cause enlargement of the testicles, and in some cases a doctor might potentially want to rule out these causes (such as the potential of testicular cancer or trauma to the testicles) before they assume that Fragile X syndrome might be the cause.
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Usually, when looking to diagnose the condition, a doctor will consider a combination of different symptoms \u2013 and match up several of them in combination with one another when looking for Fragile X; these symptoms can be very characteristic of the condition, such as a longer facial structure.
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6. Flat Feet<\/strong>
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Flat feet are one of the potential symptoms that could point to a diagnosis of Fragile X syndrome, especially if it can be combined with any other symptoms on this list (and some that aren\u2019t) which are characteristic of someone diagnosed with the disorder, such as hyperactivity<\/a>, flexibility and some signs that may mirror some conditions on the autism spectrum where autism might be part of the individual disorder.
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In short, flat foot is a condition whereby the arc of the bottom of the foot never develops properly, and it can lead to things like a characteristic gait, a shortened Achilles tendon and a considerable amount of pain or difficulty walking if the condition is never treated.
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It\u2019s an easy symptom to treat, and flat feet can usually benefit from specially designed orthopedic shoes \u2013 or just simple inserts that allow the bridge of the foot to develop itself over time.
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7. Hyperflexible Digits<\/strong>
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Hyper flexibility (also sometimes called hypermobility) of the hands and fingers can be a common symptom associated with Fragile X, and if it offers together with the characteristic physical and mental symptoms of the disorder it can certainly warrant a further look by a medical professional who can do the right tests to establish the truth with a few simple tests.
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Because hypermobility involves the over-extension of the joints, muscles, and tendons <\/a>holding everything together, people diagnosed with any condition that causes it (which is much more varied than just Fragile X) \u00a0should be extremely careful to avoid straining the body and the muscles because it can lead to sprains, tears and other injuries a lot easier than in people who don\u2019t have the same condition.
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Sometimes a symptom like hypermobility can also be accompanied by arthritis, although this isn\u2019t always the case, and should be assessed individually by a professional.
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8. Hyperactivity<\/strong>
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Hyperactivity is a condition that can be caused by many different things and might occur as a sign or symptom of many other different conditions that aren\u2019t Fragile X. More care should be taken if hyperactivity were to present with any of the possible symptoms of the disorder, and this is the point where you should make an appointment with a medical professional to discuss the possible treatment options forward.
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Hyperactivity is managed as a separate health condition and usually brought under control either with medication <\/a>or with a few lifestyles and diet changes combined with coping mechanisms that therapeutically teach those with hyperactivity methods on how to live with being hyperactive.
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Even though Fragile X syndrome isn\u2019t a condition that can be cured, a great deal of the symptoms that occur as a result of Fragile X can be successfully managed \u2013 including most of the symptoms on this list. <\/p>\n\n\n\n\n\n\n\n

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9. Intellectual Disability<\/strong>
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As well as generalized learning difficulties, those suffering from Fragile X will exhibit generally low IQ, with the average in males being approximately 40. To understand IQ<\/a>, it is useful to remember that the value \u2018100\u2019 is based on the average score for the given test. Therefore, an intelligence quotient of 40, suggests that the individual performs worse than 60% of the population. \u00a0It is also thought that intelligence will gradually reduce over time. <\/p>\n\n\n\n

Fragile X may cause children to demonstrate impairments in their memory, in particular, their working memory. The working memory is the \u2018visuospatial scratchpad\u2019 that we use in order to store words, numbers, and images that we are currently working with. For instance, you might use this faculty in order to remember a phone number in order to write it down or the positions of players on a football pitch. As those with Fragile X reach their 40s, they see further impairment in their working memories which can lead to difficulties completing everyday tasks and activities. <\/p>\n\n\n\n

It is important to try and intervene in the condition as early as possible. This way, it might be possible to help encourage the development of a normal and full skill set. For instance, special education, speech therapy, behavioral therapy, and physical therapy can all help.
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10. Repetitive Behavior<\/strong>
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Repetitive behavior <\/a>is a common symptom of Fragile X, as well as being a common symptom of autism \u2013 which we have seen will often occur alongside Fragile X. Repetitive behavior can take many forms and might be seen as repetitive movement, or a requirement for certain routines and rituals to be carried out on a regular basis. This may be linked with hypersensitive and hyperarousal, which can make novel experiences and changes overwhelming for children. In some cases, behavioral therapy has been found to be effective in treating these symptoms.<\/p>\n\n\n\n

