Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

Whereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different variant types in a single gene, SATB1, cause clinically overlapping but distinct neurodevelopmental disorders. Clinical evaluation of 42 individuals carrying SATB1 variants identified overt genotype-phenotype relationships, associated with different pathophysiological mechanisms, established by functional assays. Missense variants in the CUT1 and CUT2 DNA-binding domains result in stronger chromatin binding, increased transcriptional repression, and a severe phenotype. In contrast, variants predicted to result in haploinsufficiency are associated with a milder clinical presentation. A similarly mild phenotype is observed for individuals with premature protein truncating variants that escape nonsense-mediated decay, which are transcriptionally active but mislocalized in the cell. Our results suggest that in-depth mutation-specific genotype-phenotype studies are essential to capture full disease complexity and to explain phenotypic variability.

Symptoms and Engagement in Anti-social Behavior 10 Years After Mild Traumatic Brain Injury Within a Community Civilian Sample: A Prospective Cohort Study With Age-Sex Matched Control Group.

OBJECTIVE: To determine if there are longer-term effects on symptoms, health status, mood, and behavior 10 years after a mild traumatic brain injury (mTBI). DESIGN: Prospective cohort study. SETTING: Community-based, civilian sample. PARTICIPANTS: Adults aged ≥16 years at follow-up who experienced an mTBI 10 years ago, and an age and sex-matched non-injured control group. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: mTBI cases and controls were asked to complete self-report assessments of functioning (WHO Disability Assessment Schedule Version 2), symptoms (Rivermead Post-Concussion Symptom Questionnaire), health status (100-point scale), alcohol (Alcohol Use Disorders Identification Test) and substance use (Alcohol, Smoking and Substance Involvement Screening Test), and whether they had engaged in any anti-social behaviors over the past 12 months. RESULTS: Data were analyzed for 368 participants (184 mTBI cases and 184 age-sex matched controls). Just over a third of mTBI cases (64, 34.8%) reported that they were still affected by their index mTBI 10 years later. After adjusting for education and ethnicity, the mTBI group had statistically higher overall symptom burden (F=22.32, P<.001, ηp2=0.07) compared with controls. This difference remained after excluding those who experienced a recurrent TBI. The mTBI group were more than 3 times as likely to have engaged in anti-social behavior during the previous 12 months (F=5.89, P=.02). There were no group differences in health status, functioning, or problematic alcohol or substance use 10 years post-injury. CONCLUSIONS: This study provides evidence of potential longer-term associations between mTBI, post-concussion symptoms, and anti-social behavior which warrants further evaluation. Future research should also examine if longer-term effects may be preventable with access to early rehabilitation post-injury.

Encephalocraniocutaneous Lipomatosis: A Case Report.

ABSTRACT: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome and subclassification of oculoectodermal syndrome. Encephalocraniocutaneous lipomatosis may be associated with postzygotic mutations. However, absence of an identifiable mutation does not preclude a diagnosis of ECCL. Encephalocraniocutaneous lipomatosis commonly causes skin, eye, and central nervous system anomalies. Diagnosis can be made through genetic sequencing or standardized clinical criteria. One clinically apparent major criterion for the diagnosis of ECCL is nevus psiloliparus (NP), a fatty nevus with overlying nonscarring alopecia. In this case, a 50-day-old female infant with uncomplicated birth history presented to dermatology clinic for evaluation of 2 superficial cranial masses that had been present since birth without regression or evolution. One of the masses was located within the hairline and demonstrated overlying nonscarring alopecia, suspicious of NP. Because of concern for ECCL, brain magnetic resonance imaging was ordered and revealed 2 intracranial lipomas. Genetic testing was inconclusive. Excision of the masses was performed at the request of the parents for cosmetic purposes. Histologic evaluation of the surgical specimens confirmed the diagnosis of NP and ECCL. A suspected NP should raise concern for ECCL and prompt further evaluation for systemic involvement. In particular, patients with suspected ECCL should be screened for ocular and CNS involvement. Early identification and diagnosis are important for prognostication because patients with ECCL are at increased risk of developing neoplasms of the head and neck and may require more frequent screening examinations.

Rare Congenital Upper Lip Pit.

