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Date

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Session Description

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Saturday June 192:00 PM3:00 PMWelcome Session for First Time Conference Attendees and Newly DiagnosedIf this is your first AXYS conference or if you or your family member was diagnosed recently come to this session to get a preview of the conference and get to know a couple of our speakers. We're happy to answer your questions so you have an amazing conference experience.Erin Frith, MEd , Carol Meerschaert, Erin TorresErin Frith
Carol Meerschaert
Erin Torres
All
Monday June 213:00 PM3:30 PMOpening CelebrationJoin this session to meet the board and celebrate our first virtual conference.All AXYS board members & Carol MeerschaertCarol MeerschaertAll
Monday June 213:30 PM5:00 PMXXY Welcome Open House Drop in SessionDrop in to meet individuals with XXY and their families. Matt McKeon, Stefan SchwarzMatt McKeon
Stefan Schwarz
About 47,XXYXXY
Monday June 213:30 PM5:00 PMXYY Welcome Open House Drop in SessionDrop in to meet individuals with XYY and their families.Judi Cyr, Silvia Mann, Heidi WallackSilvia Mann
Heidi Wallack
About 47,XYYXYY
Monday June 213:30 PM5:00 PMTrisomy X Welcome Open House Drop in SessionDrop in to meet individuals with Trisomy X and their families.Hannah Acevedo-Schiesel MS, LEP, ABSNP, BCBA, Jessica Burke, Joanne Burke, Carrie Curtis, Erin Frith, MEd, Andrea MillettHannah Acevedo-Schiesel
Erin Frith
Andrea Millett
About Trisomy X |
YouTube video: An overview of Trisomy X
Trisomy X
Monday June 213:30 PM5:00 PMXXYY Welcome Open House Drop in SessionDrop in to say hi to the leaders of the XXYY Project.Gail Decker, John SlossGail DeckerAbout 48,XXYYXXYY
Monday June 213:30 PM5:00 PMXXXY and others Welcome Open House Drop in SessionJoin this session if your family member has XXXY or other 48 or 49 X/Y chromosome variations.Jennifer Chapdelaine, Charissa Moll, Nancy PereschukJennifer ChapdelaineAbout 48,XXXY and other variationsXXXY
Monday June 215:00 PM6:30 PMNew England Welcome SessionWe warmly invite those who live in CT, MA, ME, NH and VT to meet the support group leaders from this area and others who live near you.Andrea Millett, Bill MulkernAndrea MillettAXYS Support GroupsAll
Monday June 215:00 PM6:30 PMNY Tri State and Upstate NY Welcome SessionWe warmly invite those who live in NY state or the NYC Tri-State area to meet the support group leaders from this area and others who live near you.Carrie Riby, Avrin SlatkinCarrie RibyAXYS Support GroupsAll
Monday June 215:00 PM6:30 PMMid Atlantic (PA, NJ, DE, MD, DC, VA, WV) Welcome SessionWe warmly invite those who live in PA, NJ, MD, VA and DC to meet the support group leaders from this area and others who live near you.Erin Frith, MEd, Matt McKeon, Stefan Schwarz, Erin TorresErin Frith
Matt McKeon
Stefan Schwarz
Erin Torres
AXYS Support GroupsAll
Monday June 215:00 PM6:30 PMBienvenidos Hispano-hablantesInvitamos cordialmente a aquellos que hablan español a pasar por esta sesión de chat.Hannah Acevedo-Schiesel MS, LEP, ABSNP, BCBA, Silvia Mann, Lorena QuirogaHannah Acevedo-Schiesel
Silvia Mann
AXYS Support GroupsAll
Monday June 215:00 PM6:30 PMSoutheastern (GA, FL, AL, MS, TN) US Welcome SessionWe warmly invite those who live in GA, FL, AL, MS, and TN to meet the support group leaders from this area and others who live near you.Dorothy Boothe, Tina HanifDorothy BootheAXYS Support GroupsAll
Monday June 216:00 PM7:30 PMMidwest Welcome SessionWe warmly invite those who live in KS, MO, NE, IA and other Mid-Western states to meet the support group leaders from this area and others who live near you.Rebecca Kaus, Kerry SloyanRebecca KausAXYS Support GroupsAll
Monday June 217:00 PM8:30 PMRocky Mountain Welcome SessionWe warmly invite those who live in CO, UT, NM, WY, and western NE to meet the support group leaders from this area and others who live near you.Susan Atwell, Heidi WallackHeidi WallackAXYS Support GroupsAll
Monday June 218:00 PM9:30 PMWest Coast Welcome SessionWe warmly invite those who live in CA, OR and WA to meet the support group leaders from this area and others who live near you.Hannah Acevedo-Schiesel MS, LEP, ABSNP, BCBA, Vanessa Alschuler, Lauren Mathews, Lorena Quiroga, Katie RenatiHannah Acevedo-Schiesel
Vanessa Alschuler
Lauren Mathews
AXYS Support GroupsAll
Tuesday June 222:30 PM2:45 PMFirst Time Attendee Check-in SessionStop by and say hello if this is your first conference or if you are new to AXYS. We're here to answer your questions and make you feel welcome. Erin Frith, MEd, Stefan Schwarz, Erin TorresErin Frith Stefan Schwarz
Erin Torres
All
Tuesday June 223:00 PM3:50 PMWhat is Testosterone? What is TRT?If you have heard a lot about “testosterone” but do not really know what it is or why it is such a big deal, this session is for you. We will discuss the systemic role of testosterone in the body, testosterone throughout the lifespan, and measurement of testosterone and other related hormones. This is the background you need to partner with your endocrinologist.

