Search Results (66)

Background: Siblings of children with autism spectrum disorder (ASD) are considered biologically at risk of developing neurodevelopmental disorders (NDDs) that may involve sensorimotor, adaptive, and social–communication domains. Previous studies have highlighted the potential value of early intervention programs during the first year of life, when symptoms may not yet be evident. This study explores the impact of pre-emptive and early interventions on the developmental trajectories of infants at risk for NDDs. Methods: This case-series study included four children (one at low risk and three at high risk) who participated in the ERI-SIBS Project (Early Recognition and Intervention in Siblings at High Risk for Neurodevelopmental Disorders), an ongoing, innovative, and ecological early recognition and intervention program for siblings of children with ASD. Intervention frequency was personalized based on the presence or absence of early risk indicators and continued for six months. Data on global functioning, social-communication abilities, and mother–child interactions were collected over one year. Results: Qualitative analysis revealed four distinct developmental trajectories and treatment responses, emphasizing the need for a multidimensional approach and the active engagement of parents in the intervention process. Conclusions: Findings from this case series provide an in-depth understanding of how biological and environmental factors may interact to influence the outcomes of early interventions in children at risk for NDDs. These results underscore the importance of early, individualized, and family-centered approaches to support optimal developmental outcomes. Full article

Malaria, caused by a protozoan parasite of the genus Plasmodium and transmitted by mosquitoes of the genus Anopheles, remains a significant vector-borne disease worldwide. In 2018, Paraguay became the first country in the Americas in 45 years to be certified malaria-free by the World Health Organization. Between 2016 and 2017, a period with no reported human malaria cases, the presence of Plasmodium spp. in Anopheles mosquitoes was investigated in the departments of Caaguazú and Alto Paraná. These studies found that the most prevalent Anopheles species in Paraguay, including Anopheles albitarsis (59.4%), Anopheles strodei (21.5%), and other Anopheles species in smaller proportions, were all negative to the parasite. The objective of this study was to re-evaluate these presence data and to define environmentally suitable areas for Anopheles spp. and their association with bioclimatic variables using DIVA-GIS/MaxEnt software for the entomological surveillance of malaria risk in Paraguay. Results showed that areas of bioclimatic suitability included the Humid Chaco, Cerrado, Paraná Atlantic Forest, and Southern Cone Mesopotamian savanna ecoregions. The most relevant climatic variables were the precipitation of the wettest month (contribution of 80.4%) and the precipitation of the driest month (contribution of 18.4%). Anopheles albitarsis, also reported as a vector of the Venezuelan equine encephalitis virus in neighbouring countries, was the most abundant mosquito species. Anopheles darlingi, the main vector of malaria in Paraguay, was not found. However, species richness indices (Chao/ACE) suggest that cryptic or sibling species may be present. Finally, the possible succession of Anopheles species and their geographical segregation are discussed in scenarios of entomological surveillance and epidemiological risk. Full article

Objectives: Kangaroo care is vital for the development of premature and low-birthweight infants. However, detailed data on skin-to-skin times, especially for extremely preterm infants in NICUs, is lacking. This study quantifies skin-to-skin times for these infants at the neonatology department in Salzburg, considering factors like the COVID-19 pandemic, the opening of Ronald McDonald House, and sibling presence. Methods: We retrospectively analyzed data from the first eight weeks of life of 93 extremely preterm infants (<28 gestational weeks, <1500 g birth weight) treated at the Salzburg NICU from 2019 to 2023. Skin-to-skin times were recorded to the minute. Results: The mean value skin-to-skin time per visiting day was 241 min (±83), skin-to-skin was performed on 79.0% (±16.8) of the days of stay examined. During the pandemic, skin-to-skin care was performed on 64% of visit days, after the pandemic on 91% (p < 0.001). Before the Ronald McDonald House opened, the skin-to-skin time per visiting day was 215 min (±57.9), afterwards it was 273 min (±97) (p = 0.001). For Primipara the Kangaroo-Care time per day of visit was 257 min (±93), for Multipara 217 min (±52) (p = 0.043). Conclusions: Skin-to-skin is crucial for extremely premature infants and can be implemented for many hours a day. It is an integral part of parent-child interaction in a neonatal intensive care unit. External factors such as infrastructure, pandemic restrictions or siblings have a significant impact on skin-to-skin. Full article

