Highlights of the BMC Series – November 2023

Can telehealth help to reliably diagnose autism spectrum disorder in children? How does climate change impact the habitat and conservation efforts of geladas? What do genomes of ancient populations teach us about genetic traits, relatedness, and demographic history? What are the global impacts and contributors to unprofessional behavior among healthcare staff? How can we predict the impact of nicotine vaping in individual countries?

BMC Digital Health – A novel telehealth tool using a snack activity to identify autism spectrum disorder

© Lori Werhane / Fotolia

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that affects more than one in 100 people worldwide. ASD can be reliably diagnosed by the age of 2 years, but developmental screenings are expensive and not readily available for low- and middle-income economies. Since early detection is crucial for timely interventions and support, there is a need to find more cost-effective screening methods to assist under-resourced primary health care settings.

A new study published in BMC Digital Health introduces a time- and cost-efficient telehealth approach to detect behavioral differences between children with ASD and typically developing (TD) children using snack time activities. In this study, children aged 1-6 years, previously diagnosed with ASD, and TD children were filmed for one minute during structured snack time activities. Three clinical experts identified 17 ASD-related behaviors covering social interaction, communication, and restricted and repetitive behaviors. These were then further converted into 62 behavior indicators (e.g., counts, duration, rate) and translated into a behavior coding system.

Using this easy and cost-effective method, trained examiners were able to identify distinct behavioral differences between children with ASD and TD children. These included eye gaze, pointing, facial expressions, vocalization, verbalization, and giving behaviors. A clinical prediction model further confirmed the method’s ability to predict ASD with a sensitivity of 92.5% and specificity of 86.6%. While acknowledging the study’s limitations due to a relatively small sample size, the authors assert that their newly developed telehealth tool shows great promise for diagnosing ASD in primary health care settings in an easy, reliable, and cost-effective manner.


BMC Ecology and Evolution – Potential changes in the extent of suitable habitats for geladas (Theropithecus gelada) in the Anthropocene

@ Ahmed et al. 2023

Biodiversity loss is one of the is the most pressing issues the world is currently facing. According to the WWF’s Living Planet Report 2022, 69% of global wildlife populations have disappeared since 1970.  Human land use for food production is still the major driver of biodiversity loss, but climate change and rising temperatures play an increasingly significant role as well. Elevated temperatures change the availability and distribution of existing ecosystems, often forcing animals and plants to move to higher latitudes, where they further disrupt existing ecosystems. It is, therefore, crucial to take climate change into consideration when planning species conservation and management efforts.

In a study recently published in BMC Ecology and Evolution, researchers used species distribution models to predict the future extent of suitable habitats for geladas in the Ethiopian highlands. These high-altitude primates are extremely range-restricted and already in decline due to human disturbances. By comparing historic occurrence data collected after 1999 and considering a total of 13 environmental factors (e.g., climate change, land cover, and slope) the authors were able to create a model to predict where geladas might live under 2050 and 2070 climate change scenarios.

Their model revealed that, over the past two decades, geladas had already shifted to higher elevations as a response to agricultural expansion and significant anthropogenic pressures. It further confirmed that the geladas were highly vulnerable to global climate change and would lose a significant part of their current habitat. Factors like temperature, precipitation, and slope were most influential when shaping these projections. The authors concluded that taking predicted future habitat outlines into account to create protected areas would be crucial when planning conservation efforts for this species. In addition, given that geladas are already living in areas that are less ideal for them, protecting their current habitats is important, even if they will become unsuitable in the future.


BMC GenomicsSNP heterozygosity, relatedness and inbreeding of whole genomes from the isolated population of the Faroe Islands

© valentyn640 / stock.adobe.com

The Faroe Islands, located in the North Atlantic Ocean, constitute an archipelago that operates as a self-governing territory within the Kingdom of Denmark. Many Faroese are descendants of Norwegian Vikings, who colonized the islands about 1200 years ago. Because of the remote nature of the islands, the population has remained relatively isolated, and genetic inbreeding has resulted in a high incidence of recessive allele disorders, such as the very rare Primary Carnitine Deficiency (PCD). Over the past decade, several nationwide screening programmes using whole genome and exome sequencing were initiated to better understand the occurrence of PCD and other rare diseases in the Faroese population.

