According to MedicineNet.com, Fragile X syndrome is the most common form of mental retardation that is inherited. It is a result of a mutation of one gene that can be passed on generation to generation. Fragile X syndrome can be seen in people of all ethnic groups and income levels; it is not more prominent in one group than another.
In Fragile X syndrome, the mutated gene cannot produce enough of a certain protein that the cells in the body need to develop and function normally, especially in the brain cells. The amount of this protein and it usability contribute to the severity of the effects of Fragile X syndrome.
The effect of Fragile X syndrome on a person’s intelligence is the most consistent and noticeable effect of Fragile X syndrome. According to the National Fragile X Foundation, more than 80 percent of males with this syndrome have an IQ of 75 or less. Some females may have mental impairment, some learning disabilities, and some have a normal IQ.
People who have Fragile X syndrome have common characteristics and medical problems.according to the National Fragile X Foundation. Physical characteristics are large ears and a long face. Problems with sensation, emotions, and overall behavior are common medical problems.
Research done by The National Institute of Child Health and Human Development, has shown that the gene that causes Fragile X syndrome is carried on the X chromosome. Both men and women have the X chromosome, and one, the other, or both parents can pass the mutated gene on to the children. A man who has the mutated gene can only pass it on to his daughters because only his Y chromosome is passed on to his sons. A woman can pass it on to either a boy or a girl.
If the father has the mutated gene, but the mother does not, only the girls born to them will have the mutated gene. If both parents and only the mother have the mutated gene, it is possible that both boys and girls born to them will also have the mutated gene.
It is also possible that the mutated gene is not passed on at all. Unless genetic testing is done while the mother is pregnant, the parents would not know whether or not their child has the mutated gene unless the child shows signs and symptoms of Fragile X syndrome that prompt genetic testing later on in life.
People who have Fragile X syndrome do not always show the same signs and symptoms. Some may have a smaller degree of signs and symptoms than others. This applies even to children in the same family who have the mutated gene. They do, however; have a few things in common. Everyone with Fragile X syndrome has too little of the protein called FMRP that is needed for the body’s cells to develop and function properly. People affected by Fragile X syndrome also share a pattern of specific characteristics, including physical characteristics, social characteristics, mental characteristics, and sensory characteristics. In general, signs and symptoms of Fragile X syndrome fall into five different categories; intelligence and learning, physical, social and emotional, speech and language, sensory, and disorders that are associated with or share features of Fragile X syndrome.
In the first category, intelligence and learning, people with Fragile X syndrome have impaired intellectual functioning. This affects their ability to think, reason, and learn. An IQ test is used to measure intellectual functioning. A score of 85 to 127 on an IQ test is considered to be average. In males with Fragile X syndrome, most will score below 85. In females with Fragile X syndrome an IQ test score of normal ranges is common is two-thirds of those affected. An IQ test is not definitive in measuring a person with Fragile X syndrome’s capabilities because these people also commonly have attention disorders, hyperactivity, anxiety, and language processing problems that can all interfere with the ability to take the IQ test.
When given an IQ test, both genders show specific strengths and weaknesses. People with Fragile X syndrome tend to have good memories when it comes to pictures or visual patterns. This helps them to follow directions that are given in picture form, and to learn to recognize letters, numbers, and words. The main weaknesses that are displayed involve thinking about abstract ideas, organizing information, problem solving, and planning ahead. No matter what an IQ test score shows, all people with Fragile X syndrome are capable of learning. Most children who have Fragile X syndrome can progress in school and learn basic academic skills. Most adults with Fragile X syndrome are capable of learning how to take care of themselves and hold a job. These people all more time to learn. Many need special methods of teaching, or an environment tailored to their needs to help them reach their potential, but they do normally make steady progress in learning.
In the second category, physical, there may be certain characteristics. In an infant with Fragile X syndrome, there may be no distinctive characteristics, but some young children have very soft skin, a broad forehead, or a slightly larger head than other children their age. As these children enter puberty, around the age of 11, certain characteristics may develop that are very typical of people with Fragile x syndrome. They may have a longer face or jaw, and their ears may be larger and more prominent. Commonly, they do not grow as tall as other people their age, or as tall as you might expect them to grow based on family history.
For boys with Fragile X syndrome, the development of enlarged testicles is common. The testicles may actually grow to twice their normal size. This condition is known as macro-orchidism. It is not caused by a hormonal imbalance and does not affect the person’s sexual development.
For girls with Fragile X syndrome, ovarian failure before normal menopause is common. Some girls experience this as young as their mid-twenties. This means that a girl with Fragile X syndrome may be unable to have children after they reach their mid-twenties.
Many people affected with Fragile X syndrome have loose skin and very flexible joints. They may have flat feet and be able to extend joints such as their elbow or thumb much farther than normal. Because they have weaker connective tissue in their body, people with Fragile X syndrome can easily have medical conditions such as middle ear infections and hernias. Heart murmurs are also common, but they normally do not pose a problem, and is not life-threatening.
