Family-based Approach Research Articles

Optimizing Childhood Obesity Management: The Role of Edmonton Obesity Staging System in Personalized Care Pathways.

Childhood obesity, affecting 29% of 7-9-year-olds across 33 European countries, is a significant public health challenge. Its persistence into adulthood poses grave health risks influenced by genetic, environmental, and socio-economic factors. Belgium introduced a new care pathway in December 2023, based on the Edmonton Obesity Staging System for Pediatrics (EOSS-P), addressing four health domains and staging obesity severity. This pathway operates across three levels: primary care physicians, Paediatric Multidisciplinary Obesity Management Centres (PMOCs), and Centers of Expertise for Paediatric Obesity Management (CEPOs). Each stage of EOSS-P demands tailored interventions. Early stages involve dietary interventions, physical activity promotion, and behavior modifications. As obesity severity progresses, treatments intensify, encompassing psychological support, anti-obesity medications, and, in some cases, bariatric surgery. Throughout these stages, the involvement of multidisciplinary teams is crucial, emphasizing family-based approaches and continuous monitoring. This article provides detailed guidelines for healthcare professionals, delineating interventions and recommendations tailored to each EOSS-P stage. It emphasizes a holistic approach that extends beyond BMI-based diagnosis, promoting personalized care and prompt escalations between care levels, thereby ensuring optimal management of childhood obesity. This comprehensive framework aims to address the complexities of childhood obesity, emphasizing the importance of timely and targeted interventions for better health outcomes.

A family-based and mobile-assisted intervention for lifestyle behaviors in youths: A randomized controlled trial.

This randomized controlled trial was conducted to assess the effectiveness of a family-based and mobile-assisted lifestyle intervention in reducing weight gain among school-age children with overweight and obesity. A total of 164 school-age children with overweight or obesity and their parents were randomized to the treatment intervention (n = 82) or an attention-control group (n = 82). The treatment intervention included three face-to-face education sessions, augmented by monthly text messages sent to parents on their mobile devices. The primary outcome was child BMI-for-age z-score. Secondary outcomes included child BMI, percent body fat, and actigraphy-assessed sleep as well as parental sleep quality. Outcomes were assessed at baseline, 3, 6, and 12 months after the intervention, with treatment effects analyzed using general linear models for repeated measures. Our results showed that children in the treatment intervention group had significantly lower BMI-for-age z score, BMI, and percent body fat than did those in the control group, with an adjusted mean difference of 0.31 units (95% CI: -0.59 to -0.03; p = 0.03), 1.34 kg/m² (95% CI, -2.42 to -0.26; p = 0.01), and 3.12% (95% CI, -5.93 to -0.30; p = 0.03), respectively. No treatment effects were observed for child and parental sleep. Our findings suggest that family-based and mobile-assisted lifestyle intervention results in significant and sustained benefits to enhanced weight management for school-age children with overweight and obesity. Nurses planning and delivering childhood overweight and obesity treatment interventions should consider a family-based approach with the assistance of mobile devices.

Moving from research to clinical care: Building therapist capacity to deliver the teen online problem-solving program for acquired brain injuries in adolescence.

To describe the training process for teen online problem solving (TOPS) for acquired brain injury (ABI) in adolescence. We evaluated feedback from training participants and therapists delivering the intervention to assess facilitators and barriers to adoption into clinical practice. Therapist trainings took place between February 2020 and December 2021 and were primarily virtual due to the COVID-19 pandemic. We surveyed 190 trainees and 27 active therapists regarding their experiences with the training process and with delivering the intervention to families, respectively. Descriptive statistics were reported for Likert scale items. Open-ended survey responses were summarized using inductive thematic analysis by two independent coders, and themes were compared by profession. The majority of trainees reported that they felt comfortable or very confident using the TOPS intervention with patients following the training. Trainees reported that they benefited from clinician-centered and applied training components. Active therapists identified facilitators to TOPS implementation including the family-based therapeutic approach, virtual format, and the broad generalizability of the problem-solving framework. Barriers to implementation included low family engagement, comorbid mental health or language difficulties, and external family stressors. The implementation process for TOPS highlights the importance of and challenges to the dissemination of psychosocial interventions. As pediatric ABI remains an underserved population within behavioral health, future implementation work should address barriers in integrating evidence-based therapies within clinical practice. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

EHealth, family-based interventions, and multilevel approaches to pediatric weight management: a scoping review.

