| 1. |
- Björkman, Kristoffer, et al.
(författare)
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Clinical course of patients with single large-scale mtDNA deletions and childhood onset anemia
- 2022
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Ingår i: 14th European Paediatric Neurology Society Congress, Glasgow, UK (ISBN 978-3-00-072065-9).
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Objective: To add to our knowledge of the clinical spectrum of patients with single large-scale mitochondrial DNA (mtDNA) deletion and childhood onset anemia. Methods: Retrospective collection of clinical data from medical records for patients, both living and deceased, with a single large-scale mtDNA deletion from seven mitochondrial disease centers in five countries. Statistical analysis with descriptive methods and Kaplan-Meier survival analysis. Results: Seventeen patients matching the genetic criterium and with anemia onset before six years of age. Exocrine pancreatic insufficiency was only seen in five patients in this group. Multiple organs were involved in all patients, with the most common non-hematologic ones being skeletal muscle, central nervous system, endocrine, eyes, gastrointestinal system, kidneys, hearing, liver and heart. Psychomotor retardation was seen in ten patients, hearing impairment in nine patients, failure to thrive in eight patients. Eight later developed Kearns-Sayre syndrome. Eleven patients were deceased, with a median age at death of 7.5 years. Conclusions: The classically described phenotype of patients with large-scale mtDNA deletions and early onset anemia is Pearson marrow-pancreas syndrome, characterized by sideroblastic anemia and exocrine pancreas dysfunction. Only a minority of our patients fulfill the original criteria of Pearson syndrome though. Involvement of other organs than the pancreas is more common. The clinical course vary, but multi-system impact is the rule and life-expectancy is low. Early onset anemia in patients with large-scale mtDNA deletions is most frequently not associated with exocrine pancreas dysfunction. Better knowledge of the phenotype is helpful for diagnosis and more accurate prognosis.
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| 2. |
- Kahn, Robin, et al.
(författare)
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Population-based study of multisystem inflammatory syndrome associated with COVID-19 found that 36% of children had persistent symptoms
- 2022
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Ingår i: Acta Paediatrica, International Journal of Paediatrics. - : Wiley. - 0803-5253 .- 1651-2227. ; 111:2, s. 354-62
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Tidskriftsartikel (refereegranskat)abstract
- Aim: Our aim was to describe the outcomes of multisystem inflammatory syndrome in children (MIS-C) associated with COVID-19. Methods: This national, population-based, longitudinal, multicentre study used Swedish data that were prospectively collected between 1 December 2020 and 31 May 2021. All patients met the World Health Organization criteria for MIS-C. The outcomes 2 and 8weeks after diagnosis are presented, and follow-up protocols are suggested. Results: We identified 152 cases, and 133 (87%) participated. When followed up 2weeks after MIS-C was diagnosed, 43% of the 119 patients had abnormal results, including complete blood cell counts, platelet counts, albumin levels, electrocardiograms and echocardiograms. After 8weeks, 36% of 89 had an abnormal patient history, but clinical findings were uncommon. Echocardiogram results were abnormal in 5% of 67, and the most common complaint was fatigue. Older children and those who received intensive care were more likely to report symptoms and have abnormal cardiac results. Conclusion: More than a third (36%) of the patients had persistent symptoms 8weeks after MIS-C, and 5% had abnormal echocardiograms. Older age and higher levels of initial care appeared to be risk factors. Structured follow-up visits are important after MIS-C.
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| 3. |
- Socher, Michaela, et al.
(författare)
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Comparing the semantic networks of children with cochlear implants and children with typical hearing: Effects of length of language access
- 2022
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Ingår i: Journal of Communication Disorders. - : Elsevier. - 0021-9924 .- 1873-7994. ; 99
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Tidskriftsartikel (refereegranskat)abstract
- PurposeKenett et al. (2013) report that the sematic networks, measured by using an oral semantic fluency task, of children with cochlear implants (CI) are less structured compared to the sematic networks of children with typical hearing (TH). This study aims to evaluate if such differences are only evident if children with CI are compared to children with TH matched on chronological age, or also if they are compared to children with TH matched on hearing age.MethodThe performance of a group of children with CI on a verbal fluency task was compared to the performance of a group of chronological-age matched children with TH. Subsequently, computational network analysis was used to compare the semantic network structure of the groups. The same procedure was applied to compare a group of children with CI to a group of hearing-age matched children with TH.ResultsThe children with CI perform on the same level on an oral semantic verbal fluency task as the children with TH matched on hearing age. There are significant differences in terms of the structure of the semantic network between the groups. The magnitude of these differences is very small and they are non-significant for a proportion of nodes included in the bootstrap analysis. This indicates that there is no true difference between the networks. Hearing age, but not age at implantation was found to be significantly positively correlated with semantic verbal fluency performance for the children with CI.ConclusionsThe results from the current study indicate that length of language exposure is an important factor for the structure of the semantic network and the performance on a semantic verbal fluency task for children with CI. Further studies are needed to explore the role of the accessibility of the language input for the development of semantic networks of children with CI.
