Presentation Summaries
Turner Syndrome Society of Canada 27th Annual Conference May 23-25, 2008 Toronto, Ontario
Dr Shelli Kesler
Summary of presentations by Dr. Shelli Kesler, “Understanding and Appreciating Turner Syndrome” Presented at the 5th Biennial Family-focused Conference on TS held in Vancouver, BC on Oct. 27th 2008 (based on the work of : Allan Reiss, MD, Shelli Kesler, PhD, Joachim Hallmayer, MD, Kirk Neely, MD, Booil Jo, PhD and Bria Dunkin, MS at the Center for Interdisciplinary Brain Sciences Research, Stanford University, School of Medicine) Summary by Jaye Kerzner, BC Chapter, Turner Syndrome Society of Canada Dr. Kesler began her presentation by outlining the age-old debate in science, that is, “How much does nature (genetics) or nurture (environmental factors) affect who we become? Most researchers would now agree that both nature and nurture affect an individual. In the case of Turner Syndrome (TS) the question becomes to what extent does the missing „X‟ affect the behaviour and thinking (cognition) of a girl or woman with TS and, to what extent do environmental factors (prenatal events, parenting, education, peer group, nutrition, etc.) affect behaviour and thinking? The position of this research team is that TS is a “risk factor” for certain cognitivebehavioural problems; but TS does not “cause” those problems. [Editor’s note: This is a subtle, but important difference because it suggests that the behavioural and thinking challenges associated with TS are not solely due to gene differences.] Dr. Kesler then posed the question, “When attempting to understand the thinking and behavioural problems in TS, are descriptive diagnoses such as Nonverbal Learning Disabilities (NLD) and Attention Deficit Disorder (ADD) helpful? This research team believes that these labels are not at all helpful because, in their words, “TS is a diagnosis with clear biological markers and increasingly well understood disease mechanisms … whereas NLD and ADD are descriptively defined” (meaning that a diagnosis of NLD and ADD are made by observing certain behaviours). The team thinks that NLD and ADD may have different neurobiological and neurogenetic factors underlying them and that using the NLD label to describe the cognitive and behavioural challenges of people with TS distracts from the real issues of TS. To put it another way, the concern is that, although the learning challenges evident in girls with TS may look similar to NLD, effective strategies for dealing with each may be different. Therefore, the approach of these researchers has been to first, focus on the neurobiology of TS (what is going on in the brain of TS girls) and then to try to identify strategies to enhance their thinking processes based on those observations. This led into the second keynote address by Dr. Kesler.
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The second presentation started with a review of the known cognitive features of TS, namely, that girls with TS: 1) nearly always have a normal IQ (individuals with TS who have severe learning problems may have unusual genetic characteristics), 2) tend to have a higher verbal IQ than performance IQ, 3) often have a strength in verbal skills and 4) often show a weakness in visual memory, visual-spatial skills and executive functioning (planning and organizing skills). The psychosocial features of girls and women with TS were also summarized. Dr. Kesler noted that physical well-being (how healthy the person is), the pattern of sexual maturation and height clearly affect behaviour. She also noted that the literature suggests that individuals with TS are at increased risk for 1) attention problems, 2) impaired face and emotion processing (difficulty “reading” social cues), 3) problems with peer relations, and perhaps 4) anxiety and depression – although this last point is not clearly established in current research literature. Dr. Kesler moved on to pose the question, “What can we do about the thinking and behavioral problems of TS girls if they are present?” She then listed some recognized general strategies for addressing thinking and behavioural challenges, namely, early identification of problems, family or parental counseling and guidance, treatment of behavioral problems with therapy and (sometimes) medication and placement in an optimal educational environment. Treatments for psychosocial challenges are not as clear cut, since there has been little research in this area. It appears that these strategies may be helpful: 1) general coping and adaptive skills training (focusing on dealing with medical issues), 2) social skills training (focusing on face processing & body language interpretation), 3) stress management training, 4) efforts to improve self-esteem and 5)developing effective learning and organizational strategies to compensate for cognitive weaknesses. The research team that Dr. Kesler is part of believes that much research still needs to be done to find new ways to identify early on whether a girl with TS will have some of the thinking challenges associated with TS and, research also has to be done to find ways to help girls and women with TS optimize their thinking and develop their social skills. They feel that the guiding questions for future research are:
What are the specific genetic, biological and environmental factors that contribute to cognitive and behavioral
strengths and weaknesses?
Can we identify brain correlates of these factors and use them to improve treatment specificity and
effectiveness? Which of these factors predict response to particular treatments? What treatments are most likely to be of benefit? Who is most likely to benefit from early identification and treatment? How can we increase the likelihood that each individual with TS will achieve their maximum potential? What is the brain structure and function in TS and how can we develop a model for understanding this?
