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Sökning: WFRF:(Baird G.) > Baird G.

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1.
  • Weiner, D. J., et al. (författare)
  • Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
  • 2017
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 49:7, s. 978-
  • Tidskriftsartikel (refereegranskat)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. (författare)
  • 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
  • Ingår i: Molecular Autism. - : Springer Science and Business Media LLC. - 2040-2392. ; 8
  • Tidskriftsartikel (refereegranskat)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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4.
  • Green, Dido, et al. (författare)
  • A pilot study of psychopathology in Developmental Coordination Disorder
  • 2006
  • Ingår i: Child Care Health and Development. - : John Wiley & Sons. - 0305-1862 .- 1365-2214. ; 32:6, s. 741-750
  • Tidskriftsartikel (refereegranskat)abstract
    • Background:This paper explores the prevalence of emotional and behavioural disorders in children referred to a Community Paediatric Occupational Therapy service for assessment and treatment of problems with development of motor skills.Methods:Parents of 47 children from a clinical sample of children who had been identified with Developmental Coordination Disorder (DCD) returned the Strengths and Difficulties Questionnaire (SDQ) - a brief measure of the pro-social behaviour and psychopathology that can be completed by parents, teachers or youths.Results: Significant emotional and behavioural problems were reported by 29 parents (62%) with a further six (13%) reporting problems in the borderline range. Seven children (15%) were without significant problems in one or more area although only four of these (9%) were outside the borderline range for all of the sub-domains of the SDQ.Discussion:A significant proportion of children with DCD were reported by their parents to be at risk of psychopathology. Further research is needed to understand the relationship between motor difficulties and emotional and behavioural symptoms; however, it is recommended that interventions for children with DCD should support mental health and behavioural problems as well as motor development.
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5.
  • Green, Dido, et al. (författare)
  • Brief Report : DSM-5 Sensory Behaviours in Children With and Without an Autism Spectrum Disorder
  • 2016
  • Ingår i: Journal of autism and developmental disorders. - : Springer. - 0162-3257 .- 1573-3432. ; 46:11, s. 3597-3606
  • Tidskriftsartikel (refereegranskat)abstract
    • Atypical responses to sensory stimuli are a new criterion in DSM-5 for the diagnosis of an autism spectrum disorder (ASD) but are also reported in other developmental disorders. Using the Short Sensory profile (SSP) and Autism Diagnostic Interview-Revised we compared atypical sensory behaviour (hyper- or hypo-reactivity to sensory input or unusual sensory interests) in children aged 10–14 years with (N = 116) or without an ASD but with special educational needs (SEN; N = 72). Atypical sensory behaviour was reported in 92 % of ASD and 67 % of SEN children. Greater sensory dysfunction was associated with increased autism severity (specifically restricted and repetitive behaviours) and behaviour problems (specifically emotional subscore) on teacher and parent Strengths and Difficulties Questionnaires but not with IQ.
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6.
  • Green, Dido, et al. (författare)
  • Impairment in movement skills of children with autistic spectrum disorders
  • 2009
  • Ingår i: Developmental Medicine & Child Neurology. - : Wiley. - 0012-1622 .- 1469-8749. ; 51:4, s. 311-316
  • Tidskriftsartikel (refereegranskat)abstract
    • Aim:We undertook this study to explore the degree of impairment in movement skills in children with autistic spectrum disorders (ASD) and a wide IQ range.Methods:Movement skills were measured using the Movement Assessment Battery for Children (M-ABC) in a large, well defined, population-derived group of children (n = 101: 89 males, 12 females; mean age 11 y 4 mo, SD 10 mo; range 10 y-14 y 3 mo) with childhood autism and broader ASD and a wide range of IQ scores. Additionally, we tested whether a parent-completed questionnaire, the Developmental Coordination Disorder Questionnaire (DCDQ), was useful in identifying children who met criteria for movement impairments after assessment (n = 97 with complete M-ABCs and DCDQs).Results:Of the children with ASD, 79% had definite movement impairments on the M-ABC; a further 10% had borderline problems. Children with childhood autism were more impaired than children with broader ASD, and children with an IQ less than 70 were more impaired than those with IQ more than 70. This is consistent with the view that movement impairments may arise from a more severe neurological impairment that also contributes to intellectual disability and more severe autism. Movement impairment was not associated with everyday adaptive behaviour once the effect of IQ was controlled for. The DCDQ performed moderately well as a screen for possible motor difficulties.Interretation:Movement impairments are common in children with ASD. Systematic assessment of movement abilities should be considered a routine investigation.
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7.
  • Green, Dido, et al. (författare)
  • Is questionnaire-based screening part of the solution to waiting lists for children with developmental coordination disorder?
