Healthcare Topics

Driving safely sounds simple but it's a very complex task.  Brenda Bennett, CDI, CDRS and President of Transportation Solutions in Erie, PA contacted the Society in hopes of finding some secrets to helping women with TS learn to drive safely and pass the necessary driving tests.  We realized that there are no simple solutions but we have started the process of finding resources that may be helpful.    in Erie P              

Before beginning the journey of driving have a complete vision test to rule out any spacial issues that may interfere with safe driving practices.  Some people cannot drive because their eyes do not allow for the depth perception necessary for knowing how far away or fast other vehicles are going. 

The ideas below are ways to prepare for learning to drive.  It takes patience and practice but there are many things that parent's can do to prepare their young girls to adapt to driving more easily in the future.  Here are some ideas:

ACTIVITIES TO IMPROVE VISION PERCEPTION AND ATTENTION/MULTI-TASKING SKILLS

• Word searches.  Start by trying to find one word at a time, then two at once.  Time yourself and try to find two words at the same time in less than 5 minutes!
• Hidden pictures. 
• Scrapbooking.
• Big Brain Academy game for gaming systems.
• Traffic game (you have to get the red car out of the board)
• Bejeweled games on the computer.
• Lumosity.com website (you get 3 days free then there is a monthly fee).
• Eyecanlearn.com website is free and has a few fun perceptual activities.
• Play jacks.
• Play I-spy.
• Do difficult mazes.
• Play Jenga.
• Bean bag toss.
• Ball games that require timing.
• Play the passenger assisted activity game:
  • When driving, identify up to 4 things at a time:
    • First identify if anyone is behind you when the driver hits the brakes.
    • Then while still doing that, tell the driver whenever you see a speed limit sign.
    • Then while still doing the above 2, tell the driver when you see any stop signs as well.
    • Then while still doing the above 3, tell the driver when you see any traffic lights too.

(You should be able to do all 4 at once easily….eventually!!)

More on driving...

The number one tool that women with TS depend on in their cars is a navigation system.  Spatial abilities are related to directional sense which is key to driving safely and getting to and from where you want to go efficiently.  Navigation systems are available for use in your car, apps for cell phones allow for free use, some watches and other devices have navigational abilities as well. 

Hearing  Because of the high rate of ear and hearing problems and the effect they can have on a person’s quality of life (including their speech),everyone with TS should have their hearing and middle ear function checked regularly throughout life. It also is important that girls and women with TS protect their hearing by avoiding loud noises and using ear protection in loud environments.  Otitis media (ear infection) is extremely common in girls with TS particularly in infancy and early childhood. Aggressive treatment of infections is appropriate. The majority (50-90%) of TS women will also develop early sensorineural (nerve) hearing loss and may require hearing aids earlier than the general population.Ear infections and hearing loss are common in TS:

• In one study of girls with TS aged 4 to 15 years, 57% had some eardrum problem and 43% had hearing loss.
• Changes in the structure of the middle ear and eustachian tube (tube connecting the middle ear with the back of the throat) probably account for poor drainage and ventilation in the middle ear and easier movement of germs from the throat into the ear - all of which play a role in causing frequent middle ear infections (otitis media) and effusions (fluid in the middle ear), especially in early childhood.
• Middle ear effusions cause conductive hearing loss because sound does not move normally through an ear filled with fluid. Middle ear infections should be treated promptly with antibiotics.
• Placement of ear (tympanostomy) tubes should be considered if fluid in the middle ear has caused hearing loss for more than 3 months. Ear tubes drain fluid from the middle ear and restore hearing, decrease the number of ear infections and help prevent complications such as growth of tissue in the middle ear (cholesteotoma) and infection of the mastoid bone (mastoiditis).
• Swollen adenoids can block the eustachian tube, cause fluid buildup in the middle ear and cause trouble breathing, so they may need to be removed (adenoidectomy).

Another type of hearing loss – sensorineural hearing loss – also is common in TS.