This scoping review examines the current literature on technology-based, eHealth interventions that integrate community and clinical approaches for family-based pediatric weight management. Telehealth and eHealth interventions for weight management are increasingly commonplace; however, it is unclear in the current literature how family-based, pediatric, healthy-weight interventions integrate technology. Additionally, multilevel approaches to address childhood obesity, including working with clinical and community partners, are currently considered best practice and within the socioecological framework for sustainability of outcomes. Little is known how current family based pediatric healthy weight interventions integrate eHealth and multi-level approaches. Guided by Arksey and O'Malley's scoping review framework, a scoping literature review was conducted. Four databases were searched to identify studies conducted between 2010 and 2022 that addressed multilevel, family-based, pediatric weight management interventions that also integrated technology. Studies were excluded that did not include at least 2 of the 4 components and that did not include technology to some degree. A total of 15 articles were included in the scoping review. All articles included some type of technology in the intervention. Twelve articles included a family-based approach, and only 1 article fully used a holistic approach to family-based, pediatric weight management that included technology and integrated clinical and community approaches to address the complexity of childhood obesity. There are several family-based, pediatric weight management interventions that incorporate an eHealth component. There is a gap in the literature about programs that use both technology and integrate multilevel clinical and community approaches for treatment. Additionally, gaps exist in information about adolescent, family-based, weight management interventions, and there are opportunities for nutrition and dietetic professionals to become more involved with technological and multilevel approaches in family-based pediatric weight management.

Health Indicators for Accelerating Stunting Reduction: Family Practices in Indonesian Borderland

Background: The Indonesian government has established the latest family-based approach to implement the national strategy to accelerate the reduction of stunting in Indonesia through a family-based intervention approach. Family-based intervention is proven scientifically efective in preventing growth retardation in children under five. However, this research was conducted on families with children aged 0-2 years so that all of the presented problems can be used as a reference in providing family-based interventions. This study aims to describe family health practices in preventing stunting among the people in the border areas of Indonesia and Timor Leste. Subjects and Method: This was a quantitative descriptive study with a cross-sectional design, conducted from May to June 2022. A total of 257 families (out of a total population of 566) with children aged 0-24 months spread across 16 integrated healthcare centers (Posyandu) at the Haliwen Health Center, Belu District, East Nusa Tenggara Province, Indonesia. The subjects in this study were selected by simple random sampling. The single variable in this study was family health practices in preventing stunting, consists of 18 indicators adopted and elaborated from presidential regulation 72 concerning accelerating the reduction of stunting. the data collected by a set of questionnaires. The data analyze by univariate analysis to describe frequency (n) and percentage (%) of each indicators. Results: Out of a total of 18 assessed indicators, most families still use open garbage cans, burning garbage for destruction, and did not carry out pre-marital health screening. Conclusion: The results of this study showed that most of the health indicators had been carried out by families with infants under two years old. It is in line with the growth status of under-two, most of whom are not stunted. Keywords: stunting, children under two, family-based intervention. Correspondence: Maria Paula Marla Nahak. Nursing study program, Universitas Timor, Indonesia. Jln. El Tari - Km. 09, Sasi, Kefamenanu, Timor Tengah Utara, Nusa Tenggara Timur, Indonesia. Email: paulamarla@­unimor.ac.id.

