'It Feels Very Weird and Normal at the Same Time': Sibling Perceptions of Their Relationships With an Autistic Brother or Sister With Complex Care Needs.

Background: The impact of having a disabled brother or sister on siblings' psychological well-being and sibling relationships has been the subject of several research studies. However, research which focuses on the relationship between siblings and their autistic brother or sister with an intellectual disability and complex care needs is rare. We explored siblings' views and experiences of their sibling relationship with their autistic brother or sister with complex care needs.

Successful Use of a Midline Catheter for Leukapheresis in Patients Undergoing Collection for Immune Effector Cell Therapy, Donor Lymphocyte Infusion, and Hematopoietic Progenitor Cell Collection.

Apheresis is essential to conducting hematopoietic cell transplantation and genetically engineered cellular therapy procedures. Many patients and donors require central venous catheter (CVC) access for apheresis due to lack of adequate peripheral venous access. CVC placement has risks of associated complications and requires additional institutional resources and expertise.

Mutations to transcription factor MAX allosterically increase DNA selectivity by altering folding and binding pathways.

Understanding how proteins discriminate between preferred and non-preferred ligands ('selectivity') is essential for predicting biological function and a central goal of protein engineering efforts, yet the biophysical mechanisms underpinning selectivity remain poorly understood. Towards this end, we study how variants of the promiscuous transcription factor (TF) MAX (H. sapiens) alter DNA specificity and selectivity, yielding >1700 Ks and >500 rate constants in complex with multiple DNA sequences.

Wellbeing of Family Carers of Adults With Intellectual Disabilities During the COVID-19 Pandemic in the UK: Longitudinal Study.

Background: Longitudinal studies of family carers of people with intellectual disabilities during the COVID-19 pandemic have been very rare. This study investigated trajectories of family-carer wellbeing and the impact of the caring role on carers' health over four time points measured during the COVID-19 pandemic and after all public health restrictions had been lifted (between December 2020 and late 2022) across the United Kingdom.

Methods: Family carers of adults with intellectual disabilities participated through a co-designed, online survey at four time points across the pandemic (2020-2022).

HGVS Nomenclature 2024: improvements to community engagement, usability, and computability.

Background: The Human Genome Variation Society (HGVS) Nomenclature is the global standard for describing and communicating variants in DNA, RNA, and protein sequences in clinical and research genomics. This manuscript details recent updates to the HGVS Nomenclature, highlighting improvements in governance, community engagement, website functionality, and underlying implementation of the standard.

Methods: The HGVS Variant Nomenclature Committee (HVNC) now operates under the Human Genome Organization (HUGO), facilitating broader community feedback and collaboration with related standards organizations.

Programme Recipient and Facilitator Experiences of Positive Family Connections for Families of Children With Intellectual Disabilities and/or Who Are Autistic.

Background: Family members of children with developmental disabilities on average report poorer family functioning and mental health. Positive Family Connections is a co-produced, positively-oriented, family-systems support programme for families of children with developmental disabilities aged 8-13. We investigated experiences of Positive Family Connections, and the processes involved in change.

Teaching Early Reading Skills to Adults With Intellectual Disabilities Using a Support Worker/Family Carer Mediated Online Reading Programme: A Feasibility Randomised Controlled Trial.

Background: There is a paucity of research into interventions that help people with intellectual disabilities learn to read. This feasibility study examines whether an online reading programme, Headsprout, with additional support strategies and supervision (the intervention), can be delivered by support workers/family carers and the feasibility of conducting a later large-scale effectiveness trial.

Methods: The study used a 2-arm randomised controlled trial (RCT) design with an embedded process evaluation using a mixed methods approach.

Emotional literacy programme in special schools for children with a learning disability in England: the ZF-SEND feasibility RCT.

Background: Children with a learning disability experience a range of inequalities and adverse life events that put them at greater risk of mental health problems. The construct of emotional literacy has been shown to be a moderating factor of how life stress affects mental health. Teaching emotional literacy in schools may therefore be an effective way to promote positive mental health.

What Would Have Helped People With Profound Intellectual and Multiple Disabilities in the UK During COVID-19?

People with profound intellectual and multiple disabilities can be excluded from research and relatively little is known about the experiences of people with profound intellectual and multiple disabilities and their carers during COVID-19. This paper aims to further explore the impact on this group via information provided by paid and family carers. It focuses on key areas such as access to social and health services in addition to questions about health and well-being.

Comparison and combination of mutation and methylation-based urine tests for bladder cancer detection.

Background And Aims: Several non-invasive tests for detecting bladder cancer (BC) are commercially available and are based on detecting small panels of BC-associated mutations and/or methylation changes in urine DNA. However, it is not clear which type of biomarker is best, or if a combination of the two is needed. In this study we address this question by taking a 23-gene mutation panel (GALEAS™ Bladder, GB) and testing if adding a panel of methylation markers improves the sensitivity of BC detection.

Behavioural interventions to treat anxiety in adults with autism and moderate to severe intellectual disabilities: the BEAMS-ID feasibility study.

Background: Interventions for anxiety need to be adapted to meet the needs of autistic people with moderate to severe learning disabilities and successfully modelled before evidence about efficacy can be generated from clinical trials.

