Abstract Purpose of Review This review aims to provide a brief historical overview of genetic counseling and its evolution, addressing the qualified professionals and clinical requirements necessary to obtain a diagnosis and post-test guidance across different stages of patients' lives. Recent Findings Recent advances in the understanding of genetic diseases and contemporary diagnostic tools offer a novel approach to evaluating conditions both prenatally and in pediatric patients, facilitating precise diagnoses and tailored clinical interventions, including modern treatment regimens. Summary Genetic counseling is a dynamic, multidisciplinary medical process that translates the complexities of hereditary and genomic conditions into actionable clinical care. Historically rooted in pediatric dysmorphology and conventional cytogenetics, the field has evolved into an essential specialty spanning multiple organ systems and life stages. A definitive diagnostic pathway requires detailed family history, gestational assessment, and meticulous physical examination—with dysmorphology analysis serving a pivotal role from the neonatal period onward. While conventional tools such as karyotype, chromosomal microarray analysis, and Sanger sequencing remain clinically relevant, next-generation sequencing technologies—including whole-exome sequencing, whole-genome sequencing, and optical genome mapping—have dramatically improved diagnostic yield, particularly in complex or atypical phenotypes. Following molecular confirmation, genetic counseling guides the interpretation of findings, recurrence risk assessment, family screening, and reproductive planning. Importantly, therapeutic paradigms have advanced beyond supportive and symptomatic care to encompass precision medicine, such as gene editing, cell therapies, and targeted pharmacological agents. Comprehensive care demands close integration among geneticists, pediatricians, subspecialists, and allied health professionals to provide long-term clinical management, surveillance, and psychosocial support.
OBJECTIVE: To synthesize evidence on the physiological determinants of endurance capacity in individuals with cerebral palsy. DESIGN: Narrative review. SUBJECTS/PATIENTS: Children and adults with cerebral palsy across the spectrum of motor function (Gross Motor Function Classification System I-V). METHODS: Relevant literature on cardiovascular, pulmonary, haematological, and musculoskeletal determinants of endurance capacity in individuals with cerebral palsy was identified and synthesized. RESULTS: Reduced cardiorespiratory fitness is common, with autonomic dysregulation potentially constraining heart rate responses during exercise, while lower oxygen pulse suggests limitations in stroke volume and peripheral oxygen extraction. Restrictive ventilatory patterns, including reduced functional lung volumes, may further impair exercise capacity. High energetic demands during basic movements exacerbate fatigue and reduce engagement in physical activity. Skeletal muscle also exhibits structural and metabolic alterations, including reduced muscle volume, capillary density, and mitochondrial function, impairing oxygen utilization and energy production. CONCLUSION: Despite methodological heterogeneity, evidence consistently indicates that integrated central and peripheral factors constrain endurance capacity, with impairments more pronounced in individuals with greater functional limitations. Adapted training modalities, such as Frame Running, show promise in improving these outcomes. Understanding these physiological determinants is essential for developing individualized interventions to improve function, participation, health, and quality of life in individuals with cerebral palsy.
Linnéa Corell, Nina Mosser, Sebastian Edman et al.
