By: Michael Garrett Logan Fragile X Syndrome By: Michael Garrett Logan

What is Fragile X Syndrome? According to the National Fragile X foundation, “fragile X syndrome is the most common cause of mental impairment”. Impairments range from learning disabilities to severe cognitive disabilities to intellectual disabilities. Fragile X is the most common known cause of autism and autism like behaviors. http://www.fragilex.org

What causes Fragile X Syndrome Fragile X syndrome is a genetic disorder passed from parent to offspring through DNA. It is caused by mutation of the FMR1 gene (Fragile X mental retardation 1) on the X chromosome. This mutation is the result of a trinucleotide repeat disorder. A section of the FMR1 DNA usually repeats a sequence known as CGG (cytosine, guanine & guanine) 30-55 times. For someone with Fragile X syndrome, this section repeats itself 200-800 times. This causes the FMR1 gene not to produce the FMRP (Fragile X mental retardation protein).

Causes Continued… Mutation of this gene can vary between premature mutation and full mutation. Other disorders associated with this gene mutation: fragile x associated tremor/ataxia fragile x associated POF (premature ovarian failure)

Demographics The appearance of Fragile X symptoms is far more common in men because they have one X chromosome. Unlike women who have two, they are unable to produce any FMR protein. Males: An estimated incidence of 1-3,600. Females: Between 1-4,000-6,000 estimated chance having FXS -this number varies because females who have fragile X may not even be diagnosed. FXS affects people of all races. 1 in 250 females are carriers while 1 in 700 males are carriers.

Characteristics Fragile X Syndrome (FXS) affects people in a variety of ways. In some carriers these characteristics are hardly noticeable, while in others these characteristics are extremely evident. FXS can affect physical appearance, cognitive abilities, behavior, sensory capabilities; and speech and language.

Physical Characteristics Distinctive facial features. -males exhibit long faces, prominent ears, and a high arched pallet. These features are more noticeable after puberty - facial features are rare in females, however females with full mutation may exhibit some of the same facial features Connective tissue problems -double jointedness (loose connective tissue) -ear infections -circulatory system (heart murmurs) -cutis veriticis gyrata (furrowing of the scalp) -flat feet -velvet like skin

Physical Characteristics Macroorchidism (enlarging of the testicles) - Very common in males with FXS - After puberty nearly all male FXS patients with full gene mutation will have testicles 2 times the size of typical males Low muscle tone.

Cognitive Development in Males Cognitive development refers to thinking, problem solving, concept understanding and overall intelligence. 80% of males with FXS have cognitive delays. 10-15% have IQ’s that are in ID range or borderline Strengths: verbal labeling, single word vocabulary, high receptive skills, visual matching, strong memory Weaknesses: reasoning skills, qualitative skills, visual motor skills, communication and socialization ability.

Cognitive Development in Girls Females with full FXS mutation have similar pattern of strengths and weaknesses as males but their performance levels are higher. 30% percent of females with full mutation score above 85 on IQ tests. Strengths: vocabulary comprehension, short term visual memory, reading, spelling and writing Weaknesses: attending, sustaining effort, using feedback, self monitoring, conversational processing, poor mathematical reasoning

Behavioral Characteristics Positive: sweet, loving, desire for social interaction Behavioral difficulties: ADHD symptoms, hand flapping, chewing/biting (skin, clothes), sensory defensiveness, anxiety, coprolalia (repetitive bursts of swearing), autistic related behaviors, psychosis, schizophrenia, tics

Sensory Processing Problems Many behavioral problems are associated with sensory processing disorders common in FXS patients Sensitive to light, sound and touch. High difficulty maintaining eye contact

Speech and language difficulties Males: late talkers, difficulties associated with physical features, auditory processing problems, imprecise articulation, fast rate of speech, high volume, high pitched Females: difficulties related to communicative problems, unorganized sentence structure

Impact on The Individual Life expectancy: varies depending on the severity of the condition. For the most part patients with FXS will have a normal life expectancy. Career: once again it varies, high functioning patients can expect to succeed in lower level jobs. Work programs are available for more severe patients. Living Situation: Depending on the individual situation some FXS patient will be in assisted living situations, group homes or supervised apartments.

Daily Impact Daily living skills are a challenge for FXS patients and their families. Sleep: infants struggle to go to sleep, bedding is irritating, children and adults awaken in the middle of the night and wander Eating: Breast feeding for infants is difficult, children over fill their mouths when eating, they have trouble chewing and are extremely picky about what they eat. Dressing: Parents or caregivers must pay attention to what fabrics FXS patients wear. They may need extra assistance at young ages due to low muscle tone. Hygiene: bathing, shaving and brushing teeth are difficult due to hyper stimulation. Toilet training: difficult due to developmental delays.

Diagnoses As of 1991, DNA testing has been available for fragile X diagnoses. This test can also identify possible carriers. Testing is recommended for anyone with autistic characteristics, anyone with family members who have an intellectual disability.

Treatments There is no cure for FXS Treatments include: specialized education, speech & occupational therapy, sensory integration training, behavior modification and possible corrective heart surgery, ADHD medications and folic acid. Genetic Counseling

Educational Interventions Birth to 3 family counseling, assistance with services, programs that encourage language and sensory development Early childhood Attend preschool in least restrictive environment where appropriate services are provided Elementary : Begin an IEP, depending on the severity of the disorder, they may need a self-contained classroom Middle and High School: students will continue on an IEP and will practice the same behavior and sensory modifications as before

Works Cited Davies, K. (1989). The fragile x syndrome. New York, Oxford University Press. Sutherland, G. & Hecht, F. (1985). Fragile sites on human chromosomes. New York, Oxford University Press. Opitz, J.(1984). X-linked mental retardation. New York, Alan R. Liss, INC. The National Fragile X Foundation: www.fragilex.org Fraxa: The Fragile X Research Foundation: www.fraxa.org