Objectives: The objectives were to: (1) adapt a behavioural intervention for anxiety, develop an intervention fidelity checklist and logic model, and appraise candidate outcome measures, together with carers, autistic people, and clinicians, (2) characterise treatment-as-usual, (3) model the adapted intervention to determine the acceptability and feasibility for all stakeholders, judge the appropriateness of outcome measures, examine the feasibility and acceptability of consent and associated processes and (4) describe factors that facilitate or challenge intervention delivery.

Design: This study had two phases.

(Not) Going Out and Barriers to Leaving the House for People With Intellectual Disabilities Through the COVID-19 Pandemic in the UK.

Background: People with intellectual disabilities commonly experience multiple barriers to 'going out'.

Aims: This paper explores what barriers prevented people from going out, and if the extent and nature of going out changed over time for people with intellectual disabilities as the COVID-19 pandemic progressed.

Methods: Data are drawn from a wider study that explored, at four time points, the experiences of people with intellectual disabilities through the COVID-19 pandemic in the United Kingdom.

Statistical analysis plan for the SOLUTIONS randomised controlled trial with internal pilot: Solution Focused Brief Therapy (SFBT) in 10-17-year-olds presenting at policy custody.

Background: Within England, children and young people entering police custody are referred to Liaison and Diversion (L&D) teams. These teams liaise with healthcare and other support services aiming to divert children and young people away from the criminal justice system. Although targeted psychological interventions are not typically offered to children and young people by L&D teams, evidence suggests that Solution Focused Brief Therapy (SFBT) leads to a reduction in internalising and externalising behaviour problems.

The influence of therapy quality on outcomes from behavioural activation and guided self-help treatments for depression in adults with intellectual disabilities.

Objectives: We report the effect of quality of therapy delivery on outcomes in a randomized, controlled trial of behavioural activation (BA) and guided self-help (GSH) for depression in adults with intellectual disabilities.

Methods: A study specific measure of quality was used in a linear mixed effect model to determine the effects therapy and therapy quality on therapy outcome.

Results: There was a significant interaction between quality and treatment type, with lower quality therapy associated with better outcome for GSH but poorer outcome for BA, with little difference in outcomes at higher levels of therapy quality.

Behavioural interventions to treat anxiety in adults with autism and moderate to severe intellectual disabilities: The BEAMS-ID feasibility study.

Background: The aim of this feasibility study was to adapt and model a behavioural intervention for anxiety with autistic adults with moderate to severe intellectual disabilities.

Method: Twenty-eight autistic adults with moderate or severe intellectual disabilities, 37 carers, and 40 therapists took part in this single-group non-randomised feasibility study designed to test intervention feasibility and acceptability, outcome measures, and research processes.

Results: The intervention was judged as feasible and acceptable by autistic adults with intellectual disabilities, carers, and therapists.

Enhancing Laryngoscopy Mastery: The Impact of Autonomous Practice with Feedback-Providing Simulators.

Mastery learning with fixed end points and variable training time leads to more consistent expertise but is difficult to implement. Here we piloted mastery learning of laryngoscopy with independent practice. 35 learners participated in independent mastery learning on a manikin that provides automated performance feedback.

Cellular and molecular alterations to muscles and neuromuscular synapses in a mouse model of MEGF10-related myopathy.

Loss-of-function mutations in MEGF10 lead to a rare and understudied neuromuscular disorder known as MEGF10-related myopathy. There are no treatments for the progressive respiratory distress, motor impairment, and structural abnormalities in muscles caused by the loss of MEGF10 function. In this study, we deployed cellular and molecular assays to obtain additional insights about MEGF10-related myopathy in juvenile, young adult, and middle-aged Megf10 knockout (KO) mice.

Serial Postoperative Circulating Tumor DNA Assessment Has Strong Prognostic Value During Long-Term Follow-Up in Patients With Breast Cancer.

Purpose: Here, we report the sensitivity of a personalized, tumor-informed circulating tumor DNA (ctDNA) assay (Signatera) for detection of molecular relapse during long-term follow-up of patients with breast cancer.

Methods: A total of 156 patients with primary breast cancer were monitored clinically for up to 12 years after surgery and adjuvant chemotherapy. Semiannual blood samples were prospectively collected, and analyzed retrospectively to detect residual disease by ultradeep sequencing using ctDNA assays, developed from primary tumor whole-exome sequencing data.

Origin, identity, and function of terminal Schwann cells.

The highly specialized nonmyelinating glial cells present at somatic peripheral nerve endings, known collectively as terminal Schwann cells (TSCs), play critical roles in the development, function and repair of their motor and sensory axon terminals and innervating tissue. Over the past decades, research efforts across various vertebrate species have revealed that while TSCs are a diverse group of cells, they share a number of features among them. In this review, we summarize the state-of-knowledge about each TSC type and explore the opportunities that TSCs provide to treat conditions that afflict peripheral axon terminals.

Psychological wellbeing in parents of children with Down syndrome: A systematic review and meta-analysis.

We report a review examining the psychological wellbeing of parents of children with Down syndrome (DS) relative to that of parents of typically developing (TD) children. A systematic search identified 57 relevant studies, which were synthesised meta-analytically. Relative to their counterparts with TD children, mothers and fathers of children with DS reported higher levels of parenting stress (mothers: g = 0.