Development and evaluation of a patient education programme for children, adolescents, and young adults with differences of sex development (DSD) and their parents: study protocol of Empower-DSD.

BACKGROUND: Differences in sexual development (DSD) are rare diseases, which affect the chromosomal, anatomical or gonadal sex differentiation. Although patient education is recommended as essential in a holistic care approach, standardised programmes are still lacking. The present protocol describes the aims, study design and methods of the Empower-DSD project, which developed an age-adapted multidisciplinary education programme to improve the diagnosis-specific knowledge, skills and empowerment of patients and their parents. METHODS: The new patient education programme was developed for children, adolescents and young adults with congenital adrenal hyperplasia, Turner syndrome, Klinefelter syndrome or XX-/or XY-DSD and their parents. The quantitative and qualitative evaluation methods include standardised questionnaires, semi-structured interviews, and participatory observation. The main outcomes (assessed three and six months after the end of the programme) are health-related quality of life, disease burden, coping, and diagnosis-specific knowledge. The qualitative evaluation examines individual expectations and perceptions of the programme. The results of the quantitative and qualitative evaluation will be triangulated. DISCUSSION: The study Empower-DSD was designed to reduce knowledge gaps regarding the feasibility, acceptance and effects of standardised patient education programmes for children and youth with DSD and their parents. A modular structured patient education programme with four generic and three diagnosis-specific modules based on the ModuS concept previously established for other chronic diseases was developed. The topics, learning objectives and recommended teaching methods are summarised in the structured curricula, one for each diagnosis and age group. At five study centres, 56 trainers were qualified for the implementation of the training programmes. A total of 336 subjects have been already enrolled in the study. The recruitment will go on until August 2022, the last follow-up survey is scheduled for February 2023. The results will help improve multidisciplinary and integrated care for children and youth with DSD and their families. TRIAL REGISTRATION: German Clinical Trials Register, DRKS00023096 . Registered 8 October 2020 - Retrospectively registered.

["I Didn't Think I would be Put under Pressure Like That." Supporting and Inhibiting Factors on Access Paths to Early Prevention Programs from Parents' View]. / "So unter Druck gesetzt zu werden, das hab' ich nicht gedacht." Fördernde und hemmende Einflüsse auf Zugangswege zu den Frühen Hilfen aus Sicht der Eltern.

BACKGROUND: The German early prevention programs called "Frühe Hilfen" are open to all families with children up to 3 years old and focus on families experiencing psychosocial stress and in need of support. Families with strong psychosocial risk factors are less likely to gain access to support programs than families with lower psychosocial risk factors. OBJECTIVE: This study identifies enabling and inhibiting factors for access to early prevention programs. MATERIALS AND METHODS: Qualitative partially structured interviews were carried out with parents (N=17) from families (N=13) who had taken part in psychosocial counseling after a professional had identified support needs and recommended an early prevention program. The interviews were transcribed and interpreted using content analysis according to Mayring. RESULTS AND DISCUSSION: Parents find clear and trustworthy communication during counseling sessions to be conducive to finding access to support programs. A barrier emerges when parents feel put under pressure or do not feel a need for support. Counseling should be offered at different points in time (e. g. pregnancy, puerperium). CONCLUSION: Open, trusting, and judgement-free communication in combination with participative decisionmaking is a promising approach when it comes to parent counseling.

Predictors and reasons for help-seeking behavior among women with urinary incontinence.

