MyMedExpert Health Articles

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 percent 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.

Source: National Institute of Child Health and Human Development, NIH, DHHS

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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. (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.
 

Source: National Institute of Child Health and Human Development, NIH, DHHS

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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.
 

Source: National Institute of Child Health and Human Development, NIH, DHHS

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Physical
Many infants and young children with Fragile X have no distinctive physical features. Some children have very soft, velvety skin, a broad forehead, or a slightly larger head than other children their age.

However, when these children enter puberty, usually around age 11, they may begin to develop certain features that are typical of teens and adults with Fragile X, such as a longer face or jaw and larger, more noticeable ears. Most do not grow as tall as their peers, or as tall as one might expect them to grow, based on the height of their family members.
Other physical changes also come with puberty for those who have Fragile X. Many males develop enlarged testicles, a condition called macro-orchidism (pronounced mack-roe-ORK-id-izm). With this condition, the testicles may grow to twice their normal size. This condition is not due to hormonal imbalance and does not affect sexual development.

One job of FMRP may be to help the body maintain its connective tissues. Connective tissues support the body, inside and out. Many people with Fragile X have loose, flexible joints. They may have flat feet and be able to extend joints like the thumb, knee, and elbow further than normal. Weak connective tissue can predispose a person to certain medical conditions, such as hernia and frequent middle ear infections. Weak connective tissue can also affect the valves and vessels of the heart, so that blood in the heart may not flow smoothly, which creates a heart murmur (called mitral valve prolapse, pronounced my-trell valv proh lapss). Although it involves the heart, this condition is usually not life threatening, but it is a good idea for a person with a heart murmur to be monitored by a health care professional on a regular basis.

Late in life, some males who have a premutation may develop hand tremors10 and problems with walking.

How does Fragile X affect the brain?
 
 
Understanding how Fragile X affects the brain and learning what role FMRP plays in normal brain development and function are areas of active research. For instance, some evidence suggests that FMRP is involved in forming pathways in the brain.

Normally, brain cells called neurons have special areas that grow toward each other to form connections. These connections, called “synapses,” are arranged in neural pathways. Thoughts, sounds, and memories are recorded and stored in these pathways. However, not every experience recorded in these neural pathways is useful or needs to be kept throughout life. So, as part of normal development, the brain “prunes” itself. Like pruning the branches of a tree, removing unneeded or ineffective pathways in the brain strengthens other pathways and makes room for new growth and new learning.  FMRP may somehow influence the pruning process in the brain. People without enough FMRP may have may have too many neural pathways or many connections that don’t work well. This situation would explain some of the symptoms of Fragile X, such as an extreme sensitivity to new sights, sounds, smells, and touches.

Using mice and fruit flies that no longer have a working gene to make FMRP, scientists are working to understand how the absence of this protein affects the brain. Recent research is trying to determine whether a certain process that runs out of control in mice with little or no FMRP leads to the behavioral and learning problems typical in people with Fragile X. Such animal studies may reveal exactly how FMRP functions in the brain and suggest ways to correct situations caused by a lack of the protein. 

Fragile X affects females in some different ways. About 16 percent11 to 19 percent12 of females who have a premutation gene experience premature ovarian failure (POF), meaning their ovarian function stops before normal menopause, sometimes well before the age of 40. Some may experience POF as early as their mid-twenties. POF affects a woman’s ability to get pregnant. It is important, then, for women to know whether or not they have a premutation gene, and to have this knowledge early enough, so that they can consider their options for having a family. In contrast, POF occurs in only 1 percent of women who have two normal FMR1 genes,13 and the average age of menopause for women who are not affected by Fragile X is 51. Women who have a full mutation gene do not lose ovarian function as early as women with a premutation gene, but they still tend to begin menopause earlier than women who are not affected by Fragile X. Scientists do not know why the effect is milder in women who have a full mutation form of the gene than in women with a premutation form of the gene.
 

Source: National Institute of Child Health and Human Development, NIH, DHHS

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Intelligence and learning
Many people with Fragile X have impaired intellectual functioning, which affects their ability to think, reason, and learn. In most cases, researchers use an intelligence test to measure intellectual functioning, resulting in an IQ (intelligence quotient) score. But this score reflects many things besides the ability to think. Attention disorders, hyperactivity, anxiety, and language processing problems can interfere with test-taking skills and learning. Because many people with Fragile X have these problems, a person with Fragile X may have more capabilities than his or her IQ score suggests.