Background: Motor competence is a key determinant of children’s physical, cognitive, and social development, and it is influenced by various biological and environmental factors. Among these, relative age and the presence of siblings have been proposed as potential contributors, yet their impact remains underexplored, especially in school-aged populations. Objective: This study investigates the influence of relative age and the effects of the presence of siblings on the motor competence of children and adolescents. Methods: The motor competence level of 747 students, 381 from primary school (mean age = 8.81 ± 1.8 years) and 366 from secondary school (mean age = 13.52 ± 1.22 years), was measured by the means of the Canadian Agility and Movement Skill Assessment. Participants were queried about their birth date and whether they had any older siblings. Results: Overall, motor competence exhibited an upward trend with chronological age, reaching its peak among children aged 14 years old. Analysis revealed a significant impact of relative age effects on motor competence among primary children, with considerably higher scores in the first semester (p = 0.017). Conversely, no clear trend was observed for secondary children. Having siblings did not significantly affect motor competence proficiency. Multiple regression analysis further confirmed that relative age did not contribute to this lack of association (quarter of birth: p = 0.003; β = −0.144; siblings: p = 0.697; β = −0.019). Conclusions: These findings suggest that physical education teachers should be aware of the influence of relative age not only when assessing motor competence but also when designing and implementing their teaching practice in primary school settings. In contrast, the effect of relative age appears to be less significant in secondary education, where it may be less relevant for both evaluation and teaching practice. Further research should explore longitudinal designs and consider additional psychosocial and environmental variables to better understand how these factors influence motor competence development over time. Full article

Indoor fungal communities, found in household dust, significantly influence indoor air quality and health. These communities are shaped by environmental, socioeconomic, and household factors. However, studies on indoor mycobiomes, particularly in Croatia, remain limited. This study investigates the relationship between environmental and household factors and indoor fungal communities, focusing on their diversity, composition, and potential health impacts in Croatian households. Dust samples from 66 Croatian households were analyzed using fungal ITS sequencing. Statistical analyses, including alpha diversity measures, were conducted to evaluate the influence of variables such as pet ownership, number of siblings, and cleaning habits on fungal diversity and abundance. Dominant genera included Malassezia, Cladosporium, and the family Didymosphaeriaceae. Pet ownership and sibling presence were linked to higher fungal diversity, with outdoor-associated genera such as Aureobasidium being more abundant in these households. Cleaning practices selectively altered fungal communities, with frequent cleaning reducing diversity, but not eliminating resilient taxa like Malassezia. This study highlights the interplay between environmental, household, and socioeconomic factors in shaping indoor fungal communities. The findings underscore the importance of addressing indoor fungal diversity to improve air quality and health, particularly in households with vulnerable populations. Full article

Phenolic compounds are important antioxidants with great ROS scavenging potential and the presence of the hydroxyl groups is fundamental for this chemical activity. Therefore, changing the chalcogen atom (oxygen) with any of its siblings of group 16 (sulfur, selenium and tellurium) may affect the reactivity of these compounds. In this work, the ROS scavenging activity and mechanism of phenyl chalcogenols was evaluated in silico, unravelling better performance with heavier chalcogens, both thermodynamically and kinetically. Furthermore, a scavenging mechanism switch is reported, moving from Concerted Proton Electron Transfer (CPET) in phenols to Hydrogen Atom Transfer (HAT) in the other phenyl chalcogenols. Both kinetic trends and mechanistic features are rationalized in the framework of Activation Strain Analysis (ASA). Lastly, the role of aromaticity is evidenced by analyzing the differences between the phenol/phenoxyl and methanol/methoxyl self-exchange reactions, as well as between the corresponding processes with the other chalcogens. Full article

We investigated the molecular and clinical profile of five boys carrying the fragile X messenger ribonucleoprotein 1 (FMR1) mutation and who suffered from the effects of prenatal alcohol exposure. Fragile X syndrome (FXS) testing was performed using PCR and Southern Blot analysis, and fragile X messenger ribonucleoprotein protein (FMRP) expression levels were measured by Western blot analysis. Clinical evaluation included cognitive functions, adaptive skills, autism phenotype, and severity of behavior measures. Fetal Alcohol Spectrum Disorder (FASD) was also assessed. Five adopted male siblings were investigated, four of which (cases 1, 2, 3, and 4) were diagnosed with FXS, FASD, and ASD, and one, the fraternal triplet (case 5), was diagnosed with FASD and ASD and no FXS. The molecular profile of case 1 and 2 showed the presence of a hypermethylated full mutation (FM) and the resulting absence of FMRP. Cases 3 and 4 (identical twins) were FM-size mosaics (for the presence of an FM and a deleted allele), resulting in 16% and 50% FMRP expression levels, respectively. FMRP expression level was normal in case 5 (fraternal twin). Severe behavioral problems were observed in all cases, including aggression, tantrum, self-harming, anxiety, and defiant behavior, due to different mutations of the FMR1 gene, in addition to biological exposure, home environmental factors, and potentially to additional background gene effects. Full article