INTRODUCTION AND HYPOTHESIS: The aim of the study was to evaluate the predictors and reasons for help-seeking behavior among women with urinary incontinence (UI) in Germany and Denmark. METHODS: This international postal survey was conducted in 2014. In each country, 4,000 women of at least 18 years of age were randomly selected. The questionnaires included validated items regarding help-seeking behavior and the ICIQ-UI SF. UI was defined as any involuntary loss of urine. Binary logistic regression analysis was used to assess factors predicting help-seeking behavior. Reasons for seeking or not seeking help were evaluated in terms of the severity of UI and as the most frequently reported. RESULTS: Of 1,063 Danish women with UI, 25.3% had consulted a physician compared with 31.4% of 786 German women with UI (p = 0.004). The severity and duration of UI, and actively seeking information regarding UI, were significant independent predictors of help-seeking behavior. Women with slight/moderate UI did not seek help because they did not consider UI as a problem, whereas of women with severe/very severe UI, German women reported that other illnesses were more important and Danish women reported that they did not have enough resources to consult a physician. CONCLUSIONS: Only a small proportion of women with UI had consulted a physician, and the driving forces for help-seeking behavior were severity and duration of UI and actively seeking information regarding UI. Public information campaigns might enhance consultation rates providing that passively receiving and actively seeking information have the same effects on help-seeking behavior. We show for the first time that reasons for not consulting a physician for UI vary depending on the severity of the UI.

Subjective need for psychological support (PsySupp) in parents of children and adolescents with disorders of sex development (dsd).

UNLABELLED: Disorders/diversity of sex development (dsd) is an umbrella term for congenital conditions often diagnosed within childhood. As most parents are unprepared for this situation, psychological support (PsySupp) is recommended. The aim of this study was to analyse the extent to which parents express a need for PsySupp. Three hundred twenty-nine parents of children with dsd were included; 40.4 % of the parents indicated to have a need for PsySupp, only 50 % of this group received it adequately. The diagnoses partial gonadal dysgenesis, partial androgen insensitivity syndrome (pAIS) and disorders of androgen synthesis are associated with a high need for PsySupp in parents (54, 65, and 50 %). Sex assignment surgery neither reduced nor increased the need for PsySupp. Taking a picture, radiography, laparoscopy, gonadal biopsy, gonadectomy and hormonal puberty induction are associated with a high need for PsySupp. There was no association between the need for PsySupp and the parents' perception of the appearance of the genitalia. CONCLUSION: Having a child with dsd is associated with a high need for PsySupp in parents. In particular, parents of children with XY-dsd with androgen effects other than hypospadias expressed a high need of PsySupp. PsySupp for parents should be an obligatory part of interdisciplinary care to reduce fears and concerns. What is known • In parents, having a child with dsd provokes insecurities and fears. Hence, psychological support is recommended as part of the interdisciplinary care. What is new • This is the first study investigating the subjective need for psychological support in a large sample of parents of children with dsd in Germany. We present data on the subjective need for psychological support of the parents, related diagnoses and factors, which should be considered in psychological counselling.

Utilization of health care services and satisfaction with care in adults affected by disorders of sex development (DSD).

BACKGROUND: Disorders of sex development (DSD) are a heterogeneous group of rare genetic disorders of sex determination or differentiation. Evidence-based guidelines concerning gender assignment and surgical and hormonal treatment are limited for many DSD entities, and health care is highly fragmented across various sub-specialties and settings. A lack of informed consent, secrecy about the condition, shame, and impaired sexual and psychosocial functioning may affect satisfaction with care. OBJECTIVES: The main goal of this study was to describe satisfaction with care in individuals with DSD and to identify factors associated with low satisfaction with care. METHODS/MAIN MEASURES: Using both biological (chromosomes) and social categories (sex of rearing), we classified participants according to the nomenclature of the European Society for Pediatric Endocrinology/Lawson Wilkins Pediatric Endocrine Society (ESPE/LWPES) consensus statement. We used standardized measures to assess satisfaction with care (CSQ-8), health-related quality of life (SF-36), psychological symptoms (BSI), and gender identity (FGI), in addition to self-constructed questionnaires probing experiences with health care and access to self-help groups. PARTICIPANTS: A total of 110 adults were recruited between January 2005 and December 2007 in four study centers in Germany, Austria, and German-speaking Switzerland. RESULTS: Reports of half the participants scored below the cut-off indicating low quality of care. Women with XX DSD conditions and virilization (i.e., congenital adrenal hyperplasia) reported the highest scores for satisfaction with care, and women with XY DSD conditions and complete lack of androgen effects reported the lowest scores. Satisfaction with care was positively associated with indicators of psychological well-being. CONCLUSIONS: Satisfaction with care is lowest among participants with the rarest conditions, highlighting the lack of evidence-based recommendations and the lack of coordination of care. Associations of satisfaction and well-being indicate the need to ensure access to mental health services.