Congenital lip pits are characterized by sinuses or fistulas in the lips that can occur in isolation or as part of a genetic disorder. A 6-year-old girl with a right upper lip lesion present at birth presented with recurrent swelling and occasional erythema. Examination revealed a mildly swollen punctum at the right upper wet/dry vermillion with expressible serous drainage. There were no other phenotypic or cognitive concerns. The lesion was surgically excised using vertical wedge resection. The postoperative course showed well well-healed incision. The pathology report confirmed a lip pit. The family was referred to genetics for further evaluation. Van der Woude syndrome (VWS) is a genetic disorder associated with abnormal development of the paramedian lip. Most congenital lip pits are primarily found on the lower lips, with paramedian lip pits being the most common. Upper lateral lip pits with or without accompanying lip pits are considerably rarer. Though VWS is commonly associated with mutations in the interferon regulatory factor 6 or grainyhead-like protein 3 genes, ~25% of affected individuals lack an identified genetic etiology. A high index of suspicion for VWS is warranted if lip pits are present in the absence of other phenotypic abnormalities and should prompt genetic testing for interferon regulatory factor 6 and grainyhead-like protein 3 mutations. Multidisciplinary teams should consider patient self-esteem, quality of life, and potential family planning when deciding on surgical intervention for lip pits. Surgical management of pits should entail tissue-preserving techniques such as vertical wedge resection and inverted T-lip reduction to prevent whistle-lip deformity.

Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.

Phelan-McDermid Syndrome (PMS) is caused by deletions at chromosome 22q13.3 or pathogenic/likely pathogenic SHANK3 variants. The clinical presentation is extremely variable and includes global developmental delay/intellectual disability (ID), seizures, neonatal hypotonia, and sleep disturbances, among others. This study investigated the prevalence of sleep disturbances, and the genetic and metabolic features associated with them, in a cohort of 56 individuals with PMS. Sleep data were collected via standardized observer/caregiver questionnaires, while genetic data from array-CGH and sequencing of 9 candidate genes within the 22q13.3 region, and metabolic profiling utilized the Biolog Phenotype Mammalian MicroArray plates. Sleep disturbances were present in 64.3% of individuals with PMS, with the most common problem being waking during the night (39%). Sleep disturbances were more prevalent in individuals with a SHANK3 pathogenic variant (89%) compared to subjects with 22q13.3 deletions of any size (59.6%). Distinct metabolic profiles for individuals with PMS with and without sleep disturbances were also identified. These data are helpful information for recognizing and managing sleep disturbances in individuals with PMS, outlining the main candidate gene for this neurological manifestation, and highlighting potential biomarkers for early identification of at-risk subjects and molecular targets for novel treatment approaches.

Early assessment of injury with optical markers in a piglet model of neonatal encephalopathy.

BACKGROUND: Opportunities for adjunct therapies with cooling in neonatal encephalopathy are imminent; however, robust biomarkers of early assessment are lacking. Using an optical platform of broadband near-infrared spectroscopy and diffuse correlation spectroscopy to directly measure mitochondrial metabolism (oxCCO), oxygenation (HbD), cerebral blood flow (CBF), we hypothesised optical indices early (1-h post insult) after hypoxia-ischaemia (HI) predicts insult severity and outcome. METHODS: Nineteen newborn large white piglets underwent continuous neuromonitoring as controls or following moderate or severe HI. Optical indices were expressed as mean semblance (phase difference) and coherence (spectral similarity) between signals using wavelet analysis. Outcome markers included the lactate/N-acetyl aspartate (Lac/NAA) ratio at 6 h on proton MRS and TUNEL cell count. RESULTS: CBF-HbD semblance (cerebrovascular dysfunction) correlated with BGT and white matter (WM) Lac/NAA (r2 = 0.46, p = 0.004, r2 = 0.45, p = 0.004, respectively), TUNEL cell count (r2 = 0.34, p = 0.02) and predicted both initial insult (r2 = 0.62, p = 0.002) and outcome group (r2 = 0.65 p = 0.003). oxCCO-HbD semblance (cerebral metabolic dysfunction) correlated with BGT and WM Lac/NAA (r2 = 0.34, p = 0.01 and r2 = 0.46, p = 0.002, respectively) and differentiated between outcome groups (r2 = 0.43, p = 0.01). CONCLUSION: Optical markers of both cerebral metabolic and vascular dysfunction 1 h after HI predicted injury severity and subsequent outcome in a pre-clinical model. IMPACT: This study highlights the possibility of using non-invasive optical biomarkers for early assessment of injury severity following neonatal encephalopathy, relating to the outcome. Continuous cot-side monitoring of these optical markers can be useful for disease stratification in the clinical population and for identifying infants who might benefit from future adjunct neuroprotective therapies beyond cooling.