Early phase clinical trials in pediatric oncology: Swedish pediatric oncologists' experiences of balancing hope and expectations in life-threatening illnesses.

To study Swedish pediatric oncologists' practical and emotional experiences of referring, including and/or treating children in early-phase clinical trials. A nationwide study was conducted using a mixed-method approach. Structured interviews based on a study-specific questionnaire and participants' personal reflections were utilized. Survey responses were analyzed using descriptive statistics, while participants' comments were analyzed using thematic analysis. All interviews were recorded and transcribed verbatim. In total, 29 physicians with 4 to 32 years of experience in pediatric oncology participated, with 19 (66%) having > 10 years of experience. Three themes appeared: 1) Optimization-based approach focused on finding the most suitable treatment and care for every child with a refractory/relapsed cancer eligible for an early-phase clinical trial; 2) Team-based approach aimed at establishing local and national consensus in decision-making for treatment options, including early-phase clinical trials and palliative care; 3) Family-based approach in which the physicians provided families with actionable information, listened to their desires, and endeavored to maintain hope in challenging circumstances. Several participants (40% with ≤ 10 years of experience and 58% with > 10 years of experience) viewed the early-phase clinical trial as a potential "chance of cure". A majority (80%) of physicians with ≤ 10 years of experience, reported that they often or always felt personally and emotionally affected by communication regarding early-phase clinical trials. Delivering difficult news in cases of uncertain prognosis was identified as the major challenge. None of the study participants felt adequately prepared in terms of sufficient knowledge and experience regarding early-phase clinical trials. The physicians expressed a need for guidance and training in communication to address these challenges. Working with early-phase clinical trials highlight a field where physicians cannot solely rely on their expertise or past experiences, and where they are likely to be deeply emotionally involved. Physicians who care for children eligible for such studies require targeted educational initiatives and supervision.

Innovative strategies to predict and prevent the risk for malnutrition in child, adolescent, and young adult cancer survivors.

Children, adolescents, and young adult cancer survivors (CAYAs) constitute a growing population requiring a customized approach to mitigate the incidence of severe complications throughout their lifetimes. During cancer treatment, CAYAs cancer survivors undergo significant disruptions in their nutritional status, elevating the risks of mortality, morbidity, and cardiovascular events. The assessment of nutritional status during cancer treatment involves anthropometric and dietary evaluations, emphasizing the necessity for regular assessments and the timely identification of risk factors. Proactive nutritional interventions, addressing both undernutrition and overnutrition, should be tailored to specific age groups and incorporate a family-centered approach. Despite encouraging interventions, a notable evidence gap persists. The goal of this review is to comprehensively examine the existing evidence on potential nutritional interventions for CAYAs cancer survivors. We explore the evidence so far collected on the nutritional intervention strategies elaborated for CAYAs cancer survivors that should target both undernutrition and overnutrition, being age-specific and involving a family-based approach. Furthermore, we suggest harnessing artificial intelligence (AI) to anticipate and prevent malnutrition in CAYAs cancer survivors, contributing to the identification of novel risk factors and promoting proactive, personalized healthcare.

SPOUSAL MULTIMORBIDITY AND DEPRESSIVE SYMPTOMS AMONG OLDER INDIAN COUPLES: DOES ONE’S OWN HEALTH AND GENDER MATTER?