Health-related quality of life in children with disorders of sex development (DSD).

UNLABELLED: Disorders of sex development (DSD) are rare genetic conditions resulting in atypical development of the sex organs. While some evidence is available on psychosexual outcomes, much less is known about the quality of life in this population, especially in children. Health-related quality of life (HRQOL) is a widely accepted endpoint for assessment and evaluation of interventions and medical care. Within the German DSD Network study, 86 children aged 8-12 years with several subtypes of DSD were recruited from Germany, Austria and Switzerland. Demographic, medical and psychosocial variables were collected through interviews of the attending physicians, the children and the parents. HRQOL was the primary outcome. It was assessed by the KINDL-R Questionnaire [2001]. Psychosexual determinants included gender identity/gender dysphoria, gender role behaviour, the child's knowledge about the condition and number/timing of genital surgery. A significant reduction of HRQOL was reported in children's self-report (p < 0.001), in particular in the area of self-esteem (p < 0.001), physical well-being (p < 0.01) and school functioning (p < 0.05). Girls with congenital adrenal hyperplasia who experienced gender dysphoria reported lower HRQOL scores compared to the study group at large. Atypical gender role behaviour was not associated with HRQOL. CONCLUSION: Psychosocial support of children with DSD and their families appears to be necessary in at least some cases and must be accessible for all patients.

Psychosexual development in adolescents and adults with disorders of sex development--results from the German Clinical Evaluation Study.

INTRODUCTION: Both biological and psychosocial factors influence psychosexual development. High levels of pre- and postnatal androgens lead to more male-typical behavior. So far, the influence of androgens on gender identity and sexual orientation is unclear. Disorders of sex development (DSDs) are heterogeneous genetic conditions with different levels of prenatal androgens resulting in variations of genital development. Through DSD, the role of the different factors, especially androgen exposure, on psychosexual development can be evaluated. AIM: The purpose of the study was to assess psychosexual development in adolescents and adults with different forms of DSD. METHODS: For the examination of psychosexual development of 66 adolescents and 110 adults with DSD, the authors used the Utrecht Gender Dysphoria Scale for adolescents, the Questionnaire of Gender Identity for adults, and a condition-specific DSD study questionnaire. Individuals were analyzed in four subgroups reflecting the karyotype, absence/presence of androgen effects, and gender of rearing. MAIN OUTCOME MEASURES: Main outcome measures used were gender identity, friendships, love and sexual relationships, and sexual orientation in adolescents and adults with DSD. RESULTS: Individuals with DSD did not show increased gender dysphoria. However, partnership and sexuality were identified to be difficult areas of life. Both adolescents and adults with DSD reported fewer experiences regarding love or sexual relationships compared with unaffected individuals. Especially men with DSD and undervirilization and women with DSD and androgen effects less often had a love relationship. Adult women with DSD and androgen effects more frequently engaged in love and sexual relationships with individuals of the same gender compared with women without DSD. CONCLUSION: Individuals with DSD experience atypical hormonal influences (higher levels of androgens in girls/women and lower levels in androgens in boys/men); however, they did not show increased gender dysphoria in this study. However, partnership and sexual relationships are difficult areas of life for adolescents and adults with DSD. We recommend that individuals with DSD should get support from a multiprofessional team with competency in assessing and counseling issues regarding relationships and sexuality. Contact to other individuals with DSD can be helpful for nonprofessional support and exchange of experiences.

Contexts of care for people with differences of sex development: Diversity is still missing in the laboratory routine.

The 2006 Chicago consensus statement of management of disorders/difference of sex development (DSD) has achieved advantages in clinical care and diagnosis for patients and families affect by DSD. This article provides a brief overview of contexts of care for physicians, and points out specific challenges in clinical practice that have arisen from the transformations of the sex/gender system in recent years. We focus on the impact of diagnosis and laboratory measurements. Both laboratory measurements and hormonal therapies still depend on the binary system. One problem is the lack of reference intervals for the different forms of DSD, which means that diversity is often neglected. In the following, we will give a brief insight into this complex topic.

