Fragile X Syndrome/ Martin-Bell Syndrome

Presented by: Kristin Hanley

What will you learn about Fragile X Syndrome?

• Why is it called Fragile X Syndrome?• What is the Fragile X Syndrome or Martin – Bell Syndrome ?• What is NOT Fragile X Syndrome?• How is the Fragile X Transmitted?• How can it be transmitted by the father?• How can it be transmitted by the mother?• Does this Syndrome Present Similarities and Differences in Boys and Girls?

• What are the Common Symptoms of Fragile X Syndrome?

• What are the signs and symptoms that I should be aware of when teaching a student with Fragile X Syndrome?

• What are the treatment options?• What can we do as classroom teachers?• Websites for Teacher Support

Why is it called Fragile X Syndrome?

• The X chromosome appears broken.

• This is a diagram of the X chromosome.

• The FMR1 gene is found on the long arm of this chromosome. At the beginning of the FMR1 gene is a region of DNA that varies in length from one person to another.

• In some people this region of DNA is longer which is referred to as a “premutation”.

• Often, the person who carries this premutation does not have signs or symptoms of this disorder.

• This DNA strand Is likely to expand to a certain length when passed from mother to child.

• When it reaches a certain length the gene is switched off and does not produce the protein that it is normally makes. This is a “full mutation”.

What is the Fragile X Syndrome or

Martin – Bell Syndrome ?

• It is the most common cause of inherited mental impairment • A genetic disorder caused by the mutation of the FMR1 Gene

located on the X chromosome• In 1943 scientists: Martin and Bell identified an type of X-linked

mental disability• It can be presented by ways of learning disabilities to more seere

cognitive or intellectual disabilities • It is the most common know cause for autism or “autistic – like”

behaviour

What is NOT Fragile X Syndrome?

Fragile X is NOT:

An infectious disease

A problem caused by nutrition

How is the Fragile X Transmitted? Molecular Cause:

- our bodies have about 60 trillion cells

- each cell makes a specific type of protein which is determined by the instructions that are stored in the DNA – this information is organized into chromosomes

- people without Fragile X have some cells that produce the FMRP (fragile X mental retardation protein) along with other cells that only produce this protein when needed

- a person with Fragile X Syndrome does not make a specific protein FMRP (fragile X mental retardation protein)

- the mutation within the FMR1 (fragile X mental retardation 1) gene causes the cell to methylate a regulatory region of the FMR1 gene. The methylation turns off the FMR1 gene. Since the gene is turned off, the person doesn't make FMRP. That lack of a specific protein triggers fragile X syndrome http://www.fragilex.org/html/molecular.htm

How is the Fragile X Transmitted?

Inheritance of Fragile X: -Fragile X is transmitted through the genetic information found in the sperm

or egg of a parent to the child

-Fragile X can be passed on in a family by individuals who have no apparent signs of this genetic condition.

-In some families a number of family members appear to be affected and in other families a newly diagnosed individual may be the first family

member to exhibit symptoms.

- The diagram below gives a more simplified version of how Fragile X is transmitted.

How is Fragile X Transmitted?

How can it be transmitted by the father?

• only have one copy of the X chromosome and those who have “ significant trinucleotide expansion at the FMR1 locus” have symptoms such as intellectual disabilities and physical appearancehttp://en.wikipedia.org/wiki/Fragile_X_syndrome

• Cannot be transmitted from father to son even if the father has the Fragile X because they contribute a Y chromosome to their sons, not an X

• Fathers with Fragile X can transmit it to their daughters because they contribute an X chromosome to them

How can it be transmitted by the mother?

• Females have 2 X chromosomes = double the chance of having a working FMR1 allele

• Females can exhibit signs and symptoms of Fragile X who carry1 X chromosome with an expanded form of FMR1 gene or they may not present any signs or symptoms

• The X chromosome can be transmitted to both sons or daughters which means they have a 50% chance of inheriting Fragile X

• High risk of intellectual disability for sons with Fragile X

• Daughters who inherit Fragile X may or may not have intellectual disability

• Transmission of Fragile X increases in with each passing generation

Does this Syndrome Present Similarities and Differences in Boys and

Girls?

