Evidence-based decision-making in the treatment of speech, language, and communication disorders in Down syndrome; a scoping review.

This scoping review examined available scientific evidence according to the PRISMA-ScR guideline on the subject of treatment interventions by speech and language therapists of speech, language, and communication needs in people with Down syndrome. A literature search in PubMed, Embase, Cinahl, Cochrane, and Web of Science yielded 41 studies suitable for inclusion. All studies examined the effect of an intervention in speech, language or communicative behaviour, alone or in combination. Most studies were conducted among children, only four were conducted among adults. Twenty-three studies (49%) found statistically significant results. This review may encourage speech and language therapists to incorporate scientific evidence in making their treatment choices. Furthermore, it may inform health care professionals about potential speech and language treatments that can help people with Down syndrome in developing and maintaining their communicative skills. However, future research is needed because little research has been done in this area so far.

Developing research priorities for palliative care in Colombia: a priority setting partnership approach.

BACKGROUND: A recent Lancet commission called for more research on palliative care in low- and middle-income (LMIC) countries such as Colombia. A research priority setting approach has been recommended by The Global Forum for Health Research to address the huge gap in research output between LMIC and high-income countries, with influential health service bodies recommending the active involvement of non-research expert stakeholders in establishing research priorities to address service user needs. METHOD: Priority setting partnership (PSP) following the four stages of the James Lind Alliance methodology; establishing the partnership, identifying evidence uncertainties, refining questions and uncertainties, and prioritization. Data from MS forms were analysed using descriptive statistics. RESULTS: A total of 33 stakeholders attended an online PSP workshop and completed the Mentimeter exercise in Microsoft Teams. A total of 48 attended the subsequent in person prioritisation exercise in urban Bogota (n = 22) and rural Popayan (n = 25). The stakeholders were a diverse group of health professionals (physicians, medical students, nurses, dentists, physiotherapists, nutritionist, occupational and speech therapists), financial and administrative staff and patients with life-limiting illness and caregivers. Top research priorities included patient and caregiver needs, service provider education and training, and better integration of palliative care with cancer and non-cancer services. The key challenges included a lack of interest in palliative care research, along with funding, time and resource constraints. Key solutions included collaboration across disciplines and settings, highlighting benefits of palliative research to help secure adequate resources, and multicentre, mixed method research, with patient involvement from the research development stage. CONCLUSION: The findings of this PSP should be disseminated among palliative care associations worldwide to inform international multicentre studies, and among governmental and nongovernmental organisations that promote research in Colombia. A focus on patient and family caregiver palliative care needs in Colombia should be prioritised.

"You can be cured, but cancer never leaves you behind": an interdisciplinary approach into the embodied cancer experiences among adult Colombian childhood/adolescent cancer survivors.

PURPOSE: Childhood or adolescent cancer survivors (CACS) are an understudied population in Colombia and, in general, in Central and South America. Worldwide, studies typically focus on high-income settings while approaching CACS' experiences from a biomedical or psychological perspective. However, both perspectives miss an important aspect of survivorship after childhood or adolescent cancer: the affected individual's subjective experiences of having a disabled body. This qualitative study aimed to explore the embodied experiences of Colombian adults who survived cancer during their childhood or adolescence to better understand how CACS relate to their altered body and world. METHODS: By integrating phenomenological insights and conducting comprehensive life-story interviews, we explored the various ways in which survivors' cancer experiences affect their bodily sense of self-from the acute phase of the disease until well into adulthood. A total of ten life-stories interviews and one focus group were carried out with seven CACS. All participants were survivors of a different type of childhood/adolescent cancer. The results were analyzed thematically, focusing on the embodied aspects of participants' experiences. RESULTS: We developed three main themes regarding the embodied cancer experience among participating CACS: Firstly, participants' body changes because of the cancer and its treatment, which makes them aware of their body. Secondly, they adapt to this experience in different bodily ways. Finally, they carry bodily traces of their cancer experience in the present as well as into the future. CONCLUSIONS: The CACS participating in this study report that their experience with cancer has been embodied throughout their lives, changing their sense of their body and how they relate to it, and leaving traces into the present and their imagined future.

Validation of the Spanish translation Sheffield Profile for Assessment and Referral for Care (SPARC-Sp) at the Hospital Universitario San Jose of Popayan, Colombia.

