ABSTRACT
Context: Differences of sex development (DSD) represent a wide range of conditions presenting at different ages to various health professionals. Establishing a diagnosis, supporting the family, and developing a management plan are important. Objective: We aimed to better understand the presentation and prevalence of pediatric DSD. Methods: A retrospective, observational cohort study was undertaken in a single tertiary pediatric center of all children and young people (CYP) referred to a DSD multidisciplinary team over 25 years (1995-2019). In total, 607 CYP (520 regional referrals) were included. Data were analyzed for diagnosis, sex-assignment, age and mode of presentation, additional phenotypic features, mortality, and approximate point prevalence. Results: Among the 3 major DSD categories, sex chromosome DSD was diagnosed in 11.2% (68/607) (most commonly 45,X/46,XY mosaicism), 46,XY DSD in 61.1% (371/607) (multiple diagnoses often with associated features), while 46,XX DSD occurred in 27.7% (168/607) (often 21-hydroxylase deficiency). Most children (80.1%) presented as neonates, usually with atypical genitalia, adrenal insufficiency, undescended testes or hernias. Those presenting later had diverse features. Rarely, the diagnosis was made antenatally (3.8%, n = 23) or following incidental karyotyping/family history (n = 14). Mortality was surprisingly high in 46,XY children, usually due to complex associated features (46,XY girls, 8.3%; 46,XY boys, 2.7%). The approximate point prevalence of neonatal referrals for investigation of DSD was 1 in 6347 births, and 1 in 5101 overall throughout childhood. Conclusion: DSD represent a diverse range of conditions that can present at different ages. Pathways for expert diagnosis and management are important to optimize care.
ABSTRACT
BACKGROUND: There is little understanding of the mental health impact for young people with long-term physical health conditions and mental health professionals' experiences of supporting them during COVID-19. This service evaluation aimed to conduct a survey of the psychological services provided by mental health professionals in a paediatric hospital in relation to COVID-19. METHOD: Clinical psychologists and assistant psychologists (n = 76) across the hospital were asked to complete a survey, asking about their perceptions of COVID-19's impact on patients and families and experiences of providing support during COVID-19. Open-ended survey questions were analysed qualitatively using framework analysis. RESULTS: Respondents described perceived impacts on patients and families around social isolation, school closure, family relationships, physical health, mental health, treatments and social support. Respondents' experiences of providing mental health support during COVID-19 highlighted themes around providing remote/virtual support, workload and facilitators and barriers to their work. CONCLUSIONS: Mental health professionals surveyed reported a complex mental health landscape in young people with long-term physical health conditions and their families during COVID-19. Service-wide involvement is needed to facilitate changes to support vital adaptations to remote/virtual working. Research on the mental health of young people with long-term physical health conditions and staff experiences of providing support is warranted.
