Fragile X Syndrome (cont.)
In this Article
- Fragile X syndrome facts*
- What is Fragile X syndrome?
- What causes Fragile X syndrome?
- What keeps the FMR1 gene from producing FMRP in Fragile X syndrome?
- Human cells 101
- How many people are affected by Fragile X syndrome?
- How is Fragile X syndrome inherited?
- What are the signs and symptoms of Fragile X syndrome?
- Intelligence and learning
- Social and emotional
- Speech and language
- Is there a cure for Fragile X syndrome?
- Are there treatments for Fragile X syndrome?
- Educational options
- Therapeutic options
- Medication options
- What are the options for adults who have Fragile X syndrome?
- What should I do if I find out someone in my family has Fragile X syndrome?
- What is being done to develop treatments or a cure for Fragile X syndrome?
- Where can I go for more information about Fragile X syndrome?
Many children with Fragile X are sensitive to certain sensations.
Disorders commonly associated or sharing features with Fragile X
Autism. Most males and about one-third of females with Fragile X show some autism-like behaviors, such as flapping hands, biting themselves, repetitious actions, and walking on toes.14 About 33% of children with Fragile X show enough of these behaviors to receive a formal diagnosis of autism.15 However, among people diagnosed with autism first, only about 4 percent are found to have an X chromosome with the FMR1 gene mutation.
Attention Deficit Disorder (ADD)/Attention Deficit Hyperactivity Disorder (ADHD). Between 80 and 90 percent of males, and 35 to 47 percent of females with Fragile X have an attention disorder.16,17 They are unable to focus their attention and stay with a task. They may be disorganized. Some are hyperactive and seem to be constantly in motion.
Connective Tissue Problems. Due to weak connective tissue, people with Fragile X have a higher risk of dislocating their joints and developing hernias and ear infections than those who aren't affected by Fragile X. About half of adults with Fragile X have a heart murmur caused by mitral valve prolapse,17 which is usually not life threatening.
Seizures. About 20%6 of children with Fragile X also experience seizures. In most cases, seizures are successfully treated with medication and disappear by adolescence.
Premature Ovarian Failure (POF). POF occurs when a woman's ovaries stop working properly and she is under the age of 40. As mentioned earlier in this article, about 16 to 19 percent of females who carry a premutation gene for Fragile X experience POF, some as early as age 20.10,11 Women with a full mutation gene for Fragile X are less likely to have POF, but do tend to go through menopause earlier than women who do not carry a mutated gene.
They may become frantic at the sound of a loud noise or may be easily distracted by slight sounds in the room. They may be bothered by the texture of their clothes against their skin, or they may be unable to focus on the parts of their environment that are important, such as the sound of the teacher's voice. Infants with Fragile X may have problems drinking from a bottle, perhaps because the feel of the nipple upsets them. Some children try to avoid being touched, and even a brief tickle or hug may be overwhelming. Even though many of these symptoms are often life-long, most people affected by Fragile X, with the proper intervention, can find ways to handle or avoid the discomfort. (See the Are there treatments for Fragile X syndrome? section for more information.)
Children with Fragile X may also have problems with balance. A sense of balance helps keep the body upright and stable. Problems with balance, coordination, and connective tissue can cause difficulties for children with Fragile X as they learn to sit, stand, and walk, or later, to ride a bike. Even so, most children with Fragile X learn to do these tasks.
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