Eventually, repetitive behavior might develop into obsessive-compulsive disorder, which is characterized by a compulsive need to carry out certain tasks that can distract from everyday activities and be restrictive. Some people will wash their hands repeatedly until they cause their skin to break, others might need to turn a light switch on and off before leaving the house. Common in cases of Fragile X particularly are self-talk and using different pitches when speaking. This can be called \u2018cluttered speech\u2019.<\/p>\n\n\n\n\n\n\n\n

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11. Mood Disorder<\/strong>
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Mood disorders are common in those with Fragile X. Anxiety is often observed, which may relate to social phobia or OCD. However, mood disorders can also include aggression in some cases and sudden mood swings<\/a>. <\/p>\n\n\n\n

Anxiety may be linked with increases in the activity of the prefrontal regions of the brain. It is common for this to lead to panic attacks in many individuals. A panic attack is essentially an exaggerated stress response, characterized by an elevated heart rate, increased blood pressure, racing thoughts, shaking, rapid breathing, and potential loss of consciousness due to rapid increase of oxygen. It is important to help someone experiencing a panic attack to remain calm by distracting them with normal activities \u2013 and away from the symptoms of the panic attack itself.
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12. Long Face<\/strong>
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Children with Fragile X will often exhibit a unique physical phenotype including a long face (called vertical maxillary excess), large and protruding ears, a high arched palate as a result of the maxillary excess, hyperextensible finger joints (meaning highly flexible), flat feet, soft skin, and hypotonia (low muscle tone).<\/p>\n\n\n\n

Due in part to changes in the bone structure of the face, another symptom that affects some children with Fragile X is strabismus. This is the appearance of crossed eyes, which may require surgery <\/a>in order to fix. In many cases, however, this issue is purely aesthetic with the brain being capable of aligning the information.<\/p>\n\n\n\n

These changes occur as a result of the insufficient production of FMRP (fragile X mental retardation protein), which is required to aid with the development of connections between neurons.
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13. Infertility<\/strong><\/h3>\n\n\n\n

Fertility <\/a>changes are observed in roughly 20% of women carrying the Fragile X permutation. They will be more likely to experience X-related primary ovarian insufficiency, which is defined as menopause that occurs before the age of 40. This can cause changes to hormones which will result in physical changes to the secondary sex characteristics. However, this is most common in permutation carriers rather than women who have the full mutation themselves. For permutations with more than 100 repeats, this likelihood also decreases. <\/p>\n\n\n\n

In some cases, those with FXPOI Fragile X related premature ovarian insufficiency, will exhibit symptoms of early menopause but will still be able to get pregnant as they will continue to release viable eggs.
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14. Social Anxiety<\/strong><\/h3>\n\n\n\n

Social anxiety is common with those experience FXS and this will often occur alongside poor interpersonal skills and communication. This social anxiety is one of the most common features in those even without co-occurring autism<\/a>. It may lead to poor eye contact during conversation, gaze aversion, and a general avoidance of social situations. <\/p>\n\n\n\n

This can also lead to difficulties forming relationships with peers and members of the opposite sex. That said, it has also been observed that those with Fragile X actually show more interest <\/em>in social anxieties than with many similar conditions. In some cases, this might classify as a social phobia.
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15. Theory of Mind<\/strong><\/h3>\n\n\n\n

Children with Fragile X and autism will often exhibit a delayed \u2018theory of mind\u2019. This means that they will struggle to understand what others might be thinking. Psychologists <\/a>can test for this using a number of specific methods, including the \u2018Sally Anne Test\u2019. Here, children will observe a scene where one character witnesses something happening, and will then be asked what they understand of the situation. A child with no theory of mind won\u2019t be able to grasp what the character\u2019s understanding of the situation might be different from their own.<\/p>\n\n\n\n

This can exacerbate feelings of social phobia and social anxiety and may make everyday interactions difficult and frustrating for those with the condition.
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16. Tremor\/Ataxia<\/strong><\/h3>\n\n\n\n

Tremors <\/a>and ataxia symptoms are also common in those with Fragile X. This also increases the likelihood of other related conditions developing later in life, such as mood disorders, anxiety disorders, and dementia. <\/p>\n\n\n\n

Ataxia is a generalized loss of coordination and muscle control, which can result in difficulty moving the limbs correctly or using fine motor control. This, in turn, can result in \u2018perceived clumsiness\u2019 or may make everyday tasks difficult and may lead to frustration and irritability. This can further lead to feelings of anxiety, mood swings, and aggression.<\/p>\n\n\n\n

The reason for this loss of control is linked to ill-formed connections in the motor cortex and other key areas of the brain relating to movement and control.
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