Fragile X Syndrome

Fragile X Syndrome Liz BickettTiffanie Almeida Michelle Acosta

Fragile X Syndrome • Most common inherited form of mental retardation • Fragile X can cause deficits in cognitive, behavioral, sensory, & speech language

Prevalence • Men • 1 in 1,000 • 1/5 show no obvious signs of the disorder • Women • 1 in 2,000 • 2/3 show no obvious signs of the disorder (Sarason & Sarason, 1999)

Characteristics • Physical • Cognitive Development • Behavioral • Sensory • Speech and Language

Physical Characteristics • Distinctive Facial Features • Longer-than-usual faces and large ears • Connective Tissue Problems • Double jointedness, ear infections, heart murmur, and flat feet • Enlarged Testicles (Males) • After puberty, nearly all will have testicles that are at least 2 times the volume of the typical male (The National Fragile X Foundation, 2006).

Cognitive Developmentin Men • Many have cognitive deficits, ranging from mild to severe • Men who are only carriers generally have normal intelligence • Weaknesses are usually seen in higher order thinking and reasoning skills, as well as, quantitative skills • Cognitive Strengths include verbal reasoning and single word vocabulary, along with high adaptive living skills (The National Fragile X Foundation, 2006).

Cognitive Development in Women • Similar cognitive strengths and weaknesses as men with Fragile X but overall levels of performance are generally higher. • Approximately 30% of women with the full mutation have IQ scores of 85 or above, although some of these women have specific learning disabilities. • Weaknesses are seen in "executive functioning“. • Strengths in females are generally found in vocabulary and comprehension items on IQ tests. (The National Fragile X Foundation, 2006).

Behavior Characteristics • Children with Fragile X often have many behavioral challenges. These challenges are often one of the main areas for identification of Fragile X. • 80-90% of boys identified are described as distractible, with symptoms of ADHD. Girls have less hyperactivity but still show symptoms of ADHD. • Many boys manifest behaviors such as hand flapping, chewing on skin, clothing, or objects, which may be connected to sensory problems and anxiety. • Many behavior problems for both boys and girls overlap with the conversational difficulties they have in language. (The National Fragile X Foundation, 2006).

Sensory Problems • Parent’s of infants with Fragile X may notice hypersensitivity to light, sounds, touch, and texture. • Many children have a strong negative reaction to being held or to certain textures of clothing. • High arousal levels to visually complex or crowded environments, unpredictable events, and maintenance of eye contact are also common. (The National Fragile X Foundation, 2006).

Speech and Language • Difficulties with speech and language are common in boys with fragile X syndrome. • Delays in speaking may be the first sign to parents that something is wrong. • Boys may have difficulty with both speech and hearing due to structural differences. • Boys are also shown to have auditory processing problems. • In girls, many areas of speech and language may be strengths. Language disorders that effect girls with fragile X are usually in the area of conversation skills. (The National Fragile X Foundation, 2006).

Genetics of Fragile X • Fragile X Syndrome is an abnormality of the X chromosome that is the most frequent cause of mental retardation except for Down Syndrome • (Sarason & Sarason, 1999). • The gene effected is the FMR1 (The National Fragile X Foundation, 2006).

Location of the FMR1 The FMR1 gene is located on the long (q) arm of chromosome X at position 27.3 .

Fragile X Details • FMR1 is the gene that contains the genetic information for how to process FMRP (fragile X mental retardation protein). • Fragile X syndrome occurs when FMRP is missing. • People who do not have fragile X syndrome, make FMRP in some of their cells. Those cells that do make FMRP are regulated as to when they make it, so that it is present when needed in the places where it is needed. (The National Fragile X Foundation, 2005)

Fragile X Details…(continued) • The major characteristics observed in individuals with Fragile X Syndrome are related to the functioning of the brain. • In individuals who do not have fragile X syndrome, the brain and testicles are places where the protein FMRP is actively synthesized. • In other words, humans typically make FMRP in the testicles and the brain; if they can't, problems occur and we call those problems fragile X syndrome. (The National Fragile X Foundation, 2005)

What is Fragile X ? • Researchers are not sure the exact role of FMRP in cognitive and behavioral functioning. • There is evidence that it plays some role in regulating protein synthesis. • The existence of FMRP in the body is not essential to an individual’s survival but it is a crucial component to typical cognitive and behavioral functioning.