Dr. Kesler went on to describe some of the work that their team are working on at Stanford University. [Editor’s note: One of the key researchers of this team, Dr. Allan Reiss, has been involved in brain imaging research for about 20 years, much of it trying to discover how the brains of those with certain genetic conditions function differently than “typical” brains in an effort to understand differences and to formulate effective treatments for dealing with thinking challenges and behaviours which are problematic for these individuals. Dr. Reiss has also been a medical advisor on the US TSS board for many years]. Currently the research team at Stanford is using brain imaging (pictures obtained by using magnetic resonance imaging or MRI) to see what parts of the brain are being used when subjects are given certain tasks. They have discovered that people with TS have certain differences in their brains and that they used their brains differently. They have determined that the volume of the parietal lobe (where visual spatial processing occurs) tends to be smaller and the temporal lobe (where verbal processing happens) tends to be enlarged in girls with TS. In a study of math function, TS girls also showed greater activation in frontal-parietal regions of the brain during simple math tasks but less activation during harder tasks (Kesler et al. 2006 Cerebral Cortex). A study of verbal and visual-spatial working memory led to the conclusions that there is some frontal-parietal dysfunction in TS and that it active storage of material in the working memory is impaired. Collectively, the brain imaging results suggest “network” issues – certain pathways or connections in the brain are not as well developed in girls with
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TS. There appears to be a “disconnection” between parietal and frontal regions associated with visual spatialexecutive function in TS. People with TS tend to engage the parietal- temporal lobe of the brain (where verbal skills reside) and do not tend to engage the parietal-frontal pathways (where visual skills arise) when doing visual-spatial tasks or executive functioning (organizing) tasks. This way of using the brain shows that they are compensating, but they are less efficient and this compensation may only work for lower level tasks. The team is also working on developing a cognitive Interventions for girls with TS. They are trying to find out if they can “increase parietal-frontal connectivity in individuals with TS, thus improving planning ability and math skills”. They are doing this by using a cognitive intervention that they have developed which involves asking the individual to perform specific skills and then asking that person to practice the skill in small, increasingly difficult steps [which the author of this summary likens to “brain physical therapy”]. The researchers believe that this intervention works by taking advantage of the brain‟s neuroplasticity – the ability of the brain to develop new connections between different parts of the brain by exercising the brain, much as you would exercise a muscle. As the brain encounters mental challenges it learns new things and develops more efficient and effective brain networks, a process that can then be measured with functional MRI images. Early results of their work demonstrate that girls with TS can be taught to achieve much higher accuracy on certain cognitive tasks and improve the efficiency or speed in which they perform correct tasks. MRI comparisons show that the girls can actually be taught to activate different parts of their brain! Continued research is being done to determine how long this effect will last. The team is currently recruiting additional volunteers for their ongoing study of brain function and TS. A flyer with study inclusion criteria, a brief outline of what is required of participants, and contact information can be obtained by contacting: Bria Dunkin briad@stanford.edu toll free 888-411-2672
[Final Editor’s note: I have tried to capture accurately the flavour of this presentation from my own notes and recall and the presentation slides. This information should not be reproduced in any other format without the header and footer noting the date of the presentation and the conditions under which this summary was made]
Sharon L. Guger, Ph.D., C. Psych. Department of Psychology, The Hospital for Sick Children It’s More than Math: Specific Learning Disabilities and Social Challenges in Girls with Turner Syndrome
The cognitive profile of individuals with Turner Syndrome is well established in the scientific literature. Individuals with TS typically demonstrate intact verbal skills relative to weak visual-spatial skills and this discrepancy is considered a key feature of the TS cognitive phenotype. As well, difficulties with attention, working memory, visual memory and social cognition have been documented. These relative strengths and weaknesses are typically seen early on and throughout the school years. There is recent evidence to suggest, however, that there are unique strengths and weaknesses that are missed when using an umbrella description of „strong verbal skills versus weaker non-verbal skills‟. As well, the cognitive profile is highly variable among individuals with TS and difficulties are specific rather than widespread across settings. So, while general descriptions of strengths and weaknesses are a good place to start when considering if an individual with TS has academic and social needs, they do not necessarily help clarify what those needs are on a practical level. The workshop will review recent findings describing specific difficulties within each of the identified domains affected in TS - mathematics, visuospatial function, executive function, and socialization. An effort will be made to move beyond general descriptions and discuss the specific learning and social needs of individuals with TS and explore the issues to be considered when selecting appropriate supports in optimizing learning and social success. Finally, a timeline for assessing and supporting individuals with TS before, during, and throughout the school years will be presented.