Diagnosis of DSD in Children-Development of New Tools for a Structured Diagnostic and Information Management Program within the Empower-DSD Study.

BACKGROUND: Current recommendations define a structured diagnostic process, transparent information, and psychosocial support by a specialized, multi-professional team as central in the care for children and adolescents with genital variations and a suspected difference of sex development (DSD). The active involvement of the child and their parents in shared decision-making should result in an individualized care plan. So far, this process has not been standardized. METHODS: Within the Empower-DSD study, a team of professionals and representatives of patient advocacy groups developed a new diagnostic and information management program based on current recommendations and existing patient information. RESULTS: The information management defines and standardizes generic care elements for the first weeks after a suspected DSD diagnosis. Three different tools were developed: a guideline for the specialized multiprofessional team, a personal health record and information kit for the child with DSD and their family, and a booklet for medical staff not specialized in DSD. CONCLUSIONS: The new information management offers guidance for patients and professionals during the first weeks after a DSD diagnosis is suspected. The developed tools' evaluation will provide further insight into the diagnostic and information-sharing process as well as into all of the involved stakeholders' needs.

Early detection of oral cancer: a key role for dentists?

PURPOSE: The majority of suspected malignant changes in the oral mucosa are detected by dentists in private practice. Statements regarding the effectiveness of visual examination of the oral cavity for early detection are not necessarily transferable between different health care systems. Our clinical-epidemiological and methodological aim was thus to conduct a prospective regional study in dental practices under everyday conditions, assess the frequency and type of oral mucosal changes, and evaluate the dental examination methodology. METHODS: A prospective observational study was conducted, combining a feasibility study of early detection of oral cancer and its documentation with phase I 'modelling' to conceptualize complex interventions in health services research. Dentists in private practice continuously recruited patients over 6 months and used two different sheets for the documentation of suspicious lesions. Statistical analysis involved descriptive statistics and tests for differences (Welch test) or association (Chi-squared test). RESULTS: Twenty-five dentists (mean age: 50 years, 24% females) participated in this study. Eleven dentists achieved the overall aim of recruiting 200 patients. Around 4200 patients (mean age: 52 years, 57.5% females) participated. The prevalence of suspicious lesions was 8.5%. CONCLUSION: It became apparent that a study in cooperation with dentists in private practice to generate clinical-epidemiological data on the early detection of oral mucosal lesions under everyday conditions can be carried out successfully. Further studies with a corresponding level of evidence should be carried out to be able to draw conclusions about the effectiveness of the early detection measure under everyday practice conditions.

Assessing the health-related management of people with differences of sex development.

PURPOSE: Health care requirements and perception of people with differences of sex development (DSD) have changed enormously since the "Chicago Consensus Conference" in 2005. Therefore, new standards of care and evaluation of care have to be developed. METHODS: We summarize the social and legal approach to care for DSD during the last two decades and report the main results of European research activities. RESULTS: The last two decades were accompanied by legal and societal discussion regarding how to deal with a nonbinary concept of sex. This leads to the necessity to assess health care requirements for individuals with DSD in an objective manner. We briefly review the results of the recently funded European research projects dealing with health-related issues in DSD like EU COST Action DSD, I-DSD, and dsd-LIFE, and address the compilation of quality indicators that will be needed to benchmark health care provision and health care-related outcomes. CONCLUSIONS: The benchmarking process has to be implemented among health care providers for individuals with DSD within the European Reference Networks for Rare Conditions.

Clinical evaluation study of the German network of disorders of sex development (DSD)/intersexuality: study design, description of the study population, and data quality.

