Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes / Kerry A. PETTIGREW in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.24 Titre : Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes Type de document : texte imprimé Auteurs : Kerry A. PETTIGREW, Auteur ; Emily FRINTON, Auteur ; Ron NUDEL, Auteur ; May T.M. CHAN, Auteur ; Paul THOMPSON, Auteur ; Marianna E. HAYIOU-THOMAS, Auteur ; Joel B. TALCOTT, Auteur ; John STEIN, Auteur ; A.P. MONACO, Auteur ; Charles HULME, Auteur ; Margaret J. SNOWLING, Auteur ; Dianne F. NEWBURY, Auteur ; Silvia PARACCHINI, Auteur Année de publication : 2016 Article en page(s) : p.24 Langues : Anglais (eng) Mots-clés : Candidate gene  Dyslexia  Genetic association  Language impairment  Parent-of-origin Index. décimale : PER Périodiques Résumé : BACKGROUND: Specific language impairment (SLI) is a common neurodevelopmental disorder, observed in 5-10 % of children. Family and twin studies suggest a strong genetic component, but relatively few candidate genes have been reported to date. A recent genome-wide association study (GWAS) described the first statistically significant association specifically for a SLI cohort between a missense variant (rs4280164) in the NOP9 gene and language-related phenotypes under a parent-of-origin model. Replications of these findings are particularly challenging because the availability of parental DNA is required. METHODS: We used two independent family-based cohorts characterised with reading- and language-related traits: a longitudinal cohort (n = 106 informative families) including children with language and reading difficulties and a nuclear family cohort (n = 264 families) selected for dyslexia. RESULTS: We observed association with language-related measures when modelling for parent-of-origin effects at the NOP9 locus in both cohorts: minimum P = 0.001 for phonological awareness with a paternal effect in the first cohort and minimum P = 0.0004 for irregular word reading with a maternal effect in the second cohort. Allelic and parental trends were not consistent when compared to the original study. CONCLUSIONS: A parent-of-origin effect at this locus was detected in both cohorts, albeit with different trends. These findings contribute in interpreting the original GWAS report and support further investigations of the NOP9 locus and its role in language-related traits. A systematic evaluation of parent-of-origin effects in genetic association studies has the potential to reveal novel mechanisms underlying complex traits. En ligne : http://dx.doi.org/10.1186/s11689-016-9157-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349 [article] Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes [texte imprimé] / Kerry A. PETTIGREW, Auteur ; Emily FRINTON, Auteur ; Ron NUDEL, Auteur ; May T.M. CHAN, Auteur ; Paul THOMPSON, Auteur ; Marianna E. HAYIOU-THOMAS, Auteur ; Joel B. TALCOTT, Auteur ; John STEIN, Auteur ; A.P. MONACO, Auteur ; Charles HULME, Auteur ; Margaret J. SNOWLING, Auteur ; Dianne F. NEWBURY, Auteur ; Silvia PARACCHINI, Auteur . - 2016 . - p.24. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.24 Mots-clés : Candidate gene  Dyslexia  Genetic association  Language impairment  Parent-of-origin Index. décimale : PER Périodiques Résumé : BACKGROUND: Specific language impairment (SLI) is a common neurodevelopmental disorder, observed in 5-10 % of children. Family and twin studies suggest a strong genetic component, but relatively few candidate genes have been reported to date. A recent genome-wide association study (GWAS) described the first statistically significant association specifically for a SLI cohort between a missense variant (rs4280164) in the NOP9 gene and language-related phenotypes under a parent-of-origin model. Replications of these findings are particularly challenging because the availability of parental DNA is required. METHODS: We used two independent family-based cohorts characterised with reading- and language-related traits: a longitudinal cohort (n = 106 informative families) including children with language and reading difficulties and a nuclear family cohort (n = 264 families) selected for dyslexia. RESULTS: We observed association with language-related measures when modelling for parent-of-origin effects at the NOP9 locus in both cohorts: minimum P = 0.001 for phonological awareness with a paternal effect in the first cohort and minimum P = 0.0004 for irregular word reading with a maternal effect in the second cohort. Allelic and parental trends were not consistent when compared to the original study. CONCLUSIONS: A parent-of-origin effect at this locus was detected in both cohorts, albeit with different trends. These findings contribute in interpreting the original GWAS report and support further investigations of the NOP9 locus and its role in language-related traits. A systematic evaluation of parent-of-origin effects in genetic association studies has the potential to reveal novel mechanisms underlying complex traits. En ligne : http://dx.doi.org/10.1186/s11689-016-9157-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349

