bluuebunny/crossref_metadata_2025_split huggingface dataset:
Late-Onset Tay-Sachs Disease With a Predominantly Neuropsychiatric Presentation: Case Report and Literature Review
Authors: Yortston Graeme , Ain Awan Noor Ul , Aref Mahmoud , Thirumalai Srinivasa 
Published: August 2024

AimsBackground: Late-onset Tay-Sachs disease (LOTS) is an autosomal recessive lysosomal storage disease due to a variety of mutations in the hexosaminidase-A gene which leads to accumulation of GM2 ganglioside in the brain. It typically presents in late adolescence with a slowly progressive spectrum of neurologic symptoms including lower-extremity weakness with muscle atrophy, dysarthria, incoordination, tremor and mild spasticity and/or dystonia. Psychiatric symptoms including mood disorder, psychosis and neurocognitive symptoms occur in around 50% of cases but are rarely the presenting feature.MethodsCase Report: Patient X is a 35 year old man of Irish descent currently detained in an independent hospital locked rehabilitation unit following the breakdown of a care home placement. He first presented to mental health services at the age of 17 with psychomotor agitation, rapidly changeable moods, manic-like symptoms and sexual disinhibition. He was diagnosed with schizoaffective disorder, attention deficit hyperactivity disorder and Asperger's syndrome and he had several compulsory hospital admissions over the next five years before a prolonged period of rehabilitation and discharge to a residential home for people with autistic spectrum disorders. However, he continued to exhibit disruptive behaviour, often triggered by periods of insomnia and had further hospital admissions. When he was 31 his brother was diagnosed with LOTS and this led to him being tested and found to have the same mutation.ResultsDiscussion: There had been no suspicion of a neuropsychiatric disorder prior to the diagnosis of the patient's brother with LOTS and he was treated with conventional psychotropic medication with limited success. However, when the case records were obtained from his first hospital admission there was evidence of dysarthria although the significance of this was not appreciated. With hindsight many of his other symptoms can be seen as indicative of a neuropsychiatric disorder.ConclusionIt is important to take a family history and consider a neuropsychiatric condition in families with multiple affected individuals. There are as yet no specific treatments for LOTS, and management is aimed at symptom reduction and enhancing quality of life, but a number of disease modifying strategies are being investigated including enzyme replacement therapy, pharmaceutical chaperone therapy, substrate reduction therapy, gene therapy, and hematopoietic stem cell replacement therapy, making it even more important the condition is recognized early.
Choices Today, Behaviours Tomorrow: Longitudinal Associations Between Childhood Risky Decision-making and Adolescent Conduct Disorder Behaviours – a Nationally Representative Prospective Cohort Study in the United Kingdom
Authors: Cheung Christy , Lewis Gemma , Lewis Glyn , Srinivasan Ramya 
Published: August 2024

AimsConduct disorder carries significant individual and societal repercussions. Despite heightened risk-taking and challenges in adapting to changing probabilities of choice outcomes being linked to maladaptive behaviours such as conduct disorder, no study to date has examined the association behind childhood decision-making and adolescent conduct disorder. This study seeks to address this gap by exploring the longitudinal association between these two variables. Understanding the mechanisms underlying conduct disorder could help with developing new preventive interventions.MethodsWe used data from the Millennium Cohort Study, a nationally representative UK cohort; participants included those with complete data on exposure, outcome and confounding variables (n = 7,237). The exposure, childhood decision-making at 11 years was measured using the Cambridge Gambling Task risk-taking and risk-adjustment measures. The outcome, a binary measure of adolescent conduct disorder was created using items from the risky and antisocial behaviour interview sections at age 17. We used logistic regression to examine the association between childhood decision-making and adolescent conduct disorder and adjusted for relevant confounders.ResultsThe univariable model showed that at age 11, each 20-point increase in risk-taking score increased the odds of conduct disorder behaviour at age 17 by 32% (OR = 1.32, 95% CI 1.18–1.44, p < 0.0001). In the multivariable model, there was strong evidence that a 20-point increase in risk-taking at 11 years was associated with 18% higher odds of conduct disorder behaviour at 17 years (OR = 1.18, 95% CI 1.05–1.33, p = 0.005). There was no evidence that this association differed by sex. Risk adjustment at 11 years showed no association with conduct disorder behaviours at age 17 both in the univariable model (OR = 0.96, 95% CI 0.88–1.06, p = 0.440) and the multivariable model (OR = 0.96, 95% CI 0.88–1.06, p = 0.433).ConclusionWe found that risk-taking at 11 years was associated with conduct disorder behaviour at 17 years. If causal, our findings suggest that risk-taking might be a potential mechanism underlying adolescent conduct disorder behaviours. This may be useful in informing the design of preventive strategies, such as encouraging positive risk-taking in children and discouraging negative risk-taking behaviours.
A Systematic Review of the Financial Impact of Living as an Autistic Person in the UK
Authors: Bowley Mary , Jordan Mary 
Published: August 2024