Abstract With the aging population, increases in non-communicable diseases that require chronic management pose economic and social burdens to individuals with multimorbid conditions and their spousal caregivers. However, little is known about the crossover effect of spousal multimorbidity on mental health outcomes in the context of low-and middle-income countries, and whether it depends on one’s own health status and gender. We used data on 6,158 older couples (12,316 individuals aged 60 years or above) from the Longitudinal Aging Study in India (LASI) 2017-18 to examine the association between spousal multimorbidity and depressive symptoms. Overall, 23.4% of the sample were multimorbid and 27.0% reported having depressive symptoms in the past week. Multivariate logistic regression models showed that spousal multimorbidity was associated with depressive symptoms, even after accounting for one’s own multimorbidity status (adjusted odds ratio(aOR)=1.23; 95% confidence interval (CI)=1.06-1.44). However, this association was gender-specific. Among men, when jointly considered, spousal multimorbidity was no longer statistically significant whereas their own multimorbidity was associated with 60% higher odds of having depressive symptoms (aOR=1.60; 95% CI=1.28-2.00). Furthermore, the association between spousal multimorbidity and depressive symptoms was contingent upon the presence of their own multimorbidity for men. Among women, spousal multimorbidity was significantly associated with depressive symptoms, regardless of their own multimorbidity status. Our findings indicate that interventions to promote healthy aging should expand the formal caregiving system and consider family-based approaches to minimize the crossover health consequences of morbidity in conjugal relationships, especially for women.

P98: Effects of A Brief Intensive Home-based Discharge Support Program on Older Patients’ Recovery and Family Carers’ Psychological Wellbeing

Background:Seamless transition to the community and a shorter Length of Stay (LOS) at hospitals are considered priorities in many health care systems. In Hong Kong, Hospital Admission Risk Reduction Program for the Elderly (HARRPE)1 - a risk prediction tool has been used by hospitals to facilitate discharge of older patients and minimize the need for hospital or emergency re-admission. Older patients score > 0.2 and present greater social-care needs than medical issues will be followed up by a community NGO, in service partnership with the hospital, through an 8-week, home-based, Intensive Discharge Support Program (IDSP)2. Apart from evaluating the success in admission risk reduction, this study was also to assess the program’s effects on patients’ health status and well-being for both discharged patients and family carers, and to understand the underlying supportive mechanism of IDSP.Methods:A mixed-method approached was used, as establishing control groups was not feasible due to both ethical and practical concerns. Structured interviews integrating standardized instruments were employed to evaluate changes in outcome variables pre-and-post IDSP intervention for both the discharged patients and their carers. To complement the quantitative data, two focus groups involving 9 carers were organized to explore the essential and critical service elements of the discharge program, including their effects on promoting patients’ wellbeing or alleviating caregiver burden.Results:48 patient-carer dyads were recruited from the discharge program, with 35 pairs (73%) successfully completed both pre-and-post IDSP interviews. 68.6% of the discharged elders had no hospital readmission during the 8-week in IDSP. While there were statistically significant improvement in ADL, IADL (p<0.001), the environment domain of WHOQOL(p<0.05), and 3 other domains measured by the Health Status Questionnaire (HSQ-12), namely social functioning, role limitation due to mental health and level of fatigue (p<0.05) among the patient group, there was only one outcome variable – the environment domain of WHOQOL showed significant improvement (p≤0.01) among carers. Focus group discussions also highlighted the importance of using a family-based approach in providing discharge support.Conclusion:This Discharge support program which emphasizes hospital-community collaboration seems beneficial to older patients’ timely recovery and smooth transition back to community.

Geographical and sociodemographic disparities in fruit and vegetables consumption among adults in Burkina Faso: baseline results from the 2013 WHO STEPS survey