Shanlee Davis, MD, PhD, Assistant Professor of Pediatrics, University of ColoradoDr. Shanlee DavisXXY, XXYY, XXXY
Tuesday June 224:00 PM4:50 PMCan We Talk? Disclosing the diagnosis to siblings, relatives. A talk for parents of young children.How do you tell your relatives? When do you tell them or do you tell them at all? An open discussion on this important topic.Dr. Lilian CohenDr. Lilian CohenYouTube video: Disclosing the Diagnosis in X and Y VariationsAll
Tuesday June 225:00 PM5:50 PMConversation Skills for Adults: Lessons from the PEERS ProgramSocial skills challenges are common among individuals with various genetic, neurodevelopmental, and mental health conditions. Although these individuals may struggle with friendships and relationships, many indicate a desire for learning how to develop and maintain meaningful relationships with others. This presentation will discuss the UCLA PEERS Program, an evidence-based social skills intervention for youth and young adults with social skills difficulties, with a specific focus on concrete rules and steps for conversation skills.

Jasper A. Estabillo, PhD, Clinical Instructor & Postdoctoral Fellow, UCLA PEERS ClinicDr. Jasper EstabilloPresentation SlidesAll
Tuesday June 226:00 PM6:50 PMEarly Intervention for Young Children with X&Y VariationsRecent advances in noninvasive prenatal testing have resulted in an increased number of infants with confirmed diagnoses of X&Y variations. Consequently, early childhood support systems must prepare for an influx of children with known risks for associated developmental delays and potential future school problems. In a recent national survey, parents of children with X&Y variations described early intervention (EI) services as desirable and effective yet also difficult to obtain due to a lack of provider knowledge and challenges navigating the intervention systems. This presentation will provide an introduction to EI services in the U.S., current data on how young children with X&Y variations are served through EI, and tips for how families can access EI services for their young children.Talia Thompson, PhD, Assistant Professor, University of ColoradoDr. Talia ThompsonAXYS Consensus Document: Educational Guidelines, IEPs, and School ServicesAll
Tuesday June 227:30 PM8:00 PMCan We Talk? Chat with Erin and Jonathan from the NIH Study about upcoming research opportunitiesJonathan Blumenthal, Erin TorresJonathan Blumenthal
Erin Torres
YouTube video: Dr. Raznahan on NIMH research on X&Y chromosome variationsAll
Tuesday June 228:00 PM8:50 PMPatterns of Mental Health Risk in X/Y VariationsThis talk will summarize findings from new research that examined patterns of mental health difficulties in children, adolescents, and adults with XXY, XYY, XXX, and XXYY. Recommendations for clinical practice based on the results from this research will be discussed briefly. The talk is intended for caregivers/ parents of youth and adults with X/Y variations, as well as clinicians that work with these families.Srishti Rau, PhD, Pediatric Neuro-psychologist, Children's National and NIMHDr. Srishti RauAll
Tuesday June 229:15 PM9:30 PMMeditationDan Globus, the Director and lead Meditation teacher of Meditation House, will be leading two Mindfulness Meditation sessions at the AXYS 2021 Virtual Family Conference. Meditation House specializes in teaching corporate mindfulness programs. Dan’s meditations draw inspiration from his Tibetan Buddhist training and his life experiences. He teaches a secular style of Meditation that is appealing to all people no matter their religion, race, or country of origin. Beginners and experienced meditators alike will find this class calming, insightful, and inspiring.Dan GlobusDan GlobusMeditation House websiteAll
Wednesday June 232:30 PM2:45 PMFirst Time Attendee Check-in SessionStop by and say hello if this is your first conference or if you are new to AXYS. We're here to answer your questions and make you feel welcome.Erin Frith, MEd, Carol Meerschaert, Stefan SchwarzErin Frith
Carol Meerschaert
Stefan Schwarz
All
Wednesday June 233:00 PM3:50 PMWhole Genome Sequencing and Genetic Counseling for X & Y Variations: Research Opportunities at the NIHThis presentation will describe a genetic sequencing research study at the NIH. We will discuss the scientific reasoning for the study, relevant genetic technologies, and genetic counseling related to X&Y variations. This presentation is aimed toward parents, adults, and adolescents - anyone who is interested in learning more!Michael Setzer, ScM, CGC, Genetic Counselor, National Institutes of HealthMichael SetzerYouTube video: How Research Benefits Families and PatientsAll
Wednesday June 234:00 PM4:50 PMCan We Talk? Confabulation: When your child does not tell the truthLearn from seasoned parents who will share experiences and strategies. Panel of Parents: Liz Claus, Judi Cyr, Gail Decker, Heidi WallackGail Decker
Heidi Wallack
All
Wednesday June 235:00 PM5:50 PMCan We Talk? Chat about the K-12 School ExperienceErin Frith, MEd,
Educator, Talia Thompson, PhD, Assistant Professor, University of Colorado
Erin Frith
Dr. Talia Thompson
AXYS Consensus Document: Educational Guidelines, IEPs, and School ServicesAll
Wednesday June 236:00 PM6:50 PMLego BuildGrab your legos and have some family funKen BenjesAll
Wednesday June 237:00 PM7:50 PMBlack Affinity GroupA time for all who identify as Black to gather and chat.Dalene Basden, Erin TorresDalene Basden
Erin Torres
All
Wednesday June 238:00 PM8:50 PMTools for Teaching Social Boundaries to Tweens, Teens, and Young AdultsSome behaviors can become problematic for individuals who struggle to understand and maintain social boundaries, particularly as they reach adolescence and young adulthood.
This workshop will help caregivers, parents, teachers, and therapists learn strategies for helping make unwritten social rules more clear and concrete.

Hannah Acevedo-Schiesel MS, LEP, ABSNP, BCBA, Educational Psychologist/ Diplomate in School Neuro-psychology/ Board Certified Behavior Analyst, Pathways to LearningHannah Acevedo-SchieselPresentation SlidesAll
Thursday June 242:30 PM2:45 PMFirst Time Attendee Check-in SessionStop by and say hello if this is your first conference or if you are new to AXYS. We're here to answer your questions and make you feel welcome. Erin Frith, MEd, Carol Meerschaert, Stefan Schwarz, Erin TorresErin Frith
Carol Meerschaert
Stefan Schwarz
Erin Torres
All
Thursday June 243:00 PM3:50 PM"It gets worse and then it gets better:" Individuals’ Experiences Receiving and Adapting to a Sex Chromosome Aneuploidy DiagnosisIn this presentation, we will give an overview of the experiences of adolescents and adults who received a postnatal diagnosis of a sex chromosome aneuploidy. Using data from interviews and surveys, we will describe individuals’ experiences receiving and adapting to their diagnosis over time. We will also discuss the role of self-advocacy and suggestions individuals provided for how the diagnosis disclosure process can be improved. This presentation may be interesting to a variety of audiences including people with an X/Y variation, their family members, and allies hoping to better understand their experiences.Nivi Ahlawat, BS, Masters Student in Human Genetics and Genetic Counseling, Stanford School of Medicine