• This type of hearing loss is related to the function of the inner ear, where the vibrations caused by sound waves are transformed to nerve impulses that travel to the brain.
• In the study mentioned above, 58% of the girls also had some sensorineural loss.
• This hearing loss may begin in childhood and appears to worsen over time, so that more than 90% of women with TS in their forties have some degree of hearing loss, with more than 25% of them needing hearing aids.

 Hearing Aid SupportThanks to Karyn Janis, a zealous TSSUS volunteer, we have added Starkey Foundation’s, “Hear Now” program. Hear Now is a national non-profit program committed to assisting those permanently residing in the U.S. who are deaf or hard of hearing and have no other resources to acquire hearing aids. Please visit http://www.starkeyhearingfoundation.org/hear-now.php. You may also go to http://www.starkeyhearingfoundation.org/ to check your hearing online. EarsSometimes girls with TS are born with prominent or mis-shapen ears.  There is no research directly related to the following article in regards to TS but it is an interesting new procedure for the ears. Ear Device Corrects Newborn Ear Deformities Without Surgery  

Genetically, TS is due to the absence of all or part of one sex chromosome, usually one X. This abnormality, also called monosomy X, is denoted medically as the 45,X (older literature used XO) karyotype, as opposed to the usual 46,XX female karyotype. Many, perhaps most, girls and women with TS are actually mosaic, meaning that they have cells with more than one karyotype. Often there is a mix of 46,XX and 45,X cells, and in this case the resulting clinical abnormalities tend to be milder than in 45,X TS. Mosaicism, especially 45,X/46,XX, is frequently detected by prenatal diagnosis (amnicentesis). Occasionally there is mosaicism for cells containing Y chromosome material - but not enough to cause male sexual features.

Girls with TS and Y chromosome mosaicism are at increased risk of developing a tumor of the gonads and should have their non-functioning ovaries removed.

Molecularly, most TS features result from having one rather than two copies of certain X chromosome genes. To date, one gene called SHOX has been clearly implicated in TS. Loss of one copy of SHOX is the main cause of short stature in TS. Identification of TS genes may lead to better treatments for short stature and other symptoms.  

How is Turner syndrome diagnosed?

Diagnosis is made through a test called a karyotype, which is usually performed on cells in the amniotic fluid before birth and on cells in the blood after birth. A trained specialist counts the chromosomes in the white blood cells and looks for abnormalities. Females normally have two X chromosomes (46,XX) and males have one X and one Y (46,XY). Turner syndrome individuals are missing all or part of one of their sex chromosomes. About half of girls with Turner syndrome have only one X chromosome (45,X). Another third have two X chromosomes, but part of one X is missing. Other individuals with Turner syndrome have a mosaic pattern: some of their cells are missing an X chromosome (45,X), while other cells have different chromosome composition (such as 46,XX) Turner syndrome may be diagnosed throughout the life span, including adulthood, if signs are subtle.

Signs that indicate a karyotype is needed can include:

• Fetal abnormalities such as cystic hygroma (fluid around the neck), or incidentally when a routine amniocentesis is performed (e.g., for advanced maternal age)
• Webbed neck (excess skin) or lymphedema (swelling of hands and feet) in newborns
• Specific heart problems in infants
• Slow growth and/or short stature
• Delayed puberty or amenorrhea (lack of menstrual cycles)
•  Infertility or menstrual irregularities

  How reliable are the FISH and the Karyotype tests?

It's important to understand that even though the classic TS karyotype is 45,X (completely missing the second X chromosome in all cells studied, like me), there are a number of variations. Mosaicism is one of these variations, and it means that they saw cells with at least two different chromosome configurations. The fact that your daughter's starts with 46,X just means that they saw at least one cell line that had 46 chromosomes. From that point the karyotype report probably gets even more confusing, as it gets into a lot of shorthand that the labs use to communicate what they see.