Identifying socioeconomic and biophysical factors driving forest loss in protected areas.

Protected areas (PAs) are a commonly used strategy to confront forest conversion and biodiversity loss. Although determining drivers of forest loss is central to conservation success, understanding of them is limited by conventional modeling assumptions. We used random forest regression to evaluate potential drivers of deforestation in PAs in Mexico, while accounting for nonlinear relationships and higher order interactions underlying deforestation processes. Socioeconomic drivers (e.g., road density, human population density) and underlying biophysical conditions (e.g., precipitation, distance to water, elevation, slope) were stronger predictors of forest loss than PA characteristics, such as age, type, and management effectiveness. Within PA characteristics, variables reflecting collaborative and equitable management and PA size were the strongest predictors of forest loss, albeit with less explanatory power than socioeconomic and biophysical variables. In contrast to previously used methods, which typically have been based on the assumption of linear relationships, we found that the associations between most predictors and forest loss are nonlinear. Our results can inform decisions on the allocation of PA resources by strengthening management in PAs with the highest risk of deforestation and help preemptively protect key biodiversity areas that may be vulnerable to deforestation in the future.

Identificación de los factores biofísicos y socioeconómicos que impulsan la pérdida de bosques en las áreas protegidas Resumen Las áreas protegidas son una estrategia de uso común para hacer frente a la conversión forestal y la pérdida de biodiversidad. Aunque determinar los factores que impulsan la pérdida de bosques es fundamental para el éxito de la conservación, su comprensión se ve limitada por los supuestos de modelación convencionales. Utilizamos la regresión de bosques aleatorios para evaluar los posibles impulsores de la deforestación en las áreas protegidas de México, considerando las relaciones no lineales y las interacciones de orden superior que subyacen a los procesos de deforestación. Los impulsores socioeconómicos (densidad de carreteras, densidad de población humana) y las condiciones biofísicas subyacentes (precipitaciones, distancia al agua, elevación, pendiente) fueron predictores más fuertes de la pérdida de bosques que las características de las áreas protegidas, como la edad, el tipo y la efectividad de la gestión. Dentro de las características de las áreas protegidas, las variables que reflejan una gestión colaborativa y equitativa y el tamaño del área protegida fueron los predictores más potentes de la pérdida de bosques, aunque con menor poder explicativo que las variables socioeconómicas y biofísicas. A diferencia de los métodos utilizados anteriormente, que suelen basarse en el supuesto de relaciones lineales, observamos que las asociaciones entre la mayoría de los predictores y la pérdida de bosques no son lineales. Nuestros resultados pueden servir de base para la toma de decisiones sobre la asignación de los recursos para las áreas protegidas, reforzando la gestión en las zonas protegidas con mayor riesgo de deforestación y ayudando a proteger de forma preventiva zonas clave para la biodiversidad que pueden ser vulnerables a la deforestación en el futuro.

You only get one brain: adult reflections on coping and recovery after traumatic brain injury in adolescence.