The development of executive function and language skills in the early school years / Debbie GOOCH in Journal of Child Psychology and Psychiatry, 57-2 (February 2016)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 57-2 (February 2016) . - p.180-187 Titre : The development of executive function and language skills in the early school years Type de document : texte imprimé Auteurs : Debbie GOOCH, Auteur ; Paul THOMPSON, Auteur ; Hannah M. NASH, Auteur ; Margaret J. SNOWLING, Auteur ; Charles HULME, Auteur Article en page(s) : p.180-187 Langues : Anglais (eng) Mots-clés : Executive function  language skills  family risk of dyslexia  language impairment  longitudinal  development Index. décimale : PER Périodiques Résumé : Background The developmental relationships between executive functions (EF) and early language skills are unclear. This study explores the longitudinal relationships between children's early EF and language skills in a sample of children with a wide range of language abilities including children at risk of dyslexia. In addition, we investigated whether these skills independently predict children's attention/behaviour skills. Method Data are presented from 243 children at four time points. Children were selected for being at risk of reading difficulties either because of a family history of dyslexia (FR; N = 90) or because of concerns regarding their language development (LI; N = 79) or as typically developing controls (TD; N = 74). The children completed tasks to assess their executive function and language skills at ages 4, 5 and 6 years. At 6 (T4) and 7 years (T5) parents and teachers rated the children's attention/behaviour skills. Results There was a strong concurrent relationship between language and EF at each assessment. Longitudinal analyses indicated a considerable degree of stability in children's language and EF skills: the influence of language on later EF skills (and vice versa) was weak and not significant in the current sample. Children's EF, but not language, skills at T3 predicted attention/behaviour ratings at T4/T5. Conclusions There is a strong concurrent association between language and EF skills during the preschool and early school years, when children with language impairment show persistent EF deficits. Latent variables measuring language and EF show high longitudinal stability with little evidence of significant or strong reciprocal influences between these constructs. EF, but not language, skills predict later ratings of children's attention and behaviour. En ligne : http://dx.doi.org/10.1111/jcpp.12458 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=280 [article] The development of executive function and language skills in the early school years [texte imprimé] / Debbie GOOCH, Auteur ; Paul THOMPSON, Auteur ; Hannah M. NASH, Auteur ; Margaret J. SNOWLING, Auteur ; Charles HULME, Auteur . - p.180-187. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 57-2 (February 2016) . - p.180-187 Mots-clés : Executive function  language skills  family risk of dyslexia  language impairment  longitudinal  development Index. décimale : PER Périodiques Résumé : Background The developmental relationships between executive functions (EF) and early language skills are unclear. This study explores the longitudinal relationships between children's early EF and language skills in a sample of children with a wide range of language abilities including children at risk of dyslexia. In addition, we investigated whether these skills independently predict children's attention/behaviour skills. Method Data are presented from 243 children at four time points. Children were selected for being at risk of reading difficulties either because of a family history of dyslexia (FR; N = 90) or because of concerns regarding their language development (LI; N = 79) or as typically developing controls (TD; N = 74). The children completed tasks to assess their executive function and language skills at ages 4, 5 and 6 years. At 6 (T4) and 7 years (T5) parents and teachers rated the children's attention/behaviour skills. Results There was a strong concurrent relationship between language and EF at each assessment. Longitudinal analyses indicated a considerable degree of stability in children's language and EF skills: the influence of language on later EF skills (and vice versa) was weak and not significant in the current sample. Children's EF, but not language, skills at T3 predicted attention/behaviour ratings at T4/T5. Conclusions There is a strong concurrent association between language and EF skills during the preschool and early school years, when children with language impairment show persistent EF deficits. Latent variables measuring language and EF show high longitudinal stability with little evidence of significant or strong reciprocal influences between these constructs. EF, but not language, skills predict later ratings of children's attention and behaviour. En ligne : http://dx.doi.org/10.1111/jcpp.12458 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=280

The Factor Structure and Validity of the Psychopathy Checklist-Short Version When Used With Autistic Psychiatric Inpatients / Kate MAGUIRE in Autism Research, 18-3 (March 2025)  