BOYS: • Typically more severely affected

• Most who inherit fragile X have intelectual disabilities

• 20% of boys meet the full criteria of autism

• Most boys have some symptoms of autism

• Experience emotional and behavioural challenges

GIRLS:

• only one-third to one-half of girls have significant intellectual impairment – others have do not exhibit signs or symptoms

• Math is a challenging subject

• Some girls have some symptoms of autism

• Many tend to be very social individuals

• Experience emotional and behavioural challenges

What are the Common Symptoms of Fragile X Syndrome?

Common Symptoms are:• mental impairment, ranging from learning

disabilities to mental retardation • attention deficit and hyperactivity • anxiety and unstable mood • autistic behaviors • long face, large ears, flat feet • hyperextensible joints, especially fingers • Seizures (epilepsy) affect about 25% of people

with fragile X http://www.fraxa.org/aboutfx_symptoms.aspx

What are the signs and symptoms that I should be aware of when teaching a student

with

Fragile X Syndrome? Intellectual and Learning Ability

Physical Ability Social and Emotional Ability

Speech and Language Ability

Sensory Ability

-affects ability to think, reason, learn

-intelligence tests are used to measure level of intellectual functioning – IQ score is skewed as it does not take into account other common symptoms that may interfere with an accurate IQ score (Attention disorders, language processing problems, anxiety)

-tend to have good memories for pictures and visual patterns – recognize names and sounds of letters and pictorial instructions

-many with fragile X do not exhibit distinctive physical

features

-some children can have very a broad forehead or a larger head then their peers and soft skin, velvety skin

-at age 11 tend to develop more specific to teens and adults:

- not as tall as family

members

- longer face or jaw

- more noticeable

ears

- many males develop enlarged testicles called

Macro-orchidism

-all children and adults experience some level of social anxiety

-may not keep eye contact or talk in a fast and choppy way

-people with high levels of anxiety may avoid all social situations and when with peers feel very nervous and uncomfortable

MALES:

-get upset easily-Very sensitive and become easily overwhelmed and distressed with sights and sounds

-children may have mild to severe difficulties with basic language skills: pronounce words clearly, speak and write words, communicate meaningfully

-some may begin speaking later than developmentally expected

-age 4 most can say some words but some may not speak until 8

- some may nonverbal and use picture based and computer based devices or sign language

-problems with sensory integration can be identified in young children

-may be hypersensitive to light, sound, touch

-may react negatively to being held or touching certain textures exhibiting tactile defensiveness

-high arousal levels to visually complex environments, maintenance of eye contact and unpredictable events

-may affect behaviour

-may cause overreactions to highly stimulating situations (change in routine)

What are the signs and symptoms that I should be aware of when teaching a student

with Fragile X Syndrome?

Intellectual and Learning Ability

Physical Ability Social and Emotional Ability

Speech and Language Ability

Sensory Ability

-difficulty understanding abstract ideas, organizing information, planning ahead and solving problems

-all individuals with Fragile X are capable of learning

-most develop basic academic skills and learn to take care of themselves and work at a job

-this does affect sexual development

-FMRP role is to help the body maintain its connective tissues inside and out; have loose, flexible joints; flat feet; able to extend joints like thumb further than normal;

-weak connective tissue (please see more in “Other Disorders Associated to Fragile X” slide

-Can exhibit behaviours like rigidness, crying, tantrums and repetitive behaviours when confronted with unexpected changes or new events

-medication and a stable, calm environment can assist in these behaviours

-experience long periods of anxiety with increase of heart rate and level of nervousness

FEMALES: -Rarley have language problems-Many have age appropriate vocabulary and grammar skills-Social anxiety may impede their ability/willingness to communicate-Speech may be characterized as rambling and disorganized and get off topic

MALES:

-difficulty expressing themselves; speaking clearly; vocal processes(pitch); developing movements needed to speak clearly-

-self stimulation may occur (biting of clothes and skin, body rocking)-Acting out may occur-Eye gazing is very common – maintaining eye contact is skill that is important to practice and reinforce in school -Many of these “undesirable” behaviours can be controlled by medication and change in environment

What are the signs and symptoms that I should be aware of when teaching a student

with Fragile X Syndrome?

