Associations of HLA alleles with specific language impairment / R. NUDEL in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.1 Titre : Associations of HLA alleles with specific language impairment Type de document : Texte imprimé et/ou numérique Auteurs : R. NUDEL, Auteur ; N. H. SIMPSON, Auteur ; Gillian BAIRD, Auteur ; A. O'HARE, Auteur ; G. CONTI-RAMSDEN, Auteur ; Patrick BOLTON, Auteur ; E. R. HENNESSY, Auteur ; A. P. MONACO, Auteur ; J. C. KNIGHT, Auteur ; B. WINNEY, Auteur ; S. E. FISHER, Auteur ; D. F. NEWBURY, Auteur Article en page(s) : p.1 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Human leukocyte antigen (HLA) loci have been implicated in several neurodevelopmental disorders in which language is affected. However, to date, no studies have investigated the possible involvement of HLA loci in specific language impairment (SLI), a disorder that is defined primarily upon unexpected language impairment. We report association analyses of single-nucleotide polymorphisms (SNPs) and HLA types in a cohort of individuals affected by language impairment. METHODS: We perform quantitative association analyses of three linguistic measures and case-control association analyses using both SNP data and imputed HLA types. RESULTS: Quantitative association analyses of imputed HLA types suggested a role for the HLA-A locus in susceptibility to SLI. HLA-A A1 was associated with a measure of short-term memory (P = 0.004) and A3 with expressive language ability (P = 0.006). Parent-of-origin effects were found between HLA-B B8 and HLA-DQA1*0501 and receptive language. These alleles have a negative correlation with receptive language ability when inherited from the mother (P = 0.021, P = 0.034, respectively) but are positively correlated with the same trait when paternally inherited (P = 0.013, P = 0.029, respectively). Finally, case control analyses using imputed HLA types indicated that the DR10 allele of HLA-DRB1 was more frequent in individuals with SLI than population controls (P = 0.004, relative risk = 2.575), as has been reported for individuals with attention deficit hyperactivity disorder (ADHD). CONCLUSION: These preliminary data provide an intriguing link to those described by previous studies of other neurodevelopmental disorders and suggest a possible role for HLA loci in language disorders. En ligne : http://dx.doi.org/10.1186/1866-1955-6-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345 [article] Associations of HLA alleles with specific language impairment [Texte imprimé et/ou numérique] / R. NUDEL, Auteur ; N. H. SIMPSON, Auteur ; Gillian BAIRD, Auteur ; A. O'HARE, Auteur ; G. CONTI-RAMSDEN, Auteur ; Patrick BOLTON, Auteur ; E. R. HENNESSY, Auteur ; A. P. MONACO, Auteur ; J. C. KNIGHT, Auteur ; B. WINNEY, Auteur ; S. E. FISHER, Auteur ; D. F. NEWBURY, Auteur . - p.1. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.1 Index. décimale : PER Périodiques Résumé : BACKGROUND: Human leukocyte antigen (HLA) loci have been implicated in several neurodevelopmental disorders in which language is affected. However, to date, no studies have investigated the possible involvement of HLA loci in specific language impairment (SLI), a disorder that is defined primarily upon unexpected language impairment. We report association analyses of single-nucleotide polymorphisms (SNPs) and HLA types in a cohort of individuals affected by language impairment. METHODS: We perform quantitative association analyses of three linguistic measures and case-control association analyses using both SNP data and imputed HLA types. RESULTS: Quantitative association analyses of imputed HLA types suggested a role for the HLA-A locus in susceptibility to SLI. HLA-A A1 was associated with a measure of short-term memory (P = 0.004) and A3 with expressive language ability (P = 0.006). Parent-of-origin effects were found between HLA-B B8 and HLA-DQA1*0501 and receptive language. These alleles have a negative correlation with receptive language ability when inherited from the mother (P = 0.021, P = 0.034, respectively) but are positively correlated with the same trait when paternally inherited (P = 0.013, P = 0.029, respectively). Finally, case control analyses using imputed HLA types indicated that the DR10 allele of HLA-DRB1 was more frequent in individuals with SLI than population controls (P = 0.004, relative risk = 2.575), as has been reported for individuals with attention deficit hyperactivity disorder (ADHD). CONCLUSION: These preliminary data provide an intriguing link to those described by previous studies of other neurodevelopmental disorders and suggest a possible role for HLA loci in language disorders. En ligne : http://dx.doi.org/10.1186/1866-1955-6-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345

