Peer-reviewed journal articles are academic publications that have been reviewed and approved by experts in the field. This process helps ensure that the research being published is high-quality and valid. Below are some of the peer-reviewed articles from our team.
Authors: Shanlee Davis, Susan Howell, Jennifer Janusz, Najiba Lahlou, Regina Reynolds, Talia Thompson, Karli Swenson, Rebecca Wilson, Judith Ross, Philip Zeitler, and Nicole Tartaglia
Summary:
This was a double-blind randomized controlled trial of testosterone treatment in infants with 47,XXY (Klinefelter syndrome) during the infant mini puberty phase, focusing on physical, hormonal, and neurodevelopmental outcomes. Three monthly injections of testosterone 25mg resulted in:
Based on these results, we do not recommend every baby with XXY get testosterone shots. However, some boys, such as those with a small penis or low infant testosterone levels (ideally measured ~6 weeks of age) may benefit from treatment. Infants should be evaluated by a pediatric endocrinologist.
Authors: Alexandra Carl, Samantha Bothwell, Fathia Farah, Karli Swenson, David Hong, Siddharth Prakash, John Strang, Nicole Tartaglia, Armin Raznahan, Judith Ross, INSIGHTS Consortium, GALAXY Consortium, Shanlee Davis
Summary:
The goal of this study was to determine the research priorities of patients and families. We surveyed participants in two registries. The INSIGHTS Registry is for individuals with Turner syndrome. The GALAXY Registry is for individuals with other X and Y variations. Intervention studies were a top priority. This shows a need for researchers to focus on clinical treatments. Within health topics, the priorities changed by X and Y variation. The top priorities in each group were:
These results can help researchers decide what to study in the future.
Authors: Adriana Hall, Anna Furniss, Nicole Tartaglia, Jennifer Janusz, Rebecca Wilson, Caitlin Middleton, Sydney Martin, Jacqueline Frazier, Michele Martinez-Chadrom, Jennifer Hansen-Moore, Chijioke Ikomi, Judith Ross, Maria Vogiaski, Leela Morrow, Dimitri Christakis, Rachel E Lean, Natalie Nokoff, Laura Pyle, Shanlee Davis
Summary:
The goal of this paper was to compare how often neurodevelopmental and mental health diagnoses occur in sex chromosome trisomies (47,XXY, 47,XYY, and 47,XXX) compared to individuals without those conditions. We looked at a large dataset from multiple children’s hospitals across the United States. This data showed us that individuals with the trisomies had neurodevelopmental and mental health diagnoses more often than individuals without a trisomy. We also found that individuals with the trisomies were more likely to be on medications like stimulants, SSRIs, and antipsychotics. These results highlight the need for screening and early intervention.
Authors: Joanna Dreyer, Susan Howell, Samantha Bothwell, Kayla Molison, Alexandra Carl, Karli Swenson, Shanlee Davis, Gail Decker; GALAXY consortia; Nicole Tartaglia
Summary:
Individuals with 48,XXYY syndrome can have behavior and mental health challenges. This can include ADHD, anxiety, depression, sleep disorders, irritability, and aggressive behaviors. We used data from a survey and medical records for this study. We found that 70% of the patients had taken a medication for behavior or mental health at some point in their life. Most common were stimulants for ADHD and anti-anxiety or anti-depressants. We found that patients often tried many similar medications before finding one that worked for them. Generally, patients found these medications helpful.
Authors: Susan Howell, Shanlee Davis, Billie Carstens, Mary Hagg, Judith Ross, Nicole Tartaglia
Authors: Natalia Klamut, Samantha Bothwell, Alexandra Carl, Vaneeta Bamba, Wendy Brickman, Karen Klein, Roopa Kanakatti Shankar, Catherina Pinnaro, Patricia Fechner, Siddharth Prakash, Iris Gutmark-Little, Susan Howell, Nicole Tartaglia, Marybel Good, Kelly Ranallo, Shanlee Davis
Summary:
Mosaic Turner syndrome with a trisomy X cell line (47,XXX) is a rare form, affecting about 3-10% ofthose with Turner syndrome. Because it’s so uncommon, there’s not much research on it. This study aimed to compare a 45,X/47,XXX group to other forms of Turner syndrome: non-mosaic and mosaic with a typical female cell line (46,XX). The mosaic with trisomy X group had less participants with the following than the non-mosaic group:
For those over 10 years old, individuals with 45,X/47,XXX were more likely to develop breasts and have periods on their own. They also had a higher chance of being born with kidney and structural heart issues compared to those with the 45,X/46,XX type. These differences highlight why it’s important to consider 45,X/47,XXX differently from other forms of Turner syndrome.
