scholarly journals Predictors of cognitive, behavioural and academic difficulties in NF1

BJPsych Open ◽  
2021 ◽  
Vol 7 (S1) ◽  
pp. S243-S243
Author(s):  
Kavitha Chinnappa Ramamurthy ◽  
Marie-Maude Geoffray ◽  
Louise Robinson ◽  
Lauren Manderson ◽  
Julieta O'Flaherty ◽  
...  

AimsThe aim of this study is to systematically investigate the demographic and disease predictors of cognitive and behavioural phenotype in the largest cohort of children with NF1 published to date. Based on previously published research, we examine the potential role of demographic predictors such as age, sex, SES, parental NF1 status as well as the neurological complications such as epilepsy and brain tumours in NF1 associated cognitive/ behavioural impairments.MethodIn this cross-sectional study design, participant data were drawn from two large databases which included (i) A clinical database of all patients with NF1 seen in a clinical psychological service from 2010 to 2019 and (ii) A research dataset from two previously published studies (2,8). The complex National NF1 service based within Manchester regional genetic services is set up for individuals with complex NF1 (https://www.mangen.co.uk/healthcare-professionals/clinical-genomic-services/nf1/) in the North of the UK. Children were referred to the psychological services by NF1 clinicians if psychological assessment was warranted based on parental reports. In order to reduce clinic referral bias, the clinical sample was supplemented by including participants that were seen solely for the purposes of research studies within our centre.ResultRelative to population norms, 90% of the NF1 sample demonstrated significantly lower scores in at least one cognitive or behavioral domain. Family history of NF1 and lower SES were independently associated with poorer cognitive, behavioral and academic outcomes. Neurological problems such as epilepsy and hydrocephalus were associated with lower IQ and academic skills.ConclusionCognitive and behavioural phenotypes commonly emerge via a complex interplay between genes and environmental factors, and this is true also of a monogenic condition such as NF1. Early interventions and remedial education may be targeted to risk groups such those with familial NF1, families with lower SES and those with associated neurological comorbidities.

2018 ◽  
Vol 182 (10) ◽  
pp. 293-293 ◽  
Author(s):  
Joseph William Angell ◽  
Dai H Grove-White ◽  
Jennifer S Duncan

Footrot is an ovine foot disease of infectious origin and a cause of serious welfare and economic compromise in affected animals and flocks. The development of footrot in sheep is associated with the infectious agent Dichelobacter nodosus, which may invade as a primary pathogen, but the risk of disease is increased following damage to the interdigital skin of the foot. In this study, we used data from six farms in North Wales collected between June 2012 and October 2013 to model the dynamic changes of footrot prevalence over time and investigate the association of footrot with multiple farm, management, environmental and sheep factors. Footrot prevalence varied widely within and between farms and overall varied with season with an increase in prevalence shown in late summer and again in the spring. In addition, sheep were more likely to have footrot when the flock size was larger, when grazing poached pasture or when grazing a longer sward, and yearling sheep were less likely to have footrot when compared with lambs and adult sheep. These data may be helpful for advising farmers of likely environmental events, risk groups and management practices that may increase the probability of sheep developing footrot.


2019 ◽  
Vol 11 (7) ◽  
pp. 282-292
Author(s):  
Karen Critchley ◽  
Zara Quigg

Background: Injuries are a leading cause of death and ill health in children. Aims: To explore the potential utility of ambulance call-out data in understanding the burden and characteristics of child injury. Methods: A cross-sectional examination was carried out of injury-related ambulance callouts to children aged 0–14 years in the north west of England between April 2016 and March 2017. Findings: The majority of the 16 285 call-outs were for unintentional injuries (91.4%), with falls the most prevalent injury type (38.4%). The incidence of child injury ambulance call-outs peaked at age 1 year (233.4 per 10 000 population). Burns in children aged 5–9 years were significantly higher at weekends (P=0.003) and on celebration days (P=0.001); poisoning in 10–14 year-olds was significantly higher at weekends (P=0.001); and traffic injuries were significantly lower at weekends in 0–4 year-olds (P=0.009) and 10–14 year-olds (P=0.003). Conclusion: Ambulance call-out data can provide epidemiological support in examining the characteristics of child injury and identifying at-risk groups.


