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Nudel R.,University of Oxford | Simpson N.H.,University of Oxford | Baird G.,Newcomen Center | O'Hare A.,University of Edinburgh | And 13 more authors.
Genes, Brain and Behavior | Year: 2014

Specific language impairment (SLI) is a neurodevelopmental disorder that affects linguistic abilities when development is otherwise normal. We report the results of a genome-wide association study of SLI which included parent-of-origin effects and child genotype effects and used 278 families of language-impaired children. The child genotype effects analysis did not identify significant associations. We found genome-wide significant paternal parent-of-origin effects on chromosome 14q12 (P=3.74×10-8) and suggestive maternal parent-of-origin effects on chromosome 5p13 (P=1.16×10-7). A subsequent targeted association of six single-nucleotide-polymorphisms (SNPs) on chromosome 5 in 313 language-impaired individuals and their mothers from the ALSPAC cohort replicated the maternal effects, albeit in the opposite direction (P=0.001); as fathers' genotypes were not available in the ALSPAC study, the replication analysis did not include paternal parent-of-origin effects. The paternally-associated SNP on chromosome 14 yields a non-synonymous coding change within the NOP9 gene. This gene encodes an RNA-binding protein that has been reported to be significantly dysregulated in individuals with schizophrenia. The region of maternal association on chromosome 5 falls between the PTGER4 and DAB2 genes, in a region previously implicated in autism and ADHD. The top SNP in this association locus is a potential expression QTL of ARHGEF19 (also called WGEF) on chromosome 1. Members of this protein family have been implicated in intellectual disability. In summary, this study implicates parent-of-origin effects in language impairment, and adds an interesting new dimension to the emerging picture of shared genetic etiology across various neurodevelopmental disorders. GWAS of child genotype effects and parent-of-origin effects in SLI identify loci on 5p13 and 14q12. © 2014 The Authors. Genes, Brain and Behavior published by International Behavioural and Neural Genetics Society and John Wiley & Sons Ltd. Source


Kingston C.,Kings College London | Hibberd C.,University of Surrey | Ozsivadjian A.,Newcomen Center
Child and Adolescent Mental Health | Year: 2013

Background: Mental health problems are increasingly being recognised as a significant health need for people with autism spectrum disorder, but few specialist services are available. This study explored parents' experiences of a specialist autism spectrum psychological intervention service located within a broader Neurodevelopmental and Social Communication Disorders Team. Method: Forty-nine parents completed a telephone based survey designed to assess experiences of a specialist intervention service. Results: High levels of satisfaction were reported. Parents reported aspects of the service that they found most useful. Conclusion: Most parents reported satisfaction with the service and suggested improvements were used to guide service development. © 2012 The Authors. Child and Adolescent Mental Health © 2012 Association for Child and Adolescent Mental Health. Source


Ozsivadjian A.,Guys and St Thomas NHS Foundation Trust | Ozsivadjian A.,Newcomen Center | Knott F.,Berkshire Healthcare Foundation NHS Trust
Clinical Child Psychology and Psychiatry | Year: 2011

It is now well established that the prevalence of mental health difficulties in individuals with autism spectrum disorders (ASD) is considerably higher than in the general population. With recent estimates of the prevalence of autism spectrum disorders being as high as one percent, increasing numbers of children and young people are presenting to local and specialist services with mental health problems in addition to a diagnosis of ASD. Many families report that the impact of the mental health problems can be as or more impairing than the autism spectrum difficulties themselves. Clinical services are frequently called upon to treat these difficulties; however, there is limited evidence for the effectiveness of treatments in this population. This paper reports a case series of children and adolescents with ASD and an anxiety disorder who were treated with a standard cognitive behaviour therapy (CBT) rationale adapted to take account of the neuropsychological features of ASD. Common features of the presentation of the disorders and also treatment processes are discussed. © 2011 The Author(s). Source


Palmer E.,Highpoint House | Ketteridge C.,Borders General Hospital | Parr J.R.,Newcastle University | Baird G.,Newcomen Center | Le Couteur A.,Newcastle University
Archives of Disease in Childhood | Year: 2011

Objectives: To assess in the context of a publically funded healthcare system, change in UK autism spectrum disorder (ASD) clinical diagnostic practice following the recommendations of the National Autism Plan for Children (NAP-C 2003). Methods: In 2007, a questionnaire based on standards from the NAP-C was sent to UK child development teams (CDTs); results were compared with 2001 data from the National Initiative for Autism Screening and Assessment. Main findings: Responses were received from 149 of 243 UK CDTs (61%). Most teams used standardised autism diagnostic assessments. There was greater access to members of the multidisciplinary team than in 2001. Only one-third of teams had a defined timescale for completion of assessment; of those teams, about half met the recommended NAP-C target. Conclusions: Since 2001, there has been an improvement in diagnostic services for children with ASD, however, inequalities remain. Providers should continue to improve services in order to deliver timely and comprehensive assessments for children with ASD. Source


Chandler S.,Newcomen Center | Chandler S.,Kings College London | Howlin P.,Kings College London | Howlin P.,University of Sydney | And 6 more authors.
Developmental Medicine and Child Neurology | Year: 2016

Aim: To assess the frequency, pervasiveness, associated features, and persistence of emotional and behavioural problems in a community sample of young children with autism spectrum disorder (ASD). Method: Parents (n=277) and teachers (n=228) of 4- to 8-year-olds completed the Developmental Behaviour Checklist (DBC). Intellectual ability and autism symptomatology were also assessed. A subsample repeated the DBC. Results: Three-quarters of the cohort scored above the clinical cut-off on the Developmental Behaviour Checklist Primary Carer Version (DBC-P) questionnaire; almost two-thirds of these scored above cut-off on the Developmental Behaviour Checklist Teacher Version (DBC-T) questionnaire. In 81%, problems persisted above threshold 14 months later. Higher DBC-P scores were associated with greater autism symptomatology, higher deprivation index, parental unemployment, and more children in the home but not with parental education or ethnicity, or child's age or sex. Children with IQ>70 scored higher for disruptive behaviour, depression, and anxiety symptoms; those with IQ<70 scored higher for self-absorption and hyperactivity. Interpretation: The DBC identifies a range of additional behaviour problems that are common in ASD and which could be the focus for specific intervention. The results highlight the potential benefit of systematic screening for co-existing problems. © 2016 Mac Keith Press. Source

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