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| 4. |
- Hartvigsson, Olle, 1991, et al.
(författare)
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Differences between Arterial and Venous Umbilical Cord Plasma Metabolome and Association with Parity
- 2022
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Ingår i: Metabolites. - : MDPI AG. - 2218-1989 .- 2218-1989. ; 12:2
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Tidskriftsartikel (refereegranskat)abstract
- Umbilical cord blood is frequently used in health monitoring of the neonate. Results may be affected by the proportion of arterial and venous cord blood, the venous blood coming from the mother to supply oxygen and nutrients to the infant, and the arterial carrying waste products from the fetus. Here, we sampled arterial and venous umbilical cords separately from 48 newly delivered infants and examined plasma metabolomes using GC-MS/MS metabolomics. We investigated differences in metabolomes between arterial and venous blood and their associations with gestational length, birth weight, sex, and whether the baby was the first born or not, as well as maternal age and BMI. Using multilevel random forest analysis, a classification rate of 79% was achieved for arteriovenous differences (p = 0.004). Several monosaccharides had higher concentrations in the arterial cord plasma while amino acids were higher in venous plasma, suggesting that the main differences in the measured arterial and venous plasma metabolomes are related to amino acid and energy metabolism. Venous cord plasma metabolites related to energy metabolism were positively associated with parity (77% classification rate, p = 0.004) while arterial cord plasma metabolites were not. This underlines the importance of defining cord blood type for metabolomic studies.
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| 5. |
- Nakeva von Mentzer, Cecilia, 1968-, et al.
(författare)
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Intensive computer-based phonics training in the educational setting of children with Down syndrome : An explorative study
- 2021
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Ingår i: Journal of Intellectual Disabilities. - London : Sage Publications. - 1744-6295 .- 1744-6309. ; 25:4, s. 636-660
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Tidskriftsartikel (refereegranskat)abstract
- Children with Down syndrome (DS) using intensive computer-based phonics (GraphoGame, GG) were studied. The children's independence and improvement in phonological processing, letter knowledge, word decoding, and reading strategies were investigated. Seventeen children (5-16 years) with DS participated in a crossover design through 8 weeks (one period), with three test sessions separated by 4 weeks. Children were randomly assigned to GG intervention or regular schooling (RS). All children completed one period and eight children completed two periods. A majority gradually became independent in managing GG. At the group level, very little benefit was found from working with GG. At the individual level, several children with mild to severe intellectual disabilities showed increased decoding of trained words. After one period of GG and RS, an increase in alphabetically decoded words was found. The finding suggests that when individual challenges are considered, computer-based phonics may be beneficial for children with DS in their educational setting.
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| 6. |
- Berggren, Sara, 1987, et al.
(författare)
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Serum osteocalcin levels at 4months of age were associated with neurodevelopment at 4years of age in term-born children
- 2022
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Ingår i: Acta Paediatrica, International Journal of Paediatrics. - : Wiley. - 0803-5253 .- 1651-2227. ; 111:2, s. 338-345
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Tidskriftsartikel (refereegranskat)abstract
- Aim: The hormone osteocalcin influenced neurodevelopment and cognition in mice models; this human study explored potential associations between total serum levels in human infants and neurodevelopment at 4years of age. Methods: The data were based on two Swedish birth cohorts from 2008 to 2009. We followed 158healthy full-term vaginal births (51% girls) by measuring serum osteocalcin in cord blood and at 4, 12 and 36months. The values were compared with neurodevelopment tests at 4years of age. Results: There was an association between osteocalcin at 4months and later full-scale intelligence quotient (IQ; r2 0.031, p<0.05). Children with osteocalcin levels in the highest quartile scored 5.6 (95% confidence interval [1.3, 9.9]) points higher than those in the lowest quartile, with mean scores of 118.8±8.8 and 113.2±9.2 (p<0.05). They also scored higher on gross motor skills (p<0.05) and showed greater ability during the drawing trail test (p<0.005). Cord levels of osteocalcin were negatively associated with processing speed and fine motor development at 4years, but levels at 12 and 36months were not associated with later neurodevelopment. Conclusion: Osteocalcin levels in infancy appeared to be associated with later IQ and motor development, but more research is needed.
