Associations of Laboratory- and Field- derived Measurements of Critical Power with W'-kinetics during 40-km Cycling Time Trial Performances.

This study aimed to establish whether a laboratory (lab) based 3-minute all-out (3MT) protocol and a field-based 3MT protocol would yield similar peak power (P), critical power (CP), and curvature constant (W') profiles and the implications of parameter estimation for informing a 40-km time trial (TT) performance. Nine competitive male cyclists (mean ± SD: age 36.5 ± 10.

Examining Associations Between Social Experiences and Loneliness Among Autistic Youth.

To develop targeted interventions aimed at reducing loneliness among autistic youth, it is critical to understand which social experiences are associated with loneliness in this population. The current study examined associations between loneliness, social interaction/solitary experiences (i.e.

Effects of a parent advocacy intervention on service access for transition-aged autistic youth: a multisite randomized controlled trial.

Background: Autistic youth in the United States face many challenges accessing services as they transition to adulthood. Improving parents' ability to advocate for services is a promising way to improve service access. The current study tested whether participation in an intervention to improve parents' ability to advocate for adult services (called Advocating for Supports to Improve Service Transitions or ASSIST) led to increased service access for their transition-aged autistic youth.

New Models for Risk-Adjusted Monitoring of Postsurgical Complications and Mortality in Adult Congenital Heart Disease in England and Wales.

Background: Routine monitoring of surgical outcomes can improve service quality. Risk-adjusted monitoring tools for adults with congenital heart disease (CHD) in England and Wales are lacking.

Methods: Using national audit data of all adult CHD surgical procedures in public hospitals from 2015 to 2022, we developed logistic regression models for mortality at 30 days and 90 days and a 30-day complications outcome.

Optimising Paediatric Transition to Intensive Care for Adults (OPTICAL): study protocol for a mixed method study.

Introduction: An increasing number of teenagers and young adults (TYA) with chronic conditions and complex needs are transitioning from paediatric to adult services, including admission to intensive care units (ICUs). As these services are often ill-equipped to care for TYA, there is a risk of compromised care. Despite recent guidelines from the UK Paediatric Critical Care and Intensive Care Societies highlighting the importance and urgency of improving ICU transition, current recommendations are not evidence-based and established pathways for ICU transition remain limited.

Epistemologies, methodologies and theories used in qualitative Global North health and social care research: a scoping review protocol.

Introduction: In qualitative research, there are different approaches to defining and engaging with social reality. Epistemology, as the study of knowledge and knowledge creation, influences the methodologies and theories used by researchers. A growing literature questions the universality of Western-centric and Global North research methodologies and theories and highlights their Western epistemological roots.

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.

Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders Gene Curation Expert Panel (SD-GCEP) was formed to address an unmet need.

Methods: The SD-GCEP applied ClinGen's framework to evaluate the clinical validity of genes associated with rare syndromic disorders. A total of 111 gene-disease relationships (GDRs) associated with 100 genes spanning the clinical spectrum of syndromic disorders were curated.

The Experiences of People From Ethnic Minority Backgrounds Living in Care Homes-A Qualitative Systematic Review.

Unlabelled: The experiences of people from ethnic minority backgrounds living in care homes-A qualitative systematic review.

Aim: Despite the increasing need for older people from ethnic minority backgrounds to be able to access good quality, culturally competent care home provision, globally, there is an absence of literature exploring care home residents' perspectives. This study conducted a systematic review, identifying and synthesising qualitative evidence, which explored the experiences of residents', and their families, from ethnic minority backgrounds, who live in care home settings.

Exploring voluntary sector specialist services for victim-survivors of sexual violence in England: the PROSPER co-production study.

Background: There is increasing recognition in England that voluntary sector specialist sexual violence services are essential in providing crisis and longer-term support to victim-survivors. However, there is limited empirical evidence about the scope, range and effectiveness of voluntary sector specialist provision and commissioning, or what victim-survivors want from services.

Objectives: Explore victim-survivors' experiences of accessing and using voluntary sector specialist services.

Correlates of self-reported life satisfaction among autistic youth with and without intellectual disability.

Compared to their nonautistic peers, lower levels of life satisfaction have been reported by autistic individuals. It is unclear, however, whether autistic individuals with intellectual disability report similar levels of life satisfaction as autistic individuals without intellectual disability or which characteristics are associated with life satisfaction. This study sought to examine differences in levels of self-reported life satisfaction across those with and without intellectual disability and explore correlates of life satisfaction in a sample of 35 autistic youth with intellectual disability and 99 autistic youth without intellectual disability.

Delayed diagnosis of ataxia with oculomotor apraxia type 2 in a Peruvian patient, a case report.

Introduction: Ataxia with oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia characterized by progressive cerebellar ataxia, sensorimotor peripheral neuropathy, and occasional oculomotor apraxia.

Case Report: A 50-year-old male with a history of orthopedic shoe use since childhood presented with slowly progressive ataxia and neuropathy. Laboratory tests showed elevated serum alpha-fetoprotein levels and increased total cholesterol.