Researchers consider people who score between 85 and 115 on an IQ test to have “average” intelligence.7 On the whole, less than 20 percent of males with Fragile X have an IQ in this range.2 At the same time, few people with Fragile X are severely or profoundly impaired, with IQs below 40 or 25, respectively.8 In general, those with a full mutation tend to have an IQ somewhere in between 40 and 85, which is considered mild to moderate mental impairment.
Females tend to be less seriously affected by Fragile X than males. Even among females who have full-mutation FMR1 genes, only about one-third have an IQ in the mental retardation range.6 Females with Fragile X are more likely to have relatively normal cognitive development, or they may show a learning disability where their academic achievement in some areas is lower than their overall ability to learn. For example, a female with a learning disability in math might score several grades below her grade level in math, even though her IQ is within the normal range.

Many factors influence intelligence, and, like most individuals, people with Fragile X have areas of both strength and weakness. For example, people with Fragile X tend to have good memories for pictures and visual patterns. This ability helps them to learn to recognize letters and words. They are also generally able to follow instructions that are presented as pictures. Their main weaknesses are in thinking about abstract ideas, organizing information, planning ahead, and solving problems.

No matter what their IQ or areas of intelligence, all children and adults with Fragile X are capable of learning. Most children will progress in school and develop basic academic skills. Many adults can learn to take care of themselves and work at a job. People with Fragile X may need more time to learn, special teaching methods, or a specially tailored environment (see the Suggestions for working with individuals with Fragile X box), but they usually can and do make steady progress.
 
 

Source: National Institute of Child Health and Human Development, NIH, DHHS

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What is autism?
Autism is a complex developmental disability that causes problems with social interaction and communication.  Symptoms usually start before age three and can cause delays or problems in many different skills that develop from infancy to adulthood.
What is an autism spectrum disorder?
Different people with autism can have very different symptoms.  Health care providers think of autism as a “spectrum” disorder, a group of disorders with similar features.  One person may have mild symptoms, while another may have serious symptoms.  But they both have an autism spectrum disorder.
Currently, the autism spectrum disorder category includes:

Autistic disorder (also called “classic” autism)
Asperger syndrome
Pervasive Developmental Disorder Not Otherwise Specified (or atypical autism)
In some cases, health care providers use a broader term, pervasive developmental disorder, to describe autism.  This category includes the autism spectrum disorders above, plus Childhood Disintegrative Disorder and Rett syndrome.

This Web site uses “autism spectrum disorder” and “autism” to mean the same thing.

What are the symptoms of autism?
The main signs and symptoms of autism involve problems in the following areas:
Communication - both verbal (spoken) and non-verbal (unspoken, such as pointing, eye contact, and smiling)
Social - such as sharing emotions, understanding how others think and feel, and holding a conversation
Routines or repetitive behaviors (also called stereotyped behaviors) - such as repeating words or actions, obsessively following routines or schedules, and playing in repetitive ways
The symptoms of autism can usually be observed by 18 months of age. 
There are many possible red flags for autism - behaviors that may be signs or symptoms of autism.  Some features may mean a delay in one or more areas of development, while others may be more typical of autism spectrum disorders.  If you think your child shows red flags for autism, talk to your health care provider.

What are the treatments for autism?
There is no cure for autism, nor is there one single treatment for autism spectrum disorders.  But there are ways to help minimize the symptoms of autism and to maximize learning.

Behavioral therapy and other therapeutic options

Behavior management therapy helps to reinforce wanted behaviors, and reduce unwanted behaviors.  It is often based on Applied Behavior Analysis (ABA).
Speech-language therapists can help people with autism improve their ability to communicate and interact with others.
Occupational therapists can help people find ways to adjust tasks to match their needs and abilities.
Physical therapists design activities and exercise to build motor control and improve posture and balance.

Educational and/or school-based options

Public schools are required to provide free, appropriate public education from age 3 through high school or age 21, whichever comes first.
Typically, a team of people, including the parents, teachers, caregivers, school psychologists, and other child development specialists work together to design an Individualized Education Plan (IEP) to help guide the child’s school experiences.

Medication options

Currently there are no medications that can cure autism spectrum disorders or all of the symptoms.  The U.S. Food and Drug Administration has not approved any medications specifically for the treatment of autism, but in many cases medication can treat some of the symptoms associated with autism.
Selective serotonin reuptake inhibitors (SSRIs), tricyclics, psychoactive/anti-psychotics, stimulants, and anti-anxiety drugs are among the medications that a health care provider might use to treat symptoms of autism spectrum disorders.Secretin—a hormone that helps digestion—is not recommended as a treatment for autism.

Source: National Institute of Child Health and Human Development, NIH, DHHS

If you have any specific question, you can ask the doctors at www.mymedexpert.com