Intellectual and Learning Ability

Physical Ability Social and Emotional Ability

Speech and Language Ability

Sensory Ability

FEMALES:

-have social problems but on a milder scale

-may have trouble making friends but are not aggressive in their reactions

-difficulty receiving and processing spoken information

- May stutter, speak too quickly, repeat words, speak loudly and in a high pitch

-difficulty using speech in a social context – are often unaware of conversational clues (facial expressions)

-may be interested in having social interactions but may experience over stimulation or sensory overload

Are there other disorders that are associated or share similar features

with Fragile X?

Fragile X Syndrome

AUTISM•About 33% of children with fragile are diagnosed with autism because they have these behavious: flapping hands, biting themselves, repetitious actions, and walking on toes. •Only 4% of people first diagnosed with autism have theX chromosome with the FMR1 gene mutation

ATTENTION DEFICIT DISORDERMALES: 80 – 90% FEMALES: 35-47%•Have difficulties staying on task •May be disorganized•Some are hyperactive

Are there other disorders that are associated or share similar features

with Fragile X? (Continued)

Fragile X Syndrome

CONNECTIVE TISSUE PROBLEMS•Higher risk of dislocating joints, •May have hernias and ear infections•About half of the people have heart murmurs caused by valve and vessel problems “mitral valveprolapse” but is usually not life Threatening

SEIZURES•About 20% experience seizures are controlled by medications

PREMATURE OVARIAN FAILURE -a problem with ovarian function-some female gene carriers can experience infertility and early menopause

What are the treatment options?

EDUCATION• from birth to age 3 children can attend an early intervention program• If qualified for special services or identified intellectually and/or developmentally

students will have an IEP with clearly stated goals• 3 classroom possibilities that are decided with the support of educators, parents and

physicians: - full inclusion in a regular classroom - inclusion with “pull-out” services - full time special education service

THERAPY Speech-Language Therapist: help improve pronunciation of word, can develop social

or problem-solving situations to practice these skills, can teach nonverbal skills and strategies

Occupational Therapy: work with the child to adjust tasks and conditions to match their needs abilities – ex: provide a specially designed keyboard and mouse

Physical Therapy: children do activities to develop gross motor strength and ability and control

Behaviour Therapy: try to identify the causes of these negative reactions and work on ways to prevent these distressing events through the development of programs and strategies that can be used in school and in the home

What are the treatment options?

MEDICATION No medication can cure fragile X

Most effective use of medication is when it is paired with therapy designed to control a certain behaviour

Please go to http://www.medicinenet.com/fragile_x_syndrome/page13.htm

For a suggested list of medications to accompany with specific therapies.

What can we do as classroom teachers?

Provide different opportunitiesfor the student to interact socially first

In a controlled setting(centers)

Provide many chances for students

to use common vocabulary

Post an individual daily schedule onthe students’ desk

Ask for supportfrom school

resource teacher and school board resource department

Keep open communication with the

students therapists so that you are consistent with the

use of strategies at home and school

Work hand in hand with the parents

Ideas

Websites for Teacher Support

The National Fragile X Foundation ( http://www.fragilex.org/html/links_for_teachers.htm ) has a list of website that they recommend teachers refer to. I have looked at each one and there are bits and pieces that I feel will be of great help when you do have a child with Fragile X Syndrome. These sights are also very helpful for every classroom as some provide dolch word lists and leveled guided readers.

References

• The Fragile X Research Foundation - www.FRAXA.org  • The National Fragile X Foundation - www.FragileX.org   • Wikipedia - Fragile X Syndrome – good diagram for causes - • http://en.wikipedia.org/wiki/Fragile_X_syndrome • Medicine Net - • http://www.medicinenet.com/fragile_x_syndrome/article.htm • National Institute of Child Health and Human Development -• http://www.nichd.nih.gov/health/topics/fragile_x_syndrome.cfm • Centers for disease Control and Prevention- • http://www.cdc.gov/ncbddd/single_gene/fragilex.htm • Your Genes, Your Health-• http://www.ygyh.org/fragx/whatisit.htm • Fragile X Research Foundation of Canada Website-• http://www.fragile-x.ca/default2.htm - • About Kids Health-• http://www.aboutkidshealth.ca/HealthAZ/Fragile-X-Syndrome.aspx?

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