OBJECTIVES: We determined the validity and reliability of the Spanish translation Sheffield Profile for Assessment and Referral for Care (SPARC-Sp) questionnaire to identify the palliative care (PC) needs of patients with chronic noncommunicable diseases (NCDs) in Colombia. METHODS: We developed a cross-sectional observational study of scale assessment in adults with the aim of determining the validity and reliability of the SPARC-Sp questionnaire to identify the PC needs of patients with NCDs receiving outpatient or inpatient care at the Hospital Universitario San Jose of Popayan - ESE, Colombia, from 2021 to 2022. RESULTS: We applied a questionnaire consisting of demographic, clinical data, and SPARC-Sp to 507 participants. The constructed model explained 75% of the variance with an adequate fit according to the root mean square residual (0.03), the comparative fit index (0.98), and acceptable reliability (McDonald's total omega 0.4-0.9). Opportunities for improvement are the reformulation and inclusion of particular words to improve the representativeness and clarity of the domains of communication and information, religious, and spiritual issues. SIGNIFICANCE OF RESULTS: This research represents the first validation of SPARC in Spanish. SPARC-Sp is an instrument that allows initiating a conversation of the patient's main needs through a systematic assessment of the patients' main needs. Its psychometric validation demonstrated good fit and acceptable reliability.

Age-period-cohort effects on incidence trends of childhood leukemia from four population-based cancer registries in Colombia.

BACKGROUND: Childhood leukemia (CL) is the most prevalent form of pediatric cancer on a global scale. However, there is a limited understanding of the dynamics of CL incidence in South America, with a specific knowledge gap in Colombia. This study aimed to identify trends in CL incidence and to analyze the effects of age, period, and birth cohort on the risk of leukemia incidence in this population. METHODS: Information on all newly diagnosed leukemia cases (in general and by subtype) among residents aged 0-18 years and living in the serving areas of population-based cancer registries of Cali (2008-2017), Bucaramanga (2000-2017), Manizales (2003-2017), and Pasto (1998-2018). Estimated annual percent changes (EAPC) in incidence over time and potential changes in the slope of these EAPCs were calculated using joinpoint regression models. The effects of age, period, and cohort in CL incidence trends were evaluated using age-period-cohort models addressing the identifiability issue through the application of double differences. RESULTS: A total of 966 childhood leukemia cases were identified. The average standardized incidence rate (ASIR) of leukemia was calculated and expressed per 100,000 person-years - observing ASIR of 4.46 in Cali, 7.27 in Bucaramanga, 3.89 in Manizales and 4.06 in Pasto. Concerning CL trends there were no statistically significant changes in EAPC throughout the different periods, however, when analyzed by leukemia subtype, statistically significant changes were observed in the EAPC for both ALL and AML. Analysis of age-period-cohort models revealed that age-related factors significantly underpin the incidence trends of childhood leukemia in these four Colombian cities. CONCLUSIONS: This study offers valuable insights into the incidence trends of childhood leukemia in four major Colombian cities. The analysis revealed stable overall CL incidence rates across varying periods, predominantly influenced by age-related factors and the absence of cohort and period effects. This information is useful for surveillance and planning purposes for CL diagnosis and treatment in Colombia.

Translation and linguistic validation of the Sheffield Profile for Assessment and Referral for Care (SPARC) to Colombian Spanish.

OBJECTIVES: We aimed to translate and linguistically and cross-culturally validate Sheffield Profile for Assessment and Referral for Care (SPARC) in Spanish for Colombia (SPARC-Sp). METHODS: The linguistic validation of SPARC followed a standard methodology. We conducted focus groups to assess the comprehensibility and feasibility. The acceptability was assessed using a survey study with potential users. RESULTS: The comprehensibility assessment showed that additional adjustments to those made during the translation-back-translation process were required to apply SPARC-Sp in rural and low-schooled populations. It also identified the need for alternative administration mechanisms for illiterate people. The acceptability survey showed that potential users found SPARC-Sp as not only acceptable but also highly desirable. However, they desired to expand the number of items in all domains. SIGNIFICANCE OF RESULTS: Beyond the semantic and conceptual validity attained through the back-translation process, actual cultural validity could be acquired thanks to the comprehensibility tests. Although extending the instrument is something potential users would like to do, it would make it less feasible to utilize the SPARC-Sp in clinical settings. Nonetheless, the instrument might benefit from the inclusion of a domain that evaluates challenges encountered when accessing the health-care system. For communities lacking literacy, alternate administration methods must also be considered.

Burden of non-serious infections during biological use for rheumatoid arthritis.

