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- Kalinowski, A., et al.
(författare)
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Evaluation of C4 gene copy number in Pediatric Acute Neuropsychiatric Syndrome
- 2023
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Ingår i: Developmental Neuroscience. - 0378-5866. ; 45:6, s. 315-324
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Tidskriftsartikel (refereegranskat)abstract
- Pediatric Acute-onset Neuropsychiatric Syndrome (PANS) is an abrupt-onset neuropsychiatric disorder. PANS patients have an increased prevalence of co-morbid autoimmune illness, most commonly arthritis. In addition, an estimated one-third of PANS patients present with low serum C4 protein, suggesting decreased production or increased consumption of C4 protein. To test the possibility that copy number (CN) variation contributes to risk of PANS illness, we compared mean total C4A and total C4B CN in ethnically-matched subjects from PANS DNA samples and controls (192 cases and 182 controls). Longitudinal data from the Stanford PANS cohort (n = 121) was used to assess whether the time to Juvenile Idiopathic Arthritis (JIA) or Autoimmune Disease (AI) onset was a function of total C4A or C4B. Lastly, we performed several hypothesis-generating analyses to explore the correlation between individual C4 gene variants, sex, specific genotypes and age of PANS onset. Although the mean total C4A or C4B CN did not differ in PANS compared to controls, PANS patients with low C4B CN were at increased risk for subsequent JIA diagnosis (Hazard Ratio = 2 7, p-value = 0 004). We also observed a possible increase in risk for AI in PANS patients and a possible correlation between lower C4B and PANS age of onset. An association between rheumatoid arthritis and low C4B CN has been reported previously. However, patients with PANS develop different types of JIA: enthesitis-related arthritis, spondyloarthritis and psoriatic arthritis. This suggests that C4B plays a role that spans these arthritis types.
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- Andersson, G-B, et al.
(författare)
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Children with surgically corrected hand deformities and upper limb deficiencies: self-concept and psychological well-being.
- 2011
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Ingår i: The Journal of Hand Surgery, European Volume. - : SAGE Publications. - 0266-7681. ; 36:9, s. 795-801
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Tidskriftsartikel (refereegranskat)abstract
- We studied self-concept and psychological well-being in children with hand deformities and upper limb deficiencies. Ninety-two children, 53 boys, 39 girls, aged 9-11 years were included. The children were divided into two subgroups - one with milder (less visible) deformities and one with severe (more complex and visible) finger-hand-arm deformities. Of the 92 children, 79 had received reconstructive surgery, and 13 had been treated with prostheses. The Piers-Harris Children's Self-Concept Scale (PHCSCS) was used to measure self-esteem and well-being. Overall PHCSCS scores showed that the whole hand deformity group had 'good' self-concept with mean scores in excess of 60 points, equal to a comparison group of healthy children. Within the hand deformity group, those with mild deformities had lower scores than those with severe deformities. This result was also found in the group of boys but not in the girls. The children with severe deformities had even higher scores than the comparison group regarding the subscale 'Intellectual and School Status'. The children with milder deformities had lower scores than the comparison group regarding the subscale 'Popularity'.
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- Ek, Ulla, et al.
(författare)
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Academic performance of adolescents with ADHD and other behavioural and learning problems : a population-based longitudinal study
- 2011
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Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 100:3, s. 402-406
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Tidskriftsartikel (refereegranskat)abstract
- Aim: To study academic performance (final grades at the age of 16 years) in individuals with i) attention-deficit/hyperactivity disorder (ADHD) and ii) other learning and/or behavioural problems. Methods: Of a total population of 591 children, originally assessed at the age of 10-11 years, it was possible to obtain final grades for 536 16-year-olds (in grade 9). Those fulfilling the criteria for ADHD/sub-threshold ADHD (n=39) and those with 'Behaviour and Learning Problems' (BLP group), (n=80) and a comparison group (n=417) were contrasted. Results: The ADHD and BLP groups had a significantly lower total mean grade at the age of 16 years than the comparison group. In addition, the ADHD and BLP groups also qualified for further studies in the upper secondary school to a significantly lesser extent than the controls (72%, 68% and 92%, respectively). All IQ measures (at the age of 10-11 years) were positively correlated with the overall grade after grade 9, with especially strong correlations for verbal capacity. Conclusion: ADHD and similar problems entail a risk of underachievement at school. The results indicate that pupils with ADHD underachieve in the school situation in relation to their optimal cognitive capacity. The contextual situation and the particular requirements should be considered in order for adequate educational measures to be undertaken.
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