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What It Is Turner Syndrome is the partial or complete deletion of
the second x chromosome leading to short stature, ovarian
failure (majority of cases), as well as cardiac and kidney
abnormalities. Rosenfeld et al. (1994) define Turner
Syndrome as “the combination of characteristic physical
features and complete or partial absence of the second sex
chromosome.” In the United States, the frequency of
Turner Syndrome is estimated to be between 50,000 to
75,000. TS is most often diagnosed when an infant or
child doesn't grow as fast as expected or “falls off”
the growth chart. For lucky individuals, TS can be
diagnosed upon birth, when an alert neonatologist or
pediatrician notices the characteristic puffy hands and
feet, broad chest, low hairline, or peculiarly shaped ears
of the infant upon birth. Once correctly diagnosed, which means confirmed by DNA analysis (karyotype), further evaluations are done to rule-out other medical issues. These tests include a renal sonogram and urinanalysis, (to rule-out horseshoe kidneys or other structural abnormalities; 39% incidence), echocardiogram and EKG (to diagnose any heart malformations, 55% incidence) and blood tests for thyroid functions (10 - 30 % incidence (Rosenfield, 1992). Monitoring of blood pressure should continue through out life since hypertension is common. Repeated ear infections (otitis media) are very common and should be treated aggressively. Lymphedema is also common, but usually decreases over time. Dealing with TS Waiting for the results of all these tests can be
frightening and anxiety producing. As the news arrives, a
parent will have enough information to begin their plan of
care and coping. Often it takes a while to just come to
terms with the diagnosis or label of Turner Syndrome
because most people have never heard of it. There also are
decisions to make about who to share the diagnosis with,
what others may think etc. Some parents find that their
family is not as supportive as they hoped. Since Turner Syndrome never goes away, and different illnesses or complications develop over time, it can be a huge life stressor. From conversations with many TS individuals and
parents, it is very clear that no two TS individuals will
be exactly alike. Just as God created everyone in a
unique way, this applies to the TS child / teenager /
adult as well. This can be both good and bad. One negative
about this wide variance is that it can lead to further
feelings of isolation. It is very common for TS teenagers,
and their parents, to feel as if no one understands them;
no one really “gets it.” Another negative about the
uniqueness or rarity of TS is you may never meet another
TS child/ person, unless you attend a chapter meeting of
the national organization or attend a national TS
conference. In other words, one has to put forth extra
effort to connect in some way to other TS people. This may
be difficult depending on your income level and general
stress level of your family. Chat rooms have been useful
to many people for support. Currently, there are several
chat rooms for TS parents and others related to the TS
person. These Internet connections have been very helpful
to many families. On the positive side, parents can encourage their daughter and affirm her strength because the majority of TS pregnancies do not survive. Ninety-nine percent are spontaneously aborted in early pregnancy. Therefore, the fact that she is here--that she exists--means that she has beaten the statistical odds, which makes her life even more special and deserving of celebration. Growth Hormone When and if to start growth hormone is a decision that is made between the parents and the pediatric endocrinologist. For many parents, it is a difficult decision because the injections are not just for a month, but you are making a commitment for years of injection therapy, as well as the monitoring every 3 - 4 months. For others who don't have insurance coverage for the growth hormone, striving to find the funds or raise the funds to pay for this expensive drug becomes their goal. Some of the drug companies that make growth hormone will supply some for free, but this decision is made confidentially. The recommended starting dosage is 0.05mg/kg/day. Once
the decision is made to begin therapy, the next hurdle is
learning how to mix up the diluent and administer the
injection/ “shot”. The nurse at the endocrinology
clinic will do the initial teaching regarding the
administration of the drug. The majority of parents have
never given injections before, so they have to get over
any anxiety of needles or worry of causing pain. In the
beginning, many kids are fearful and have to be
restrained, bribed or distracted to complete the
procedure. We have discovered that the Nutropin does not
sting like other growth hormone medicine, since it is not
pre-mixed. The preservative in some ready-to use-
formulas, can cause much more burning and stinging. The
injection is given once per day, 6 out of 7 days per week
using a short, or subcutaneous needle. The medication
should remain refrigerated. This medication cannot be
found at your local, retail pharmacy. It is mail-ordered
and specific delivery dates are agreed upon. This is a
very expensive medication and only a 30 day supply will be
shipped at a time. It is a process that will be repeated
countless times over the next few years. Therefore,
whatever arrangements you can make to help the process go
smoothly is time well spent. We arranged for my husband's
office address to be the delivery site because someone is
