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Träfflista för sökning "WFRF:(Poustka L) ;pers:(Bolte S)"

Search: WFRF:(Poustka L) > Bolte S

  • Result 1-10 of 19
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1.
  • Weiner, D. J., et al. (author)
  • Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
  • 2017
  • In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 49:7
  • Journal article (peer-reviewed)abstract
    • Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, we show that polygenic risk for ASD, schizophrenia, and greater educational attainment is over-transmitted to children with ASD. These findings hold independent of proband IQ. We find that polygenic variation contributes additively to risk in ASD cases who carry a strongly acting de novo variant. Lastly, we show that elements of polygenic risk are independent and differ in their relationship with phenotype. These results confirm that the genetic influences on ASD are additive and suggest that they create risk through at least partially distinct etiologic pathways.
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2.
  • Anney, R. J. L., et al. (author)
  • Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
  • 2017
  • In: Molecular Autism. - : Springer Science and Business Media LLC. - 2040-2392. ; 8
  • Journal article (peer-reviewed)abstract
    • Background: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) < 1.15). Methods: We conducted a large-scale coordinated international collaboration to combine independent genotyping data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls). Results: We observe a GWS locus at 10q24.32 that overlaps several genes including PITX3, which encodes a transcription factor identified as playing a role in neuronal differentiation and CUEDC2 previously reported to be associated with social skills in an independent population cohort. We also observe overlap with regions previously implicated in schizophrenia which was further supported by a strong genetic correlation between these disorders (Rg = 0.23; P= 9 x10(-6)). We further combined these Psychiatric Genomics Consortium (PGC) ASD GWAS data with the recent PGC schizophrenia GWAS to identify additional regions which may be important in a common neurodevelopmental phenotype and identified 12 novel GWS loci. These include loci previously implicated in ASD such as FOXP1 at 3p13, ATP2B2 at 3p25.3, and a 'neurodevelopmental hub' on chromosome 8p11.23. Conclusions: This study is an important step in the ongoing endeavour to identify the loci which underpin the common variant signal in ASD. In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental- related genes such as EXT1, ASTN2, MACROD2, and HDAC4.
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  • Holtmann, M, et al. (author)
  • Neurofeedback in autism spectrum disorders
  • 2011
  • In: Developmental medicine and child neurology. - : Wiley. - 1469-8749 .- 0012-1622. ; 53:11, s. 986-993
  • Journal article (peer-reviewed)
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8.
  • Holtmann, M, et al. (author)
  • Severe affective and behavioral dysregulation in youths is associated with a proinflammatory state
  • 2013
  • In: Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie. - : Hogrefe Publishing Group. - 1422-4917 .- 1664-2880. ; 41:6, s. 393-399
  • Journal article (peer-reviewed)abstract
    • Objective: A heritable behavioral phenotype, the so-called Dysregulation Profile (DP), characterized by extreme scores on the syndrome scales Anxious/Depressed (A/D), Attention Problems (AP), and Aggressive Behavior (AGG), has been identified on the Child Behavior Checklist (CBCL). It characterizes children with severe affective and behavioral dysregulation. The present study examined possible alterations of the inflammatory system in CBCL-DP using a clinical sample of n = 133 children and adolescents. Method: Participants with the CBCL-DP scoring ≥ 2.5 SDs above average constituted the CBCL-DP subgroup (n = 51). Those with CBCL-DP scores of 1 SD or less above average were regarded as controls (n = 82). Groups were compared in terms of serum levels of C-reactive protein (CRP) and albumin. Results: Participants showing the CBCL-DP exhibited increased CRP and decreased albumin levels compared to controls. CRP was correlated with AGG, AP, and the CBCL-DP total score. A negative correlation was observed between albumin and AGG, AP, the CBCL-DP score, and A/D. These associations could not be attributed to differences in age, sex, weight, socioeconomic status, global functioning, or duration of illness. Conclusions: This is the first study to demonstrate associations between the CBCL-DP and a proinflammatory state. Limitations include the lack of a healthy control group, the use of a single measurement of inflammatory markers, and the lack of follow-up data. Future research should address whether inflammatory diathesis in these children confers increased susceptibility to later development of cardiovascular disease and other medical morbidities.
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9.
  • Lang, S, et al. (author)
  • Early Detection of Developmental Disorders: The role of Canonical Babbling
  • 2021
  • In: KINDHEIT UND ENTWICKLUNG. - : Hogrefe Publishing Group. - 0942-5403 .- 2190-6246. ; 30:1, s. 15-24
  • Journal article (other academic/artistic)abstract
    • Zusammenfassung. Theoretischer Hintergrund: Forschungsergebnisse zum frühen Spracherwerb bei Kindern mit spät erkannten Entwicklungsstörungen sind inkonsistent und angesichts unterschiedlicher Forschungsparadigmen und Definitionen nur bedingt vergleichbar. Fragestellung: Ziel dieser Übersichtsarbeit ist es, das Potenzial früher verbaler Fähigkeiten, vor allem des kanonischen Lallens, als Marker zur Früherkennung von Autismus-Spektrum-Störung, Rett-Syndrom und Fragilem-X-Syndrom zu beschreiben. Methode: Übersichtsarbeit über retrospektive und prospektive Studien zu frühen verbalen Fähigkeiten in der Prodromalphase dieser Störungsbilder. Ergebnisse: Einige Kinder mit spät erkannten Entwicklungsstörungen erwerben das kanonische Lallen nach dem kritischen Zeitfenster von 6 bis 10 Monaten und/oder haben oft qualitative Veränderungen in ihren Lautäußerungen. Diskussion und Schlussfolgerung: Eine abweichende Entwicklung des kanonischen Lallens kann auf spätere atypische Entwicklung hinweisen. Als funktioneller Marker für die spezifische Früherkennung von Entwicklungsstörungen scheint dieser Erwerbsmeilenstein jedoch nicht geeignet. Linguistische und signalbasierte Detailanalysen frühkindlicher Vokalisationen könnten zukünftig einen entscheidenden Beitrag hierzu leisten.
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  • Result 1-10 of 19

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