Author(s):  
Kristen R. Choi ◽  
Tatum Stewart ◽  
Jewel D. Davies ◽  
Sara Naureckas ◽  
Angela Venegas-Murillo ◽  
...  

AbstractThe purpose of this study was to describe exposure to within-household and community adverse childhood experiences (ACEs) and to identify child- and parent-level factors associated with exposure to different kinds of ACEs. This cross-sectional study used a clinical sample of 257 Black and Hispanic children ages 3–16 years and their caregivers who were seeking care at two federally qualified health centers in Chicago, Illinois and screened positive for a behavioral health problem. The sample had high levels of within-household ACEs (76% reported at least one) and community ACEs (71% reported at least one). Black children experienced more overall and within-household ACEs than Hispanic children, including forced separation from a caregiver and family member incarceration. Hispanic children experienced more bullying and violent media exposure. Significant associations to all categories of ACEs were observed for depression, child behavioral problems, and older child age. Tailored assessment of ACEs and interventions such as trauma-informed care are needed in pediatric clinical settings, including assessment of ACEs children in experience in communities.


2021 ◽  
Vol 10 (11) ◽  
pp. 2344
Author(s):  
Franca Genest ◽  
Dominik Rak ◽  
Elisa Bätz ◽  
Kerstin Ott ◽  
Lothar Seefried

Sarcopenia and malnutrition are important determinants of increased fracture risk in osteoporosis. SARC-F and MNA-SF are well-established questionnaires for identifying patients at risk for these conditions. We sought to evaluate the feasibility and potential added benefit of such assessments as well as the actual prevalence of these conditions in osteoporosis patients. We conducted a cross-sectional, single-center study in female osteoporosis patients ≥ 65 years (SaNSiBaR-study). Results of the sarcopenia (SARC-F) and malnutrition (MNA-SF) screening questionnaires were matched with a functional assessment for sarcopenia and data from patients’ medical records. Out of 107 patients included in the analysis, a risk for sarcopenia (SARC-F ≥ 4 points) and a risk for malnutrition (MNA-SF ≤ 11 points) was found in 33 (30.8%) and 38 (35.5%) patients, respectively. Diagnostic overlap with coincident indicative findings in both questionnaires was observed in 17 patients (16%). As compared to the respective not-at-risk groups, the mean short physical performance battery (SPPB) score was significantly reduced in both patients at risk for sarcopenia (7.0 vs. 10.9 points, p < 0.001) and patients at risk for malnutrition (8.7 vs. 10.5 points, p = 0.005). Still, confirmed sarcopenia according to EWGSOP2 criteria was present in only 6 (6%) of all 107 patients, with only 3 of them having an indicative SARC-F score. Bone mineral density was not significantly different in any of the at-risk groups at any site. In summary, applying SARC-F and MNA-SF in osteoporosis patients appears to be a complementary approach to identify individuals with functional deficits.


2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
B L O Luizeti ◽  
E M M Massuda ◽  
L F G Garcia

Abstract In view of the national scenario of scarcity of material and human resources in public health in Brazil, the survey verified the demographics of doctors who attend the Unified Health System (SUS) in municipalities of extreme poverty. An observational, analytical and cross-sectional study was carried out, based on secondary quantitative data from the Department of Informatics of the SUS using the TABNET of December 2019. The care networks variable was restricted to infer the number of physicians who attend the SUS in extreme poverty municipalities in Brazil. Municipalities of extreme poverty are those that at least 20% of the population have a household income of up to 145 reais per capita monthly. In Brazil, there are 1526 municipalities in extreme poverty, 27.4% of the country's total municipalities. 14,907 doctors linked to SUS work in this condition, 3.19% of the total of these professionals in Brazil. There is still disproportion between regions: North concentrates 11.2% of the municipalities in extreme poverty and 8.61% of the total number of doctors; Northeast, with 61.33% of these municipalities, for 61.5% of doctors; Southeast, with 15.46% of the municipalities in this condition, has 20.6% of doctors; South concentrates 10.87% of the municipalities under discussion with 5.61% of doctors and the Midwest, with 4.87% of these municipalities, has 3.54% of doctors. Between 2009 and 2018, there was a 39% increase in the number of doctors in these locations, however, for 2019, there was a decrease of 3.89%. The medical demographic distribution in Brazil is uneven, especially in the North. There is also the vulnerability of this population in view of the observed reduction in the number of professionals between 2018 and 2019 in municipalities of extreme poverty, for political reasons. It is evident the need to restructure the health system to guarantee access to health for this population, through the attraction and fixation of doctors in needy regions in Brazil. Key messages Shortage of doctors in extreme poverty municipalities reinforces the health vulnerability of the population in Brazil. The uneven medical demography in Brazil requires restructuring in the public health system.


