The transition to independence and adult care for women with Turner syndrome: Current status and priorities of 1338 women and parents

2021 ◽  
Author(s):  
Courtney S. Streur ◽  
Emilia A. Floody ◽  
Zoe K. Lapham ◽  
David E. Sandberg
Keyword(s):  
Turner Syndrome ◽  
Current Status ◽  
Adult Care ◽  
Transition To Independence

scholarly journals Determinants of Medical Care for Young Women with Turner Syndrome

2009 ◽  
Vol 94 (9) ◽  
pp. 3408-3413 ◽  
Author(s):  
Marie Devernay ◽  
Emmanuel Ecosse ◽  
Joël Coste ◽  
Jean-Claude Carel
Keyword(s):  
Young Adult ◽  
Turner Syndrome ◽  
Low Socioeconomic Status ◽  
Short Form ◽  
Medical Center ◽  
Lipid Level ◽  
Adult Women ◽  
Adult Care ◽  
Gh Treatment

Context: Turner syndrome is associated with reduced life expectancy. Lifelong follow-up is strongly recommended, but follow-up during the transition between pediatric and adult care has been little evaluated. Objective: Our objective was to evaluate the medical follow-up of a population-based cohort of young adult patients. Design, Setting, and Patients: A questionnaire study was conducted with a national cohort of 568 women, aged 22.6 ± 2.6 yr (range, 18.3–31.2), a mean of 6 yr after stopping GH treatment (StaTur cohort). Main Outcome Measures: We assessed the proportion of patients with adequate follow-up at seven medical assessments over 4 yr and its determinants. Results: Most participants were followed by gynecologists or general practitioners. Medical assessments were performed in 16% (audiometry) to 68% (lipid level determinations) of participants, with little consistency in individual patients. Only 20 of 568 patients (3.5%) underwent all assessments in the 4-yr period. Multivariate analysis identified the type of physician as the only factor consistently associated with follow-up, which was more adequate with endocrinologists than with other physicians. Other variables associated with at least one adequate follow-up assessment were paternal socioeconomic class, education level, number of Turner syndrome disease components, size of the medical center following the patient in childhood, and physical health dimensions of Short Form 36 questionnaire. Conclusions: By contrast with the intensive medical follow-up in childhood, follow-up was grossly inadequate during the transition phase. During this phase, patients should be sent to physicians specializing in Turner syndrome and particular attention should be paid to patients with lower levels of education and from families of low socioeconomic status. This study finds adherence to recommended follow-up for young adult women with Turner syndrome is incomplete even when there is good access to care.

scholarly journals Health status, quality of life and medical care in adult women with Turner syndrome

2018 ◽  
Vol 7 (4) ◽  
pp. 534-543 ◽  
Author(s):  
Diana-Alexandra Ertl ◽  
Andreas Gleiss ◽  
Katharina Schubert ◽  
Caroline Culen ◽  
Peer Hauck ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Medical Care ◽  
Turner Syndrome ◽  
Reference Population ◽  
Care Quality ◽  
Study Cohort ◽  
Adult Women ◽  
Adult Care

Background Previous studies have shown that only a minority of patients with Turner syndrome (TS) have adequate medical care after transfer to adult care. Aim of this study To assess the status of medical follow-up and quality of life (QoL) in adult women diagnosed with TS and followed up until transfer. To compare the subjective and objective view of the medical care quality and initiate improvements based on patients’ experiences and current recommendations. Methods 39 adult women with TS out of 64 patients contacted were seen for a clinical and laboratory check, cardiac ultrasound, standardized and structured questionnaires (SF-36v2 and Beck depression inventory). Results 7/39 of the patients were not being followed medically at all. Only 2/39 consulted all the specialists recommended. Comorbidities were newly diagnosed in 27/39 patients; of these, 11 related to the cardiovascular system. Patients in our cohort scored as high as the mean reference population for SF-36v2 in both mental and physical compartments. Obese participants had lower scores in the physical function section, whereas higher education was related to higher physical QoL scores. Adult height slightly correlated positively with physical health. Conclusion Medical follow-up was inadequate in our study cohort of adults with TS. Even though their medical follow-up was insufficient, these women felt adequately treated, leaving them vulnerable for premature illness. Initiatives in health autonomy and a structured transfer process as well as closer collaborations within specialities are urgently needed.

Adult Care of Turner Syndrome

2019 ◽  
pp. 482-489
Author(s):  
Claus H. Gravholt ◽  
Mette Viuff ◽  
Kirstine Stochholm ◽  
Niels H. Andersen
Keyword(s):  
Turner Syndrome ◽  
Adult Care

scholarly journals Care of girls and women with Turner syndrome: beyond growth and hormones

2017 ◽  
Vol 6 (4) ◽  
pp. R39-R51 ◽  
Author(s):  
Caroline Culen ◽  
Diana-Alexandra Ertl ◽  
Katharina Schubert ◽  
Lisa Bartha-Doering ◽  
Gabriele Haeusler
Keyword(s):  
Turner Syndrome ◽  
Psychosocial Development ◽  
Sex Chromosome ◽  
Psychosocial Care ◽  
Adult Care ◽  
Increased Risk ◽  
Optimal Screening ◽  
Age Appropriate ◽  
Physical Features