Jordan P. Richardson, BS, Post-Baccalaureate Research Trainee, Biomedical Ethics Research Program, Mayo Clinic
Nivi Ahlawat
Jordan P. Richardson
YouTube video: Parental Advocacy for Children with Sex Chromosome AneuploidiesAll
Thursday June 244:00 PM4:50 PMRecommendations to Providers to Improve the Parent Experience of Receiving an X/Y Variation DiagnosisWe are interested in publishing concrete advise to medical providers on how to best deliver a diagnosis of an X/Y Variation. We will present feedback from the hundreds of parents who have participated in our research thus far and ask for feedback from you on whether they reflect your experiences and anything else you would like medical providers to know.Kirsten A. Riggan, MA, MS, Research Coordinator, Mayo ClinicKirsten A. RigganHow to Best Deliver a Diagnosis of an X/Y Variation to ParentsAll
Thursday June 245:00 PM5:50 PMEmotional RegulationThis presentation will help caregivers /parents of adolescents with Klinefelter's syndrome understand emotional regulation. Participants will learn about the typical emotional responses in adolescents and how having Klinefelter's syndrome plays a unique role. Strategies for parental coping will be provided and discussed.Leela Morrow, PsyD, Pediatric Psychologist, Children's Hospital of PhiladelphiaDr. Leela MorrowPresentation Slides | YouTube video: Keeping your cool around emotional behaviorsAll
Thursday June 246:00 PM6:50 PMTransition from pediatric to adult-oriented medical careTransition from pediatric to adult-oriented care is important for health and wellbeing. However, adolescents and young adults have unique needs and the transition process can be full of challenges. This talk will describe key steps in transition for adolescents/ young adults, parents/caregivers and healthcare professionals. We will review resources, tools and models of care to help patients navigate the passage to adult-oriented care. At the end of this presentation, participants will be able to: 1) appreciate the importance of transition; 2) recognize available resources; and 3) begin discussions with healthcare providers to plan a smooth transition.Andrew Dwyer, PhD, FNP-BC, FNAP, FAAN
Assistant Professor
Boston College - MGH-Harvard Center for Reproductive Medicine
Dr. Andrew DwyerPediatric vs. Adult Care | A Family Toolkit: Pediatric to Adult Health Care TransitionAll
Thursday June 247:00 PM7:50 PMScavenger HuntA fun activity for all ages.Andrea MillettAndrea MillettAll
Thursday June 248:00 PM8:50 PMSelf-care and ResiliencyPeople that care for others often have limited knowledge of the impact of compassion fatigue and lack skills needed to foster self-care practices for themselves. This presentation is designed to explore the concept of compassion fatigue and equip individuals with the knowledge and skill needed to identify caring and compassion fatigue, and create prevention and intervention plans to promote self-care and resiliency.

Topics will include:
  • What is compassion fatigue (CF)?

  • What are the causes of CF?

  • How do you create a plan for self-care that builds resiliency?