Implementation of a Practice Development Model to Reduce the Wait for Autism Spectrum Diagnosis in Adults / M. RUTHERFORD in Journal of Autism and Developmental Disorders, 48-8 (August 2018)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-8 (August 2018) . - p.2677-2691 Titre : Implementation of a Practice Development Model to Reduce the Wait for Autism Spectrum Diagnosis in Adults Type de document : Texte imprimé et/ou numérique Auteurs : M. RUTHERFORD, Auteur ; K. FORSYTH, Auteur ; K. MCKENZIE, Auteur ; I. MCCLURE, Auteur ; A. MURRAY, Auteur ; D. MCCARTNEY, Auteur ; L. IRVINE, Auteur ; A. O'HARE, Auteur Article en page(s) : p.2677-2691 Langues : Anglais (eng) Mots-clés : Asd  Adults  Diagnostic assessment  Reducing wait times  Service improvement Index. décimale : PER Périodiques Résumé : This study examined waiting times for diagnostic assessment of Autism Spectrum Disorder in 11 adult services, prior to and following the implementation of a 12 month change program. Methods to support change are reported and a multi-level modelling approach determined the effect of the change program on overall wait times. Results were statistically significant (b = - 0.25, t(136) = - 2.88, p = 0.005). The average time individuals waited for diagnosis across all services reduced from 149.4 days prior to the change program and 119.5 days after it, with an average reduction of 29.9 days overall. This innovative intervention provides a promising framework for service improvement to reduce the wait for diagnostic assessment of ASD in adults across the range of spectrum presentations. En ligne : http://dx.doi.org/10.1007/s10803-018-3501-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367 [article] Implementation of a Practice Development Model to Reduce the Wait for Autism Spectrum Diagnosis in Adults [Texte imprimé et/ou numérique] / M. RUTHERFORD, Auteur ; K. FORSYTH, Auteur ; K. MCKENZIE, Auteur ; I. MCCLURE, Auteur ; A. MURRAY, Auteur ; D. MCCARTNEY, Auteur ; L. IRVINE, Auteur ; A. O'HARE, Auteur . - p.2677-2691. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 48-8 (August 2018) . - p.2677-2691 Mots-clés : Asd  Adults  Diagnostic assessment  Reducing wait times  Service improvement Index. décimale : PER Périodiques Résumé : This study examined waiting times for diagnostic assessment of Autism Spectrum Disorder in 11 adult services, prior to and following the implementation of a 12 month change program. Methods to support change are reported and a multi-level modelling approach determined the effect of the change program on overall wait times. Results were statistically significant (b = - 0.25, t(136) = - 2.88, p = 0.005). The average time individuals waited for diagnosis across all services reduced from 149.4 days prior to the change program and 119.5 days after it, with an average reduction of 29.9 days overall. This innovative intervention provides a promising framework for service improvement to reduce the wait for diagnostic assessment of ASD in adults across the range of spectrum presentations. En ligne : http://dx.doi.org/10.1007/s10803-018-3501-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367

Improving Efficiency and Quality of the Children's ASD Diagnostic Pathway: Lessons Learned from Practice / M. RUTHERFORD in Journal of Autism and Developmental Disorders, 48-5 (May 2018)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-5 (May 2018) . - p.1579-1595 Titre : Improving Efficiency and Quality of the Children's ASD Diagnostic Pathway: Lessons Learned from Practice Type de document : Texte imprimé et/ou numérique Auteurs : M. RUTHERFORD, Auteur ; M. BURNS, Auteur ; D. GRAY, Auteur ; L. BREMNER, Auteur ; S. CLEGG, Auteur ; L. RUSSELL, Auteur ; C. SMITH, Auteur ; A. O'HARE, Auteur Article en page(s) : p.1579-1595 Langues : Anglais (eng) Mots-clés : Autism diagnostic assessment  Children  Pathways  Waiting times Index. décimale : PER Périodiques Résumé : The 'autism diagnosis crisis' and long waiting times for assessment are as yet unresolved, leading to undue stress and limiting access to effective support. There is therefore a significant need for evidence to support practitioners in the development of efficient services, delivering acceptable waiting times and effectively meeting guideline standards. This study reports statistically significant reductions in waiting times for autism diagnostic assessment following a children's health service improvement programme. The average wait between referral and first appointment reduced from 14.2 to 10.4 weeks (t(21) = 4.3, p < 0.05) and between referral and diagnosis shared, reduced from 270 to 122.5 days, (t(20) = 5.5, p < 0.05). The proportion of girls identified increased from 5.6 to 2.7:1. Methods reported include: local improvement action planning; evidence based pathways; systematic clinical data gathering and a training plan. This is a highly significant finding for many health services wrestling with the challenges of demand and capacity for autism diagnosis and assessment. En ligne : http://dx.doi.org/10.1007/s10803-017-3415-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=355 [article] Improving Efficiency and Quality of the Children's ASD Diagnostic Pathway: Lessons Learned from Practice [Texte imprimé et/ou numérique] / M. RUTHERFORD, Auteur ; M. BURNS, Auteur ; D. GRAY, Auteur ; L. BREMNER, Auteur ; S. CLEGG, Auteur ; L. RUSSELL, Auteur ; C. SMITH, Auteur ; A. O'HARE, Auteur . - p.1579-1595. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 48-5 (May 2018) . - p.1579-1595 Mots-clés : Autism diagnostic assessment  Children  Pathways  Waiting times Index. décimale : PER Périodiques Résumé : The 'autism diagnosis crisis' and long waiting times for assessment are as yet unresolved, leading to undue stress and limiting access to effective support. There is therefore a significant need for evidence to support practitioners in the development of efficient services, delivering acceptable waiting times and effectively meeting guideline standards. This study reports statistically significant reductions in waiting times for autism diagnostic assessment following a children's health service improvement programme. The average wait between referral and first appointment reduced from 14.2 to 10.4 weeks (t(21) = 4.3, p < 0.05) and between referral and diagnosis shared, reduced from 270 to 122.5 days, (t(20) = 5.5, p < 0.05). The proportion of girls identified increased from 5.6 to 2.7:1. Methods reported include: local improvement action planning; evidence based pathways; systematic clinical data gathering and a training plan. This is a highly significant finding for many health services wrestling with the challenges of demand and capacity for autism diagnosis and assessment. En ligne : http://dx.doi.org/10.1007/s10803-017-3415-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=355

