This study examined the mental health literacy of perinatal healthcare professionals in the United Arab Emirates (UAE) and analysed how their knowledge, attitudes and confidence impact their clinical practices in addressing perinatal mental health disorders.

A qualitative study with a descriptive phenomenological design. Data were collected via semi-structured individual interviews and focus group discussions. The data were analysed inductively using Braun and Clarke’s six-step thematic analysis.

The study was conducted in Abu Dhabi, Dubai and Al Ain in the UAE. Participants were recruited from various healthcare facilities and professional educational events.

The participants consisted of perinatal healthcare professionals from seven disciplines, including lactation consultants, midwives, nurses, obstetricians, paediatricians, family medicine practitioners and psychiatrists/psychologists. All participants were required to be actively involved in providing care to perinatal patients and to have a minimum of one year of clinical experience. The study included three focus group discussions and 28 semistructured individual interviews, culminating in a sample of 43 participants for analysis.

Three key themes emerged: (1) Knowledge and awareness, highlighting variable understanding of perinatal mental health and reliance on instinct over formal screening; (2) Navigating professional roles and realities, showing empathy and willingness to support patients, yet role ambiguity, low confidence and societal stigma influence perinatal healthcare professionals’ responses and care practices and (3) Strengthening support systems and resources, where participants called for improved training, clear policies and psychosocial resources to overcome institutional and educational gaps and to enhance perinatal mental healthcare and patient outcomes.

The study reveals gaps in mental health literacy and institutional support that hinder the delivery of effective perinatal mental healthcare. Strengthening provider training, implementing standardised screening and referral pathways, and promoting culturally sensitive, multidisciplinary approaches are essential. Such interventions can enhance early detection and improve outcomes for mothers and infants. Further research should focus on developing and evaluating the efficacy of such interventions to enhance early detection and improve outcomes for mothers and infants.

Rare diseases (RD) are collectively common and often genetic. Families value and can benefit from precise molecular diagnoses. Prolonged diagnostic odysseys exacerbate the burden of RD on patients, families and the healthcare system. Genome sequencing (GS) is a near-comprehensive test for genetic RD, but existing care models—where consultation with a medical geneticist is a prerequisite for testing—predate GS and may limit access or delay diagnosis. Evidence is needed to guide the optimal positioning of GS in care pathways. While initiating GS prior to geneticist consultation has been trialled in acute care settings, there are no data to inform the utility of this approach in outpatient care, where most patients with RD seek genetics services. We aim to evaluate the diagnostic yield, time to diagnosis, clinical and personal utility and incremental cost-effectiveness of GS initiated at the time of referral triage (pre-geneticist evaluation) compared with standard of care.

200 paediatric patients referred to one of two large genetics centres in Ontario, Canada, for suspected genetic RD will be randomised into a 1:1 ratio to the intervention (GS first) or standard of care (geneticist first) arm. An unblinded, permuted block randomisation design will be used, stratified within each recruitment site by phenotype and prior genetic testing. The primary outcome measure is time to genetic diagnosis or to cessation of active follow-up. Survival analysis will be used to analyse time-to-event data. Additional measures will include patient-reported and family-reported measures of satisfaction, understanding and perceived test utility, clinician-reported measures of perceived test utility and management impact, and healthcare system utilisation and costs.

This study was approved by Clinical Trials Ontario. Results will be disseminated, at minimum, via peer-reviewed journals, professional conferences and internal reports to funding bodies. Efforts will be made to share aggregated study results with participants and their families.

NCT06935019.

In the Middle East and North Africa (MENA) region, changing demographic and epidemiological profiles have resulted in a diverse and shifting burden of disease (BoD). Disability-adjusted life years (DALYs), which combine years of life lost (YLL) due to premature mortality and years lived with disability (YLD), offer a valuable metric for assessing disease burden at the national level. While global burden of disease (GBD) estimates provide broad insights, national burden of disease (NBD) estimates offer country-specific data that can better inform tailored health policies and resource allocation. This systematic review protocol outlines our methodology for collating and analysing the NBD estimates in the MENA region using DALYs as the primary outcome measure.

This review will adhere to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. We will systematically search PubMed, Scopus, Web of Science and EMBASE for studies published from 1993 to 2024 that report national-level DALY estimates for diseases, injuries or risk factors in MENA countries. Eligible studies must report DALY estimates using national methodologies, while studies using exclusively GBD estimates will be excluded. Two independent reviewers will conduct title/abstract and full-text screening, data extraction and quality assessment using Standardised Reporting of Burden of Disease Studies (STROBOD), with disagreements resolved by a third reviewer when necessary.