ABSTRACT The phenomenon of school dropouts among adolescents in Parit Pekir presents a psychosocial complexity that demands a profound understanding of their lived experiences when accessing psychological support. This study aims to delineate the experiences and meanings attributed to guidance and counseling services by school dropouts at SMK Yapensu Sungailiat through the lens of Alfred Schutz’s social phenomenology. Data collection relied on in-depth interviews, observation, and documentary study involving six adolescent school dropouts and two guidance and counseling teachers as supporting informants. Data analysis was executed cyclically, encompassing data condensation, thematic presentation, and conclusion drawing. The findings reveal a significant shift in meaning; the informants' initial perception shadowed by fear and the stigma of the counseling room as a corrective-punitive space transformed into positive acceptance. Counselor interactions characterized by empathy, openness, and a non-judgmental stance cultivated a safe space that alleviated emotional turmoil while fostering the informants' self-efficacy. This study concludes that counseling for out-of-school adolescents plays a pivotal role as an intersubjective vehicle to reconstruct self-understanding and redesign future orientations. Community-based psychosocial support emerges as a crucial necessity to ensure the sustainable emotional recovery of marginalized adolescents. ABSTRAK Fenomena putus sekolah pada remaja di Parit Pekir menghadirkan kompleksitas psikososial yang menuntut pemahaman mendalam mengenai pengalaman mereka saat mengakses pendampingan psikologis. Penelitian ini bertujuan untuk menguraikan pengalaman dan pemaknaan layanan bimbingan konseling oleh remaja putus sekolah di SMK Yapensu Sungailiat melalui lensa fenomenologi sosial Alfred Schutz. Pengumpulan data mengandalkan wawancara mendalam, observasi, dan studi dokumentasi terhadap enam remaja putus sekolah serta dua guru bimbingan konseling sebagai informan pendukung. Analisis data dijalankan secara siklis meliputi kondensasi data, penyajian tematik, serta penarikan kesimpulan. Hasil penelitian mengungkapkan pergeseran pemaknaan yang signifikan; persepsi awal informan yang dibayangi rasa takut dan stigma ruang bimbingan sebagai arena korektif-punitif bertransformasi menjadi penerimaan positif. Interaksi konselor yang empati, terbuka, dan tidak menghakimi (non-judgmental) menciptakan ruang aman (safe space) yang meredakan gejolak emosional sekaligus membangkitkan efikasi diri (self-efficacy) informan. Penelitian ini menyimpulkan bahwa konseling bagi remaja di luar sistem sekolah berperan penting sebagai wahana intersubjektif untuk merekonstruksi pemahaman diri dan merancang kembali orientasi masa depan. Pendampingan psikososial berbasis komunitas (community-based counseling) menjadi kebutuhan krusial guna menjamin keberlanjutan pemulihan emosional remaja marjinal.
The aim of this study was to compare pre-service teachers' preference of information stemming from different diagnostic approaches. Participants ( N = 185) evaluated vignettes containing diagnostic information from norm-referenced testing, criterion-referenced testing, and two types of information coming from dynamic testing (Graduated Prompt training scores and pretest/posttest scores). They rated these vignettes regarding their usefulness for understanding a child's difficulties and for planning individualized education. Additionally, attitudes towards diagnostics, beliefs about diagnostic goals and prior knowledge of diagnostic approaches were examined as potential moderators. Overall, information from norm-referenced testing was seen as least useful. No differences were found between the other diagnostic approaches. Moderation effects were found for all of the assessed variables.
Taina Gabriel, Jochanan Veerbeek, Moritz Börnert-Ringleb
Social media use by youth is nearly a universal phenomenon. Adolescents of this generation find it very challenging to envision a life without social media. Despite its pervasive use among children and adolescents, there has been very little research conducted to understand the impact of time spent on social media on children, especially on their mental health and wellbeing. This systematic review examines the extent to which social media screen time is associated between depressive and anxiety symptoms among adolescents aged 10-19 years. Following the PRISMA 2020 Statement, six databases and Google Scholar were searched, of which fifty eligibility studies were retrieved which was published between January 2015 and August 2026, comprising 33 cross-sectional and 17 cohort designs. Two independent reviewers partitioned records, extracted data, and assessed methodological quality using the Joanna Briggs Institute (JBI) Critical Appraisal Checklists for cross-sectional and cohort studies. As a result of the substantial heterogeneity in exposure and outcome measures, a narrative synthesis of the findings was more relevant than statistical pooling. The majority of studies reported a significant positive association between social media use and depressive symptoms, with the recent cohort studies using within-person analytic techniques strengthening this association. Evidence for anxiety