BACKGROUND: TBI during adolescence can result in significant acute symptoms that can persist into adulthood. This research analyzed retrospective qualitative accounts of young adults who had sustained a TBI in adolescence to explore coping and recovery processes specific to this developmental stage. METHODS: Thirteen adults (aged 20-25 years; mean 23 years) who sustained a mild (n = 12) or moderate (n = 1) TBI during adolescence (aged 13-17 years at injury), approximately 7.7 years (range = 6.7-8.0 years) prior, participated. Semi-structured individual interviews, analyzed using thematic analysis, explored participants' experiences following their TBIs. RESULTS: Thematic data analysis produced two key categories of themes relating to recovery processes: (1) Individual factors impacting coping, with themes of learning to cope with difficulties, seeking acceptance and balance, and finding meaning; and (2) Social factors impacting coping, which included themes of feeling included, relying on family, professionals didn't get it, and lacking someone who understands. CONCLUSIONS: Recovery following TBI sustained during adolescence could be maximized by facilitating greater understanding of specific impacts on young people among clinicians and family, longer term monitoring of symptoms including emotional reactions to symptoms, and the provision of emotional support.

The Extracellular Vesicle Citrullinome and Signature in a Piglet Model of Neonatal Seizures.

Neonatal seizures are commonly associated with acute perinatal brain injury, while understanding regarding the downstream molecular pathways related to seizures remains unclear. Furthermore, effective treatment and reliable biomarkers are still lacking. Post-translational modifications can contribute to changes in protein function, and post-translational citrullination, which is caused by modification of arginine to citrulline via the calcium-mediated activation of the peptidylarginine deiminase (PAD) enzyme family, is being increasingly linked to neurological injury. Extracellular vesicles (EVs) are lipid-bilayer structures released from cells; they can be isolated from most body fluids and act as potential liquid biomarkers for disease conditions and response to treatment. As EVs carry a range of genetic and protein cargo that can be characteristic of pathological processes, the current study assessed modified citrullinated protein cargo in EVs isolated from plasma and CSF in a piglet neonatal seizure model, also following phenobarbitone treatment. Our findings provide novel insights into roles for PAD-mediated changes on EV signatures in neonatal seizures and highlight the potential of plasma- and CSF-EVs to monitor responses to treatment.

Water utility engagement in wildfire mitigation in watersheds in the western United States.

Scaling up climate-adaptation in wildfire-prone watersheds requires innovative partnerships and funding. Water utilities are one stakeholder group that could play a role in these efforts. The overarching purpose of this study was to understand water utility engagement in wildfire mitigation efforts in the western United States. We conducted an online survey of water utilities in nine states and received 173 useable responses. While most (68%) respondents were concerned or very concerned about future wildfire events and the impact of wildfire on their operations, only 39% perceived their organization as responsible for mitigating wildfire risk. Federal land ownership decreased feeling responsible for wildfire mitigation, while concern for and information on wildfire increased feeling responsible for mitigation. The perception of response efficacy of mitigation actions for the 68 water utilities engaged in wildfire risk mitigation activities was very high, with most agreeing that mitigation actions are effective. Self-efficacy to implement mitigation actions, however, was mixed, with most utilities wanting more information on wildfire risk and impacts to watershed services. The most reported wildfire mitigation actions were forest thinning and stream restoration. Water utilities engaging in these actions typically partnered with government agencies or other water utilities to complete the work and funded these activities through water user fees and grants. Our findings suggest that water utility engagement in wildfire mitigation for water security could be increased through providing more assessments of wildfire risk to water utilities and through more outreach and engagement with water utilities operating on federal lands.

Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures.

Phelan-McDermid syndrome (PMS) (OMIM*606232) is a rare genetic disorder characterized by intellectual disability, autistic features, speech delay, minor dysmorphia, and seizures. This study was conducted to investigate the prevalence of seizures and the association with genetic and metabolic features since there has been little research related to seizures in PMS. For 57 individuals, seizure data was collected from caregiver interviews, genetic data from existing cytogenetic records and Sanger sequencing for nine 22q13 genes, and metabolic profiling from the Phenotype Mammalian MicroArray (PM-M) developed by Biolog. Results showed that 46% of individuals had seizures with the most common type being absence and grand-mal seizures. Seizures were most prevalent in individuals with pathogenic SHANK3 mutations (70%), those with deletion sizes >4 Mb (16%), and those with deletion sizes <4 Mb (71%) suggesting involvement of genes in addition to SHANK3. Additionally, a 3 Mb genomic region on 22q13.31 containing the gene TBC1D22A, was found to be significantly associated with seizure prevalence. A distinct metabolic profile was identified for individuals with PMS with seizures and suggested among other features a disrupted utilization of main energy sources using Biolog plates. The results of this study will be helpful for clinicians and families in anticipating seizures in these children and for researchers to identify candidate genes for the seizure phenotype.