Social identities and mental well-being in autistic adults / C. A. MAITLAND in Autism, 25-6 (August 2021)  

Public ISBD [article]  inAutism > 25-6 (August 2021) . - p.1771-1783 Titre : Social identities and mental well-being in autistic adults Type de document : Texte imprimé et/ou numérique Auteurs : C. A. MAITLAND, Auteur ; S. RHODES, Auteur ; A. O'HARE, Auteur ; M. E. STEWART, Auteur Article en page(s) : p.1771-1783 Langues : Anglais (eng) Mots-clés : Adult  Anxiety  Autism Spectrum Disorder  Autistic Disorder  Humans  Mental Health  Social Identification  adults  autism spectrum disorders  depression  mental health  social cognition and social behaviour  social identity  well-being  of interest with respect to the research, authorship and/or publication of this  article. Index. décimale : PER Périodiques Résumé : Social identities are groups that we are part of and influence how we think about ourselves. However, up until now there has been little examination of the groups that autistic people may belong to, and how these groups may influence their mental health. This survey-based study investigated whether autistic adults answer questions about social groups in a similar way to non-autistic non-autistic adults, including the types and number of social groups they may belong to, and whether these are associated with depression, anxiety and positive traits of mental well-being. In total, 184 autistic adults completed an online survey with questionnaires about their demographics, social groups and mental health. The results found that autistic adults reported on their social groups similarly to non-autistic people. There was a variety in the types and numbers of groups that autistic adults identified with. Some participants reported having no groups that they identified with, whereas others reported up to four groups. These included other autistic people, their family, friends, work colleagues and activity clubs among others. Autistic adults who felt connected with more groups reported better mental well-being. Feelings of connection to other autistic people and the family were also associated with better mental well-being. These results show that it is important for autistic people to be given opportunity to be part of groups that are meaningful to them, as this may be beneficial for their mental health. En ligne : http://dx.doi.org/10.1177/13623613211004328 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=451 [article] Social identities and mental well-being in autistic adults [Texte imprimé et/ou numérique] / C. A. MAITLAND, Auteur ; S. RHODES, Auteur ; A. O'HARE, Auteur ; M. E. STEWART, Auteur . - p.1771-1783. Langues : Anglais (eng) in Autism > 25-6 (August 2021) . - p.1771-1783 Mots-clés : Adult  Anxiety  Autism Spectrum Disorder  Autistic Disorder  Humans  Mental Health  Social Identification  adults  autism spectrum disorders  depression  mental health  social cognition and social behaviour  social identity  well-being  of interest with respect to the research, authorship and/or publication of this  article. Index. décimale : PER Périodiques Résumé : Social identities are groups that we are part of and influence how we think about ourselves. However, up until now there has been little examination of the groups that autistic people may belong to, and how these groups may influence their mental health. This survey-based study investigated whether autistic adults answer questions about social groups in a similar way to non-autistic non-autistic adults, including the types and number of social groups they may belong to, and whether these are associated with depression, anxiety and positive traits of mental well-being. In total, 184 autistic adults completed an online survey with questionnaires about their demographics, social groups and mental health. The results found that autistic adults reported on their social groups similarly to non-autistic people. There was a variety in the types and numbers of groups that autistic adults identified with. Some participants reported having no groups that they identified with, whereas others reported up to four groups. These included other autistic people, their family, friends, work colleagues and activity clubs among others. Autistic adults who felt connected with more groups reported better mental well-being. Feelings of connection to other autistic people and the family were also associated with better mental well-being. These results show that it is important for autistic people to be given opportunity to be part of groups that are meaningful to them, as this may be beneficial for their mental health. En ligne : http://dx.doi.org/10.1177/13623613211004328 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=451

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