2021 ◽  
Vol 10 (2) ◽  
pp. 274
Author(s):  
Aline P. Vellozo ◽  
Leonardo F. Fontenelle ◽  
Ricardo C. Torresan ◽  
Roseli G. Shavitt ◽  
Ygor A. Ferrão ◽  
...  

Background: Obsessive–compulsive disorder (OCD) is a very heterogeneous condition that frequently includes symptoms of the “symmetry dimension” (i.e., obsessions and/or compulsions of symmetry, ordering, repetition, and counting), along with aggressive, sexual/religious, contamination/cleaning, and hoarding dimensions. Methods: This cross-sectional study aimed to investigate the prevalence, severity, and demographic and clinical correlates of the symmetry dimension among 1001 outpatients from the Brazilian Research Consortium on Obsessive–Compulsive Spectrum Disorders. The main assessment instruments used were the Dimensional Yale–Brown Obsessive–Compulsive Scale, the Yale–Brown Obsessive–Compulsive Scale, the USP-Sensory Phenomena Scale, the Beck Depression and Anxiety Inventories, the Brown Assessment of Beliefs Scale, and the Structured Clinical Interview for DSM-IV Axis I Disorders. Chi-square tests, Fisher’s exact tests, Student’s t-tests, and Mann–Whitney tests were used in the bivariate analyses to compare patients with and without symptoms of the symmetry dimension. Odds ratios (ORs) with confidence intervals and Cohen’s D were also calculated as effect size measures. Finally, a logistic regression was performed to control for confounders. Results: The symmetry dimension was highly prevalent (86.8%) in this large clinical sample and, in the logistic regression, it remained associated with earlier onset of obsessive–compulsive symptoms, insidious onset of compulsions, more severe depressive symptoms, and presence of sensory phenomena. Conclusions: A deeper knowledge about specific OCD dimensions is essential for a better understanding and management of this complex and multifaceted disorder.


2010 ◽  
Vol 16 (12) ◽  
pp. 1422-1431 ◽  
Author(s):  
Bruce V Taylor ◽  
John F Pearson ◽  
Glynnis Clarke ◽  
Deborah F Mason ◽  
David A Abernethy ◽  
...  

Background: The prevalence of multiple sclerosis (MS) is not uniform, with a latitudinal gradient of prevalence present in most studies. Understanding the drivers of this gradient may allow a better understanding of the environmental factors involved in MS pathogenesis. Method: The New Zealand national MS prevalence study (NZMSPS) is a cross-sectional study of people with definite MS (DMS) (McDonald criteria 2005) resident in New Zealand on census night, 7 March 2006, utilizing multiple sources of notification. Capture—recapture analysis (CRA) was used to estimate missing cases. Results: Of 2917 people with DMS identified, the crude prevalence was 72.4 per 100,000 population, and 73.1 per 100,000 when age-standardized to the European population. CRA estimated that 96.7% of cases were identified. A latitudinal gradient was seen with MS prevalence increasing three-fold from the North (35°S) to the South (48°S). The gradient was non-uniform; females with relapsing—remitting/secondary-progressive (RRMS/SPMS) disease have a gradient 11 times greater than males with primary-progressive MS ( p < 1 × 10-7). DMS was significantly less common among those of Māori ethnicity. Conclusions: This study confirms the presence of a robust latitudinal gradient of MS prevalence in New Zealand. This gradient is largely driven by European females with the RRMS/SPMS phenotype. These results indicate that the environmental factors that underlie the latitudinal gradient act differentially by gender, ethnicity and MS phenotype. A better understanding of these factors may allow more targeted MS therapies aimed at modifiable environmental triggers at the population level.


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