INTRODUCTION: Biologicals have become a cornerstone in rheumatoid arthritis (RA) treatment. The increased risk of serious infections associated with their use is well-established. Non-serious infections, however, occur more frequently and are associated with a high socioeconomic burden and impact on quality of life but have not received the same attention in the literature to date. The aim of this study was to gain insight into the various non-serious infections reported in RA patients using biologicals and their experienced burden. MATERIALS AND METHODS: The Dutch Biologic Monitor was a prospective observational study that included adults with rheumatoid arthritis and biological use who answered bimonthly questionnaires on the adverse drug reactions (ADRs) they experienced from their biological and reported the associated impact score (ranging from 1, no impact, to 5, very high impact). ADRs were assigned a MedDRA code by pharmacovigilance experts and labeled as definite, probable, possible or no infection by infectious disease professionals. Descriptive statistics were performed using medians and interquartile ranges. RESULTS: A total of 586 patients were included in the final analysis. Eighty-five patients (14.5%) reported a total of 421 ADRs labeled as probable or definite infections by the experts. Patient-assigned burden was ADR-specific. Upper respiratory tract infections were most frequently reported and had a high rate of recurrence or persistence, with a median impact score of 3.0 (IQR 2.0-3.0) which remained stable over time. DISCUSSION: Non-serious infections significantly outnumbered serious infections in this real-life cohort of RA patients using biologicals (77.1 non-serious infections and 1.3 serious infections per 100 patient years, respectively). Infections in the upper respiratory tract were rated as having an average burden, which remained constant over a long period of time. Awareness of the impact of recurrent and chronic non-serious infections may enable healthcare professionals to timely treat and maybe even prevent them, which would lessen the associated personal and socioeconomic burden.

The Human Phenotype Ontology in 2024: phenotypes around the world.

The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs.

Descriptive Epidemiology of Melanoma Diagnosed between 2010 and 2014 in a Colombian Cancer Registry and a Call for Improving Available Data on Melanoma in Latin America.

We aimed to improve the available information on morphology and stage for cutaneous melanoma in the population-based cancer registry of the Bucaramanga Metropolitan Area in Colombia. The incidence and survival rates and the distribution of melanoma patients by age, gender, anatomical subsite, and histological subtype were calculated. All 113 melanoma patients (median age 61) were followed up (median time 7.4 years). This exercise (filling in missing information in the registry by manual search of patient clinical record and other available information) yielded more identified invasive melanomas and cases with complete information on anatomical localization and stage. Age-standardized incidence and mortality rates were 1.86 and 1.08, being slightly higher for males. Most melanomas were localized on the lower limbs, followed by the trunk. For 35% of all melanomas, the morphological subtype remained unknown. Most of the remaining melanomas were nodular and acral lentiginous melanomas. Overall global and relative 5-year survival was 61.6% and 71.3%, respectively, with poorer survival for males than females. Melanomas on the head and neck and unspecified anatomical sites had the worst survival. Patients without stage information in their medical files had excellent survival, unlike patients for whom medical files were no longer available. This study shows the possibility of improving data availability and the importance of good quality population-based data.

Co-Designing a Strategy for Implementing the SPARC Holistic Needs Assessment Tool in the Colombian Clinical Context.

In Colombia, timely access to palliative care (PC) is hampered by difficulties in identifying and referring to necessary services. The SPARC (Sheffield Profile for Assessment and Referral for Care) instrument provides a holistic needs assessment to improve referrals for different forms of care. SPARC was recently validated in Colombian Spanish (SPARC-Sp) but has not yet been implemented in clinical practice. We undertook workshops that aimed to co-design an implementation strategy to inform a future trial testing SPARC-Sp in the Colombian healthcare system. Workshop attendees included patients, informal caregivers, healthcare professionals, volunteers, administrative staff and decision makers. Discussions within the workshops refined implementation and dissemination strategies for SPARC-Sp in practical scenarios. Results include the need for education, clarification and demystification of PC and the lack of time and skills of professionals to identify patients' needs. Attendees recognized SPARC-Sp as a valuable tool for highlighting patients' concerns, whose adaptations are needed in Colombia to address the low literacy of the population and specificities of the healthcare system. We proposed local adaptations to SPARC-Sp and produced five educational videos aimed at health professionals, patients and caregivers to strengthen understanding of holistic needs in PC while building a strategy for SPARC-Sp implementation in the Colombian context.