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| 7. |
- Johansson Kostenniemi, Urban, 1987-, et al.
(författare)
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MeningiSSS : A New Predictive Score to Support Decision on Invasive Procedures to Monitor or Manage the Intracerebral Pressure in Children with Bacterial Meningitis
- 2020
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Ingår i: Neurocritical Care. - : Springer. - 1541-6933 .- 1556-0961. ; 32:2, s. 586-595
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Tidskriftsartikel (refereegranskat)abstract
- Background: Knowing the individual child’s risk is highly useful when deciding on treatment strategies, especially when deciding on invasive procedures. In this study, we aimed to develop a new predictive score for children with bacterial meningitis and compare this with existing predictive scores and individual risk factors.Methods: We developed the Meningitis Swedish Survival Score (MeningiSSS) based on a previous systematic review of risk factors. From this, we selected risk factors identified in moderate-to-high-quality studies that could be assessed at admission to the hospital. Using data acquired from medical records of 101 children with bacterial meningitis, we tested the overall capabilities of the MeningiSSS compared with four existing predictive scores using a receiver operating characteristic curve (ROC) analysis to assert the area under the curve (AUC). Finally, we tested all predictive scores at their cut-off levels using a Chi-square test. As outcome, we used a small number of predefined outcomes; in-hospital mortality, 30-day mortality, occurrence of neurological disabilities at discharge defined as Pediatric Cerebral Performance Category Scale category two to five, any type of complications occurring during the hospital stay, use of intensive care, and use of invasive procedures to monitor or manage the intracerebral pressure.Results: For identifying children later undergoing invasive procedures to monitor or manage the intracerebral pressure, the MeningiSSS excelled in the ROC-analysis (AUC = 0.90) and also was the only predictive score able to identify all cases at its cut-off level (25 vs 0%, p < 0.01). For intensive care, the MeningiSSS (AUC = 0.79) and the Simple Luanda Scale (AUC = 0.75) had the best results in the ROC-analysis, whereas others performed less well (AUC ≤ 0.65). Finally, while none of the scores’ results were significantly associated with complications, an elevated score on the MeningiSSS (AUC = 0.70), Niklasson Scale (AUC = 0.72), and the Herson–Todd Scale (AUC = 0.79) was all associated with death.Conclusions: The MeningiSSS outperformed existing predictive scores at identifying children later having to undergo invasive procedures to monitor or manage the intracerebral pressure in children with bacterial meningitis. Our results need further external validation before use in clinical practice. Thus, the MeningiSSS could potentially be helpful when making difficult decisions concerning intracerebral pressure management.
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| 8. |
- Orfanos, Ioannis, et al.
(författare)
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Paediatric emergency departments should manage young febrile and afebrile infants the same if they have a fever before presenting
- 2022
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Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 111:10
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Tidskriftsartikel (refereegranskat)abstract
- Aim Our aim was to evaluate the risk of bacterial meningitis, bacteremia, and urinary tract infection (UTI) in infants <= 60 days who presented to paediatric emergency departments (PEDs) after having fever at home. We also investigated any differences between infants who were afebrile or febrile on presentation. Methods This was a multicenter retrospective study of infants <= 60 days presented to four Swedish PEDs during 2014-2020 with reported fever at home. We used relative risks (RR) to compare the prevalence of UTI, bacteremia, and bacterial meningitis between the infants who were afebrile and the infants who were still febrile when they presented to the PED. Results The cohort comprised 1926 infants, and 702 (36%) were afebrile on presentation. The prevalence of UTI in the afebrile and febrile infants was 6.1% [95% confidence interval (CI) 4.5-8.2] versus 14.2% (95% CI 12.3-16.2), corresponding to an RR of 0.43 (95% CI 0.31-0.59). In infants <= 28 days, the RR for meningitis was 1.05 (95% CI 0.18-6.23) for afebrile versus febrile infants. Five times more febrile infants underwent a lumbar puncture. Conclusion Infants who were afebrile on presentation underwent fewer lumbar punctures, but they had similar rates of bacterial meningitis to febrile infants. Different management approaches are not justified.
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| 9. |
- Pivodic, Aldina, 1978, et al.
