Solent NHS Trust

Multiple polyposis syndromes include Familial adenomatous polyposis (FAP), Peutz-Jeghers syndrome (PJS), Juvenile polyposis syndrome (JPS), PTEN hamartoma tumor syndrome (PHTS), MUTYH-associated polyposis (MAP), NTHL1-associated polyposis (NAP), Polymerase proofreading-associated polyposis (PPAP), and MBD4-associated polyposis. Common to these syndromes is the presence of polyps in the large intestine and very high risk of developing colorectal cancer (CRC), which can reach up to 100% in the case of FAP. The development of FAP is associated with pathogenic variants of the APC gene. However, pathogenic variants are not always detected in patients with FAP, which poses a significant clinical challenge for both patients and their families, who may be at increased risk for developing the disease. A second strong predisposition to CRC is MAP, characterized by biallelic pathogenic variants in the MUTYH gene, with a phenotype similar to FAP. This mini review focuses on potential approaches to improve the diagnosis of patients in whom pathogenic variants in the APC and MUTYH genes are not detected by routine testing.

Improving meaningful outcomes is the main goal of clinical care for mental disorders. Traditionally, the focus in clinical research and practice has been on outcome domains that refer to symptom severity or service use (e.g., hospitalization), relate to categorical diagnoses, and favour clinician-rated measures. More recently, self-rated and dimensional as well as transdiagnostic outcome domains have gained traction, and functioning, quality of life and well-being/life satisfaction, along with the construct of personal recovery, have become a stronger focus. These key multidimensional outcome domains need to be properly defined and assessed. Further, the concepts of "functional" and "personal" recovery need to be differentiated. "Functional recovery" is defined by observed functioning across the domains of self-care, social interactions, leisure time activities, and educational or vocational activities. "Personal recovery" involves the subjective sense of living a personally meaningful life, irrespective of whether symptoms continue, or ongoing/intermittent support is needed. Despite the multi-stakeholder relevance of these outcome domains, no comprehensive account of how to measure them is available. To fill this gap, we provide here an overview of the main tools to assess functioning, quality of life/well-being/life satisfaction, and personal recovery outcomes across mental disorders in adults, aiming to also identify additional needs that should be addressed. We identified tools that can be used in clinical and research practice to assess people with the following mental health conditions: anxiety disorders, bipolar disorder, dementias, eating disorders, major depressive disorder, obsessive-compulsive and related disorders, personality disorders, post-traumatic stress disorder, schizophrenia, and substance use disorders. Both transdiagnostic and disorder-specific measures are described. Suggested tools were selected keeping feasibility and scalability needs in mind. The incorporation of these measures in both research and clinical care will enrich patient assessment as well as treatment planning and evaluation, increasing the likelihood of enhanced outcomes in people living with mental disorders.

Raynaud syndrome (RS) is a peripheral vasculopathy characterised be impaired acral perfusion typically manifesting as skin discolouration with pallor, cyanosis and/or erythema, and increased sensitivity to cold. RS may be primary or secondary to systemic disease, lifestyle and environmental factors or medication. RS has been reported with medication to treat ADHD, but we found no recent comprehensive overview of the literature. The aim of this review is to evaluate the evidence in the published literature for Raynaud syndrome associated with medication for ADHD. We systematically searched PubMed and Embase from inception to 12 June 2024 for articles published in English describing cases of RS in individuals treated with stimulant medication, atomoxetine, guanfacine or clonidine. Identified cases were assessed against the Naranjo Adverse Drug Reaction Scale criteria to determine the probability of a causal relationship with the medication. The initial search identified 197 articles. A total of 61 cases were identified from 15 case reports, 5 case series, 1 retrospective case-control study, and 1 retrospective cohort study. No randomised, controlled studies were identified. Implicated medications included methylphenidate, (dex)amfetamine and, more rarely, atomoxetine. Most cases were mild and resolved within weeks of discontinuation, dose reduction or switch to an alternative medication. A few cases associated with systemic disease were reported, leading to ulceration, gangrene and the need for amputation or revascularisation in some individuals. Assessment of 28 cases using the Naranjo criteria suggested a 'possible' causative role of ADHD medication in 13 cases, a 'probable' role in 13 cases and a 'definite' role in two cases. Due to the uncontrolled nature of all but one of the available studies, a causal relationship between medication for ADHD and RS could not be determined reliably. However, in view of the possibility of severe sequelae, albeit in rare cases, routine monitoring for signs of RS is recommended in individuals treated with CNS stimulants or atomoxetine, especially when initiating treatment or increasing the dose. Large database studies in which individuals act as their own controls should be conducted to clarify any association between treatment with these medications and RS, controlling for confounding factors.

Young people's usage of digital devices is currently a central topic of interest for researchers, clinicians and the general public, particularly with regards to the impact of social media on adolescents’ mental health. Notably, the duration of screen time is not the primary determinant of mental health outcomes1, 2. Rather, the “quality” of an individual's device usage patterns, experiences and interactions online, and how they correlate with other lifestyle variables (e.g., sedentary time and sleep) appear to matter most1, 3, 4. Other than avoiding the more clear-cut “online harms” (e.g., addictive behaviors, cyberbullying, and online blackmail or exploitation), there is a lack of consensus on how youth can improve the “quality” of their online time. This is in part because the details of what constitutes “healthy” device usage are unclear, and likely differ with regards to sociodemographic factors1. Here we sought to produce a simplified set of recommended actions to promote adolescents’ healthy digital device usage. We assembled a multidisciplinary team of individuals with expertise across child and adolescent mental health, social media research, behavior change interventions, and public health. We then identified and reviewed recently published guideline/recommendation articles, online resources and reports from independent think tanks – particularly those that included feedback from young people themselves. We checked these resources for directly actionable advice, rather than general principles on healthy usage patterns. We then considered the recommended actions from such documents alongside the underlying scientific evidence and the team's experience, in order to put forward the top three tips for healthy device usage in adolescents. We also produced a further set of recommendations for parents who wish to implement such changes in their family units. As digital device usage has been increasing worldwide, the impact on youth mental health has emerged as a central concern. We sought to produce a set of best-practice approaches, on the basis of available evidence and guidelines, for adolescents and their parents looking to improve their device usage patterns. Ultimately, however, managing this issue at a societal level will require a whole system approach, involving partnerships between governments, social media companies, and health care organizations. To propel this, more high-quality research is urgently needed to determine what actions policy makers, clinicians and the public can take, including the perspectives of young people themselves.