Donna M. White RN, PhD, CNS, LADC I, Addiction SpecialistDonna M. White RN, PhDAll
Thursday June 249:15 PM9:30 PMMeditationDan Globus, the Director and lead Meditation teacher of Meditation House, will be leading two Mindfulness Meditation sessions at the AXYS 2021 Virtual Family Conference. Meditation House specializes in teaching corporate mindfulness programs. Dan’s meditations draw inspiration from his Tibetan Buddhist training and his life experiences. He teaches a secular style of Meditation that is appealing to all people no matter their religion, race, or country of origin. Beginners and experienced meditators alike will find this class calming, insightful, and inspiring.Dan GlobusDan GlobusMeditation House websiteAll
Friday June 252:30 PM2:45 PMFirst Time Attendee Check-in SessionStop by and say hello if this is your first conference or if you are new to AXYS. We're here to answer your questions and make you feel welcome. Erin Frith, MEd, Carol Meerschaert, Stefan Schwarz, Erin TorresErin Frith
Carol Meerschaert
Stefan Schwarz
Erin Torres
All
Friday June 253:00 PM3:50 PMHeart Health in People with Klinefelter SyndromeWe will present concerns related to heart health that can be seen in some people with Klinefelter syndrome. We will also discuss ways to prevent, screen for, and treat any heart-related problems that may occur. This talk is intended for patients and their family members.Frances High, MD, PhD, Medical Geneticist, Massachusetts General HospitalDr. Frances HighYouTube video: Metabolic SyndromeXXY
Friday June 254:00 PM4:50 PMThe Relationship of Physical Function and Psychosocial Health on Quality of Life in Individuals with 48,XXYYIndividuals with 48,XXYY experience physical, psychosocial, and neurocognitive symptoms affecting their health. This study utilized a cross-sectional, descriptive mixed methods design to explore health and quality of life of men with 48,XXYY. Participants completed demographic, depression, anxiety, and quality of life symptom surveys. A subset of participants was purposively chosen to then complete interviews that explored health, quality of life, and healthcare needs. Twenty-two participants completed surveys, and 10 participants completed interviews. While participants reported high levels of depression and anxiety, they generally reported good quality of life. Psychosocial health concerns were most impactful on quality of life. Triangulation of data explained how depressive or anxious symptoms were often related to social contexts, such as difficulty with intimate relationships, negative social interactions, and lack of independ-ence. This presentation is intended for teens and adults with 48,XXYY and parents/ caregivers of teens and adults with 48,XXYY.Amy A. Blumling, PhD, CPNP-PC, Clinical Instructor
Nell Hodgson Woodruff School of Nursing, Emory University
Dr. Amy BlumlingXXYY
Friday June 255:00 PM5:50 PMFertility in Klinefelter SyndromeAlthough fertility has been previously thought to be impossible for men born with Klinefelter syndrome, substantial new technology, including surgical techniques have been developed to successfully treat the majority of men with KS. This talk will overview the development of this technique, background information on why some centers are more successful for treatment, as well as key elements to understand for men who require testosterone treatment for management of KS during development. The newest concepts on timing of treatment will also be overviewed based on the authors perspectives and experience with treating over 500 men with KS for fertility preservation and treatment.Peter Schlegel, MD, Professor of Urology, Weill Cornell MedicineDr. Peter SchlegelAXYS Consensus Document: Fertility Guidelines for KSXXY
Friday June 256:00 PM6:50 PMCan We Talk? Many ways to make a family: Donor conception, adoption and moreHooman Sadri-Ardekani, MD, PhD and Stuart S. Howards, MD
Wake Forest Baptist Medical Center, Department of Urology and Center for Reproductive Medicine

Ryan Flannigan, MD, FRCSC
Flannigan Fertility – Reproductive Medicine
Vancouver, British Columbia
Dr. Ryan Flannigan
Dr. Stuart Howards
Dr. Hooman Sadri
AXYS Consensus Document: Fertility Guidelines for KSAll
Friday June 256:00 PM6:50 PMFertility and Ovary Function in Trisomy XGirls and women with trisomy X sometimes have ovaries that stop working too early – called premature ovarian failure (POF). In this session, we will go over the normal function of the ovaries and what we know about ovary function in 47,XXX. We will provide our recommendations for monitoring ovarian function in trisomy X, as well as an overview of treatment for POF.Shanlee Davis, MD, PhD, Assistant Professor of Pediatrics, University of ColoradoDr. Shanlee DavisArticle: Diminished Ovarian Reserve in Girls and Adolescents with TXS |
YouTube video: Risk for Early Ovarian Failure in Girls with Trisomy X Syndrome
Trisomy X
Friday June 257:00 PM7:30 PMPerformanceMichael PalumboAll
Saturday June 268:00 AM8:50 AMCan We Talk? Coffee with the AXYS Board ChairErin Frith, MEdErin FrithAll
Saturday June 269:15 AM9:45 AMIntroduction to the new Clinical Registry, GALAXY (Generating Advancements through Longitudinal Analysis in X and Y syndromes)This presentation will introduce and describe the new clinical registry, GALAXY (Generating Advancements through Longitudinal Analysis in X and Y syndromes). This AXYS funded registry aims to advance clinical research by collaborating in the collection of research data among national AXYS Clinic and Research Consortium (ACRC) members, utilizing standardized metrics, scientific approaches, and professional working groups to expedite progress in basic science, clinical management, and future treatments for X&Y syndromes.Shanlee Davis, MD, PhD, Assistant Professor of Pediatrics, University of Colorado

