Chapter 4: Fragile X Syndrome
Our Special Olympic Superstar Athlete with Fragile X
Syndrome is Jonathan
"When Jonathan was a little
boy, he'd stay alone in his room, never wanting to talk or interact with family
members or anyone else. He spent most of his time lining up his toys in
straight lines. Like other children with Fragile X, he avoided eye
contact and shunned any physical contact, even with loved ones.
When Jonathan's parents got him
started in Special Olympics, this gave him a unique outlet. The coaches
understood his disability and helped him find a comfort zone -- and soon he was
playing whatever sport was in season -- softball, speed skating, golf, swimming
and tennis. He began making direct eye contact and even shaking people's hands,
despite his tactile sensitivity issues.
The lessons he has learned through
his sports training and practice have had impact on other aspects of Jonathan’s
life. He began to be more interested in school and he learned now to persevere
– and not give up on something if it seems difficult. He also began setting
realistic goals for himself, and learned that if he works hard and is
determined enough, he will eventually succeed - just as he did in sports.
Jonathan has graduated from
high school with an academic diploma and completed an associate’s degree in
computer science, persevering through eight years to earn that degree. He has
also been a long time employee of Publix Supermarkets. These are
accomplishments that his parents were told he could never hope to achieve. Says
mom, Kathy: "We truly believe that his personal success, his
transformation, is due primarily to his participation in Special
Olympics.""
 |
| Jonathan after winning a medal at the Special Olympics. (http://www.specialolympics.org/Sections/Who_We_Are/FragileX.aspx) |
Diagnosis
Fragile X Syndrome is a developmental disability caused
by an expansion mutation within the Fragile X Mental Retardation gene. This
mutation of the gene on the X chromosome causes limited mental capabilities.
The diagnosis of Fragile X Syndrome is confirmed by molecular testing of the Fragile
X Mental Retardation gene. This testing can be done through prenatal testing.
For full Fragile X Syndrome to be present they must have a full mutation (more
then 200 repeats of the CGG trinucleotide in the individual's DNA). Fragile X
Syndrome is a Sex linked disorder and therefore is passed by sex chromosomes,
in this case the X chromosome. When there is medical history of the disorder in
the family, they can be consulted on the likelihood of their baby inheriting
the disorder. (http://www.aafp.org/afp/2005/0701/p111.html;
http://www.specialolympics.org/Sections/Who_We_Are/FragileX.aspx)
As females have two X chromosomes their bodies
are still able to produce some Fragile X Mental Retardation Protein (FMRP) and
therefore reduce severity of symptoms. (http://www.specialolympics.org/Sections/Who_We_Are/FragileX.aspx)
Approximately 1 in 4,000 males and 1 in 8,000 females are
diagnosed with Fragile X Syndrome. (http://www.specialolympics.org/Sections/Who_We_Are/FragileX.aspx; http://ghr.nlm.nih.gov/condition/fragile-x-syndrome
)
When a baby
is born, certain physical characteristics and health concerns will become
prevalent in the child.
Outward physical characteristics and health concerns
This
genetic disorder presents itself physically mainly after puberty is hit. During
puberty these individuals often develop a narrow face, larger head in
proportion to their body, large ears, more flexible joints, looser connective
tissue, flat feet, a prominent forehead, and males will often have larger
testicles after puberty (called macroorchidism). (http://www.fragilex.org/fragile-x-associated-disorders/fragile-x-syndrome/;
http://www.specialolympics.org/Sections/Who_We_Are/FragileX.aspx)
Fragile X
Syndrome is a known genetic cause of Autism. Although not all individuals with
Fragile X Syndrome have Autism, nor does all Autism stem from Fragile X
Syndrome as Autism is caused by both environmental and genetic factors. Tremor/
Ataxia Syndrome is a condition that creates balance, memory, and tremor
problems in older males and sometimes females. This disease is caused by the
premutation of the Fragile X Mental Retardation gene.