Authors: Alexandra Carl, Marybel Good, Erica Haag, Christa Hutaff-Lee, Deanna Swain, Nicole Tartaglia, Casey Sakamoto, Talia Thompson
Summary:
We heard from the TS community that anxiety impacts quality of life. However, past research showed that the proportion of pediatric TS patients diagnosed with an anxiety disorder was similar to the general population. With the help of a Community Advisory Board, the team developed a survey that asked about anxiety symptoms, triggers, and solutions. A subset of participants then took part in interviews describing their or their child’s experience with anxiety. The top symptoms of anxiety reported by all participants was insomnia. The top triggers reported were ‘anticipation’, ‘uncertainty’, ‘lots happening at once’ and ‘dealing with conflict’. Participants tried a lot of strategies to help reduce anxiety. Helpful strategies included taking daily anxiety medications, taking a ‘mental health day’, and ongoing therapy.
Authors: Shanlee Davis, Craig Teerlink, Julie Lynch, Bryan Gorman, Meghana Pagadala, Aoxing Liu, Matthew Panizzon, Victoria Merritt, Giulio Genovese, Judith Ross, Richard Hauger
Authors: Shanlee Davis, Craig Teerlink, Julie Lynch, Natalia Klamut, Bryan Gorman, Meghana Pagadala, Matthew Panizzon, Victoria Merritt, Giulio Genovese, Judith Ross, Richard Hauger
Authors: Sarah Huang, Vaneeta Bamba, Samantha Bothwell, Patricia Fechner, Anna Furniss, Chijioke Ikomi, Leena Nahata, Natalie Nokoff, Laura Pyle, Helina Seyoum, Shanlee Davis
Authors: Roopa Kanakatti Shankar, Alexandra Carl, Jennifer R Law, Vaneeta Bamba, Wendy J Brickman, Siddharth K Prakash, Tazim Dowlut-McElroy, Susan Howell, Iris Gutmark-Little, Karen O Klein, Catherina T Pinnaro, Kelly Ranallo, Marybel Good, Shanlee Davis
Summary:
The InsighTS registry was created in 2020, with help from the Turner Syndrome Global Alliance. InsighTS allows researchers to look at clinical data of individuals with TS, to hopefully improve clinical treatment and care. It also provides an avenue for the TS community to participate in research and propose research topics. InsighTS is a collaborative effort, with involvement across clinicians, researchers, self-advocates with TS and their families. We are continuing to enroll participants, improving the registry by collecting new data and getting a large variety of participants from all backgrounds. Participants can enroll while in their local clinics or online. By establishing InsighTS, we prioritize patient-centered research and transparency of research results, while also serving as a role-model for future rare disease registries.
Authors: Tiffany Pham, Shanlee Davis, Suhong Tong, Khaled A Campa, Norman R Friedman, Sarah A Gitomer
Authors: Talia Thompson, Jessica Tisher, Shanlee Davis, Christina Miller, Jillian Kirk, Nicole Tartaglia, Susan Howell
Summary:
This was a qualitative study aimed to describe the lived experience of parents of young daughters with prenatally identified trisomy X. Participants completed interviews and then the research team reviewed each interview to see what was similar across them. Based on those similarities, four themes were found: Negative Diagnostic Experience, Hopeful Early Childhood, Persistent Ambiguity, and Coping with and Adapting to Uncertainty. Results suggest providers should carefully consider word choice and timing in delivery of diagnosis. Genetic counseling should provide expectant parents with current research specific to trisomy X and introduce developmental monitoring approaches. Additionally, they should be prepared to support families with a range of emotional responses. Genetic counselors can also help connect families with a daughter with trisomy X.