Susan Howell, MS, CGC, MBA, Genetic Counselor, University of Colorado
Dr. Shanlee Davis
Susan Howell
Presentation Slides | Design the GALAXY Registry Logo Contest |
How Research Benefits Families and Patients
All
Saturday June 2610:00 AM10:50 AMTestosterone treatment in Klinefelter syndromeKlinefelter Syndrome (KS) is associated with hypergonadotropic hypogonadism and treatment with testosterone replacement therapy (TRT) is commonly indicated. There are no international guideline for the most appropriate TRT in KS. We conducted a retrospective study covering 5 years from 2015-2020. Data on TRT, biochemical parameters, bone mineral density (BMD), medications, comorbidity and karyotyping were extrated. We examined the effect of transdermal and injection TRT in 147 KS males. Testosterone levels were similar in the two TRT groups (p=0.9), while LH and FSH levels were higher in the group receiving transdermal TRT. Levels of all other parameters were similar. TRT, irrespective of route of administration, affects androgen responsive variables similarly in males with KS. Implementation of shared decision-making with patients may be important when choosing TRT.Claus H. Gravholt, MD, PhD, Professor, Aarhus University HospitalDr. Claus GravholtArticle: Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and EndocrinologyXXY
Saturday June 2611:00 AM11:50 AMCan We Talk? Starting TRT. A session for 'tweens to teens and their caregiversDr. Alan Rogol and Dr. Maria VogiatziDr. Alan Rogol
Dr. Maria Vogiatzi
Presentation SlidesXXY, XXYY, XXXY
Saturday June 2611:00 AM11:50 AMCan We Talk? TRT: A peer session on the practical considerations from those who are on TRTStefan Schwarz, TBAStefan SchwarzXXY, XXYY, XXXY
Saturday June 2611:00 AM11:50 AMCan We Talk? TRT and fertilityHooman Sadri-Ardekani, MD, PhD
Wake Forest Baptist Medical Center, Department of Urology and Center for Reproductive Medicine
Dr. Hooman SadriAXYS Consensus Document: Fertility Guidelines for KS | YouTube video: Fertility in X&Y Chromosome VariationsXXY, XXYY, XXXY
Saturday June 2612:00 PM1:00 PMChildren's activity: Art

Session Cancelled

All
Saturday June 2612:00 PM1:30 PMResearch for Infants and Young Children: TRIXY Study, eXtraordinarY Babies, Infant Testosterone studiesTRIXY Study: TRIXY Center of Expertise at Leiden University. The studies describe results from a large project on neurobehavioral and neuropsychological risks in young children with XXX, XXY and XYY, aged 1 to 6 years.