The role of prior sleep for divergent thinking in infants.

Higher-order cognitive functions seem particularly vulnerable to disruptions in prior sleep in school-aged children and adult populations. This study tested whether divergent thinking in infants varied as a function of prior sleep. Forty-three infants aged 13-16 months participated in a behavioural assessment of divergent thinking. Length of wakefulness since last sleep was experimentally manipulated. In addition, potential relations between divergent thinking and sleep quantity and quality during the night immediately before the assessment, as well as during three consecutive nights preceding the assessment, were examined using actigraphy recordings in combination with parent diaries. Divergent thinking was not impaired by lack of sleep within the previous 4 h. Divergent thinking was consistently related to night-time sleep quality and quantity prior to the assessment. These results suggest that timing of prior naturally occurring daytime sleep is less relevant for emergent divergent thinking capacity than quality and quantity of preceding night-time sleep.

Executive Functioning Predicts Adaptive Functioning and Self-Care Independence in Pediatric Sickle Cell Disease.

OBJECTIVE: This study examined the impact of executive functioning (EF) on adaptive functioning and self-care independence in pre-transition youth with sickle cell disease (SCD). METHODS: Thirty-four youth with SCD (ages 12-18 years) completed a brief neuropsychological battery and their caregivers completed questionnaires assessing adaptive functioning, EF behaviors, and independence in completing self-care tasks, including disease management. Hierarchical linear regression analyses were utilized to investigate if EF predicted significantly more variability in adaptive functioning and self-care independence than what is accounted for by socioeconomic status (SES), disease knowledge, and estimated intellectual functioning. RESULTS: Mean performance on standardized measures assessing working memory, processing speed, and EF skills fell in the low average range. Performance-based EF and caregiver-reported EF behaviors predicted variance in adaptive functioning and self-care independence above and beyond that accounted for by SES, disease knowledge, and intelligence, with moderate to large effect sizes. CONCLUSIONS: EF skills may support the ability of youth with SCD to adequately achieve independence in self-care, including medical self-care, and other adaptive skills, which may increase the likelihood of successful transition to young adulthood. These findings provide support for the role of neuropsychological screening and individualized intervention in interdisciplinary transition programs.

Impact and predictors of quality of life in adults diagnosed with a genetic muscle disorder: a nationwide population-based study.

OBJECTIVES: To determine the impact of genetic muscle disorders and identify the sociodemographic, illness, and symptom factors influencing quality of life. METHODS: Adults (aged 16-90 years) with a confirmed clinical or molecular diagnosis of a genetic muscle disorder identified as part of a nationwide prevalence study were invited to complete an assessment of the impact of their condition. Quality of life was measured using the World Health Organization Quality of Life questionnaire. Impact was measured via the prevalence of symptoms and comparisons of quality of life against New Zealand norms. Multivariate regression models were used to identify the most significant predictors of quality of life domains. RESULTS: 490/596 participants completed the assessment (82.2% consent rate). Quality of life was lower than the general population on physical (t = 9.37 p < 0.0001, d = 0.54) social (t = 2.27 p = 0.02, d = 0.13) and environmental domains (t = 2.28 p = 0.02, d = 0.13), although effect sizes were small. No difference was found on the psychological domain (t = - 1.17 p = 0.24, d = 0.07). Multivariate regression models (predicting 42%-64% of the variance) revealed personal factors (younger age, being in employment and in a relationship), symptoms (lower pain, fatigue, and sleep difficulties), physical health (no need for ventilation support, fewer activity limitations and no comorbidities), and psychosocial factors (lower depression, anxiety, behavioural dyscontrol and higher self-efficacy, satisfaction with health care and social support) contributed to improved quality of life. CONCLUSIONS: A range of factors influence the quality of life in adults diagnosed with a genetic muscle disorder and some may serve as targets for multi-faceted intervention.

Observed physical activity among Latinx and White men and women on a new urban trail.