BackgroundEvidence on sociodemographic determinants and spatial variations in the fruit and/or vegetable (FV) consumption was reported. This study aimed to explore geographical and sociodemographic disparities in the level of FV consumption among adults in Burkina Faso, using the national baseline data.MethodsThis was a cross-sectional secondary study of primary data obtained by the 2013 (September to October) World Health Organization Stepwise Approach to Surveillance survey conducted in Burkina Faso. The participants were 4402 women and men aged 25–64 years and living in all 13 Burkinabè Regions. Descriptive and analytical analyses were performed using Student’s t test, ANOVA, the chi-square test, Fisher’s exact test and logistic regressions.ResultsThe prevalence of a typical daily consumption of at least three servings was 4.1% (95% CI: 3.6–4.8) for fruits and 6.6% (95% CI: 5.9–7.3) for vegetables. The national prevalence of adequate FV intake was 5.1% (95% CI: 4.4–5.8), and for two Regions (“Centre-Ouest” and “Nord”) the pooled prevalence was 22.4%, while in the other eleven Regions its was significantly lower, 2.4% (p = 0.0001). Using quartiles derived from the national level of consumption, each of these two Regions had a higher proportion (about 50%) of their participants in the fourth quartile (the higher level). The associated sociodemographic factors with the adequate intake were being rural residents (aOR = 1.7, p = 0.011) and women (aOR = 1.3; p = 0.03).ConclusionExcept for the Regions of “Centre-Ouest” and “Nord” of Burkina Faso, the prevalence of adequate consumption of FV was very low in its other eleven Regions. Measures to increase consumption in urban people are urgent while women should be the key actor in the family-based approaches implementation and the nutrition education promoting FV consumption.

Experiences of young people living with type 1 diabetes in transition to adulthood: The importance of care provider familiarity and support.

During the developmental transition from childhood to adulthood, young people living with type 1 diabetes (T1D) are more likely to take less care of their chronic disease. Alongside the developmental transition, young people with T1D also experience an organisational transition in which the care responsibility changes from a family-based approach in paediatric care to an individualised approach in adult care. Little is known from the perspective of the young people about what their interactions with the healthcare providers mean during these transitions. The aim of this study is to explore how young people living with T1D experience interactions with their care providers, and what it means for their developmental transition. Semi-structured interviews with 10 respondents aged 18-20 living with T1D who were recruited from a youth outpatient diabetes clinic in Denmark. Recorded audio data were transcribed and analysed using an interpretative phenomenological analysis approach. Young people experience continuity in the relationship with the diabetes nurse from the paediatric clinic and a personal patient-provider relationship with their well-known and new care providers. This creates a feeling of familiarity and contributes to a seamless transition. The young people express that becoming more involved in diabetes treatment increases their willingness to take more responsibility for their own health. They also express that care providers should support them in managing their diabetes and talk about sensitive topics. Continuity in the relationship with the diabetes nurse makes the transition from paediatric to adult care more satisfying and seamless. To support the developmental transition, care providers should gradually involve young people more in diabetes management and be supportive as they become more independent during the developmental transition.

Family Involvement to Stop the Conversion of Prediabetes to Diabetes.

Prediabetes is a condition associated with an increased risk of developing diabetes, in which blood glucose levels are high but not high enough to be diagnosed as diabetes. The rapid increase in the prevalence of prediabetes is a major global health challenge. The incidence of prediabetes has increased to pandemic levels and can lead to serious consequences. Unfortunately, nearly 90% of prediabetic individuals are unaware of their ailment. A quarter of prediabetic individuals develop type 2 diabetes mellitus (T2DM) within 3-5 years. Although prediabetes is a reversible condition, the prevention of diabetes has received little attention. It is essential for prediabetic individuals to implement new health-improvement techniques. Focusing on family systems is one strategy to promote health, which is determined by health patterns that are often taught, established, and adjusted within family contexts. For disease prevention, a family-based approach may be beneficial. Family support is essential for the metabolic control of the disease. This study aimed to show several strategies for involving the patient's family members in preventing the conversion of prediabetes to T2DM and to emphasize that the patient's family members are a valuable resource to reduce the incidence of diabetes.

"We'll deal with it as it comes": A Qualitative Analysis of Romantic Partners' Dyadic Coping in Cystic Fibrosis.