AimsBeing an autistic person in the United Kingdom (UK) is associated with a range of costs. This study reviews published literature which estimates the cost of living as an autistic person in the UK.MethodsA systematic review of published peer-reviewed studies was undertaken. Search criteria included papers which were published after 2008, looked exclusively at costs of living as an autistic person in the UK and discussed quantitative data. Papers recovered during the literature search were screened by title and abstract independently by two reviewers. Papers included in the final review were critically appraised using the Critical Appraisal Skills Program (CASP) checklist. Four papers were selected for inclusion in this study. Following data extraction, results were compared in a narrative synthesis across six key domains defined in previous literature: Caregiver costs, Loss of productivity, Healthcare costs, Education costs, Accommodation costs, Therapeutic costs. During the data extraction process, analysis of cost inclusion criteria, data collection methods and cohort characteristics was conducted.ResultsAcross the literature the following findings emerged: Costs for autistic people with co-occurring intellectual disability (ID) are higher per year than for those without a co-occurring ID. Costs of care vary with age, with different cost categories peaking at different points in a person's life. Loss of productivity is one of the greatest costs, with education and accommodation costs also proving significant. Data looking at a wide range of expenses however do not determine whether expenses are paid by the individual or by the Government. There is a lack of data regarding financial income, whether sourced from employment or government support, such as Personal Independent Payments or Universal Credit. A lack of consistency regarding cost inclusion criteria and differences in data collection methods severely limit direct comparison of outcomes across the literature.ConclusionLack of consistency in the measurement of cost components and defined cohort characteristics makes comparison across the literature challenging, comparison cannot inform any meaningful economic evaluation. Despite this, the overarching theme across all studies in this review is that current service expenditure is higher for autistic people than non-autistic people. This is particularly clear when discussing accommodation, healthcare and costs due to loss of productivity. Both age and co-occurring conditions have an impact on overall cost. These findings form a strong basis for future research in this area to standardise cost calculations across specified age ranges and evaluate current government-centered financial support available to autistic people.
Investigating History of Suicidal Ideation Among Patients Attending Early Intervention for Psychosis Services: A Retrospective Analysis Using Clinical Records
Authors: Mongan David , Quattrone Diego , Kelleher Ian , Cannon Mary , Cotter David 
Published: August 2024