OBJECTIVE: Despite efforts to increase physical activity through new green space infrastructure such as trails, disparities in physical activity may persist. The current study compared observed vigorous physical activity (VPA) engagement among White and Latinx men and women on a new urban trail, and whether engagement varied over time. DESIGN, SAMPLE, AND MEASURES: We used a modified System for Observing Play and Recreation in Communities (SOPARC) methodology to determine observed race/ethnicity, gender, and physical activity level of trail users (n = 15,109). RESULTS: Logistic regression analyses revealed the odds of engaging in VPA were lower for Latina women than all other population subgroups (vs. White men: OR 0.19, CI 0.17-0.22; vs. White women: OR 0.48, CI 0.42-0.54, vs. Latino men: OR 0.23, CI 0.19-0.26). VPA engagement by White and Latina women increased across the study years (OR 1.31, CI 1.17-1.46; OR 1.36, CI 1.08-1.71, respectively) but did not differ significantly by year for White and Latino men. CONCLUSION: Future efforts to address racial/ethnic-gender disparities in VPA should take an intersectional approach to ensure that the needs of the most vulnerable population subgroups are properly accounted for.

5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation.

PURPOSE: Nuclear receptor binding SET domain protein 1, NSD1, encodes a histone methyltransferase H3K36. NSD1 is responsible for the phenotype of the reciprocal 5q35.2q35.3 microdeletion-microduplication syndromes. We expand the phenotype and demonstrate the functional role of NSD1 in microduplication 5q35 syndrome. METHODS: Through an international collaboration, we report nine new patients, contributing to the emerging phenotype, highlighting psychiatric phenotypes in older affected individuals. Focusing specifically on the undergrowth phenotype, we have modeled the effects of Mes-4/NSD overexpression in Drosophila melanogaster. RESULTS: The individuals (including a family) from diverse backgrounds with duplications ranging in size from 0.6 to 4.5 Mb, have a consistent undergrowth phenotype. Mes-4 overexpression in the developing wing causes undergrowth, increased H3K36 methylation, and increased apoptosis. We demonstrate that altering the levels of insulin receptor (IR) rescues the apoptosis and the wing undergrowth phenotype, suggesting changes in mTOR pathway signaling. Leucine supplementation rescued Mes-4/NSD induced cell death, demonstrating decreased mTOR signaling caused by NSD1. CONCLUSION: Given that we show mTOR inhibition as a likely mechanism and amelioration of the phenotype by leucine supplementation in a fly model, we suggest further studies should evaluate the therapeutic potential of leucine or branched chain amino acids as an adjunct possible treatment to ameliorate human growth and psychiatric phenotypes and propose inclusion of 5q35-microduplication as part of the differential diagnosis for children and adults with delayed bone age, short stature, microcephaly, developmental delay, and psychiatric phenotypes.

Using internet search data to understand information seeking behavior for health and conservation topics during the COVID-19 pandemic.

Emerging zoonotic diseases, such as COVID-19, exist at the intersection of human health and the environment. Public interest and support are required to maximize the effectiveness of policies to combat the current pandemic and prevent future outbreaks of zoonoses. Here, we use internet search data from the United States to investigate changes in public information seeking about topics at the intersection of health and the environment during the COVID-19 pandemic. Using breakpoint detection methods, we identify sharp increases in interest for 'wildlife trade', 'bats', and 'pangolins' in the early stages of the pandemic (on Jan. 12, Jan. 19, and Jan. 26, 2020, respectively). Network analyses also revealed increasing connectivity between terms related to human health and the environment, as well as the emergence of novel search terms pointing to a greater interest in wildlife trade and consumption. During the pandemic, the network connectivity between coronavirus keywords and conservation keywords increased, which we measured using the number of unique connections (edge connectivity, k' (G)) and the number of simple paths (Sp) between keywords. Both measures of network connectivity increased between 'coronavirus' and 'bats' or 'pangolins' (Δk' (G) = 1, ΔSp = 37), and between 'coronavirus' and 'conservation' (Δk' (G) = 1, ΔSp = 160). These findings suggest that policy and outreach efforts aimed at engaging public interest in intersectional approaches to pandemic prevention (eg: One Health, Planetary Health), may be able to take advantage of increases in public information seeking following catalyzing events during the pandemic. Further monitoring is needed to determine if these changes persist over time.