always there to sign for the delivery. Growth hormone therapy (Nutropin, Protropin, or Somotropin) is usually continued until a satisfactory height is obtained or the bone age is greater than 14 years of age and/or the patient has grown less than 2.5 cm over the previous year. Very few, if any, side effects are reported. Painful joints may occasionally be seen, during periods of rapid growth. Dental Issues There are several specific dental issues to be aware of with Turner Syndrome. Personal experience has shown that the early eruption of teeth (both baby teeth and permanent) is a real possibility. Additionally, the research results published by Kirt Simmons DDS, PhD, University of North Carolina state that “it is common for Growth Hormone Deficient children to keep their baby (primary) teeth longer (2 - 5 years usually) than average, so they may be 10 - 12 years old before losing any baby teeth. These children may also be missing adult teeth...” Therefore, it is wise to see a dentist and orthodontist at earlier ages than the normal population. Due to a high arched palate, many Turner girls will require a palate expander. This is a device that fits behind the upper teeth, over the roof of the mouth. One expander has a tiny key, that you turn to move the expander, ever so slowly, wider and wider. The orthodontist fits the expander, and will instruct the parents on how often to turn the key. Initially, the expander can be very frustrating because the child has to learn to eat differently (food gets trapped in the expander) and even talk differently (sometimes they will lisp until they learn to make their tongue adjustment around the device). Normally, after the upper palate is the correct width (3 to 6 months), the orthodontist will then begin the braces/orthotics. The teeth also are prone to having small roots which the orthodontist should be informed of. Flipsson, Lindsten & Almquist (1965) have reported an increase of root re-absorption. Improved facial jaw growth has been reported by researchers who followed Turner Syndrome patients receiving Growth Hormone therapy for over two years. In summary, there are unique dental factors and features associated with Turner Syndrome and Growth Hormone Deficient individuals. It is prudent to seek early dental x-rays and orthodontic advice. Behavioral / Personality Traits It is a common question for parents of Turner Syndrome girls to ask if there are similar behavioral traits or personality traits with this syndrome. Talking with many parents, and reviewing the literature, there are several common patterns that emerge. Parents often describe their infant or child as one who: never sleeps or has difficulty sleeping; is always on the go; has mood swings; is intense or spirited; has no “middle” mood; has difficulty with novel situations; needs assistance in transitioning to new situations; is clumsy, socially inept, “strong-willed” oppositional, and stubborn. At the same time, these kids have been described with many positive attributes: smart, articulate, kind, sweet, possessing remarkable vocabularies, gifted in some areas; voluminous talkers; determined, and with a desire to please. Of course, there are exceptions to these descriptions due to the unique variance, or heterogeneity, within this syndrome. Elizabeth McCauley et al. (1995) have published several
articles describing behavior and self-esteem with Turner
Syndrome girls. She has specifically studied the
pre-teen and teenage years. Similar findings were
noted as described above. McCauley found statistical
differences in the following areas: Under the category of social competence, parents reported Turner Syndrome girls “differed significantly from the comparison group on the scales that measure interaction with friends, and school problems. . . . Social problems included fewer friends, less time with friends, less positive relationships with peers, siblings, and parents. School problems included poor academic achievements, need for special education, and grades repeated.” The behavioral problems category was significant for hyperactivity items such as “acts too young; cannot concentrate; cannot sit still, restless, or hyperactive; daydreams; gets teased; impulsive; not liked by other kids; poor school work; and prefers being with younger children.” McCauley's research confirmed previous studies done with Turner Syndrome girls. However, on a more positive note, she ended her discussion by stressing that “social skills training, academic tutoring, and hormone therapy, might play an important role in reducing the potential negative impact of the types of behavioral risks identified.” The hyperactivity and other behaviors that are typical of Turner Syndrome girls have led many to believe they have ADHD. Some children have been diagnosed with ADHD and are prescribed medications for this diagnosis. However, many professionals, including pediatric psychiatrists and pediatricians, are unfamiliar with Nonverbal Learning Disability, as well as TS. They have not considered how many characteristics of NLD in girls with TS actually may more accurately be described as NLD. This idea will be elaborated upon on the Education/Learning Differences page of this website. Related Web Sites
Turner Syndrome
Society of the United States
(www.turner-syndrome-us.org) References "Health Supervision for Children With Turner Syndrome (RE9543)."
(1995) American Academy of Pediatrics: Policy Statement, Pediatrics, 96 (6), 1166- 1173. Berch, D. (1989). Psychological Aspects of Turner Syndrome. Adolescent and Pediatric Gynecology, 2, 175 - 180. McCauley, E., Ross, J., Kushner, H., & Cutler, G.
(1995). Self-Esteem and Behavior in Girls with Turner
Syndrome. Journal of Developmental and Behavioral
Pediatrics, 16 (2), 82 -88. For More Information MMFK is available for fee-based private consultation, lectures, and speaking engagements. For more information and fee schedule, please contact us. |
Calvin Coolidge |
In many cases, the
physical features are so subtle, that TS is not diagnosed
until the teen doesn't start puberty and is referred to
the endocrinologist for evaluation. So TS can present
itself in a number of different ways. Sometimes, a
concerned parent is the first to point out the problems to
the pediatrician, such as feeding difficulties, low
weight, and irritability.
This may be due
to several factors, such as the fact that the TS child
"looks normal and acts normal” so your family
downplays the impact of the diagnosis, or they really don't
know what to say, so they say nothing. And then some
grandparents can be in denial... not wanting to admit that
anything “serious” could be wrong with their
granddaughter. In addition, some parents may cope by using
denial also. This can be effective until a new health
issue arises such as nephritis or failure to grow, which
forces them to re-access the healthcare system. At
that point, all the emotions may come tumbling down and
the parents have to grieve again for their imperfect child
or for the disappointment and pain their child may face.