BACKGROUND: The German Network of Disorders of Sex Development (DSD)/Intersexuality carried out a large scale clinical evaluation study on quality of life, gender identity, treatment satisfaction, coping, and problems associated with diagnoses and therapies in individuals with disorders of sex development (DSD). DSD are a heterogeneous group of various genetic disorders of sex determination or sex differentiation, all of which are rare conditions. In about half of all cases the molecular genetic diagnosis is unknown and diagnosis rests on clinical features. METHODS AND DESIGN: The multi-centre clinical evaluation study includes short-term follow-up in some and cross-sectional assessments in all age and diagnostic groups fitting the criteria of DSD. Recruitment was from January 2005 until December 2007 in whole Germany and, additionally, in 2007 in Austria and German-speaking Switzerland. The study consists of a psychosocial inquiry for children, adolescents and their parents, and adults with standardized instruments and the collection of DSD-specific medical data by the attending physician. The main goal was the description of clinical outcomes and the health-care situation of individuals with DSD using a broad generic definition of DSD including all conditions with a mismatch of chromosomal, gonadal and phenotypical sex. 439 children and adolescents, their parents and adults with DSD participated. DISCUSSION: The clinical evaluation study represents the most comprehensive study in this clinical field. The paper discusses the study protocol, the data management and data quality as well as the classification used, and it describes the study population. Given the lack of large datasets in rare conditions such as DSD and often biased results from small scale clinical case series, the study aims to generate concrete hypotheses for evidence-based guidelines, which should be tested in further studies.

Interviewers as Intruders? Ethical Explorations of Joint Family Interviews.

This paper discusses a case vignette that captures an ethically challenging situation in qualitative research. The study was about families who had experienced a life-saving bone marrow transplantation between siblings, who were children at the time of transplantation. A difficult situation emerged during a joint family interview that took place a few years after the transplantation. Parents, donor and the recipient were present, both still children. This interview technique produced unique, rich, and nuanced data about the family dynamics, about how the family constructed relationships and identity ("doing family"). The difficulties included a confrontation of the 10-year old donor child with accusations and pejorative statements from the other family members and his sidelining from the conversation. The interviewers have been acutely aware that their presence in this situation in this moment was an intrusion into family dynamics. In his commentary, Simon Woods emphasizes a model of ethical reflexivity, which shows how reflexive researchers can incorporate moral reflection at the different stages of the research process. Tim Henning argues for a morally engaged interviewer: the researcher should not stay uninvolved and should show willingness to actually engage in a moral discourse with the participants. Since the actual harms were caused not during the interviews but long before, it may be beneficial to bring them out in the open, as a matter for discussion, painful though it may be. The authors of the vignette (Madeleine Herzog, Martina Jürgensen, Christoph Rehmann-Sutter and Christina Schües) respond to the commentaries by endorsing the model of the reflexive researcher while rejecting (for methodological and moral reasons) the model of the morally engaged researcher.

Puberty in disorders of somatosexual differentiation.

Despite enormous advances in the understanding of the molecular mechanisms of sexual differentiation, the medical decisions made in patients with disorders of somatosexual differentiation are mostly lacking evidence-based principles. Recent critical discussions have focused on approaches to gender assignment in infants with ambiguous genitalia. These decisions must be based on the correct diagnosis to be able to predict the development during puberty and adulthood in the affected individual. Puberty in this process plays a pivotal role not only because of the physical changes induced by endogenous or supplementary sex steroids to enhance the sex of rearing, but it is also the time for sexual orientation and promotion of gender identity. In this review we focus not only on the molecular impact of sex steroid action, but also view current opinions and studies on the gender development of the intersex patient during puberty.

["That you stay free, but always know there is this support rod that I need"]. / "Dass man also frei bleibt, aber immer das Gefühl hat: Da ist diese Haltestange, die ich brauch"

OBJECTIVE: Models of integrated care (IC) have a high potential to improve psychiatric care in a sectored health care system. The present study aims to delineate differences in the perception of psychiatric care after introduction of a regional IC-model in schizophrenic patients and family caregivers. METHODS: Six focus group interviews with n = 32 schizophrenic patients and three with n = 17 family caregivers either from the region with IC-model or a nearby control region were conducted. Categories of the contents of transcribed interviews were developed and subsequently compared between persons with and without experience of IC. RESULTS: Most participants of the IC-group were not aware to participate in an IC-model. Differences between IC- vs. non-IC groups were primarily related to feelings of security and experiences of flexibility of care which was ensured by the outpatient nursing service in the IC-model. This was noticeable both in daily living and in coping with crisis. No substantial differences were found with regard to the experience of cooperation of professionals, information and psychoeducation of patients as well as support for family caregivers, amongst others. CONCLUSIONS: IC will play an important part in the psychiatric care of schizophrenic patients. It has the potential to integrate sustainable relations, general availability and needs-related care provision.