was directionally similar but weaker, less consistent, and in several studies non-linear. The key moderating and mediating factors were gender, sleep disruptions, cyberbullying, active vs. passive engagement, and familial and peer environments. Quality appraisal indicated a generally sound evidence base, with all cross-sectional studies rated high quality, confidence was limited by widespread dependence on unvalidated self-report exposure measures and unclear baseline symptom status in the cohort studies. These findings support a shift in clinical practice, policy, and future research away from screen-time limits alone and toward assessing the pattern, content, and context of adolescent social media use. Keywords: mental health; Depression; Anxiety; Adolescents; social media screen time
The Bajo people are known for their closeness to and dependence on the sea. Over the past few decades, the Bajo people have undergone significant changes that are worth examining. This study aims to analyze the socio-ecological transformation of the Bajo people who inhabit Sadulang Besar Island, Sapeken Archipelago, East Java, with particular attention to how environmental literacy, intergenerational learning, and shifting livelihood strategies have contributed to changes in marine practices and ecological identity. They have transformed from shark hunters into key actors in environmental literacy-based marine stewardship. This research uses a qualitative descriptive approach with a case study design. The study involved community leaders—former shark hunters, young environmental activists, seaweed farmers, teachers from educational institutions, and village government officials. A total of 24 semi-structured interviews were conducted across these groups, supported by participant observation, documentation of community activities, a community ecological-literacy survey, and village-level secondary records. The collected data were then analyzed using the interactive model of Miles et al. The results show that increasing community-based environmental literacy is a key factor in changing ecological behavior and reconstructing the identity of the Bajo people. At the same time, the findings suggest that this transformation was not driven by literacy alone, but also by changing economic opportunities, youth leadership, external mentoring, and community reflection on the ecological consequences of earlier practices. The process of critical reflection and transformative learning supports the younger generation of the Bajo people in developing conservation movements, including coral transplantation, the construction of fish houses/apartments, and intensive community mentoring in seaweed cultivation. Quantitative data show an 87.2% decrease in households actively engaged in shark hunting and an increase in participation in conservation activities from 22% to 74% over the past decade. Sapeken District is also listed as the largest seaweed producer in Sumenep Regency. These findings demonstrate that environmental literacy, fostered by local awareness, has been shown to drive social and economic change toward sustainability. Rather than presenting the case as a simple success story, this article highlights a negotiated and still ongoing transition in which conservation, livelihood adaptation, and social legitimacy continue to be worked out within the community. This research provides conceptual and practical contributions to the development of a community-based environmental literacy model for coastal stewardship, while acknowledging its contextual limits and the need for comparative studies in other Sama-Bajau/Bajo settings.
Husamah Husamah, Abdulkadir Rahardjanto, Atok Miftachul Hudha et al.
The increasing integration of digital technologies into inclusive school settings may heighten the vulnerability of students with special educational needs to online child sexual exploitation and abuse (OCSEA) and online grooming. This study examines schools’ capacity to identify and respond to these risks, with a focus on the initial response in the first 24 h after a concern is raised. Semi-structured interviews were conducted with 30 school professionals in Türkiye (15 teachers; 15 school administrators) working in inclusive settings. Data were analysed using thematic analysis. Seven themes were identified: (1) digital risks encountered by students within inclusive school settings, (2) early warning signs, (3) schools’ initial response process in suspected cases, (4) schools’ technical safety measures, (5) gaps in student-facing education, (6) teachers’ professional development needs, and (7) recommendations for families. Risks were most frequently linked to unmoderated interactions on social media and in online games. Concerns were commonly recognised through behavioural indicators. Although referral to the school guidance/counselling service was typical, participants reported uncertainty about legal reporting requirements and referral pathways and described feeling insufficiently prepared. Overall, the findings suggest that technical measures alone are inadequate and underscore the need for a comprehensive school safety approach that includes clear reporting protocols, structured staff training, and sustained collaboration with families.