The eXtraordinarY Babies Study: Progress to Date: The eXtraordinarY Babies Study is an NIH-funded study of infants prenatally diagnosed with sex chromosome variations (XXY, XYY, Trisomy X, XXYY). This presentation will provide an overview of the study, and report progress to date from over 220 infants who are now 1-4 years of age. We will discuss medical features, developmental profiles, and other study findings. The presentation will target parents, providers, researchers, and anyone else interested in learning about our eXtraordinarY Babies

TESTO Study: With the increase in prenatal testing, knowledge of the mini-puberty period of infancy in boys, and some preliminary reports of benefits from early testosterone, there is an urgent need to determine if a short course of testosterone is safe and helpful for infants with 47,XXY. The Testosterone Effects on Short Term Outcomes (TESTO) in Infants with XXY study is a clinical trial paid for by the NIH to answer some of those important questions. Join us to hear about progress and updates from the study team.
TRIXY Study: Nienke Bouw, MSc, Researcher, Leiden University, Kimberly Kuiper, MSc, Project Researcher, Leiden University, Evelien Urbanus, MSc, Researcher, Leiden University

The eXtraordinarY Babies Study: Progress to Date: Nicole Tartaglia, MD, MS, Developmental-Behavioral Pediatrician, University of Colorado, Children's Hospital Colorado