Background/Objectives: The experience of parenting in a highly medicalized, unnatural environment can result in impaired mother–infant bonding, but increased maternal presence at the infant’s bedside has been associated with improved infant and maternal outcomes. The primary objective of this study was to explore barriers and facilitators during the NICU Experience in regard to maternal presence in an NICU. Methods: We interviewed 12 mothers (7 Black, 5 white) of low socioeconomic status (SES) whose preterm infants (average birth gestational age of 27 weeks) were currently hospitalized in an NICU. We engaged the NICU Family Advisory Board in all steps of the research process. Results: Barriers and facilitators to maternal presence spanned all levels of the Socioecological Model; however, barriers were mostly at the societal, community, and institutional levels, while facilitators varied based on interpersonal and individual-level factors. Assets that mothers accessed to facilitate visits, such as free housing and shuttle services, were not available to all mothers based on individual circumstances (e.g., caregiving responsibilities). While a few mothers identified negative interactions with health care practitioners, these encounters were not attributed to racism or described as barriers to visitation. Conclusions: Hospitals can support families with infants in an NICU by providing free or inexpensive short-term sibling support, alleviating the burden of parking costs, and communicating early and frequently about available institutional resources during the hospital stay. Full article

Disorders of sexual development (DSDs) in dogs, similar to humans, arise from genetic mutations, gonadal differentiation, or phenotypic sex development. The French Bulldog, a breed that has seen a surge in popularity and demand, has also shown a marked increase in DSD incidence. This study aims to characterize the genetic underpinnings of DSDs in a French Bulldog named Brutus, exhibiting ambiguous genitalia and internal sexual anatomy, and to explore the impact of breeding practices on genetic diversity within the breed. We utilized a comprehensive approach combining conventional cytogenetics, molecular techniques, and deep sequencing to investigate the genetic profile of Brutus. The sequence data were compared to three other male French Bulldogs’ genome sequences with typical reproductive anatomy, including Brutus’s father and the canine reference genome (CanFam6). We found a Robertsonian fusion involving chromosome 23 previously reported in dogs as a causative mutation responsible for sex reversal syndrome. Our findings revealed a 22% mosaicism (78,XX/77,XX), the absence of the sex-determining region (SRY) gene, and the presence of 43 unique Single Nucleotide Variants (SNVs) not inherited from the father. Notably, the run of homozygosity (ROH) analysis showed Brutus has a higher number of homozygous segments compared to other Bulldogs, with a total length of these fragments 50% greater than the average, strongly suggesting this dog is the product of the mating between siblings. Although no direct causative genes for the DSD phenotype were identified, four candidate loci warrant further investigation. Our study highlighted the need for a better annotated and curated reference dog genome to define genes causative of any specific phenotype, suggests a potential genetic basis for the DSD phenotype in dogs, and underscores the consequences of uncontrolled breeding practices in French Bulldogs. These findings highlight the importance of implementing strategic genetic management to preserve genetic health and diversity in canine populations. Full article

This paper discusses the cases of siblings that were born healthy, then diagnosed in their neonatal periods with cardiomyopathy and/or severe metabolic acidosis, which ran progressive courses and contributed to death in infancy. Molecular testing of the children confirmed the presence of an m.3303C>T point mutation in the mitochondrial DNA in the MT-TL1 gene, which was also present in their oligosymptomatic mother and their mother’s sister, an asymptomatic carrier. Full article

Background: This study aims to analyze the influence of relative age effects, siblings, and digit ratio on the agility of children and adolescents. Methods: The study included 283 children (9.54 ± 1.36 years) and 296 adolescents (14.68 ± 1.36 years) from four different schools. The analyzed variables included anthropometric data, the presence of siblings, relative age effect, and results from the 10 × 5 m shuttle run test. Results: The findings indicated no significant association between agility and either the 2D:4D ratio or the relative age effect in both children and adolescents (p > 0.05). Additionally, having siblings did not have a notable impact on agility. Multiple regression analysis confirmed that relative age did not influence this lack of association (quarter of birth: p = 0.345, β = 0.039; siblings: p = 0.100, β = −0.069). However, boys showed higher performance than girls in the 10 × 5 m shuttle run test, and higher body mass index was related to lower agility. Conclusions: These findings contribute to existing knowledge on the relative effects of age and provide valuable information for physical education teachers on the influence of the 2D:4D ratio and the presence of siblings on the physical fitness of children and adolescents. Full article

