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

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Page 1: Fragile X Syndrome By: Michael Garrett Logan. What is Fragile X Syndrome?  According to the National Fragile X foundation, “fragile X syndrome is the

Fragile X SyndromeFragile X SyndromeBy: Michael Garrett Logan By: Michael Garrett Logan

Page 2: Fragile X Syndrome By: Michael Garrett Logan. What is Fragile X Syndrome?  According to the National Fragile X foundation, “fragile X syndrome is the

What is Fragile X Syndrome?What is Fragile X Syndrome? According to the National Fragile X foundation, “fragile X According to the National Fragile X foundation, “fragile X

syndrome is the most common cause of mental syndrome is the most common cause of mental impairment”. impairment”.

Impairments range from learning disabilities to severe Impairments range from learning disabilities to severe cognitive disabilities to intellectual disabilities. cognitive disabilities to intellectual disabilities.

Fragile X is the most common known cause of autism and Fragile X is the most common known cause of autism and autism like behaviors.autism like behaviors.

http://www.fragilex.orghttp://www.fragilex.org

Page 3: Fragile X Syndrome By: Michael Garrett Logan. What is Fragile X Syndrome?  According to the National Fragile X foundation, “fragile X syndrome is the

What causes Fragile X SyndromeWhat causes Fragile X Syndrome

Fragile X syndrome is a genetic disorder passed Fragile X syndrome is a genetic disorder passed from parent to offspring through DNA.from parent to offspring through DNA.

It is caused by mutation of the FMR1 gene It is caused by mutation of the FMR1 gene (Fragile X mental retardation 1) on the X (Fragile X mental retardation 1) on the X chromosome.chromosome.

This mutation is the result of a trinucleotide This mutation is the result of a trinucleotide repeat disorder. repeat disorder.

A section of the FMR1 DNA usually repeats a A section of the FMR1 DNA usually repeats a sequence known as CGG (cytosine, guanine & sequence known as CGG (cytosine, guanine & guanine) 30-55 times. For someone with Fragile X guanine) 30-55 times. For someone with Fragile X syndrome, this section repeats itself 200-800 syndrome, this section repeats itself 200-800 times.times.

This causes the FMR1 gene not to produce the This causes the FMR1 gene not to produce the FMRP (Fragile X mental retardation protein). FMRP (Fragile X mental retardation protein).

Page 4: Fragile X Syndrome By: Michael Garrett Logan. What is Fragile X Syndrome?  According to the National Fragile X foundation, “fragile X syndrome is the

Causes Continued…Causes Continued…

Mutation of this gene can vary between Mutation of this gene can vary between premature mutation and full mutation. premature mutation and full mutation.

Other disorders associated with this gene Other disorders associated with this gene mutation:mutation:

• fragile x associated tremor/ataxiafragile x associated tremor/ataxia• fragile x associated POF (premature fragile x associated POF (premature

ovarian failure)ovarian failure)

Page 5: Fragile X Syndrome By: Michael Garrett Logan. What is Fragile X Syndrome?  According to the National Fragile X foundation, “fragile X syndrome is the
Page 6: Fragile X Syndrome By: Michael Garrett Logan. What is Fragile X Syndrome?  According to the National Fragile X foundation, “fragile X syndrome is the

DemographicsDemographics The appearance of Fragile X symptoms is far more common in The appearance of Fragile X symptoms is far more common in

men because they have one X chromosome. Unlike women who men because they have one X chromosome. Unlike women who have two, they are unable to produce any FMR protein.have two, they are unable to produce any FMR protein.

• Males: An estimated incidence of 1-3,600. Males: An estimated incidence of 1-3,600.

• Females: Between 1-4,000-6,000 estimated chance having FXSFemales: Between 1-4,000-6,000 estimated chance having FXS -this number varies because females -this number varies because females who have fragile X may not even be who have fragile X may not even be diagnosed. diagnosed.

• FXS affects people of all races. FXS affects people of all races. • 1 in 250 females are carriers while 1 in 700 males are carriers.1 in 250 females are carriers while 1 in 700 males are carriers.

Page 7: Fragile X Syndrome By: Michael Garrett Logan. What is Fragile X Syndrome?  According to the National Fragile X foundation, “fragile X syndrome is the

CharacteristicsCharacteristics

Fragile X Syndrome (FXS) affects people in Fragile X Syndrome (FXS) affects people in a variety of ways. In some carriers these a variety of ways. In some carriers these characteristics are hardly noticeable, while characteristics are hardly noticeable, while in others these characteristics are in others these characteristics are extremely evident.extremely evident.

FXS can affect physical appearance, FXS can affect physical appearance, cognitive abilities, behavior, sensory cognitive abilities, behavior, sensory capabilities; and speech and language.capabilities; and speech and language.