Later on in life, people with Fragile X syndrome may develop problems walking and hand tremors. This is largely determined by the amount of gene mutation there is.
In the third category, social and emotional, there may be a great deal of social anxiety. This is more common among those males that are affected with Fragile X syndrome. They are not completely comfortable with new situations, activities, or people. At times, the anxiety level can be high enough that they avoid those things all together. The anxiety may present itself by lack of eye contact, or fast, choppy speech.
Males with Fragile X syndrome tend to upset easily, and are easily overwhelmed with sights and sounds. They become upset in a busy store or crowded area. They also become upset when there is a change to their normal routine. Some become rigid and tense, while others cry. There are times when they react by throwing a tantrum or displaying repetitive actions such as pacing, or rocking back and forth. When they reach puberty, their outbursts seem more extreme, often being displayed through anger and aggression, and getting them into trouble at school. Providing a calm environment, and using medication may help these outbursts. Males with Fragile X syndrome do not calm down as easily as other males their age. It may take them quite a while to relax.
Females with Fragile X syndrome also have similar social problems, but their problems are not normally as severe. They will commonly feel uneasy around people they do not know, or have trouble making friends, but they do not have the tendencies to become aggressive.
In the fourth category, speech and language, the difficulties range from very mild to severe. People with Fragile X syndrome may stutter, have trouble saying words correctly, have problems with speaking clearly, have problems writing or using words and grammar correctly, and/or have trouble communicating in a meaningful way.
Females who have Fragile X syndrome rarely have any severe problems with speech or language. Many have age appropriate skills, but because they are shy, they may have trouble communicating correctly with others. Some females with Fragile X syndrome will speak in a rambling, disorganized way. They commonly wander from subject to subject while trying to communicate. Most females with this syndrome have difficulty in expressing themselves.
Males with Fragile X syndrome commonly have trouble putting words together, using the correct tone of voice, pitch, or volume, and also movements that are needed for clear speech. Often, these males have trouble receiving and processing verbal information. They have trouble understanding spoken instructions, storing words and concepts that they may need for future use, and trouble creating meaningful responses. Males will often stutter or leave sounds out of words when they are speaking. They may repeat themselves, restart the same statement or question multiple times, talk too fast, mumble, or speak very loud. Some of these signs are thought to be caused by sensory overload, rather than problems with speech. Many males with Fragile X syndrome will often speak out of turn, fail to answer a question, or turn away because they do not know what to do or how to respond. These males want to communicate, but have a hard time holding a conversation.
For some children with Fragile X syndrome, language problems are more severe. It is common for these children to start talking later than is expected, most beginning to use words around age four, but some, not until age six to eight. Occasionally, a person with Fragile X syndrome will not talk all of their life. For these people, pictures and other forms of nonverbal communication are used to help them learn and communicate. Sign-language and gesturing are both common forms of nonverbal communication used.
In the fifth category, sensory, certain situations or sensations really bother a person with Fragile X syndrome. Some become very frantic when they hear a loud noise, some are easily distracted by even the slightest of sounds in a room. Some are bothered by the way clothing feels on their skin. Some have trouble focusing on things such as a teacher’s voice, or parent’s voice. Infants with Fragile X syndrome may have trouble drinking out of a bottle. It is thought that the way the nipple feels in their mouth upsets them. Some children will avoid being touched and even a little hug may greatly upset them. Many of these symptoms last the person’s entire life, but with treatment and intervention, they can be managed or even overcome.
Trouble with balance is common among children with Fragile X syndrome. They have trouble with their sense of balance, therefore; have trouble sitting, standing, walking, and general coordination. This may be in part due to problems with their connective tissues.
Currently, there is no cure for Fragile X syndrome. There is not a specific treatment either, but there are ways to minimize the symptoms. To optimize their capabilities and skills, it is important for a child with Fragile X syndrome to have appropriate education, behavioral therapy, physical therapy, and medication. Even those who have the most severe mental retardation are capable of learning many self-help skills. Early intervention is the key to maximize potential. The earlier in life that Fragile X syndrome is diagnosed, the sooner a person can get help to grow and develop to their full potential. Although early diagnosis and treatment is best, people with Fragile X syndrome will benefit from being helped at any age.
Fragile X syndrome is a genetic disorder. It is caused by a gene mutation that can be passed on by either parent on the X chromosome. It causes the mutated gene to not be able to produce enough usable protein to the cells in the body, especially the brain. There are some common factors among those affected by Fragile X syndrome, but signs and symptoms can be quite different from person to person, even those in the same family. It can only be positively diagnosed through genetic testing. Early diagnosis is the key to helping those affected to reach their maximum potential in life. Currently, there is no cure for Fragile X syndrome.
Information in this article was obtained through MedicineNet.com at http://www.medicinenet.com.
Information was also obtained from http://www.fragilex.org.