TESTO Study: Shanlee Davis, MD, PhD, Assistant, Professor of Pediatrics, University of Colorado
Nienke Bouw
Kimberly Kuiper
Evelien Urbanus
Dr. Nicole Tartaglia
Dr. Shanlee Davis
How Research Benefits Families and PatientsAll
Saturday June 261:30 PM1:50 PMTranslating Research Findings into Helpful Information for Parents and CaretakersThis session will target parents of infants and children with X&Y chromosome variations to further discuss the research findings from the infant studies above (TRIXY, TESTO, eXtraordinarY Babies Study). We will discuss the research findings and how they can help inform care, counseling and treatment recommendations for patients and families.Nicole Tartaglia, MD, MS, Developmental-Behavioral Pediatrician, University of Colorado, Children's Hospital ColoradoDr. Nicole Tartaglia
Saturday June 262:00 PM2:50 PMSpecial Education 101Tom Davis, Esq., Associate Attorney, Raffaele & Associates, LLC, & Ahmer Sheriff, JD, Attorney, Roetzel & Andress
Tom Davis, Esq.
Ahmer Sheriff, JD
All
Saturday June 263:00 PM3:50 PMCan We Talk? Disclosing your diagnosis at workShould you tell your boss or your colleagues about your X or Y variation? Adults with X and Y variations will lead this discussion.Matt McKeon, Andrea Millett, Stefan SchwarzMatt McKeon
Andrea Millett
Stefan Schwarz
YouTube video: Disclosing the Diagnosis in X and Y VariationsAll
Saturday June 263:00 PM3:50 PMCan We Talk? Chat time for aunts, uncles, cousins, friends, grandparents, and all who care for those with an X or Y variation.A safe space to get questions answered and get together with those who love someone with an X or Y variation but are not the primary caregivers. Welcome aunts, uncles, cousins, friends, grandparents.Carol MeerschaertCarol MeerschaertAll
Saturday June 264:00 PM4:30 PMExecutive functioning in adolescents with XXY: Results from the BGAP StudyWe will present cross-sectional differences in executive functioning between adolescents with Klinefelter syndrome (KS, 47 XXY) and typically developing (TD) boys without KS. In-depth measures of executive functioning were evaluated using the Delis-Kaplan Executive Function System (DKEFS) and the Behavior Rating Inventory of Executive Function, 2nd Edition (BRIEF-2).Vanessa Alschuler, BA,
Senior Clinical Research Coordinator,
Stanford School of Medicine
Vanessa AlschulerBGAP Study Flyer
BGAP Study: Brains, Genes, and Puberty
XXY
Saturday June 264:30 PM4:50 PMCan We Talk? Chat with Erin and Jonathan from the NIH Study about the upcoming Trisomy X research studyJonathan Blumenthal, Erin TorresJonathan Blumenthal
Erin Torres
Trisomy X
Saturday June 265:00 PM5:50 PMPrenatal testing for X&Y Variations: What are the tests and what do they mean?With the development of cell-free DNA testing, we now have the ability to screen for variations in the X and Y chromosome prenatally in a non-invasive manner. This talk will review what these conditions are, how to test for them and any next steps to expect going forward.Rama Kastury, DO, Assistant Professor, Yale UniversityDr. Rama KasturyYouTube video: Prenatal testing for X&Y VariationsAll
Saturday June 266:00 PM6:50 PMCan We Talk? TRT: for West CoastRyan Flannigan, MD, FRCSC
Flannigan Fertility – Reproductive Medicine
Vancouver, British Columbia
Dr. Ryan FlanniganXXY, XXYY, XXXY
Saturday June 267:00 PM7:50 PMCan We Talk? Parents of ToddlersErin Frith, MEdErin FrithAll
Saturday June 268:00 PM9:00 PMFireside chat: A chance to chat with AXYS board members and process all we've learned so far.Erin Frith, MEdErin FrithAll