Primary Ovarian Insufficiency can also be caused by
Fragile X Syndrome. This disease causes decreased ovarian function which often
leads to infertility and/or early menopause in females. (http://www.fragilex.org/fragile-x-associated-disorders/)
The increase in size of the testicles, macroorchidism, does not lead to any
fertility issues. The males will pass along the gene for fragile x syndrome
only to their daughters as it is an X linked chromosome trait. (Weber, 2000)
Individuals with Fragile X Syndrome are also more
susceptible to ear infections. Recurrent ear infections are common, called
otitis media, are due to these people having collapsible eustachian tubes which
run from the ear to the back of the throat, and are meant to drain fluid. As
the tubes collapse, the fluid is unable to be drained and therefore bacteria
grows causing the infection. (Weber, 2000)
Due to their
loose and flexible joints, these individuals are more likely to develop
scoliosis, a curvature of the spine, or have joint dislocations. The loose
joints are mainly due to having looser connective tissue. Most joints work
properly because of the ligaments restricting their range of motion to a set
amount. Ligaments are made of thick fibrous connective tissue. When this tissue
is loose, the whole ligament is loose thus increasing susceptibility to injury
and more specifically joint dislocation. (Weber, 2000; http://www.fragilex.org/wp-content/uploads/2012/08/Physical-Problems-in-FXS2012-Oct.pdf)
Heart
conditions are present in approximately 50% of individuals with Fragile X
Syndrome. Most common is a mitral valve prolapse. The mitral valve, which separates
the left atrium and left ventricle, can open upwards when the heart contracts,
allowing a back flow of blood. This can lead to extra stress on the left
ventricle and can be damaging when recurring over a long period of time.
(Weber, 2000)
Vision
concerns including near sightedness, farsightedness, and strabismus can be prevalent.
Strabismus occurs in 10-30% of children with Fragile X Syndrome due to weak eye
muscles which creates difficulty in focussing both eyes on a single object.
This can require surgery if severe or it will result in permanent vision loss
in the affected eye. (Weber, 2000)
Seizures
occur in up to 20% of males, less so in females but still happen. These
seizures are brought on quickly, caused by periodic unusual bursts of
electrical activity within the brain. (Weber, 2000) Sports activities are still encouraged even when an individual can have
a seizure disorder. The exercise can actually help with seizure frequency and
severity. Being in shape and having a feeling of well-being has been determined
to help reduce seizure frequency. Individuals can gain more control over their
seizures as they enter into a routine of regular exercise and improve their
self-esteem , self-control and social integration which can help reduce stress,
fatigue, depression, joint or muscle pain, and sleeping problems which could be
triggers for seizures. (http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Epilepsy_and_exercise)
Despite
health challenges the individual faces, physical exercise is important to
maintain as it is beneficial to overall health. The type of activity needs to
be suited for individual needs. Physical activity can have positive impacts
physically as weight is maintained at a healthy level, muscles can be
strengthened to support loose joints and overall fitness has been shown to
reduce seizure frequency. (http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Epilepsy_and_exercise)
 |
| Brain while functioning normally, and when having a seizure. (http://www.drugs.com/health-guide/febrile-seizures.html) |
Affects on Mental Abilities
The affect
on mental abilities varies and can range from learning disorders to full
intellectual disabilities. This can slow developmental stages such as learning
to talk and communicate. Their developmental delay also makes it more difficult
to read body language, make eye contact, concentrate and can become very afraid
or anxious in situations. (http://www.specialolympics.org/Sections/Who_We_Are/FragileX.aspx)
Males in particular may have trouble
paying attention or have aggressive behaviour. Females may act shy around new
people, or those they have not developed a long relationship with.
A clinical report from the American Academy
"Features of
attention-deficit/hyperactivity disorder, including hyperactivity,
inattentiveness, distractibility, restlessness, and impulsivity, are present in
80% of patients with fragile X syndrome. Affected children also can exhibit
anxiety-related symptoms including obsessive-compulsive–like and preservative behaviours.