  • 2005
  • Ingår i: British Journal of Occupational Therapy. - : Sage Publications. - 0308-0226 .- 1477-6006. ; 68:1, s. 2-10
  • Tidskriftsartikel (refereegranskat)abstract
    • This study was undertaken to determine whether questionnaire-based screening could be part of the solution to a long waiting list of referrals for occupational therapy assessment by identifying the requirement for clinical assessments. The performance of two questionnaires - the Developmental Coordination Disorder Questionnaire (DCDQ) completed by parents and the Checklist of the Movement Assessment Battery for Children (C-ABC) completed by teachers - was compared with a more traditional clinical assessment for the identification of DCD in children already referred to occupational therapy. It was found that the parent report was quite reliable in the identification of DCD if no other developmental problem was present. However, there was little benefit to using the teacher report to screen children. Several confounding variables, including an unequal proportion of children with DCD in the sample and the inclusion of children who were younger than the age range of the DCDQ, may have influenced how well the questionnaires performed. Although questionnaires cannot replace a full clinical assessment, the results showed that there may be some value in including the parent report in the identification of DCD.
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8.
  • Green, Dido, et al. (författare)
  • The severity and nature of motor impairment in Asperger's syndrome : A comparison with Specific Developmental Disorder of Motor Function
  • 2002
  • Ingår i: Journal of Child Psychology and Psychiatry. - : Wiley. - 0021-9630 .- 1469-7610. ; 43:5, s. 655-668
  • Tidskriftsartikel (refereegranskat)abstract
    • Background:The aims of this study were to measure objectively the extent and severity of motor impairment in children with Asperger's syndrome and to determine whether the motor difficulties experienced by such children differed in any way from those classified as having a Specific Developmental Disorder of Motor Function (SDD-MF). Criteria derived from ICD 10-R were used to identify 11 children with Asperger's syndrome and a matched group of 9 children with a Specific Developmental Disorder of Motor Function. Children in both groups were required to have a verbal IQ of 80 or greater on the WISC IIIR.Method:The Autism Diagnostic Interview (Revised; Lord, Rutter, & LeCouteur, 1994) was used to identify features of AS in the first group and to exclude them in the latter. The Movement Assessment Battery for Children (Henderson & Sugden, 1992) provided a standardised test of motor impairment. A Gesture Test based on that by Cermak, Coster, and Drake (1980) was used to assess the child's ability to mime the use of familiar tools and to imitate meaningless sequences of movements.Results:All the children with Asperger's syndrome turned out to meet our criterion for a diagnosis of motor impairment, five of the six most severely motor impaired children in the whole study being from this group. Performance of the Asperger group was also slightly poorer on the Gesture Test. The profile of performance on each test was examined in detail but no evidence of group differences in the pattern of impairment was found.Conclusions:This study is consistent with others suggesting a high prevalence of clumsiness in Asperger's syndrome. Our findings also attest to the widespread prevalence of motor impairment in developmental disorders and the problems such co-morbidity poses for attempts to posit discrete and functionally coherent impairments underlying distinct syndromes.
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10.
  • Wincent, J, et al. (författare)
  • Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications
  • 2010
  • Ingår i: Molecular syndromology. - : S. Karger AG. - 1661-8769 .- 1661-8777. ; 1:5, s. 246-254
  • Tidskriftsartikel (refereegranskat)abstract
    • The chromosome region 22q11.2 has long been recognized to be susceptible to genomic rearrangement. More recently, this genomic instability has been shown to extend distally (involving LCR22E–H) to the commonly deleted/duplicated region. To date, 21 index cases with ‘distal’ 22q11.2 duplications have been reported. We report on the clinical and molecular characterization of 16 individuals with distal 22q11.2 duplications identified by DNA microarray analysis. Two of the individuals have been partly described previously. The clinical phenotype varied among the patients in this study, although the majority displayed various degrees of developmental delay and speech disturbances. Other clinical features included behavioral problems, hypotonia, and dysmorphic facial features. Notably, none of the patients was diagnosed with a congenital heart defect. We found a high degree of inherited duplications. Additional copy number changes of unclear clinical significance were identified in 5 of our patients, and it is possible that these may contribute to the phenotypic expression in these patients as has been suggested recently in a 2-hit ‘digenic’ model for 16p12.1 deletions. The varied phenotypic expression and incomplete penetrance observed for distal 22q11.2 duplications makes it exceedingly difficult to ascribe pathogenicity for these duplications. Given the observed enrichment of the duplication in patient samples versus healthy controls, it is likely that distal 22q11.2 duplications represent a susceptibility/risk locus for speech and mild developmental delay.
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