Why Fragile X? • Fragile X gets its name from the fact that the X chromosome, of the individual affected, will show a fragile spot when grown in a lab culture • (Sarason & Sarason, 1999). • Also, the X chromosome breaks in two, making it “fragile” . (Davison, Neale, & Kring, 2004)

How do you get Fragile X? • Fragile X syndrome is transmitted from parent to child through the genetic information (DNA) that is present in the sperm and egg. • The X chromosome is part of the sex chromosome pair. This determines the sex of the individual. (Sarason & Sarason, 1999).

Inheritance • Women have 2 X chromosomes • Men have 1 X and 1 Y chromosome • If only 1 of the mother’s X chromosome is effected by Fragile X Syndrome, the mother may not have mental retardation but may be a carrier of Fragile X Syndrome.

Inheritance (continued…) • Since one of the sex chromosome pair comes from each parent, if a man has Fragile X Syndrome it must have been transmitted through his mother. • Because girls have two X chromosomes, one from each parent, female children are less likely to be affected by fragile X syndrome.

Fragile X and the Brain • Children with Fragile X have been reported to have larger hippocampal volumes than individuals without fragile X Geuze, Vermetten, & Bremner, 2005

Fragile X and The Brain • Priliminary studies from imaging studies out of Stanford suggest an association between the FMR1 mutation and abnormalities of particular neuroanatomical regions. • Individuals with fragile X demonstrate abnormalities of the fourth and lateral ventricles, hippocampus, amygdala

Fragile X and the Brain (cont.) • Working memory During a memory task, where subjects must remember the location of objects, compared to “typical” control subjects, subjects with fragile X have significantly reduced activation in the frontal and parietal brain regions. Subject with Fragile X Subject who is “Typical”

Response inhibition During a response inhibition task, where subjects must with-hold response to particular stimuli, compared to “typical” control subjects, subjects with fragile X have significantly reduced activation in the prefrontal cortex Subject with Fragile X “Typical” Subject

The Brain • One area that children will Fragile X have a particularly difficult time with is Math. • Studies are being done to take a closer look at this.

Educational Implications • Perceived as being difficult to accommodate within a class room setting or environment • Having an informed understanding of their individual and specific difficulties can help teachers and peers adapt - impaired ability to organize and select incoming sensory information • Better on tasks that require vocabulary knowledge and verbal reasoning - tend to perform better on spelling tasks and reading • Benefit from a more visually based, experiential or holistic learning style – visually presented material • Perform poorly on tasks that involve abstract reasoning – mathematics (Saunders, 1999)

Educational Implications cont. To Facilitate Learning… • Need a high level of assistance to keep them organized and on task - high level of distractibility makes this hard for them to accomplish on their own • Direct pressure on the student (time limits, questions in front of others, and insistence on collaboration) can often cause adverse reactions from student • Often find writing to be difficult and alternative recording methods (i.e. computer) can help them demonstrate their actual knowledge • Often have a good memory for things that capture their interest and excel in subjects that particularly interest them (Saunders, 1999)

Educational Implications cont. Classroom Environment… • Benefit from a quiet, calm, and orderly classroom – with a minimum amount of noise and disruption • Benefit from a clear and consistent routine that is predictable to the student • Benefit tremendously from having their own space within the classroom that they can retreat to when needed • Often become upset or distressed when other students in the classroom are upset or get in trouble – they dislike fights or arguments amongst other students (Saunders, 1999)

Educational Implications cont. Behaviorally To Avoid Problem Behaviors… • Know the student’s individual triggers and plan to avoid them or offer special help to enable student to cope with certain situations • Allow student some freedom to roam about the classroom and engage in some “off-task” behavior when necessary • Give the student their own personal space and, when needed, seat him or her away from other pupils (Saunders, 1999)

Educational Implications cont. ToRestore Order After Behavioral Problems… • Remove the student from the scene of the disturbance, preferably out of the room, or to a place where he or she feels ‘safe’ • A familiar and trusted adult should remain close and talk to the student in order to help calm him or her • Distract the student with familiar and enjoyable objects, tasks, and activities • Allow the student time and freedom to do what they need to do in order to restore and regain their self-control, before returning them to the class • When the student appears to become calmer, humor can often help restore normality (Saunders, 1999)

The Faces of Fragile X • Video clip: • http://www.youtube.com/watch?v=wGdH1M5lCVY

Find Out More… • National Fragile X Foundation • http://www.fragilex.org/html/home.shtml • Center for Human Development • http://www.cdc.gov/ncbddd/single_gene/fragilex.htm • Fragile X Research Foundation • http://www.fraxa.org/

Fragile X Syndrome