Emotional liability is common. Aggressive and self-injurious behaviours can
occur, related to a difficult temperament, with irritability and frequent
temper tantrums. Hypersensitivity to sensory stimuli can lead to heightened and
prolonged arousal in situations in which there is excessive auditory, visual,
or tactile stimuli. This behaviour can lead to an increase in tantrums,
hyperactivity, oppositionality, and restricted verbal output. On the other
hand, affected males often have a good sense of humour, are persistent and
hardworking, and have an endearing quality."
(http://pediatrics.aappublications.org/content/127/5/994.long)
Physical
activity can help channel a great amount of the excess energy or hyperactivity
of individuals with Fragile X syndrome. Mental focus can also be improved
through the hands on approach of being physically active and learning to use
the body for specific movements. (Weber, 2000)
Coaching and Training Methods
The Special Olympic Coach Oath
“In the name of all coaches and in the spirit of sportsmanship,
I promise that we will act professionally, respect others, and ensure a
positive experience for all. I promise to provide quality sports and
training opportunities in a safe environment for all athletes.”( http://sonc.net/oaths-codes/)
Coaching
methods for Fragile X Syndrome are very similar to those of coaching for Autism
as the two developmental disorders are closely related. However, special
attention needs to be given to the individuals who are prone to having
seizures. Swimming is not a good idea for these athletes. William R. Turk, MD, chief of the
Neurology Division at the Nemours Children's' Clinic in Jacksonville , Florida
Therefore coaches must be encouraging in their training
sessions focussing in on the individuals abilities and reinforcing ideas with
positive feedback to help improve the athletes performance as well as their
mental state. This leads back to Terry Orlick's wheel of excellence and trying
to create a chain of positive feedback in the mind, eliminating distractions
and being fully focussed and being fuelled by belief and commitment to give any
performance full energy and effort.
When coaching individuals with
Fragile X Syndrome, it is important to help them find their comfort zone, a
place where they can play and not become overly anxious or nervous. (http://www.specialolympics.org/Sections/Who_We_Are/FragileX.aspx)
When coaches develop a strong
relationship with their athletes, they can help their athletes with their
mental focus and having a positive self-image. By participating in sporting
events where they can excel, a feeling of accomplishment can be achieved and
lead to psychological positive impacts including a greater desire to try new things
and be more willing to participate.
 |
| Athletes who have strong relationships with their coaches perform better because they know someone believes in them. (https://www.facebook.com/photo.php?fbid=10152951432728782&set=pb.10331123781.-2207520000.1402462225.&type=3&theater) |
Abilities in Designated Sports
Abilities in specific sports
once again depends more on the individual than the fact that they have Fragile
X Syndrome. All individuals with Fragile X Syndrome should avoid contact sports
as they are more prone to injuries, in particular joint dislocations, due to
their loose ligaments. (Weber, 2000)
Individuals
prone to seizures should avoid rhythmic gymnastics, swimming, diving, and
weight lifting. All of these would prove to be dangerous situations should a
seizure arrive. Special Olympics referees are all well trained and able to take
care of seizures should they happen in a game situation. Weightlifting is also
a bad choice for individuals with Fragile X Syndrome overall due to their loose ligaments. (http://www.webmd.com/epilepsy/guide/children-sports-safety)
Their willingness to participate in
other sports team or individual, depends on the person wishing to play. Sports
teams can provide a sense of belonging and give social experiences, whereas
individual sports can allow the person to gain better understanding of their
own body, their capabilities, and focus on being athletic while not having to feel
uncomfortable due to others around them. (http://www.specialolympics.org/Sections/Who_We_Are/FragileX.aspx)
Through finding a sport that is best
suited for the individual, that person gains physical health benefits, mental
benefits, such as better mental focus or the ability to participate as a team
member, and social benefits as they learn how to show appreciation for others.
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