FISH and karyotype are studies done very routinely at a lot of different labs, in a standardized way. The combination of the two tests confirm each other. A geneticist or genetic counselor can help interpret your daughter's specific results for you. 

About 30% of girls with TS are born with a problem affecting the structure of the heart.Although these conditions often are diagnosed at birth or in early childhood, all girls and women with TS, regardless of age, should have a thorough physical exam and an echocardiogram or MRI of the heart to look for heart conditions as soon as they are diagnosed with TS, during early adolescence (12-15 years old), and every three to five years during adulthood.   The most common heart problems are a bicuspid aortic valve (the valve through which blood exits the heart into the aorta normally has three flaps, but in this case has only two) and coarctation (narrowing) of the aorta (the main artery leaving the heart).  If any problems are found, the child should be followed by a pediatric cardiologist (children’s heart specialist) for ongoing care. In some cases, the problem may need to be corrected with surgery, and in others, the cardiologist may just follow the child carefully.High blood pressure (hypertension) is another common condition in TS. Sometimes it results from a heart or kidney problem, but sometimes there is no known cause. High blood pressure may not occur until later in childhood or adulthood and may get worse with obesity and age. Women with TS should have their blood pressure checked regularly and follow their doctor’s advice, which may include diet, exercise and medication.Another heart problem, aortic root dilatation (enlargement of the aorta where it leaves the heart, often associated with weakness of its walls), is uncommon, but can have a devastating result – the layers of the weak walls of this major artery can separate from each other (dissection) or burst (rupture). This can cause internal bleeding, shock and even death if not diagnosed and treated quickly. The risk is greatest during adolescence and adulthood, and this can occur even in women who do not have any history of heart problems or high blood pressure (although those factors increase the risk). All older girls and women with TS – and their families – must understand that severe chest pain, even if it doesn’t last long, can be a symptom of this extremely serious problem. They should go to an Emergency Department immediately and have an MRI done to rule out aortic dissection. This condition is rare, and there is no need to live in fear of its occurrence – just a need to be aware of it so it can be diagnosed accurately and treated quickly if it occurs.Ritter Rules -- are life-saving reminders to recognize, treat and prevent thoracic aortic dissection, a deadly tear in the large artery that carries blood away from the heart. Named for actor John Ritter, who died of a thoracic aortic dissection, Ritter Rules combine knowledge with action. Know the urgency, symptoms, who is most at-risk and which imaging tests are required to diagnose this medical emergency.  http://johnritterfoundation.org/ritter-rules/  

Between 25 and 40% of individuals with TS are born with a condition affecting their kidneys (the organs responsible for filtering blood and forming urine). In some, the kidneys are an unusual shape (horseshoe) or are in an unusual position, and in others, the internal structure of the kidneys is affected (double urine collecting system is most common). These conditions may not have any effect on the girl’s health, but they may increase her risk of urinary tract infections, high blood pressure or other kidney problems. For this reason, all girls with TS should have an ultrasound exam of their kidneys soon after they are diagnosed. If any unusual findings are present, they should be assessed and treated (if needed) by a pediatric nephrologist (children’s kidney specialist). 

Girls and women with TS are at increased risk for a cluster of conditions sometimes called the “metabolic syndrome.” These include: high blood pressure; abnormal blood levels of lipids (such as cholesterol); non-insulin-dependent diabetes mellitus (NIDDM; also called Type II or late-onset diabetes); obesity; increased insulin secretion; and increased uric acid secretion (related to gout). Many of these conditions can lead to cardiovascular (heart and blood vessel) disease, so careful monitoring and prompt treatment of these problems (if they occur) throughout life is needed.Obesity is a common problem in TS, especially during adolescence and adulthood. Extra weight on a short person is very noticeable and can lead to teasing by others and a poor self-image for the girl.Obesity is associated with high blood pressure and NIDDM, and since a girl with TS is at increased risk for these problems to begin with, it is important for her to maintain a healthy weight.Diet and exercise are the keys to weight control in TS, as they are for everyone. Your child’s doctor or nurse can suggest a healthy diet and exercise program or make a referral to a dietitian for counseling. If you have a young daughter, help her develop good eating and exercise habits early in childhood – it’s much easier to stay lean than to lose weight. 