AbstractConcurrent wasting and stunting (WaSt) is a condition where both wasting and stunting exist in a child at the same time. This study aimed to assess the prevalence of WaSt and to identify potential associated factors in Ethiopia. A total of 33,650 children aged between 0 and 59 months were included in the analysis from the four waves of the Ethiopian Demographic and Health Survey. A mixed‐effects logistic regression model was used to identify the determinants of WaSt. The prevalence of WaSt was found to be 4.7% (95% confidence interval [CI]: (4.5–4.9)), with respectively 2.5% (95% CI: 2.1–3.1) and 4.9% (95% CI: 4.7–5.2) among children in urban and rural settings. Children: (i) in the age group 12–23 months (adjusted odds ratio [AOR]: 4.16, 95% CI: (3.20–5.42)) and 24–59 months (AOR: 3.08, 95% CI: (2.28–4.17)); (ii) who were perceived by their mothers to be smaller than normal at birth (AOR: 1.98, 95% CI: (1.57–2.50)); (iii) had diarrhoea (AOR: 1.38, 95% CI: (1.11–1.71)); and (iv) fever in the past 2 weeks (AOR: 1.38, 95% CI: (1.10–1.71)) reported higher odds of WaSt. Being a female child (AOR: 0.57, 95% CI: (0.48–0.69)), having received measles vaccination (AOR: 0.71, 95% CI: (0.55–0.89)), having a mother with a normal body mass index (18.5–24.9 kg/m2) (AOR: 0.57, 95% CI: (0.48–0.68)), having a wealthier household (AOR: 0.67, 95% CI: (0.50–0.90)), and living in rural setting (AOR: 0.49, 95% CI: (0.32–0.74)) were associated with reduced odds of WaSt. The prevalence of WaSt was high, with approximately 1 in 20 Ethiopian children suffering from the condition and needing a prompt response to minimize the poor health and developmental outcomes. Children perceived by their mother to be smaller than normal at birth, older children, and babies with diarrhoea and fever had higher odds of WaSt.
Biniyam Sahiledengle, Kingsley E. Agho, Pammla Petrucka et al.
Work-to-family conflict has significant implications for adult child caregivers and the older parents they care for, and cultural values such as filial piety play a critical role in shaping these dynamics. By integrating the work-home resources model with the dual filial piety framework, this study offers a novel perspective on how filial piety shapes the resource-depletion processes linking work-to-family conflict with family role performance. We conducted two empirical studies to test our hypotheses. Study 1 employed a time-lagged survey design and included 292 full-time employees who regularly provided care to their aging parents. Study 2 adopted a weekly experience sampling design, involving 256 participants and yielding 1,265 observations over a 5-week period. The results reveal that work-to-family conflict is negatively associated with family role performance. Informal caregiver burnout mediates this relationship. Moreover, reciprocal filial piety buffers the indirect effect of work-to-family conflict on family role performance through caregiver burnout, whereas authoritarian filial piety amplifies it. These findings highlight the role of culturally embedded filial norms in shaping resource dynamics and provide actionable insights for promoting caregiver well-being and eldercare quality in rapidly aging societies. (PsycInfo Database Record (c) 2026 APA, all rights reserved).
Purpose To develop a simple screening tool, the Thumbs-Out Classification (TOC), for detecting thumb-in-palm deformity during clinical follow-ups of children with cerebral palsy (CP), and to evaluate its reliability.Methods The TOC was developed through expert consensus and consists of three levels of radial thumb abduction: normal (green), slightly reduced (yellow), and severely reduced (red). Classification cut-offs were established using goniometric measurements from 20 typically developing children. These cut-offs were then applied to classify active and passive radial thumb abduction in 61 children with CP (median age 9 years). Inter-rater, intra-rater, and test-retest reliability were assessed using Cohen’s weighted kappa (κw) and percentage agreement.Results Agreement between goniometric measurements and TOC levels was moderate for both active (κw = 0.59) and passive (κw = 0.54) radial abduction, with substantial percentage agreement (79% and 81%, respectively). Inter-rater reliability was almost perfect for active (κw = 0.93) and passive (κw = 0.89) radial abduction. Test-retest reliability was also almost perfect (active κw = 0.84; passive κw = 0.93).Conclusions The TOC is a reliable screening tool for monitoring thumb positioning in children with CP. It may facilitate detection of thumb-in-palm deformity and support timely interventions aimed at optimising hand function.
Jenny Hedberg‐Graff, Lena Krumlinde‐Sundholm, Fredrik Granström et al.