A study in BMC Genomics used high-coverage data to explore the genomic variation and demographic history of the Faroese population. The analysis of single nucleotide polymorphisms (SNPs) from eight unrelated Faroese genomes, alongside runs of homozygosity (ROHs), minor allele frequency (MAF), and population structure, revealed intriguing differences. While all eight participants were deemed unrelated, a level of relatedness akin to sibling or parent-offspring pairs was detected. However, a closer look at ROHs suggested this relatedness had ancient origins. The study also revealed a bottleneck and inbreeding event, starting between the 1st and 4th century and peaking around the 6th century—about 2-3 centuries earlier than previously thought based on archaeological evidence.

While the sample size of this study was relatively small, the author is confident that most modern Faroese are likely descendants of primarily European farmers (<99%) with a minor influence of Admixed Americans (>1%). Due to the relative isolation of the islands, inbreeding remained high, providing an opportunity to study ancient communities through the modern Faroese population.

Read more about their work in a blog by the author: Whole genomes from the population of the Faroe Islands


BMC Health Service ResearchDrivers of unprofessional behaviour between staff in acute care hospitals: a realist review

© Courtney Haas / peopleimages.com

Unprofessional behaviors (UB) among healthcare staff represents a global problem, with a negative impact on staff well-being and patient safety. UB can be defined as “any interpersonal behavior by a staff member that acutely or frequently undermines, humiliates, intimidates, or drives distress or harm to other staff, in the healthcare workplace” and includes incivility, microaggressions, harassment, and bullying. While rates of UB vary worldwide, data consistently show that women, individuals with disabilities, and those from ethnic minority backgrounds experience UB to a greater extent.

A new study published in BMC Health Service Research explores the contributors and drivers of UB in healthcare, to better understand how and why UB develops and how it negatively impacts staff and patient care. A systematic database search with data extracted from 109 reports found that UB can lead to adverse outcomes such as loss of self-worth, burnout, desire to leave the workplace, and even suicidal ideation. Minoritized groups were indeed more severely impacted. Furthermore, UB was linked to distraction, lower confidence, reduced capacity to speak up about errors, and ultimately affecting patient safety and care quality.

The authors conclude that dysfunctional workplace processes, toxic cultures, disempowerment, inhibited social cohesion, and manager unawareness were the main contributors to UBs. Understanding where UBs are arising and improving workplace culture are essential in eliminating UBs and avoiding negative impacts on communication, concentration, and the ability to speak up about errors. Further research is needed to understand why certain demographics (e.g., female staff, minorities, individuals with disabilities) are particularly susceptible to UB.


BMC Public HealthThe smoking and vaping model, A user-friendly model for examining the country-specific impact of nicotine VAPING product use: application to Germany

© Wlodzimierz / stock.adobe.com

The use of Nicotine Vaping Products (NVPs) or e-cigarettes are considered a less harmful alternative to traditional cigarettes and are often used to quit smoking. However, concerns exist, especially regarding their use among young people. NVPs can serve as gateways for those who would not have otherwise smoked or those who previously quit smoking conventional cigarettes and start again because they see NVPs as a healthy alternative. A previously published study introduced the so-called Smoking and Vaping Model (SAVM) – a tool to assess the potential harm-reducing or harm-increasing effects of NVPs on the American population.

A recent study published in BMC Public Health tested the SAVM on the German population, where the use of NVPs is demonstrably increasing. The authors built the adapted model using three publicly available databases (WHO, United Nations, and GEDA). They compared two different scenarios (No-NVP and NVP) to estimate the public health impact in terms of smoking-attributable deaths (SADs) and smoking-and-vaping-attributable deaths, as well as life years lost (LYLs). Assuming that the excess NVP mortality risk is 5% that of smoking, the model estimated a reduction of 4.7 million LYL and almost 300,000 deaths due to NVP use.

The authors acknowledge that, since data on tobacco use in Germany may be incomplete and information on the long-term effects of NVPs on public health is lacking, these results should be interpreted with caution. Despite these pitfalls, the SAVM is considered valuable as it was specifically designed to be accessible to non-experts. It will help policymakers, researchers, and other stakeholders understand the impact of NVPs on public health and guide tobacco control efforts, especially in countries like Germany, which are currently undergoing changes in tobacco regulations.

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