Fragile X Syndrome : Speech and Language, Sensory Symptoms

by National Institute of Health

(Page 5 of 9)

Speech and language

Language difficulties in children who have Fragile X range from mild stuttering to more severe problems with basic language skills. Basic language skills include the ability to pronounce words clearly, to speak and write using words and grammar correctly, and to communicate in meaningful ways.

Females with Fragile X rarely have severe problems with speech or language. In fact, many have vocabulary and grammar skills that are appropriate for their age, which can help them learn to read and write. However, their social anxiety and shyness may get in the way of communication. Some females with Fragile X speak in a rambling, disorganized way or often get off the subject. Most males with Fragile X have more serious problems expressing themselves. These difficulties typically include problems speaking clearly and other problems with language that can be moderate to severe. In terms of speech, males with Fragile X often have problems coordinating the structures, vocal processes (such as pitch, loudness, and tone), and movements needed for clear speech. They often have difficulty receiving and processing spoken information, such as following spoken directions, storing words and concepts for future use, and creating their own meaningful responses to questions or comments.

Males with Fragile X may stutter or leave sounds out of their words. Many repeat themselves, restart the same sentence many times, or ask the same question again and again. Some may talk too fast, mumble, or speak in a loud, high voice. Some of these difficulties may be due to sensory overload or social anxiety, rather than a problem with the parts of the brain that control speech and language.

Perhaps most importantly, males with Fragile X usually have difficulty using speech and language in social contexts. They often seem unaware of conversational "clues," such as facial expressions, tone of voice, and body language. As a result, they may speak out of turn, fail to answer a question, or turn away because they aren't sure what to do. Unlike males with other developmental disorders, like autism, males with Fragile X seem to be very interested in communicating, but may experience sensory overload or social overload when they try to hold a conversation.

For some children, language problems are more severe. Many children with Fragile X begin talking later than expected. Most begin using words around age four, but some may not talk until age of six or eight.6 Most talk eventually, but some may remain nonverbal throughout life. For these nonverbal children, a wide variety of picture-based and computer-based devices may help them to communicate, which could also reduce behavior difficulties that result from not being able to talk. Pictures, sign language, and generic gestures can also be helpful for all children with Fragile X, before they start talking.

Sensory

Many children with Fragile X are sensitive to certain sensations. 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.

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.

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. About 33 percent of children with Fragile X show enough of these behaviors to receive a formal diagnosis of autism. 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. 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, which is usually not life threatening.

Seizures. About 20 percent6 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 booklet, about 16 to 19 percent of females who carry a premutation gene for Fragile X experience POF, some as early as age 20. 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.

About the Author

NIH is the nation's medical research agency - making important medical discoveries that improve health and save lives. The National Institutes of Health (NIH), a part of the U.S. Department of Health and Human Services, is the primary Federal agency for conducting and supporting medical research.