Turner syndrome (TS), although considered a rare disease, is the most common sex chromosome abnormality in women, with an incident of 1 in 2500 female births. TS is characterized by distinctive physical features such as short stature, ovarian dysgenesis, an increased risk for heart and renal defects as well as a specific cognitive and psychosocial phenotype. Given the complexity of the condition, patients face manifold difficulties which increase over the lifespan. Furthermore, failures during the transitional phase to adult care result in moderate health outcomes and decreased quality of life. Guidelines on the optimal screening procedures and medical treatment are easy to find. However, recommendations for the treatment of the incriminating psychosocial aspects in TS are scarce. In this work, we first reviewed the literature on the cognitive and psychosocial development of girls with TS compared with normal development, from disclosure to young adulthood, and then introduce a psychosocial approach to counseling and treating patients with TS, including recommendations for age-appropriate psychological diagnostics. With this work, we aim to facilitate the integration of emphasized psychosocial care in state-of-the-art treatment for girls and women with TS.

scholarly journals Deficient knowledge in adult Turner syndrome care as an incentive to found Turner centers in Germany

2019 ◽  
Vol 8 (11) ◽  
pp. 1483-1492
Author(s):  
Elin Kahlert ◽  
Martina Blaschke ◽  
Knut Brockmann ◽  
Clemens Freiberg ◽  
Onno E Janssen ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Medical Management ◽  
Sex Chromosome ◽  
Clinical Manifestations ◽  
Cardiovascular Disorder ◽  
Adult Care ◽  
Multicenter Observational Study ◽  
Healthcare Data ◽  
Second Sex ◽  
Wide Range

Objective Turner syndrome (TS) is characterized by the complete or partial loss of the second sex chromosome and associated with a wide range of clinical manifestations. We aimed to assess the medical care of adult patients with TS in Germany. Design Retrospective multicenter observational study. Methods Data were collected from medical records of 258 women with TS treated between 2001 and 2017 in five non-university endocrinologic centers in Germany. Results Mean age was 29.8 ± 11.6 years, mean height 152 ± 7.7 cm, and mean BMI 26.6 ± 6.3 kg/m2. The karyotype was known in 50% of patients. Information on cholesterol state, liver enzymes, and thyroid status was available in 81–98% of women with TS; autoimmune thyroiditis was diagnosed in 37%. Echocardiography was performed in 42% and cardiac MRI in 8.5%, resulting in a diagnosis of cardiovascular disorder in 28%. Data on growth hormone therapy were available for 40 patients (15%) and data concerning menarche in 157 patients (61%). Conclusion In 258 women with TS, retrospective analysis of healthcare data indicated that medical management was focused on endocrine manifestations. Further significant clinical features including cardiovascular disease, renal malformation, liver involvement, autoimmune diseases, hearing loss, and osteoporosis were only marginally if at all considered. Based on this evaluation and in accordance with recent guidelines, we compiled a documentation form facilitating the transition from pediatric to adult care and further medical management of TS patients. The foundation of Turner Centers in March 2019 will improve the treatment of TS women in Germany.

scholarly journals The current status of 492 adult women with Turner syndrome: a questionnaire survey by the Foundation for Growth Science

2021 ◽  
Author(s):  
Kunihiko Hanew ◽  
Toshiaki Tanaka ◽  
Reiko Horikawa ◽  
Tomonobu Hasegawa ◽  
Susumu Yokoya
Keyword(s):  
Turner Syndrome ◽  
Questionnaire Survey ◽  
Current Status ◽  
Adult Women

TRANSITION-RELATED DISCUSSIONS AMONG ADOLESCENT FEMALES WITH TURNER SYNDROME: CURRENT PRACTICES AND ASSOCIATED FACTORS

2020 ◽  
Author(s):  
Nisha Patel ◽  
Shanlee Davis ◽  
Leena Nahata
Keyword(s):  
Turner Syndrome ◽  
Associated Factors ◽  
Assisted Reproductive Technologies ◽  
Hormone Replacement ◽  
Reproductive Technologies ◽  
Assessment Tools ◽  
Transition To Adult Care ◽  
Adult Care ◽  
Psychosocial Counseling ◽  
Transition Readiness