Page 8: Fragile X Syndrome By: Michael Garrett Logan. What is Fragile X Syndrome?  According to the National Fragile X foundation, “fragile X syndrome is the

Physical CharacteristicsPhysical Characteristics Distinctive facial features.Distinctive facial features. -males exhibit long faces, prominent ears, and a high arched -males exhibit long faces, prominent ears, and a high arched pallet. These features are more noticeable after pubertypallet. These features are more noticeable after puberty - facial features are rare in females, however females with full - facial features are rare in females, however females with full mutation may exhibit some of the same facial features mutation may exhibit some of the same facial features

Connective tissue problems Connective tissue problems -double jointedness (loose connective tissue)-double jointedness (loose connective tissue) -ear infections-ear infections -circulatory system (heart murmurs) -circulatory system (heart murmurs) -cutis veriticis gyrata (furrowing of the scalp)-cutis veriticis gyrata (furrowing of the scalp) -flat feet-flat feet -velvet like skin-velvet like skin

Page 9: Fragile X Syndrome By: Michael Garrett Logan. What is Fragile X Syndrome?  According to the National Fragile X foundation, “fragile X syndrome is the

Physical CharacteristicsPhysical Characteristics

Macroorchidism (enlarging of the testicles)Macroorchidism (enlarging of the testicles)

- Very common in males with FXS- Very common in males with FXS

- After puberty nearly all male FXS - After puberty nearly all male FXS

patients with full gene mutation will have patients with full gene mutation will have testicles 2 times the size of typical malestesticles 2 times the size of typical males

• Low muscle tone. Low muscle tone.

Page 10: Fragile X Syndrome By: Michael Garrett Logan. What is Fragile X Syndrome?  According to the National Fragile X foundation, “fragile X syndrome is the

Cognitive Development in MalesCognitive Development in Males

Cognitive development refers to thinking, problem solving, Cognitive development refers to thinking, problem solving, concept understanding and overall intelligence. concept understanding and overall intelligence.

• 80% of males with FXS have cognitive delays.80% of males with FXS have cognitive delays.

• 10-15% have IQ’s that are in ID range or borderline10-15% have IQ’s that are in ID range or borderline

• StrengthsStrengths: verbal labeling, single word vocabulary, high : verbal labeling, single word vocabulary, high receptive skills, visual matching, strong memoryreceptive skills, visual matching, strong memory

• WeaknessesWeaknesses: reasoning skills, qualitative skills, visual : reasoning skills, qualitative skills, visual motor skills, communication and socialization ability.motor skills, communication and socialization ability.

Page 11: Fragile X Syndrome By: Michael Garrett Logan. What is Fragile X Syndrome?  According to the National Fragile X foundation, “fragile X syndrome is the

Cognitive Development in GirlsCognitive Development in Girls Females with full FXS mutation have similar Females with full FXS mutation have similar

pattern of strengths and weaknesses as males pattern of strengths and weaknesses as males but their performance levels are higher. but their performance levels are higher.

30% percent of females with full mutation score 30% percent of females with full mutation score above 85 on IQ tests. above 85 on IQ tests.

• StrengthsStrengths: vocabulary comprehension, short term : vocabulary comprehension, short term visual memory, reading, spelling and writingvisual memory, reading, spelling and writing

• WeaknessesWeaknesses: attending, sustaining effort, using : attending, sustaining effort, using feedback, self monitoring, conversational feedback, self monitoring, conversational processing, poor mathematical reasoning processing, poor mathematical reasoning

Page 12: Fragile X Syndrome By: Michael Garrett Logan. What is Fragile X Syndrome?  According to the National Fragile X foundation, “fragile X syndrome is the

Behavioral CharacteristicsBehavioral Characteristics

PositivePositive: sweet, loving, desire for social : sweet, loving, desire for social interactioninteraction

Behavioral difficultiesBehavioral difficulties: ADHD symptoms, : ADHD symptoms, hand flapping, chewing/biting (skin, hand flapping, chewing/biting (skin, clothes), sensory defensiveness, anxiety, clothes), sensory defensiveness, anxiety, coprolalia (repetitive bursts of swearing), coprolalia (repetitive bursts of swearing), autistic related behaviors, psychosis, autistic related behaviors, psychosis, schizophrenia, tics schizophrenia, tics

Page 13: Fragile X Syndrome By: Michael Garrett Logan. What is Fragile X Syndrome?  According to the National Fragile X foundation, “fragile X syndrome is the

Sensory Processing ProblemsSensory Processing Problems

Many behavioral problems are Many behavioral problems are associated with sensory processing associated with sensory processing disorders common in FXS patientsdisorders common in FXS patients

Sensitive to light, sound and touch. Sensitive to light, sound and touch. High difficulty maintaining eye High difficulty maintaining eye

contactcontact

Page 14: Fragile X Syndrome By: Michael Garrett Logan. What is Fragile X Syndrome?  According to the National Fragile X foundation, “fragile X syndrome is the

Speech and language difficultiesSpeech and language difficulties

MalesMales: late talkers, difficulties : late talkers, difficulties associated with physical features, associated with physical features, auditory processing problems, auditory processing problems, imprecise articulation, fast rate of imprecise articulation, fast rate of speech, high volume, high pitchedspeech, high volume, high pitched

FemalesFemales: difficulties related to : difficulties related to communicative problems, communicative problems, unorganized sentence structure unorganized sentence structure

Page 15: Fragile X Syndrome By: Michael Garrett Logan. What is Fragile X Syndrome?  According to the National Fragile X foundation, “fragile X syndrome is the

Impact on The Individual Impact on The Individual Life expectancy:Life expectancy: varies depending on the varies depending on the

severity of the condition. For the most part severity of the condition. For the most part patients with FXS will have a normal life patients with FXS will have a normal life expectancy.expectancy.