The Role of Parent Advocacy in Autistic Youths' Self-Determination.

Parent advocacy is important for the transition outcomes of autistic youth. However, it is unclear whether parent advocacy efforts support or stifle youths' self-determination. This study examined concurrent (n = 180) and longitudinal (n = 134) associations between parent advocacy and transition-aged autistic youths' self-determination (as reported by parents) and explored whether individual and family characteristics moderated this relationship.

Satisfaction with friendship support protects autistic youth from the negative effects of peer victimization.

Autistic youth experience higher rates of peer victimization than their non-autistic peers. While there is some evidence that friendships may protect against the negative mental health effects of peer victimization in the general population, these protective effects have not been examined in autistic youth. The current study explored whether satisfaction with friendship support is associated with depressive symptoms among autistic youth, and whether satisfaction with friendship support buffers against the negative effects of peer victimization on mental health.

The Vocational and Educational Index: An Update to the Vocational Index to Reflect Contemporary Postsecondary Educational Options for Autistic Adults.

The Vocational Index, a tool to reliably capture the range of vocational and educational activities in which adults with autism engage, is regularly used in studies of adult outcomes in autism. However, recently it has been noted that there are some activities (primarily postsecondary education options) that were infrequently available when the index was developed and thus are not fully represented in the current categories. The purpose of this report is to describe the process and results of updating the Vocational Index coding categories to reflect this wider range of activities.

Expanding Research on Contextual Factors in Autism Research: What Took Us So Long?

Although autism is a childhood-onset neurodevelopmental disorder, its features change across the life course due to a combination of individual and contextual influences. However, the influence of contextual factors on development during childhood and beyond is less frequently studied than individual factors such as genetic variants that increase autism risk, IQ, language, and autistic features. Potentially important contexts include the family environment and socioeconomic status, social networks, school, work, services, neighborhood characteristics, environmental events, and sociocultural factors.

Systematic review and meta-analysis of the pelvic organ prolapse and vaginal prolapse among the global population.

Background: Pelvic organ prolapse (POP) occurs when one or more pelvic organs (uterus, bowel, bladder or top of the vagina) descend from their normal position and bulge into the vagina. Symptoms include pelvic discomfort, fullness, and changes in bladder or bowel function. Treatment ranges from conservative approaches to surgery, depending on symptom severity.

Exploring the experiences of children's palliative care for forced migrant families in the United Kingdom: an interpretative phenomenological study.

Introduction: This study focused on understanding the experiences of forced migrant families and the health care professionals who care for them within palliative care. Palliative care for children requires an active, holistic approach to care, with a focus upon improving quality of life. Forced migrant families encounter a range of additional challenges including the loss of family, belongings, and all sources of familiarity and support.

Patterns and correlates of two-year changes in depressive symptoms for autistic adults.

Background: Autistic adults are at elevated risk for depression. However, longitudinal data on the trajectory of depressive symptoms and its associated factors in autistic adults are scarce.

Methods: A community sample of 315 autistic adults participated in a two-year longitudinal study from the beginning of (March 2020) to the recovery from the COVID-19 pandemic (March 2022).

The risk of immune-mediated inflammatory diseases following exposure to childhood maltreatment: A retrospective cohort study using UK primary care data.

Background: As a global public health issue, childhood maltreatment is associated with significant morbidity and mortality. We aimed to investigate the association between childhood maltreatment and immune-mediated inflammatory disorders (IMIDs).

Methods: We conducted a retrospective matched open cohort study using a UK primary care database between January 1, 1995 and January 31, 2021.

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need.

Methods: The SD-GCEP applied ClinGen's framework to evaluate the clinical validity of genes associated with rare syndromic disorders. 111 Gene-Disease Relationships (GDRs) associated with 100 genes spanning the clinical spectrum of syndromic disorders were curated.

Establishing an Advocacy Activities Scale for Parents of Individuals With Intellectual and Developmental Disabilities.

Advocacy has long been heralded as a way to create change for individuals with intellectual and developmental disabilities (IDD) and their families. However, without an established measure, it is difficult to accurately characterize advocacy activities. Drawing from extant research, the Advocacy Activities Scale was developed to assess three domains of parent advocacy: advocacy for one's own children, advocacy for other families, and advocacy for systemic change.

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

The first-ever Undiagnosed Hackathon was a groundbreaking event held by the Wilhelm Foundation, the Karolinska Undiagnosed Disease Program, and PhenoTips in collaboration with UDNI to solve medical mysteries and advance diagnostics for undiagnosed rare diseases. Nearly 100 healthcare professionals and researchers from 28 countries participated, working intensively for 48 hours to diagnose 10 families with undiagnosed rare diseases. This innovative approach to precision diagnostics highlighted the power of international, multidisciplinary collaboration and patient partnership, yielding promising results for patients seeking answers and benefiting the entire rare diseases community.