Nutrition and physical activity interventions for the general population with and without cardiometabolic risk: a scoping review.

OBJECTIVE: The objective of this scoping review was to examine the research question: In the adults with or without cardiometabolic risk, what is the availability of literature examining interventions to improve or maintain nutrition and physical activity-related outcomes? Sub-topics included: (1) behaviour counseling or coaching from a dietitian/nutritionist or exercise practitioner, (2) mobile applications to improve nutrition and physical activity and (3) nutritional ergogenic aids. DESIGN: The current study is a scoping review. A literature search of the Medline Complete, CINAHL Complete, Cochrane Database of Systematic Reviews and other databases was conducted to identify articles published in the English language from January 2005 until May 2020. Data were synthesised using bubble charts and heat maps. SETTING: Out-patient, community and workplace. PARTICIPANTS: Adults with or without cardiometabolic risk factors living in economically developed countries. RESULTS: Searches resulted in 19 474 unique articles and 170 articles were included in this scoping review, including one guideline, thirty systematic reviews (SR), 134 randomised controlled trials and five non-randomised trials. Mobile applications (n 37) as well as ergogenic aids (n 87) have been addressed in several recent studies, including SR. While primary research has examined the effect of individual-level nutrition and physical activity counseling or coaching from a dietitian/nutritionist and/or exercise practitioner (n 48), interventions provided by these practitioners have not been recently synthesised in SR. CONCLUSION: SR of behaviour counseling or coaching provided by a dietitian/nutritionist and/or exercise practitioner are needed and can inform practice for practitioners working with individuals who are healthy or have cardiometabolic risk.

You only get one brain. Adult reflections on acute and ongoing symptom experiences after traumatic brain injury in adolescence.

BACKGROUND: This research adds to the scarce literature regarding adolescent experiences of traumatic brain injury (TBI). It uses a qualitative methodology to explore the symptoms experienced after sustaining a TBI at this unique stage of development including their persistence into adulthood. METHODS: Thirteen adults (aged 20-25 years; mean 23 years) who sustained a mild-moderate TBI during adolescence (aged 13-17 years at injury), approximately 7.7 years (range = 6.7-8.0 years) prior, participated in the research. Semi-structured individual interviews, analyzed using thematic analysis, explored participants' experiences surrounding and following their TBIs. RESULTS: TBI during adolescence can result in significant acute symptoms, particularly headaches, fatigue, and difficulties in thinking. Participants' descriptions of the extent and impact of these symptoms reflected feelings of frustration and often anxiety and/or depression. Difficulties could persist for years post-TBI and sometimes had not resolved at all. CONCLUSIONS: Even mild TBI during adolescence can result in significant acute and ongoing symptoms, which can contribute to emotional distress in the long term.

Psychosocial functioning at 4-years after pediatric mild traumatic brain injury.

Objective: Behavioral and emotional difficulties are reported following pediatric mild traumatic brain injury (TBI). But few studies have used a broad conceptual approach to examine children's long-term psychosocial outcomes. This study examines children's psychosocial outcomes at 4-years after mild TBI and associated factors.Methods: Parents of 93 children (<16 years) with mild TBI completed subscales of age-appropriate versions of the Strengths and Difficulties Questionnaire, the Behavior Rating Inventory of Executive Function, the Pediatric Quality of Life Inventory, and the Adolescent Scale of Participation questionnaire at 4-years post-injury.Results: Mean group-level scores were statistically significantly higher for hyperactivity/inattention and lower for emotional functioning than published norms. Levels of participation were greater compared to those observed in normative samples. More than 19% met published criteria for clinically significant hyperactivity/inattention, emotional functioning problems, peer relationship problems, and social functioning difficulties. Lower family socio-economic status and greater parental anxiety and depression were associated with overall psychosocial difficulties.Conclusions: Findings indicate that as a group, children with mild TBI are characterized by elevated rates of behavioral, emotional, and social difficulties at 4-years post-injury. Parent mental health may be an untapped opportunity to support children's psychosocial development following mild TBI, with replication required in larger samples.