AimsPrevious population-based studies have identified suicidal ideation (SI) as a potential risk marker for psychosis. We aimed to investigate the prevalence of previous SI in a large sample of patients with first episode of psychosis accepted to early intervention services (EIS) in South London and Maudsley (SLaM) NHS Foundation Trust using clinical records. We further aimed to investigate differences in patients with and without recorded SI according to age at diagnosis, gender, ethnicity and neighbourhood deprivation.MethodsWe designed a retrospective cohort using the Clinical Record Interactive System. Included were patients who were accepted by SLaM EIS from 2015–2018 and received a psychotic disorder diagnosis (n = 1658). We used a natural language processing algorithm that searches deidentified textual clinical records, returning a binary variable indicating presence or absence of SI recorded at any time prior to acceptance to EIS. The algorithm has high precision (97%) and inter-rater reliability (Cohen's k 92%). The t-test was used to compare mean age at first diagnosis in patients with and without recorded SI, while chi-squared tests evaluated differences according to gender, ethnicity and tertiles of index of multiple deprivation (based on 2015 postcode). The significance threshold was p = 0.05.ResultsThe cohort included 1658 patients, of whom 656 (39.6%) were female. The natural language processing algorithm identified 600 patients (36.2%) who had SI recorded in their clinical records at any time prior to acceptance by EIS. On average, patients with recorded SI were younger at first diagnosis of psychotic disorder (mean 27.7 years, standard deviation 10.5) compared with patients without recorded SI (mean 30.1 years, standard deviation 11.2; p < 0.001). There was little evidence for differences on gender (p = 0.950), ethnicity (p = 0.059) or deprivation index (p = 0.597).ConclusionApproximately 1 in 3 patients attending SLaM EIS had evidence of SI recorded prior to acceptance by EIS. Consistent with previous studies, the current findings emphasise the high prevalence of SI in this clinical population. Compared with those without SI, patients with recorded SI were on average 2–3 years younger at diagnosis. This may reflect general population age differences in prevalence of suicidal ideation; increased severity of illness with earlier age of onset; or patterns of contact with services which facilitated earlier diagnosis. There was little evidence that patients with and without recorded SI differed significantly on gender, ethnicity or neighbourhood deprivation. Prospective studies would be helpful to assess whether SI is a risk marker for first episode of psychosis.
Development of an Integrated Electronic Platform for ADHD Medication Initiation in Child and Adolescent Mental Health Services
Authors: Stanton Noah , Iqbal Hamzah , Bailey Sandra , Morganstein Louise , Jakhra Salim 
Published: August 2024

AimsChildren and young people (CYP) with attention deficit hyperactive disorder (ADHD) under Brent Child and Adolescent Mental Health Services (CAMHS) experience long waiting times before treatment with medication is initiated: on average 3 months. Therefore, the aims were firstly, to create an electronic platform (e-platform) to educate parents about ADHD medication and facilitate its initiation in Brent CAMHS. The e-platform replaced the previous method of medication initiation which was typically delivered to a group over Zoom. Secondly, to reduce time-to-treatment initiation (TTI) by January 2024. Thirdly, to increase the proportion of patients with ADHD who were initiated on medication (when appropriate) by the same date.MethodsThe content from neurodevelopmental clinicians counselling parents about ADHD medication was transcribed. Individual transcripts were collated into a master transcript to standardise the information delivered to parents. Medication initiation psychoeducation videos were created using the master transcript and a videographer and editor, in collaboration with the Trust's Director of Communications and Web Development Team. The videos were integrated electronically with a question-and-answer section, a useful websites section and a medication decision section to construct an e-platform, which was embedded in the Brent CAMHS website.Following the QI model-of-improvement, objective clinical measures included TTI, the proportion of CYP initiated on medication, and total clinical and administrative time saved. User-reported outcomes were measured using a pre- and post-intervention questionnaire combining Likert scale and free-response items.ResultsTTI reduced by 37% from 92 days (Zoom) to 58 days (e-platform). The proportion of CYP initiated on medication increased from 64% (Zoom) to 72% (e-platform). Over a 2-month period, 9 hours of clinician time was saved. Based on 20 respondents, overall user satisfaction increased from 4.13/5 (Zoom) to 4.71/5 (e-platform). Qualitative feedback revealed that users found the e-platform ‘easy to understand’, ‘easy to access, quick and useful’ and ‘provided clear explanations’.ConclusionThe results indicate the positive impact of the e-platform initiative which can be derived from both clinical and user-reported outcomes. By integrating standardized educational content, user-friendly features and streamlined processes, the e-platform empowers parents with knowledge, enhances communication between families and the neurodevelopmental team, and ultimately expedites ADHD medication initiation and saves clinical time. Regional spread has commenced, and the authors are engaged in discussions with other CAMHS to facilitate this further.
Introducing Step-Down Summaries to the Intensive Psychiatric Care Unit
Authors: Mahony Ewan , Johnston Zoe 
Published: August 2024