Sunday June 279:00 AM9:15 AMFirst Time Attendee Check-in SessionStop by and say hello if this is your first conference or if you are new to AXYS. We're here to answer your questions and make you feel welcome.Erin Frith, MEd, Carol Meerschaert, Stefan Schwarz, Erin TorresErin Frith
Carol Meerschaert
Stefan Schwarz
Erin Torres
All
Sunday June 2710:00 AM10:50 AMCan We Talk? My sibling has an extra X or Y (or more than one)TBAAll
Sunday June 2711:00 AM11:50 AMCan We Talk? XYY in the Teen YearsErin TorresErin TorresXYY
Sunday June 2712:00 PM12:50 PMLatest findings and future plans from the NIMH study of X- and Y-chromosome variationsThis talk will update the AXYS community on latest findings from the NIMH study of X&Y chromosome variations. I will pay special attention to our work on mental health outcomes, and how these relate to individual and family wellbeing. The information presented will be relevant for all X/Y variation groups. I will also share news on upcoming studies from our group - including both online research and in-person studies at the NIH Clinical Center in Bethesda, MD.Armin Raznahan, MD, PhD, Chief, Section on Developmental Neurogenomics, NIMH, National Institutes of HealthDr. Armin RaznahanAll
Sunday June 271:00 PM1:50 PMCoping with Anxiety DisorderThis session will focus on one of the most common behavioral conditions in children -- anxiety. Attendees will learn what the various manifestations of anxiety may look like across young children to adolescents. Various therapies and medications will also be reviewed. Topics will be specifically discussed through the lens of X&Y variation.David Hong, MD
Assistant Professor of Psychiatry and Behavioral Sciences, Stanford University School of Medicine
Dr. David HongAll
Sunday June 272:00 PM2:50 PMLGBTQ+ Affinity GroupWe invite all who identify as LGBTQ+ to join us.Erin Frith, MEdErin FrithAll
Sunday June 272:00 PM2:50 PMBlack Affinity GroupA time for all who identify as Black to gather and chat.Dalene Basden, Erin TorresDalene Basden
Erin Torres
All
Sunday June 273:00 PM3:50 PMReprise: Adults with XXYZell Lundberg XXY/BFA, Dave Wright, MTSDave Wright
Zell Lundberg
YouTube video from 2009 conference: Adults' Perspective on 47,XXYXXY
Sunday June 273:00 PM3:50 PMAdults with Trisomy XSarah is High School student who did a study on Trisomy X and will share her findings.Sarah Lebish, Andrea MillettAndrea MillettExploring the Relationship Between Anxiety and Quality of Life in Women with Trisomy XTrisomy X
Sunday June 273:00 PM3:50 PMXXYY Open HouseGail DeckerGail DeckerXXYY
Sunday June 274:00 PM4:50 PMDepression: Diagnosis and Treatment in Persons with X/Y VariationDepression can and does occur in some persons with X/Y variation though risk may be higher for some groups relative to others. In this presentation I will discuss the criteria for a diagnosis of depression, the contribution of genetic, hormonal and environmental factors to risk, and current medication and psychotherapy approaches to treatment. I will also discuss the potential for making treatments more "personalized" for persons with X/Y variation in the future through precision medicine approaches.Allan Reiss, MD, Stanford University School of Medicine, Professor of Psychiatry, Radiology and PediatricsDr. Allan ReissBGAP Study Flyer | Article: Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidiesAll
Sunday June 275:00 PM6:00 PMFireside Chat/SendoffA wrap up party to celebrate our community.Carol MeerschaertCarol MeerschaertAll