Ethical approval is not required for this review as it involves analysis of previously published data. The findings will be disseminated through publication in a peer-reviewed journal and presented at relevant academic and policy forums.

PROSPERO CRD42024498688.

Molar incisor hypomineralisation (MIH) is a qualitative developmental defect of the enamel with a complex, multifactorial nature and a significant genetic component. Individuals with MIH have a compromised stomatognathic system manifested by muscle hyperactivity under postural and dynamic conditions. However, there is a gap in knowledge on the specific functional abnormalities that these individuals experience. Early identification and intervention, with a focus on the prevention of orofacial dysfunctions and deviations in facial growth and development, are aspects of the utmost importance. Therefore, the aim of the proposed study is to perform a comparative analysis of orofacial functions with an emphasis on breathing and chewing patterns in individuals with and without MIH. The secondary objective is to assess whether dentin hypersensitivity and the severity of MIH lesions are associated with alterations in orofacial functions.

Assessments will be performed using the Nordic Orofacial Test-Screening (NOT-S). Descriptive analyses will characterise the sample. The Shapiro-Wilk test will assess normality. For normally distributed data, analysis of variance and Tukey’s post hoc test will be used. For non-normal data, the Mann-Whitney U test will be applied. The 2 test will analyse categorical variables and compare NOT-S domains between groups. Potential confounders (eg, age, sex, socioeconomic status) will be controlled through stratification or as covariates. Logistic and Poisson regressions will model associations for categorical and count-based outcomes, respectively. Statistical significance will be set at p

This protocol has been approved by the Human Research Ethics Committee of Nove de Julho University (certificate number: 83969924.2.0000.5511; approval date: 22 November 2024). Participants will agree to take part in the study by signing an informed consent form. The findings will be published in a peer-reviewed journal. The collected data will be available on request.

NCT06692257.

The COVID-19 pandemic disrupted healthcare delivery for patients with breast cancer. eHealth solutions enable remote care and may improve patient activation, which is defined as having the knowledge, skills and confidence to manage one’s health. Thus, we developed the Breast Cancer Treatment Application (app) for patients and practitioners to use throughout the cancer care continuum. The app facilitates virtual assistance, delivers educational resources, collects patient-reported outcome measures and provides individualised support via volunteer e-coaches. Among newly diagnosed patients with breast cancer, we will compare changes in patient activation, other patient-reported outcomes and health service outcomes over 1 year between those using the app and Fitbit, and those receiving standard care and Fitbit only.

This randomised controlled trial will include 200 patients with breast cancer seen at a tertiary care cancer centre in Ontario, Canada. The intervention group (n=100) will use the app in addition to standard care and Fitbit for 13 months following diagnosis. The control group (n=100) will receive standard care and Fitbit only. Patients will complete questionnaires at enrolment, 6 and 12 months post-diagnosis to measure patient activation (Patient Activation Measure-13 score), distress, anxiety, quality of life and experiences with their care and information received. All patients will also receive Fitbits to measure activity and heart rate. We will also measure wait times and number of visits to ambulatory care services to understand the impact of the app on the use of in-person services.

Ethics approval was obtained on 6 January 2023. Protocol version 2.0 was approved on 6 January 2023. The trial is registered with ClinicalTrials.gov. Study findings will be disseminated via publication in a peer-reviewed journal and shared with participants, patient programmes and cancer awareness groups. The app has also been approved as a secure communication method at our trial institution, thus we are well-positioned to support future integration of the app into standard care through collaboration with our hospital network.

NCT05989477.

Developmental language disorder (DLD) is a common communication disorder that impacts children’s ability to learn, comprehend and use language effectively, yet it remains under-researched, particularly in the Arab countries. This scoping review aims to provide a comprehensive narrative summary on the epidemiology of DLD among children aged ≤10 years in the Arab countries.

A scoping review.

PubMed, Scopus and Web of Science.

We included studies that reported on the prevalence or risk factors of DLD in children aged ≤10 years from any Arab country. Only peer-reviewed publications were considered, and the study populations were required to consist of children without underlying medical conditions known to contribute to language or speech delay.