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The Effects of Turner Syndrome on Women’s Self-Esteem and Body Image Stephanie Cragg
This study regarding Turner Syndrome and its effects on women‟s self-esteem and body image was conducted by myself along with the supervision of Dr. Kathryn Lafreniere. I am an undergraduate psychology student who was diagnosed with Turner‟s Syndrome at the age of four. While examining books and academic journal articles on previous studies of women with Turner Syndrome I noticed that there was a lack of information on Turner Syndrome in relation to self-esteem and body image, and I believed that this was an area that deserved further research. This study examined whether women with Turner Syndrome showed a difference in their levels of selfesteem and body image as compared to women without Turner Syndrome. Turner Syndrome is a disorder that affects approximately 1 in every 2,500 females, and results from a completely missing or partially missing X chromosome. The most prominent characteristic of women with Turner‟s Syndrome is their short stature. Participants were 6 women with Turner Syndrome, obtained through the Turner Syndrome Society of Canada and a Turner Syndrome support group, and 63 women without Turner Syndrome who were recruited through the University of Windsor Psychology Department participant pool. All participants ranged in age from 18 to 30. Participants completed a questionnaire which included the Rosenberg Self-Esteem Scale (Rosenberg, 1965), the State Self-Esteem Scale (Heatherton & Polivy, 1991), and the Body-Esteem Scale (Mendelson & White, 1982). It was hypothesized that women with Turner Syndrome would have lower self-esteem and lower body esteem than women without Turner Syndrome. It was also hypothesized that women with Turner Syndrome at the taller end of the height range would have higher levels of self-esteem and body image than women at the shorter end of the height range. Findings indicated that women without Turner Syndrome scored significantly higher in body esteem and social, appearance, and overall self-esteem, compared to women with Turner Syndrome. There were no significant differences between the two groups on performance self-esteem. Height was not found to be positively correlated with self-esteem or body esteem in either group, but the small sample size may have contributed to the inability to detect this finding in the Turner Syndrome group. Overall, I was very pleased with the results that were discovered. Two possibilities as to why women with Turner Syndrome scored lower in body esteem as well as social, appearance, and overall self-esteem were mentioned by some participants. One woman with Turner syndrome mentioned that many people she interacts with see her as “cute”, and do not treat her like an adult woman. Another participant mentioned not being able to have children as affecting her self-esteem and body image. The results of this study demonstrate that special attention needs to be paid to promoting self-esteem and positive body image in girls and women with Turner Syndrome. This could be done by encouraging children and adolescents to sign up for activities that they are interested in, as well as pointing out successful women who are on the shorter end of the height spectrum.
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How Turner Syndrome Has Affected My Life By Larissa, age 15 Winning entry, preteen/teen essay contest
I have had Turner Syndrome since birth, but it never really affected my life. As a kid there were things like not being able to sit on the toilet without a stool or needing extenders so I could use the light switches, but I never really saw myself as different than anyone else. On the first day of Kindergarten, my small stature became apparent when a teacher asked me where my parents were. She didn‟t think I looked old enough to be school-age. I got over this quickly, and I befriended the other short girl in my class. To this day we are still best friends. It was an awesome moment recently for me when I noticed I was taller than her, but I won‟t let that affect our amazing friendship. As I progressed through childhood, Turners continued to be a small fact of life like having blonde hair or green eyes. It never really slowed me down. I enjoyed figure skating for many years, but switched to hockey because it was getting progressively harder to follow the beat in the music. I do have a hearing loss and wear hearing aids everyday. This has presented challenges, but it has positive affects as well. One of my funniest elementary school memories is when my teacher forgot to turn her fm microphone off while having a personal conversation with another teacher in the hall. Our whole class heard her conversation! She was blushing pretty bad when she came back into the room and found out. In grade five, I had the option of joining the new Extended French program at our school. I had always succeeded in academics, so I decided I wanted the extra challenge of learning half of my subjects in French despite concern from the school principal due to my hearing. I am so glad I decided to do this because I still love it in high school and am starting to learn Spanish as well! Another challenge I took on despite my hearing loss was music lessons. At our school they started giving lunchtime lessons. I choose clarinet and loved it so much, I became one of only three grade nines in my high school‟s senior orchestra last year. I continued in music this year, learned to play the oboe, and got an A+ on my exam solo! Turners presented me with a new set of challenges as I entered my teen years. I discovered I was the only one not developing so I started wearing padded bras in order to look like my classmates. I am happy to say after starting estrogen I no longer feel the need to. During my life I have never been one of the “popular” girls. I don‟t dwell on it because I love my small group of friends. I had a boyfriend in grade 8, and even though I don‟t now, I remind myself that I want a quality guy and not just any old loser. I am even glad to be “unpopular” sometimes because it means I get invited to less crazy parties and have less chance of doing something stupid that I will later regret. As Tyra Banks so often says, “So what!” So what if we have Turners and are shorter than our peers. So what if you‟re not that skinny blond barbie doll who‟s queen bee at school. Does it really matter? Should that stop you from following your dreams? Some people think I‟m crazy wanting to go to medical school because of my hearing and all, but I am still going to do my best to get there because that is my dream. I‟ve never let Turners stop me before, and I don‟t ever plan to.
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