Although cystic fibrosis (CF) is a progressive, life-limiting, genetic disease, recent advances have extended survival, allowing persons with CF the time and physical and mental health to form romantic relationships. Previous studies have shown the importance of dyadic coping to positive psychosocial functioning and relationship satisfaction for people with serious chronic illness and their romantic partners, but little work has been done with persons with CF and their partners. The present study examines dyadic coping processes in persons with CF and their romantic partners. Sixteen adults with moderate to severe CF (Mage=42.3, 43.8% identified as cisgender male, 56.2% identified as cisgender female) and their romantic partners (Mage=43.8, 56.3% identified as cisgender male, 43.7% identified as cisgender female) participated in individual semi-structured interviews focused on topics related to quality of life, communication, and palliative care. We conducted a directed content analysis utilizing Berg and Upchurch's (2007) developmental-contextual theoretical model to examine dyadic coping processes in persons with CF and their romantic partners. Consistent with the developmental-contextual model of dyadic coping, couples described adapting to health and functional declines that occurred over time. Dyads were aligned in their appraisals of illness representation, illness ownership, and perspectives of illness as a shared stressor; they used shared coping mechanisms that included supportive and collaborative actions rather than uninvolved or controlling strategies. We recommend family-based approaches to medical decision-making and goals of care conversations with persons with CF and their partners, aligning those approaches with supportive and collaborative coping configurations. This may improve psychosocial outcomes for patients and their partners.

417-P: Functional Characterization of a Rare, Pathogenic Missense Variant Implicates FRAS1 as a Novel Gene for Risk of Progression to End-Stage Kidney Disease in Diabetes

Progressive renal decline is the central manifestation of diabetic nephropathy (DN) that ultimately leads to end-stage kidney disease (ESKD). Leveraging an innovative family-based approach that integrates electronic medical record data, a unique population-based genealogy resource, and next-generation sequencing, we recently identified a rare missense variant (p.R2516C, allele frequency=0.00002) in FRAS1, which encodes an extracellular matrix protein that regulates epidermal basement membrane adhesion and mediates glomerular integrity, in a family with diabetes and ESKD. While this rare missense variant is predicted to be deleterious (CADD score=32), whether this impacts FRAS1 function is unknown; here, we set out to assess the functional impact of this variant. To do so, we used CRISPR-Cas9 gene editing technology to generate 3 novel HEK293 cell lines (2 FRAS1 knock-in cell lines (a synonymous p.H2520H control cell line and a missense p.R2516C variant cell line) and a FRAS1 knock-out cell line) and performed in vitro cell migration and cell adhesion assays. Relative to the control cell line, both the FRAS1 knock-out cell line and the missense variant cell line displayed significantly inhibited cell migration (p = 1.54X10-13 and p = 5.05X10-5, respectively). Similarly, cell adhesion was significantly inhibited in cells in which FRAS1 was knocked out and in those carrying the p.R2516C variant compared to the control cell line (p = 6.72X10-9 and p = 6.63X10-6, respectively). Together, these data suggest that the FRAS1 p.R2516C variant negatively impacts FRAS1 function and further implicates this gene as having a potential role in the progression of ESKD in individuals with diabetes. Disclosure T.Chen: None. M.B.Neeley: None. J.M.Lazaro-guevara: None. M.Pezzolesi: None. C.A.Simeone: None. A.Rodan: None. W.L.Holland: Research Support; SymbioCellTech, LLC. M.G.Pezzolesi: Research Support; Renalytix. Funding National Institutes of Health (R01DK128641)

Behavioural outcomes of children exposed to antidepressants and unmedicated depression during pregnancy