Career:Career: once again it varies, high functioning once again it varies, high functioning patients can expect to succeed in lower level patients can expect to succeed in lower level jobs. Work programs are available for more jobs. Work programs are available for more severe patients. severe patients.

Living SituationLiving Situation: Depending on the individual : Depending on the individual situation some FXS patient will be in assisted situation some FXS patient will be in assisted living situations, group homes or supervised living situations, group homes or supervised apartments. apartments.

Page 16: Fragile X Syndrome By: Michael Garrett Logan. What is Fragile X Syndrome?  According to the National Fragile X foundation, “fragile X syndrome is the

Daily ImpactDaily Impact Daily living skills are a challenge for FXS patients and their Daily living skills are a challenge for FXS patients and their

families.families.

• SleepSleep: infants struggle to go to sleep, bedding is irritating, : infants struggle to go to sleep, bedding is irritating, children and adults awaken in the middle of the night and wanderchildren and adults awaken in the middle of the night and wander

• EatingEating: Breast feeding for infants is difficult, children over fill : Breast feeding for infants is difficult, children over fill their mouths when eating, they have trouble chewing and are their mouths when eating, they have trouble chewing and are extremely picky about what they eat.extremely picky about what they eat.

• DressingDressing: Parents or caregivers must pay attention to what : Parents or caregivers must pay attention to what fabrics FXS patients wear. They may need extra assistance at fabrics FXS patients wear. They may need extra assistance at young ages due to low muscle tone. young ages due to low muscle tone.

• Hygiene:Hygiene: bathing, shaving and brushing teeth are difficult due to bathing, shaving and brushing teeth are difficult due to hyper stimulation.hyper stimulation.

• Toilet trainingToilet training: difficult due to developmental delays.: difficult due to developmental delays.

Page 17: Fragile X Syndrome By: Michael Garrett Logan. What is Fragile X Syndrome?  According to the National Fragile X foundation, “fragile X syndrome is the

DiagnosesDiagnoses

As of 1991, DNA testing has been As of 1991, DNA testing has been available for fragile X diagnoses. available for fragile X diagnoses. This test can also identify possible This test can also identify possible carriers.carriers.

• Testing is recommended for anyone Testing is recommended for anyone with autistic characteristics, anyone with autistic characteristics, anyone with family members who have an with family members who have an intellectual disability.intellectual disability.

Page 18: Fragile X Syndrome By: Michael Garrett Logan. What is Fragile X Syndrome?  According to the National Fragile X foundation, “fragile X syndrome is the

TreatmentsTreatments

There is no cure for FXSThere is no cure for FXS

• Treatments include:Treatments include: specialized specialized education, speech & occupational therapy, education, speech & occupational therapy, sensory integration training, behavior sensory integration training, behavior modification and possible corrective heart modification and possible corrective heart surgery, ADHD medications and folic acid.surgery, ADHD medications and folic acid.

• Genetic CounselingGenetic Counseling

Page 19: Fragile X Syndrome By: Michael Garrett Logan. What is Fragile X Syndrome?  According to the National Fragile X foundation, “fragile X syndrome is the

Educational InterventionsEducational Interventions

Birth to 3Birth to 3• family counseling, assistance with services, programs that family counseling, assistance with services, programs that

encourage language and sensory developmentencourage language and sensory development

Early childhoodEarly childhood • Attend preschool in least restrictive environment where Attend preschool in least restrictive environment where

appropriate services are providedappropriate services are provided

Elementary :Elementary : Begin an IEP, depending on the severity of the Begin an IEP, depending on the severity of the disorder, they may need a self-contained classroom disorder, they may need a self-contained classroom

Middle and High School: Middle and High School: students will continue on an IEP and students will continue on an IEP and will practice the same behavior and sensory modifications will practice the same behavior and sensory modifications as beforeas before

Page 20: Fragile X Syndrome By: Michael Garrett Logan. What is Fragile X Syndrome?  According to the National Fragile X foundation, “fragile X syndrome is the

Works CitedWorks Cited

Davies, K. (1989). Davies, K. (1989). The fragile x syndrome.The fragile x syndrome. New York, Oxford University Press.New York, Oxford University Press.

Sutherland, G. & Hecht, F. (1985). Sutherland, G. & Hecht, F. (1985). Fragile sites on human Fragile sites on human chromosomeschromosomes. New York, Oxford University Press.. New York, Oxford University Press.

Opitz, J.(1984). Opitz, J.(1984). X-linked mental retardationX-linked mental retardation. . New York, Alan R. Liss, INC.New York, Alan R. Liss, INC.

The National Fragile X Foundation: The National Fragile X Foundation: www.fragilex.orgwww.fragilex.org

Fraxa: The Fragile X Research Foundation: www.fraxa.orgFraxa: The Fragile X Research Foundation: www.fraxa.org