BackgroundIt is unknown whether there is a general factor that accounts for the propensity for both physical and mental conditions in different age groups and how it is associated with lifestyle and well-being.MethodsWe analyzed health conditions data from the Millennium Cohort Study (MCS) (age = 17; N = 19,239), the National Child Development Study (NCDS) (age = 44; N = 9293), and the English Longitudinal Study of Ageing (ELSA) (age ≥ 50; N = 7585). The fit of three Confirmatory Factor models was used to select the optimal solution by Comparative Fit Index, Tucker-Lewis Index, and Root Mean Square Error of Approximation. The relationship among d factor, lifestyles, and well-being was further explored.ResultsSupporting the existence of the d factor, the bi-factor model showed the best model fit in 17-year-olds (MCS:CFI = 0.97, TFI = 0.96, RMSEA = 0.01), 44-year-olds (NCDS:CFI = 0.96, TFI = 0.95, RMSEA = 0.02), and 50+ year-olds (ELSA:CFI = 0.97, TFI = 0.96, RMSEA = 0.02). The d factor scores significantly correlated with lifestyle and well-being, suggesting healthier lifestyles were associated with a reduced likelihood of physical and mental health comorbidities, which in turn improved well-being.ConclusionsContrary to the traditional dichotomy between mental and physical conditions, our study showed a general factor underlying the comorbidity across mental and physical diseases, related to lifestyle and well-being. Our results inform the conceptualization of mental and physical illness as well as future research assessing risk and pathways of disease transmission, intervention, and prevention. Our results also provide a strong rationale for a systematic screening for mental disorders in individuals with physical conditions and vice versa, and for integrated services addressing multimorbidity.

Objectives: Randomized controlled trials (RCTs) have shown that attention-deficit/hyperactivity disorder (ADHD) medications significantly reduce symptomatology at a group level, but individual response to ADHD medication is variable. Thus, developing prediction models to stratify treatment according to individual baseline clinicodemographic characteristics is crucial to support clinical practice. A potential valuable source of data to develop accurate prediction models is real-world clinical data extracted from electronic healthcare records (EHRs). Yet, systematic information regarding EHR data on ADHD is lacking. Methods: We conducted a comprehensive review of studies that included EHR reporting data regarding individuals with ADHD, with a specific focus on treatment-related data. Relevant studies were identified from PubMed, Ovid, and Web of Science databases up to February 24, 2024. Results: We identified 103 studies reporting EHR data for individuals with ADHD. Among these, 83 studies provided information on the type of prescribed medication. However, dosage, duration of treatment, and ADHD symptom ratings before and after treatment initiation were only reported by a minority of studies. Conclusion: This review supports the potential use of EHRs to develop treatment response prediction models but emphasizes the need for more comprehensive reporting of treatment-related data, such as changes in ADHD symptom ratings and other possible baseline clinical predictors of treatment response.

Following publication of the original article [1], the authors identified that the names of the contributors were not listed in the EDIFY consortium. This has been corrected since then. The original article [1] has been corrected.

Foot pain can be a significant burden for patients. Custom foot orthoses (CFOs) have been a mainstay in podiatry treatment for foot pain management and improving foot function. However, little is known about podiatrists' experience of prescribing CFOs or patient experience of using foot orthoses (FOs), including CFOs, for foot pain. A focus group (FG) discussion with three FOs users (Female=2 and Male=1) was conducted in November 2022 within a private podiatry practice. This group represented non-experts from the general local population of individuals with existing or previous foot pain who have personally experienced using either over-the-counter FOs or CFOs. An online FG discussion with five musculoskeletal (MSK) specialist podiatrists (Female=2 and Male=3) was also conducted in December 2022. This group represented podiatrists with specialist knowledge in foot biomechanics and clinical experience in CFO provision. The FG discussions were recorded and lasted 49 and 57min respectively. Transcribed data was manually coded, and a thematic analysis was undertaken to identify patterns within the collected data. The participants in the patient FG detailed mixed experiences of the prescription process and CFOs received, with reports of limited involvement/input in their prescription, the need for frequent adjustments and high costs. The impact on footwear choices, replicability and transferability of CFOs into different types of shoes and technologies to aid design were also highlighted. In the podiatrist FG, lack of confidence in design and manufacture processes, prescription form language, relationship and communication building with manufacturers, variability in the CFOs issued and the need for better student education in CFO provision emerged as key themes. Patients and podiatrists shared similar views on CFO provision, namely poorcommunication with manufacturers leading to dissatisfaction with the CFOs prescribed causing negative impacts on patient experiences. Podiatrists called for greater education at registration level to increase new graduate podiatrist knowledge in CFO design and manufacture and better collaboration with manufacturing companies.