BackgroundAntenatal exposure to both antidepressants and maternal depression has been associated with child behavioural difficulties. However, previous research has not adequately distinguished between the effects of the antidepressants and the underlying maternal depression. MethodsChild behavioural difficulties were assessed using the Strengths and Difficulties Questionnaire at 2-, 4.5-, and 8-years of age by mothers in the Growing Up in New Zealand study (N = 6233 at 2-years; N = 6066 at 4.5-years; N = 4632 at 8-years). Mothers were classified as either on antidepressants, unmedicated depression, or neither based on self-reported antidepressant intake during pregnancy and the Edinburgh Postnatal Depression Scale. Hierarchical multiple logistic regressions were used to examine whether antenatal exposure to antidepressants and unmedicated depression had a differential association with child behavioural outcomes relative to no exposure. ResultsWhen later life depression in the mother and a range of birth and sociodemographic variables were accounted for, neither antenatal exposure to unmedicated depression or antidepressants remained associated with an increased risk of behavioural difficulties at the ages investigated. However, maternal later life depression was associated with behavioural difficulties in the fully adjusted analyses at all three ages investigated. LimitationsThe current study relied on mother-report of child behaviour which may be susceptible to bias due to maternal mental health problems. ConclusionsAdjusted results did not show an adverse association between antenatal antidepressant exposure or unmedicated depression in relation to child behaviour. Findings also suggest that efforts to improve child behaviour need to include more family-based approaches that support maternal wellbeing.

Spousal multimorbidity and depressive symptoms among older Indian couples: Do one's own health status and sex matter?

With the aging population, increases in non-communicable diseases that require chronic management pose a substantial economic and social burden to individuals with multimorbid conditions and their spousal caregivers. However, little is known about the crossover effect of spousal multimorbidity on mental health outcomes in the context of low- and middle-income countries, and whether it depends on one's own health status and sex. We examined the association between spousal multimorbidity and depressive symptoms using data on 6,158 older couples (12,316 individuals aged 60years or above) from the Longitudinal Aging Study in India (LASI) 2017-18. Overall, 23.4% of the sample were multimorbid and 27.0% reported having depressive symptoms in the past week. Multivariable logistic regression models showed that spousal multimorbidity was associated with depressive symptoms, even after accounting for one's own multimorbidity status (OR: 1.23; 95% CI: 1.06-1.44). However, this association varied by sex. Among males, their own multimorbidity status was associated with 60% higher odds of having depressive symptoms (OR: 1.60; 95% CI: 1.28-2.00), but spousal multimorbidity was not. Furthermore, for males, the association between spousal multimorbidity and depressive symptoms was contingent upon the presence of their own multimorbidity. Among females, spousal multimorbidity was significantly associated with depressive symptoms, regardless of their own multimorbidity status. Our findings indicate that interventions to promote healthy aging should expand the formal caregiving system and consider family-based approaches to minimize the crossover health consequences of chronic morbidity in conjugal relationships, especially for females.

Child and adolescent obesity

The prevalence of child and adolescent obesity has plateaued at high levels in most high-income countries and is increasing in many low-income and middle-income countries. Obesity arises when a mix of genetic and epigenetic factors, behavioural risk patterns and broader environmental and sociocultural influences affect the two body weight regulation systems: energy homeostasis, including leptin and gastrointestinal tract signals, operating predominantly at an unconscious level, and cognitive-emotional control that is regulated by higher brain centres, operating at a conscious level. Health-related quality of life is reduced in those with obesity. Comorbidities of obesity, including type 2 diabetes mellitus, fatty liver disease and depression, are more likely in adolescents and in those with severe obesity. Treatment incorporates a respectful, stigma-free and family-based approach involving multiple components, and addresses dietary, physical activity, sedentary and sleep behaviours. In adolescents in particular, adjunctive therapies can be valuable, such as more intensive dietary therapies, pharmacotherapy and bariatric surgery. Prevention of obesity requires a whole-system approach and joined-up policy initiatives across government departments. Development and implementation of interventions to prevent paediatric obesity in children should focus on interventions that are feasible, effective and likely to reduce gaps in health inequalities.

Combined Dyslipidemia in Children and Adolescents: a Proposed New Management Approach.