Objective: This study examines the current status and variations in creativity between migrant and urban children, exploring the influencing factors affecting creativity. Methods: We selected children from local households in Hangzhou City and non-local migrant households as participants. Their basic demographic information and creative tendencies were assessed using the Children’s Basic Situation Questionnaire and Williams’ Creativity Tendency Measurement Scale, respectively. A multi-model regression analysis was conducted to analyze factors influencing creativity. Results: This study included 1047 children. Significant differences were observed between urban and migrant children regarding age, family type, number of siblings, parental education, parental presence at home, parental guidance in learning, experience of changing schools, having their own room, and academic performance. In addition, migrant children exhibited significantly lower creativity levels compared to urban children. The multi-model regression analysis showed that migrant status, a good parent–child relationship, having parents who often guide learning, having their own room, and excellent academic performance significantly influenced children’s creativity. Conclusions: Migrant children display lower levels of creativity than their urban counterparts, with notable differences across several factors. Full article

Heterozygous mutations in the FOXP1 gene (OMIM#605515) are responsible for a well-characterized neurodevelopmental syndrome known as “intellectual developmental disorder with language impairment with or without autistic features” (OMIM#613670) or FOXP1 syndrome for short. The main features of the condition are global developmental delay/intellectual disability; speech impairment in all individuals, regardless of their level of cognitive abilities; behavioral abnormalities; congenital anomalies, including subtle dysmorphic features; and strabismus, brain, cardiac, and urogenital abnormalities. Here, we present two siblings with a de novo heterozygous FOXP1 variant, namely, a four-year-old boy and 14-month-old girl. Both children have significantly delayed early psychomotor development, hypotonia, and very similar, slightly dysmorphic facial features. A lack of expressive speech was the leading symptom in the case of the four-year-old boy. We performed whole-exome sequencing on the male patient, which identified a pathogenic heterozygous c.1541G>A (p.Arg514His) FOXP1 mutation. His sister’s targeted mutation analysis also showed the same heterozygous FOXP1 variant. Segregation analysis revealed the de novo origin of the mutation, suggesting the presence of parental gonadal mosaicism. To the best of our knowledge, this is the first report of gonadal mosaicism in FOXP1-related neurodevelopmental disorders in the medical literature. Full article

The present study’s objective constitutes the examination of the prognostic factors that influence the inclination of students in secondary school towards pursuing higher education. To achieve this goal, an existing questionnaire was utilized and appropriately altered to align with the Greek educational system. The survey involved the participation of 301 secondary school students from Piraeus, which comprises one of Greece’s major cities. The outcomes of the research yield substantial endorsement for the principles outlined in the social cognitive career theory. Specifically, the study highlights the significant role of family background, encompassing the educational levels of the parents, the students’ perceptions of the family’s financial situation, and the financial support provided by the family during the students’ academic journey, in shaping the students’ intent towards pursuing higher education. Moreover, the presence of a secure attachment bond between students and their parents suggests a favorable inclination towards higher education. Conversely, students deriving from low-income families are prone to exhibit hesitancy in pursuing higher education. The acquired data reveal a constructive relationship among outcome expectations, social support, as well as the process of students’ interest in developing a desire for higher education. Conversely, factors such as gender and age, as well as the presence of siblings studying in higher education, appear to have little influence in this regard. Full article

The success of any tsetse control program depends on the knowledge of their behaviour. This study assessed the host choice and feeding behaviours of Glossina morsitans siblings whose parents were bloodfed on rabbits, guinea pigs, rodents, and squirrels. Each individual host was placed in a screen cage, which allowed flies to enter through openings on each side. The groups of flies (20 per replicate), which were colour-marked differently based on their parents’ blood meal hosts, were released from the centre of large semi-field cage. The released flies were aspirated after 24 h and then sorted based on their location, feeding status, and parents’ blood meal. A total of 213 flies (72.95% of those recovered) were attracted to the hosts. The numbers of flies attracted to different hosts varied significantly (χ²₄ = 33.685, p = 0.0001): rodents (n = 80, p = 0.006), rabbits (n = 59, p = 0.331), guinea pigs (n = 49, p = 0.057), and squirrels (n = 25, p = 0.005). The numbers of flies attracted to their parent’s blood meal source varied significantly (χ²₁₂ = 56.476, p < 0.001): rabbits (n = 35, 59.32%, p < 0.001), rodents (n = 25, 31.25%, p = 0.043), and guinea pigs (n = 19, 38.78%, p = 0.45). But only 39 flies (18.31% of the total attracted) bloodfed on the hosts, including guinea pigs (n = 10, 25.64%), rodents (n = 23, 58.97%), rabbits (n = 6, 15.38%), and squirrels (n = 0, 0.0%). There was significant variation in the number of flies that fed successively across hosts (χ²₄ = 49.478, p < 0.001). The findings from this study confirm the presence of differential attractiveness of the hosts to flies and the so-called “Hopkins host selection principle” or “pre-imaginal conditioning”. Therefore, the study attracts the need for detailed investigation on the influence of blood meal sources on tsetse fly siblings’ behaviours across filial generations using small mammals or other large mammal species. Full article