AimsThe intensive psychiatric care unit (IPCU) is a 10-bedded unit which houses some of the most unwell psychiatric inpatients, generally those with psychosis and mania who require enhanced care and restriction. Admissions can be long and involve high levels of clinical complexity. This project identified the need for clear communication at the point of discharge with regards to rationale for decision making, mental health act status, risk and outstanding issues. The aim was to develop and test a tool for communicating this: the step-down summary.MethodsThree plan, do, study, act cycles were run. The first involved creating a draft proforma and testing this with 3 complex patients, gathering qualitative feedback from receiving clinicians. The proforma was then improved and a full-scale trial including all patients with stays of 2 weeks or more was conducted, a total of 18 patients. Data were collated on the timing of summary completion and further improvements to the proforma were made based on consultant feedback. Finally, a third cycle was run to establish whether the new process was sustainable between rotating trainees.ResultsInitial feedback was positive with clinicians highlighting that the summaries saved time reading extensive notes, clearly identified outstanding tasks, and helped with final discharge document writing. It became clear that there was a need to agree a cut-off time of how long a patient should be in IPCU to merit a stepdown summary. Of the 18 patients who met this cut-off in the 2nd cycle all had a stepdown summary at the point of transfer with 89% of these fully complete before their next clinical review. During the 3rd cycle, there were 19 relevant patients only one of whom did not have a summary, due to their transfer coinciding with trainee leave. Feedback remained positive, highlighting that the summaries avoided duplication of work.ConclusionOverall, the use of stepdown summaries proved useful to receiving clinicians in both communicating important information and in saving further time when later creating final discharge documents. It was sustainable between trainees, however there remained an issue with these not being produced during trainee leave. It may be useful to consider alternate clinicians who can support with the production of summaries to minimise this as well as measuring more clear clinical outcomes, such as the repetition of investigations. This would support an expansion to other UK IPCUs.
Factors Affecting Colorectal Cancer Screening in Primary Care Physician Practices in Ukraine
Authors: Dzhemiliev Ali , Kizub Darya , Wanis Kerollos Nashat , Allar Benjamin G. , Vus Vadym , Malovanna Anna , Huivaniuk Inesa , Kopetskyi Viacheslav , Beznosenko Andriy , Shabat Galyna , Antoniv Marta , Suprun Ulana , Melnitchouk Nelya 
Published: August 2024

PURPOSE This study aims to identify the factors influencing colorectal cancer (CRC) screening practices, along with the barriers and facilitators from the perspective of primary care physicians (PCPs) in Ukraine. Considering health care system challenges, including those posed by the ongoing war, this research seeks to inform improvements in CRC screening and outcomes in Ukraine and other low- and middle-income countries (LMICs). METHODS A survey was designed and distributed electronically to Ukrainian PCPs, focusing on CRC screening practices, beliefs, and barriers. The survey incorporated questions adapted from established cancer screening surveys and frameworks. Complete responses were collected from 740 PCPs. Sample statistics were computed, and population-level perceptions and associations with CRC screening practices were estimated by standardizing responses to national PCP demographics. RESULTS The majority of respondents were women (91%) and specialized in family medicine (84%). Respondents believed in the effectiveness of colonoscopy for reducing CRC mortality (80%), with 75% of PCPs referring patients for this screening modality. Major barriers identified include inadequate training of PCPs in screening and lack of resources. Respondents reported high utilization of fecal occult blood test and colonoscopy for screening when these tests were said to be available in their practices. Self-reported familiarity with CRC screening guidelines and participation in educational workshops were positively associated with screening referrals. CONCLUSION The study highlights the role of access to CRC screening tests and awareness of screening guidelines in enhancing CRC screening practices among Ukrainian PCPs. Addressing training and resource barriers, alongside public health interventions targeting patient-related barriers, is essential. These findings offer valuable insights for LMICs facing similar challenges, emphasizing the need for tailored strategies to improve cancer screening in these health care settings.
Germline Susceptibility to Renal Cell Carcinoma and Implications for Genetic Screening
Authors: Glennon Kate I. , Endo Mikiko , Usui Yoshiaki , Iwasaki Yusuke , Breau Rodney H. , Kapoor Anil , Lathrop Mark , Tanguay Simon , Momozawa Yukihide , Riazalhosseini Yasser 
Published: August 2024