Objective: The purpose of this study was to examine current transition practices and factors associated with occurrence and timing of transition-related discussions among adolescents with Turner Syndrome (TS). Methods: A retrospective chart review was conducted at a large pediatric academic center among females with TS seen between 12–25 years of age. Medical/developmental characteristics, age of transition, documented transition-related discussions, and utilization of transition readiness assessment tools were abstracted. Analyses were conducted to examine age/occurrence of discussions and associated factors. Results: 112 patients’ records were reviewed. The average age of TS diagnosis was 7.6 + 5.8 years and average age of those that transitioned from pediatric to adult care (n=21) was 20.1 + 2.0 years. Only 22% of individuals had documented discussions regarding transition to adult care and no transition readiness tools were utilized. The majority of transition-related discussions began between 11–15 years. Estrogen and cardiovascular counseling were common (84% and 75% respectively). Less than half of subjects had reproductive (40%), lifestyle (43%), and psychosocial (12%) discussions. Cardiovascular conditions were associated with transition to adult care discussions and neurodevelopmental conditions were associated with psychosocial counseling. In those that transitioned to adult care, transition-related discussions occurred in only half of patients. Conclusion: Our findings emphasize the need for the development and implementation of a standardized transition process for adolescents with TS, with particular attention to transition to adult care, reproductive, lifestyle, and psychosocial counseling. The utilization of formal transition tools may also help prepare these girls for transition to adult care. Abbreviations: TS = Turner syndrome; ART = assisted reproductive technologies; EMR = electronic medical records; HRT = hormone replacement therapy.

scholarly journals MANAGEMENT OF ENDOCRINE DISEASE: Transition of care for young adult patients with Turner syndrome

2019 ◽  
Vol 180 (1) ◽  
pp. R1-R7 ◽  
Author(s):  
Valérie Bernard ◽  
Bruno Donadille ◽  
Tiphaine Le Poulennec ◽  
Mariana Nedelcu ◽  
Laetitia Martinerie ◽  
...  
Keyword(s):  
Young Adult ◽  
Turner Syndrome ◽  
Adult Patients ◽  
Adolescent And Young Adult ◽  
Adult Care ◽  
X Chromosomes ◽  
Reference Centre ◽  
Beneficial Impact ◽  
Care Systems ◽  
Family Advocacy

Turner syndrome (TS), affecting 1/2000 to 1/2500 live born girls, is a chromosomal aberration with a total or partial loss of one of the X chromosomes. The diagnosis can be established from the intra-uterine life to adulthood. TS is a chronic disease with particular morbidity and mortality. The loss to follow-up rate, during transition, between children and adult units, remains a crucial issue. This review focusses on the adolescent and young adult patients with TS. The different goals of TS transition are presented as well as some of the tools available in order to improve this transition. The involvement of the patient’s family, advocacy groups and therapeutic educational programs are discussed. A specificity concerning TS transition, as compared to other chronic diseases, relies on the fact that patients with TS may present a peculiar neurocognitive profile. They are in general more anxious than the general population. Therefore, psychological support should be offered to optimize transition. Data illustrating the beneficial impact of an organised transition of TS, from paediatric units to multidisciplinary adult care systems, within the same reference centre are presented. Further studies are required to evaluate the mid-to-long-term transition of paediatric patients with TS referred to adult units.

scholarly journals A192 A MEDICAL SUMMARY TEMPLATE FOR THE TRANSFER OF PATIENTS WITH INFLAMMATORY BOWEL DISEASE TRANSITIONING FROM PEDIATRIC TO ADULT CARE

2021 ◽  
Vol 4 (Supplement_1) ◽  
pp. 209-210
Author(s):  
E I Benchimol ◽  
W Afif ◽  
S Plamondon ◽  
D Newhook ◽  
S G Nicholls ◽  
...  
Keyword(s):  
Focus Group ◽  
Focus Groups ◽  
Health Care Providers ◽  
Nurse Practitioners ◽  
Mode Of Delivery ◽  
Current Status ◽  
Care Providers ◽  
Adult Care ◽  
Essential Information ◽  
Process Factors

Abstract Background The transfer of information in a medical summary letter is a key aspect of the transition of adolescent patients with IBD from pediatric to adult care. The existing template from the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) is nearly 20 years old, and the many intervening changes to the care of children with IBD necessitate a new template to reflect modern care. Aims We developed a standardized medical summary template based on the feedback of adult and pediatric IBD health care providers. Methods We purposively sampled gastroenterologists (GIs) or nurse practitioners (NPs) caring for patients with IBD in Montreal, Ottawa, Toronto or Vancouver and invited them to take part in focus group discussions. Gastroenterologists caring for <50 IBD patients in the past 2 years were excluded. We invited 30 local academic or community-based physicians and nurse-practitioners, of whom 17 (56.7%) agreed to participate. Four focus groups were conducted, consisting of: 1) adult GIs practicing in Ottawa; 2) adult GIs practicing in Montreal and Sherbrooke; 3) paediatric GIs and NPs practicing in Ottawa, Montreal, Toronto or Vancouver; 4) a mixed group consisting of most participants from the preceding three groups. Focus groups employed a semi-structured approach and were recorded with consent. Informed by conventional content analysis, we inductively coded the focus group transcripts to identify all areas of priority for inclusion in the template. The final mixed focus group finalized the template content based information from the preceding groups. Results Content areas of importance (see Table) were: patient/disease characteristics, therapeutics history, clinical history and current status, noteworthy investigations, history of complications, family history, immunization history, and psychosocial history. In addition, the template addressed health system process factors (i.e., urgency of transfer, mode of delivery, confidentiality) to ensure a seamless transfer to adult care. Conclusions The standardized medical summary template should be used by pediatric providers to ensure that essential information is sent to the receiving adult provider. Funding Agencies Transition des patients avec Crohn et colite (TRACC) program

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