Combined dyslipidemia (CD), the predominant abnormal lipid pattern in children and adolescents, is characterized by moderate/severe triglyceride elevation with reduced high-density lipoprotein cholesterol. CD is prevalent, present in 30-50% of obese adolescents. Epidemiologic and lipid sub-population findings demonstrate CD to be highly atherogenic. In the short term, CD responds well to lifestyle change; long-term results are lacking. Major longitudinal studies now confirm that CD in childhood predicts early cardiovascular disease events in adults. Targeted nutritional interventions can be safely and effectively introduced in young children. These findings support introduction of a new approach to CD management. New evidence supporting the atherosclerotic risk associated with CD and the effectiveness of lifelong diet interventions is reviewed and a new family-based primordial approach to CD beginning in infancy is proposed. Aligned with existing pediatric care recommendations, this has the potential to significantly decrease the development of CD.

Neurite outgrowth deficits caused by rare PLXNB1 mutation in pediatric bipolar disorder.

Pediatric bipolar disorder (PBD) is a severe mood dysregulation condition that affects 0.5-1% of children and teens in the United States. It is associated with recurrent episodes of mania and depression and an increased risk of suicidality. However, the genetics and neuropathology of PBD are largely unknown. Here, we used a combinatorial family-based approach to characterize cellular, molecular, genetic, and network-level deficits associated with PBD. We recruited a PBD patient and three unaffected family members from a family with a history of psychiatric illnesses. Using resting-state functional magnetic resonance imaging (rs-fMRI), we detected altered resting-state functional connectivity in the patient as compared to an unaffected sibling. Using transcriptomic profiling of patient and control induced pluripotent stem cell (iPSC)-derived telencephalic organoids, we found aberrant signaling in the molecular pathways related to neurite outgrowth. We corroborated the presence of neurite outgrowth deficits in patient iPSC-derived cortical neurons and identified a rare homozygous loss-of-function PLXNB1 variant (c.1360C>C; p.Ser454Arg) responsible for the deficits in the patient. Expression of wild-type PLXNB1, but not the variant, rescued neurite outgrowth in patient neurons, and expression of the variant caused the neurite outgrowth deficits in cortical neurons from PlxnB1 knockout mice. These results indicate that dysregulated PLXNB1 signaling may contribute to an increased risk of PBD and other mood dysregulation-related disorders by disrupting neurite outgrowth and functional brain connectivity. Overall, this study established and validated a novel family-based combinatorial approach for studying cellular and molecular deficits in psychiatric disorders and identified dysfunctional PLXNB1 signaling and neurite outgrowth as potential risk factors for PBD.

Ultrarare Missense Variants Implicated in Utah Pedigrees Multiply Affected With Schizophrenia

BackgroundRecent work from the Schizophrenia Exome Sequencing Meta-analysis (SCHEMA) consortium showed significant enrichment of ultrarare variants in schizophrenia cases. Family-based studies offer a unique opportunity to evaluate rare variants because risk in multiplex pedigrees is more likely to be influenced by the same collection of variants than an unrelated cohort. MethodsHere, we examine whole genome sequencing data from 35 individuals across 6 pedigrees multiply affected by schizophrenia. We applied a rigorous filtering pipeline to search for classes of protein-coding variants that cosegregated with disease status, and we examined these for evidence of enrichment in the SCHEMA dataset. Additionally, we applied a family-based consensus approach to call copy number variants and screen against a list of schizophrenia-associated risk variants. ResultsWe identified deleterious missense variants in 3 genes (ATP2B2, SLC25A28, and GSK3A) that cosegregated with disease in 3 of the pedigrees. In the SCHEMA, the gene ATP2B2 shows highly suggestive evidence for deleterious missense variants in schizophrenia cases (p = .000072). ATP2B2 is involved in intracellular calcium homeostasis, expressed in multiple brain tissue types, and predicted to be intolerant to loss-of-function and missense variants. ConclusionsWe have identified genes that are likely to increase schizophrenia risk in 3 of the 6 pedigrees examined, the strongest evidence being for a gene involved in calcium homeostasis. Further work is required to examine other classes of variants that may be contributing to disease burden.