Two reviewers independently performed abstract and full-text screening and extracted relevant data. The risk factors identified as linked to DLD were grouped into maternal and perinatal factors, factors related to children and family and environmental factors.

From 4832 citations, 17 were deemed eligible and included in this review. The reviewed studies were conducted in only seven Arab countries, with the majority from Egypt (eight studies, 47.1%) and Saudi Arabia (four studies, 23.5%). The reported prevalence of DLD ranged from 3.2% in Egyptian children aged 3–6 years to 25.6% in Saudi Arabian children aged 1–5 years. Among the identified risk factors for DLD were sex, low birth weight, a history of speech and language delay in the family, parental socioeconomic status, perinatal complications, larger family size and early screen exposure.

The reported prevalence of DLD varied across the seven Arab countries. Strategies to address the preventable underlying DLD-associated risk factors are required. There is a clear gap in evidence related to the burden of DLD among children in most of the 22 Arab countries, which warrants further research.

Congenital anomalies (CAs) are significant contributors to perinatal mortality and morbidity. The epidemiology of CAs in the Gulf Cooperation Council (GCC) countries remains insufficiently explored. This scoping review aims to provide a comprehensive overview of the existing literature on the epidemiology of perinatally diagnosed CAs in the GCC countries.

Scoping review.

We searched MEDLINE, Embase, Scopus and Web of Science for articles published between 1 January 2000 and 1 February 2024.

This review included (a) original observational studies such as cross-sectional, cohort or nested case–control studies, which were sourced from general populations, hospital records or registries; (b) published in English between 2000 and 2024; (c) conducted in any of the six GCC countries; and (d) reporting the prevalence or incidence of CAs.

Two reviewers independently screened titles, abstracts and full texts for inclusion and extracted data using Covidence software.

In total, 51 studies reporting the epidemiology of CAs in the GCC countries were eligible and thus summarised. Saudi Arabia dominated with nearly two-thirds of the studies, while Bahrain contributed the least. All studies were hospital based and primarily retrospective. The most researched CAs were cleft lip and cleft palate as well as nervous and circulatory system anomalies, whereas the least researched CAs were chromosomal abnormalities, digestive anomalies and urinary system anomalies. The review reported discrepancies in CA rates across the region, ranging from 2.5 to 68.7 per 1000 live births for multiple anomalies. Few studies explored the association between CAs and risk factors; the main factors reported were advanced maternal age, maternal diabetes and consanguinity.

This review summarises the heightened prevalence of CAs in the GCC countries, discrepancies in estimates and gaps in research on specific anomalies. Future research is warranted to explore the association between CAs and various risk factors, thereby enabling the development of targeted preventive strategies.

Prisons present both unique opportunities and challenges for delivering healthcare to individuals who often experience significant vulnerabilities and often have poor health outcomes. Actions and solutions informed by the health literacy strengths and challenges (ie, health literacy-informed interventions) of people in prison offer an opportunity to build fit-for-purpose and effective interventions in this unique context. This study aims to adapt and apply the three-phase Optimising Health Literacy and Access (Ophelia) process in a state-wide prison context to generate codesigned improvements in information, resources and services for people in prison.

Health Literacy Questionnaire data from 471 people in prison will be analysed using descriptive and cluster analyses (Ophelia Phase 1). Clusters, with qualitative interview data, will then inform vignette development for use in ideas generation workshops and yarning circles with stakeholders to develop health literacy-informed interventions. Selection, prioritisation and testing of identified interventions will be undertaken (Phase 2), followed by implementation and evaluation (Phase 3). This project will advance intervention development in the prison context, enabling the voice of people in prison and service providers to be heard through codesign. The protocol will inform the development and implementation of interventions to systematically improve the delivery of information, services and resources for people in prison, which may be relevant to prison healthcare authorities globally.

Ethical approval to undertake Phase 1 of the Ophelia process has been granted from the following Human Research Ethics Committees: Swinburne University of Technology (Ref: 20236977–15461), Justice Health NSW (Ref: 2022/ETH01433), Aboriginal Health and Medical Research Council (Ref: 2007/22) and the Corrective Services Ethics Committee (Ref: D2022/1452326). Dissemination of the study findings will be the Justice Health NSW codesign process and ownership of the project through authentic engagement with people with lived experience and health and corrective staff. It will also be disseminated through publication in a PhD thesis, peer-reviewed research papers and conference presentations.