PURPOSE Genetic susceptibility to nonsyndromic renal cell carcinoma (RCC) remains poorly understood, especially for different histological subtypes, as does variations in genetic predisposition in different populations. The objectives of this study were to identify risk genes for RCC in the Canadian population, investigate their clinical significance, and evaluate variations in germline pathogenic variants (PVs) among patients with RCC across the globe. MATERIALS AND METHODS We conducted targeted sequencing of 19 RCC-related and 27 cancer predisposition genes for 960 patients with RCC from Canada and identified genes enriched in rare germline PVs in RCC compared with cancer-free controls. We combined our results with those reported for patients from Japan, the United Kingdom, and the United States to investigate PV variations in different populations. Furthermore, we evaluated the performance of referral criteria for genetic screening for including patients with rare PVs. RESULTS We identified 39 germline PVs in 56 patients (5.8%) from the Canadian cohort. Compared with cancer-free controls, PVs in CHEK2 (odds ratio [OR], 4.8 [95% CI, 2.7 to 7.9], P = 3.94 × 10−5) and ATM (OR, 4.5 [95% CI, 2.0 to 8.7], P = .016) were significantly enriched in patients with clear cell, whereas PVs in FH (OR, 215.1 [95% CI, 64.4 to 597.8], P = 6.14 × 10−9) were enriched in patients with non-clear cell RCCs. PVs in BRCA1, BRCA2, and ATM were associated with metastasis ( P = .003). Comparative analyses showed an enrichment of TP53 PVs in patients from Japan, of CHEK2 and ATM in patients from Canada, the United States and the United Kingdom, and of FH and BAP1 in the United States. CONCLUSION CHEK2, ATM, and FH are risk genes for RCC in the Canadian population, whereas PVs in BRCA1/ 2 and ATM are associated with risk of metastasis. Globally, clinical guidelines for genetic screening in RCC fail to include more than 70% of patients with rare germline PVs.
Is There an Association Between Endometriosis, Early Menopause, and Cardiovascular Disease?
Authors: Younis Johnny S , Taylor Hugh S 
Published: August 2024

Abstract
Large-scale studies show endometriosis linked to earlier menopause onset. Recent research targeting women with laparoscopically diagnosed endometriosis found an increase in cases of early natural menopause. Furthermore, recent large-scale cohort studies have found a correlation between endometriosis and an increased risk of cardiovascular disease (CVD). Understanding the causality of early menopause, particularly natural menopause, and cardiovascular risks in women with endometriosis could help medical professionals develop effective strategies for early prevention and new therapies. Endometriosis, early menopause, and cardiovascular risks may be linked by primary or secondary mechanisms. Primary mechanisms involve shared pathways that can lead to all morbidities, while secondary occur due to delayed consequences of management strategies. In these large-scale cohort studies, relevant risk and confounding factors, such as oophorectomy, were considered to refine estimates of associations. However, none of the studies considered endometriotic cystectomy, a globally accepted treatment for endometriosis-associated pelvic pain and infertility, as a mediating factor. There is substantial evidence to indicate that endometriotic cystectomy harms ovarian reserve and may lead to early menopause in cases of multiple surgeries or bilateral cases. Early menopause is a well-established risk factor for CVD. To thoroughly examine the link between endometriosis and early menopause, particularly natural menopause, and their connection with cardiovascular risks, it is imperative to consider all the possible factors that may affect the results, such as endometriotic cystectomy. This will enable us to obtain the most accurate and adjusted hazard ratio.