Authors: Shanlee Davis, Rhianna Urban, Angelo D'Alessandro, Julie A Reisz, Christine L Chan, Megan Kelsey, Susan Howell, Nicole Tartaglia, Philip Zeitler, Peter Baker
Authors: Virginia Miller, Christina Miller, Shanlee Davis, Natalie Nokoff, Cindy Buchanan, Elizabeth Friedrich, Alexandra Carl, Sophia Strine, Maria Vogiatzi
Authors: Susan Howell, Shanlee Davis, Talia Thompson, Mariah Brown, Tanea Tanda, Karen Kowal, Amanda Alston, Judith Ross, Nicole Tartaglia
Authors: Jessica Kremen, Shanlee Davis, Leena Nahata, Hillary Kapa, Taylor Dattilo, Christa Hutaff-Lee, Amy Tishelman, Canice Crerand
Authors: Nienke Bouw, Hanna Swaab, Nicole Tartaglia, Lisa Cordeiro, Sophie van Rijn
Authors: Ishani Singh, Gillian Noel, Jennifer Barker, Kathryn Chatfield, Anna Furniss, Amber Khanna, Natalie Nokoff, Sonali Patel, Laura Pyle, Leena Nahata, F Sessions Cole, Chijioke Ikomi, Vaneeta Bamba, Patricia Fechner, Shanlee Davis
Authors: Talia Thompson, Shanlee Davis, Jennifer Janusz, Erin Frith, Laura Pyle, Susan Howell, Richard Boada, Rebecca Wilson, Nicole Tartaglia
Authors: Talia Thompson, Nicole Stinnettt, Nicole Tartaglia, Shanlee Davis, Jennifer Janusz
Authors: Talia Thompson, Shanlee Davis, Stephanie Takamatsu, Susan Howell, Nicole Tartaglia
Authors: Stephanie Cung, Laura Pyle, Kristin Nadeau, Dana Dabelea, Melanie Cree-Green, Shanlee Davis
Authors: Nienke Bouw, Hanna Swaab, Nicole Tartaglia, Lisa Cordeiro, Sophie van Rijn
Authors: Kimberly C. Kuiper, Hanna Swaab, Nicole Tartaglia, Lisa Cordeiro, Sophie van Rijn
Authors: Nienke Bouw, Hanna Swaab, Nicole Tartaglia, Anna Jansen, Sophie van Rijn
Authors: Susan Howell, Catherine Buchanan, Shanlee Davis, Heather Miyazawa, Glenn Furuta, Nicole Tartaglia, Nathalie Nguyen
Authors: Nienke Bouw, Hanna Swaab, Nicole Tartaglia, Sophie van Rijn
Authors: Evelien Urbanus, Hanna Swaab, Nicole Tartaglia, Richard Boada, Sophie van Rijn
Authors: Lindsey Guzewicz, Susan Howell, Canice Crerand, H Umbaugh, Natalie Nokoff, Jennifer Barker, Shanlee Davis
Authors: Nisha Patel, Shanlee Davis, Leena Nahata
Authors: Shanlee Davis, Canice Crerand, Christa Hutaff-Lee, Talia Thompson, Amy Tishelman, Omar Samara, Hailey Umbaugh, Leena Nahata, Jessica Kremen
Authors: Shanlee Davis, Katelyn Soares, Susan Howell, Melanie Cree-Green, Eliza Buyers, Joshua Johnson, Nicole Tartaglia
Authors: Nicole Tartaglia, Susan Howell, Shanlee Davis, Karen Kowal, Tanea Tanda, Mariah Brown, Cristina Boada, Amanda Alston, Leah Crawford, Talia Thomspon, Sophie van Rijn, Rebecca Wilson, Jennifer Janusz, Judith Ross
Authors: Shanlee Davis, Sophia DeKlotz, Kristin Nadeau, Megan Kelsey, Philip Zeitler, Nicole Tartaglia
Authors: Talia Thompson, Briana Zieba, Susan Howell, William Karakash, Shanlee Davis
Authors: Talia Thompson, Susan Howell, Shanlee Davis, Rebecca Wilson, Jennifer Janusz, Richard Boada, Laura Pyle, Nicole Tartaglia
Authors: Shanlee Davis, Luke Bloy, Timothy Roberts, Karen Kowal, Amanda Alston, Aysha Tahsin, Alyssa Truxon, Judith L Ross
Authors: Kristen Wigby, Lisa Cordeiro, Rebecca Wilson, Kathleen Angkustsiri, Tony J Simon, Nicole Tartaglia
Authors: Jennifer Janusz, Caroline Harrison, Cristina Boada, Lisa Cordeiro, Susan Howell, Nicole Tartaglia, Richard Boada
Authors: Evelien Urbanus, Hanna Swaab, Nicole Tartaglia, Lisa Cordeiro, Sophie van Rijn