Psychological adjustment and sexual development of adolescents with disorders of sex development.

PURPOSE: Disorders of sex development (DSD) are a heterogeneous group of congenital conditions characterized by an atypical development of chromosomal, gonadal, or anatomical sex. Particularly at the time of expected puberty, adolescents with DSD may become aware of being different from peers. This study explores the effect of DSD on psychosocial well-being and sexual development. METHODS: We interviewed 60 adolescents aged 13-16 years with a DSD. To measure health-related quality of life, mental health, and body image, we used standardized instruments and additional questions related to sexuality and coping with DSD. Reference and control data were available from the German Health Survey for Children and Adolescents (Kiggs) and from a secondary school survey. RESULTS: The general psychological well-being of adolescents with DSD was not impaired. However, outcomes related to adolescent developmental tasks like sexual activities demonstrated impaired participation, especially girls with DSD reported fewer sexual activities than female controls. Adolescents who needed hormonal treatment to induce puberty reported impaired well-being in nearly all outcomes in contrast to those who entered puberty spontaneously. CONCLUSIONS: Interdisciplinary health care teams should focus on the pressure of conformity and openly discuss it with the adolescent in context of treatment decisions. Furthermore, special counseling concerning sexuality and coping with the condition in daily life is needed.

Gender role behavior in children with XY karyotype and disorders of sex development.

Children exhibit gender-typical preferences in play, toys, activities and interests, and playmates. Several studies suggest that high concentrations of pre- and postnatal androgens contribute to male-typical behavior development, whereas female-typical behavior develops in the absence of high androgens levels. This study aims to explore the consequences of hypoandrogenization on gender-typical behavior in children who have an XY karyotype and disorder of sex development (DSD). Participants included 33 children (ages 2-12 years) with an XY karyotype and DSD; 21 reared as girls and 12 reared as boys. Children's preferred activities and interests and playmate preferences were assessed with parent report questionnaires, a structured free-play task, and choice of a toy to keep as a gift. Participant's responses were compared to those of children recruited in a pre-school and elementary school survey (N=166). In this study, the degree of hypoandrogenization as indicated by genital stage and diagnosis showed a significant relationship to nearly all of the gender-related behaviors assessed, supporting the hypothesis that masculinization of gender role behavior is a function of prenatal androgen exposure. Despite the fact that children with partial androgen effects reared as girls showed increased "boyish" behaviors, they did not show increased signs of gender identity confusion or instability on a group level. We conclude that androgen exposure plays a decisive role in the development of gender-typical behavior in children with XY karyotype and DSD conditions.

"Any decision is better than none" decision-making about sex of rearing for siblings with 17beta-hydroxysteroid-dehydrogenase-3 deficiency.

Children with 17beta-hydroxysteroid-dehydrogenase-3 (17beta-HSD-3) deficiency have a defect of testosterone biosynthesis with subsequent diminished virilization in XY individuals. Some are raised as girls and some as boys. There were two purposes of this case report: First, it analyzed the process of decision-making in a family with a pair of siblings with identical mutations leading to 17beta-HSD-3 deficiency whose parents chose to raise one child as a boy and one as a girl. This analysis was based on narrative interviews with the parents. Second, we assessed the gender role behavior and gender identity in the children to examine if the psychosexual development of these children correspond with the sex of rearing their parents chose. When participating in the study, the children were 7 (boy) and 5 (girl) years old. Parents described a difficult process of decision-making and voiced concerns about lack of appropriate and understandable information, and anticipated decision regret. However, they did not feel that the decision to "normalize" the external genitalia should have been deferred. Both children appeared to show age-typical gender-related behavior and did not show any signs of physical or mental distress.