Public ISBD [article]  inAutism Research > 18-3 (March 2025) . - p.614-631 Titre : The Factor Structure and Validity of the Psychopathy Checklist-Short Version When Used With Autistic Psychiatric Inpatients Type de document : texte imprimé Auteurs : Kate MAGUIRE, Auteur ; Magali BARNOUX, Auteur ; Josie COLLINS, Auteur ; Clare L. MELVIN, Auteur ; Ismay INKSON, Auteur ; Regi T. ALEXANDER, Auteur ; John DEVAPRIAM, Auteur ; Connor DUGGAN, Auteur ; Lee SHEPSTONE, Auteur ; Ekkehart STAUFENBURG, Auteur ; Paul THOMPSON, Auteur ; David TURNER, Auteur ; Essi VIDING, Auteur ; Peter E. LANGDON, Auteur Article en page(s) : p.614-631 Langues : Anglais (eng) Mots-clés : autism  crime  intellectual disabilities  psychiatric inpatient  psychopathy  risk Index. décimale : PER Périodiques Résumé : ABSTRACT The Psychopathy Checklist Short Version (PCL:SV) is a brief measure of psychopathy. This study aimed to assess the reliability and validity of the PCL:SV with autistic adults detained in inpatient psychiatric care. Data were collected from 282 autistic adults at two time points separated by 12-months. Reliability and validity were investigated using omega, regression, receiver operating characteristic curves, and correlational analysis. PCL:SV Total, Factor 1, and Factor 2 had satisfactory to high reliability and construct validity. Higher PCL:SV scores were associated with poorer treatment progress, a longer length of stay, and previous criminal offending. Factor 1 was associated with a forensic history, detention under Part III of the Mental Health Act, and a personality disorder diagnosis, while Factor 2 was also associated with the absence of a forensic history, detention under Part II of the Mental Health Act, but not a personality disorder diagnosis. It was thought that Factor 2 most likely captured data associated with autism and/or intellectual disabilities (e.g., behaviors that challenge). Those with intellectual disabilities were less likely to have convictions, a history of violent offending, or a forensic history. They were also more likely to be detained under Part II of the Mental Health Act, and were more likely to have had a positive transfer 12-months later to a ward with lesser security. The PCL-SV correlated as expected with the HCR-20 and the START. This study provides preliminary evidence to support the use of the PCL:SV with autistic adults, including those with intellectual disabilities, within inpatient psychiatric hospitals. En ligne : https://doi.org/10.1002/aur.70004 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=550 [article] The Factor Structure and Validity of the Psychopathy Checklist-Short Version When Used With Autistic Psychiatric Inpatients [texte imprimé] / Kate MAGUIRE, Auteur ; Magali BARNOUX, Auteur ; Josie COLLINS, Auteur ; Clare L. MELVIN, Auteur ; Ismay INKSON, Auteur ; Regi T. ALEXANDER, Auteur ; John DEVAPRIAM, Auteur ; Connor DUGGAN, Auteur ; Lee SHEPSTONE, Auteur ; Ekkehart STAUFENBURG, Auteur ; Paul THOMPSON, Auteur ; David TURNER, Auteur ; Essi VIDING, Auteur ; Peter E. LANGDON, Auteur . - p.614-631. Langues : Anglais (eng) in Autism Research > 18-3 (March 2025) . - p.614-631 Mots-clés : autism  crime  intellectual disabilities  psychiatric inpatient  psychopathy  risk Index. décimale : PER Périodiques Résumé : ABSTRACT The Psychopathy Checklist Short Version (PCL:SV) is a brief measure of psychopathy. This study aimed to assess the reliability and validity of the PCL:SV with autistic adults detained in inpatient psychiatric care. Data were collected from 282 autistic adults at two time points separated by 12-months. Reliability and validity were investigated using omega, regression, receiver operating characteristic curves, and correlational analysis. PCL:SV Total, Factor 1, and Factor 2 had satisfactory to high reliability and construct validity. Higher PCL:SV scores were associated with poorer treatment progress, a longer length of stay, and previous criminal offending. Factor 1 was associated with a forensic history, detention under Part III of the Mental Health Act, and a personality disorder diagnosis, while Factor 2 was also associated with the absence of a forensic history, detention under Part II of the Mental Health Act, but not a personality disorder diagnosis. It was thought that Factor 2 most likely captured data associated with autism and/or intellectual disabilities (e.g., behaviors that challenge). Those with intellectual disabilities were less likely to have convictions, a history of violent offending, or a forensic history. They were also more likely to be detained under Part II of the Mental Health Act, and were more likely to have had a positive transfer 12-months later to a ward with lesser security. The PCL-SV correlated as expected with the HCR-20 and the START. This study provides preliminary evidence to support the use of the PCL:SV with autistic adults, including those with intellectual disabilities, within inpatient psychiatric hospitals. En ligne : https://doi.org/10.1002/aur.70004 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=550

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