(författare)
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Individual Risk Prediction for Sight-Threatening Retinopathy of Prematurity Using Birth Characteristics
- 2020
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Ingår i: JAMA Ophthalmology. - : American Medical Association (AMA). - 2168-6165 .- 2168-6173. ; 138:1, s. 21-29
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Tidskriftsartikel (refereegranskat)abstract
- Importance: To prevent blindness, repeated infant eye examinations are performed to detect severe retinopathy of prematurity (ROP), yet only a small fraction of those screened need treatment. Early individual risk stratification would improve screening timing and efficiency and potentially reduce the risk of blindness. Objectives: To create and validate an easy-to-use prediction model using only birth characteristics and to describe a continuous hazard function for ROP treatment. Design, Setting, and Participants: In this retrospective cohort study, Swedish National Patient Registry data from infants screened for ROP (born between January 1, 2007, and August 7, 2018) were analyzed with Poisson regression for time-varying data (postnatal age, gestational age [GA], sex, birth weight, and important interactions) to develop an individualized predictive model for ROP treatment (called DIGIROP-Birth [Digital ROP]). The model was validated internally and externally (in US and European cohorts) and compared with 4 published prediction models. Main Outcomes and Measures: The study outcome was ROP treatment. The measures were estimated momentary and cumulative risks, hazard ratios with 95% CIs, area under the receiver operating characteristic curve (hereinafter referred to as AUC), sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). Results: Among 7609 infants (54.6% boys; mean [SD] GA, 28.1 [2.1] weeks; mean [SD] birth weight, 1119 [353] g), 442 (5.8%) were treated for ROP, including 142 (40.1%) treated of 354 born at less than 24 gestational weeks. Irrespective of GA, the risk for receiving ROP treatment increased during postnatal weeks 8 through 12 and decreased thereafter. Validations of DIGIROP-Birth for 24 to 30 weeks' GA showed high predictive ability for the model overall (AUC, 0.90 [95% CI, 0.89-0.92] for internal validation, 0.94 [95% CI, 0.90-0.98] for temporal validation, 0.87 [95% CI, 0.84-0.89] for US external validation, and 0.90 [95% CI, 0.85-0.95] for European external validation) by calendar periods and by race/ethnicity. The sensitivity, specificity, PPV, and NPV were numerically at least as high as those obtained from CHOP-ROP (Children's Hospital of Philadelphia-ROP), OMA-ROP (Omaha-ROP), WINROP (weight, insulinlike growth factor 1, neonatal, ROP), and CO-ROP (Colorado-ROP), models requiring more complex postnatal data. Conclusions and Relevance: This study validated an individualized prediction model for infants born at 24 to 30 weeks' GA, enabling early risk prediction of ROP treatment based on birth characteristics data. Postnatal age rather than postmenstrual age was a better predictive variable for the temporal risk of ROP treatment. The model is an accessible online application that appears to be generalizable and to have at least as good test statistics as other models requiring longitudinal neonatal data not always readily available to ophthalmologists.
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| 10. |
- Steen Carlsson, Katarina, et al.
(författare)
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Pain, depression and anxiety in people with haemophilia from three Nordic countries: Cross-sectional survey data from the MIND study
- 2022
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Ingår i: Haemophilia. - : Wiley. - 1351-8216 .- 1365-2516. ; 28:4, s. 557-567
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Tidskriftsartikel (refereegranskat)abstract
- Introduction People with haemophilia (PwH) may experience symptoms of haemophilia-related pain, depression or anxiety, which can negatively impact health-related quality of life. Aim To obtain the perspective of PwH and treaters from Sweden, Finland and Denmark on the management of haemophilia-related pain, depression and anxiety using cross-sectional survey data from the MIND study (NCT03276130). Methods PwH or their caregivers completed a survey about experiences of pain, depression and anxiety related to haemophilia, and the standard EQ-5D-5L instrument. Five investigators at haemophilia treatment centres (HTC) were sent a complementary survey containing questions about the management of pain and depression/anxiety. Results There were 343 PwH (mild: 103; moderate: 53; severe: 180; seven lacking severity information) and 71 caregiver responses. Experience of pain in the last 6 months was reported by 50% of PwH respondents and 46% of caregiver respondents. Anxiety/depression was reported by 28% of PwH respondents. Reporting of pain and anxiety/depression was associated with disease severity. Whilst 62% of PwH who had experienced pain at any time point (n = 242) felt this was adequately addressed and treated at their HTC, only 24% of those who had experienced depression/anxiety (n = 127) felt this was adequately addressed. Disease severity was negatively associated with EQ-5D-5L utility value (p < .001). In the HTC survey, 4/5 and 2/5 agreed that pain and depression/anxiety, respectively, are adequately addressed. Conclusions Pain and depression/anxiety occur more frequently with increasing haemophilia severity, with negative impacts on health-related quality of life. PwH with depression/anxiety or unaddressed pain could benefit from improved management strategies.
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