One of the main goals of the Turner Syndrome Foundation (TSF) is to educate medical professionals and institutions on important research that can help patients with Turner Syndrome (TS). In this post, we summarize the research paper “Social Skills and Relationships in Turner Syndrome,” which examines topics relating to the behavioral, social, and mental health components of TS.
Social Effects of TS
TS is a rare genetic mutation that affects 1 in every 2,000 female births and involves the partial or complete loss of an X chromosome. TS can cause various physical health concerns, including short stature, cardiac abnormalities, and infertility. However, the social effects are also important. People with TS often have difficulties with social skills and relationships. These challenges can lead to depression, low self-esteem, anxiety, and not being able to effectively interact with others.
Growing up, I always felt different, like I didn’t fit in anywhere. I never felt good enough. Social interactions were always difficult and sometimes still are. I feel like I never know what to say. As is typical of individuals with TS, I couldn’t always read social cues.
When I attended my first Nebraska Turner Syndrome Support Group (NTSSG) meeting, I was nervous. When I walked in, I quickly felt at home; I felt welcomed and like I belonged there.
Some of the other adult women with TS from NTSSG have become my best friends and confidantes. We chat about everything. I am so blessed by our friendship and the way we support each other. We have been there for each other in very difficult situations, such as one friend’s divorce, two friends moving, and health concerns.
I have been able to attend nine national TS conferences, including one where I ran into someone from Nebraska. I was able to bring her into NTSSG and reunite her with one of my other besties. Getting to know TS butterflies from all over the country has been wonderful. I’ve met other women with TS with whom I have some things in common and others from whom I have learned so much. Conferences have provided so much information about TS, and I have been able to visit places I would not have been able to otherwise. Information from the National Institutes of Health (NIH) studies, for example, has been invaluable.
What I've Learned
My late diagnosis, at age 17, had its benefits and drawbacks. Not knowing about my TS diagnosis helped me learn to persevere through some of the difficult academic issues that can accompany TS. My motto was: Keep trying, and you will get it.
I don’t blame TS for every difficulty I’ve encountered. But I can’t help but wonder how the social aspects of TS might have improved had I become more involved with organizations like TSF, TSSUS, and the local Minnesota support group (when I lived there). I certainly would have had more knowledge and resources about TS and how to deal with it.
Researchers & Funding
In 2019, UK researchers Jean Wolstencroft, a Research Fellow at University College London in England, and David Skuse, a Professorial Research Associate at the University College London’s Great Ormond Street Institute of Child Health, conducted a study to examine the effects of biological and psychological factors on the social skills and relationships of patients with TS. The study was funded by the following organizations:
- Biomedical Research Centre (BRC) infrastructure funding, which supports collaborations between world-leading universities and the UK’s National Health Service (NHS) organizations. This funding brings together academics and clinicians to translate lab-based scientific breakthroughs into potential new treatments, diagnostics, and medical technologies; and
- Child Health Research Charitable Incorporated Organisation (CIO), a London-based charity whose mission is to invest in the advancement of children’s health and their transition from childhood to adulthood.
By creating a broader understanding of the social challenges of patients with TS, Wolstencroft and Skuse’s goal was to bring to light the long-term effects that could impact them throughout their lives. With this new information, medical professionals could provide updated psychological treatments and recommendations to help their patients with TS live more fulfilling lives.
Wolstencroft and Skuse used various self-reporting measures–such as questionnaires, interviews, child behavior checklists, surveys, and a social responsiveness scale–to measure self-competence in TS patients. The study was conducted using different comparison groups–girls of normal stature, girls with normal karyotypes, and age-matched peers. Some of the questions asked were whether the participant had a best friend, if they were able to discriminate between facial expressions, and whether they were involved with a romantic partner in adulthood.
A total of 2,167 individuals (829 children and adolescents and 1,338 adults) participated in the study. Their ages ranged from 3 to 59, thus increasing the usefulness of the study for a broader group of patients.
Wolstencroft and Skuse found that there was a high probability of response biases (participants feeling pressured to report information that was more socially acceptable). They also noted difficulty interpreting the self-reported data. For example, during interviews, patients with TS expressed experiencing more social difficulties than their sisters. However, on the social skills questionnaire, those with TS had similar scores to their sisters. Similarly, patients who participated in the study had a good understanding of appropriate social behaviors. However, they minimized their social difficulties to be more in alignment with other responses.
Other findings showed that women with TS were unable to sustain intimate relationships due to psychological and biological differences. Short stature had a notable negative effect on the participants’ self-image and contributed to the social stigma associated with TS. These challenges could lead to feelings of isolation and not being able to maintain friendships.
Biological challenges such as hearing loss, facial recognition, and emotional intelligence using verbal/nonverbal cues, also greatly contributed towards impaired social skills in patients with TS. Perhaps most importantly, due to infertility struggles, women with TS often feared being rejected if they disclosed the details of their condition.
There are limitations in the psychological treatment plan for patients with TS, which could hinder their social skills overall. Due to the lack of qualitative research analyzing the connection between social skills, psychological changes, and the patient experiences, TS patients sometimes do not receive the support they need. Researchers are not as informed regarding the extent to which adolescent patients with TS are aware of their social differences and whether they regard them as problematic.
Additionally, there is limited research about the sexual orientation and gender identity of patients with TS. In order to better understand these social challenges, Wolstencroft and Skuse suggested that future research take on a broader approach to examining the problem.
To foster an inclusive environment, it is important to be aware of how TS can affect social skills and relationships. Remember to embrace those with differences and engage in social interactions
with acceptance and patience. Bringing more awareness to TS can help medical professionals find new ways to support their patients from a social standpoint. More evidence-based programs could be created to improve patients’ social skills and build a greater sense of community to combat social difficulties.
To contribute to TSF’s mission, check out our website for upcoming educational programs, awareness events, and volunteer opportunities. Reach out to TSF if you would like to host an activity in your local community.
Also, consider joining TSF’s private Star Sisters group. Star Sisters is a way to connect with others in the TS community to share honest experiences and form a sisterhood of support. This group provides an opportunity to raise awareness while being part of a community. All meet-ups and events occur online, so anyone personally affected by TS can participate! Star Sisters offers monthly Zoom gatherings, age-group breakouts, and educational webinars. People with TS, parents, and caregivers are all welcome to join.
Written by Chioma, TSF volunteer blog writer. Edited by Susan Herman, TSF Blog Coordinator, and Kayla Ganger, TSF Professional Member Liaison.
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