About half of people with Turner syndrome have large numbers of moles. Sometimes called nevi, these benign pigmented skin spots are like freckles, but darker, and sometimes raised above the skin surface. The number of moles sometimes increases during growth hormone treatment.Despite the higher quantity of moles, girls with Turner syndrome do not appear to be at increased risk for developing skin cancer. Even so, moles should be watched regularly for changes by the TS individual, and a dermatologist should check any moles that change in appearance or size, are irregularly shaped, or look suspicious for any reason. Sunscreen should be worn regularly to decrease the risk of skin cancerAbout half of people with Turner syndrome have large numbers of moles. Sometimes called nevi, these benign pigmented skin spots are like freckles, but darker, and sometimes raised above the skin surface. The number of moles sometimes increases during growth hormone treatment.Despite the higher quantity of moles, girls with Turner syndrome do not appear to be at increased risk for developing skin cancer. Even so, moles should be watched regularly for changes by the TS individual, and a dermatologist should check any moles that change in appearance or size, are irregularly shaped, or look suspicious for any reason. Sunscreen should be worn regularly to decrease the risk of skin cancer   

Mosaicismis defined as "a condition in which tissues of genetically different types occur in the same organism". For individuals with Turner syndrome, it means that the second X chromosome is not entirely missing. In a person with mosaic Turner syndrome, some cells have the normal number of 46 chromosomes, but other cells are missing one X or there are structural defects in the second X.

Many different karyotypes fall under the category of "mosaic". Some of the most common mosaic karyotypes are 45,X/46,XX and 45,X/46,XY. Other variations include:

·  Partial deletions: This occurs when part of the chromosome is missing.

·  Isochromosomes: The centromere, or center part of the chromosome, is supposed to separate a short arm from a long arm. An isochromosome means that the two arms are of equal length and the information in each one is genetically identical.

· Ring chromosomes: This occurs when the chromosome breaks at each end, loses its end segments and curls around to form a ring shape.

While there is still some question as to how and when any form of Turner syndrome occurs, it is believed that mosaicism always occurs after fertilization, when the embryo has between 2 and 100 cells. At this point, many organ systems and other tissues are still forming, and some systems may have the normal karyotype, while others may adopt the new or "abnormal" karyotype, resulting in an individual with mosaic Turner syndrome.

People with Turner syndrome should be familiar with their karyotypes for a variety of reasons. Generally speaking, individuals with 45,X/46,XX mosaicism have fewer and less severe symptoms of TS compared to individuals with 45,X karyotypes. Unfortunately, it is impossible to know what percentage of 45,X and 46,XX cells there are in various organs such as the heart, brain or kidneys. So, for each individual, the severity of Turner syndrome characteristics is unpredictable. For those with karyotypes that include all or part of a Y chromosome, it is important to investigate the possibility of tumors that can develop in the ovaries.

Because the severity and frequency of TS features can vary from individual to individual, it is important to discuss your karyotype and its implications with a qualified physician.

When asked about mosaicism and its implications for those with TS, Dr. Andrew Zinn, Associate Professor of Internal Medicine at the University of Texas Southwestern Medical School and Chair of the Medical Advisory Board stated, "I really believe in diagnosing and treating the patient, and not the karyotype... the problems associated with TS should be treated no differently in women with mosaic versus non-mosaic karyotypes."

The Turner Syndrome Guide for Families reads, "Every girl with TS is unique and no generalization will apply to every girl, no matter how accurate it is for the group." With respect to mosaicism, this statement is a fact. While it is easy to rely on generalizations about Turner syndrome and mosaicism, the truth of the matter is that each person with Turner syndrome is different, and her physical characteristics will be as different from other people with TS as her fingerprints.