Interoceptive Accuracy in Youth with Tic Disorders: Exploring Links with Premonitory Urge, Anxiety and Quality of Life / Victoria PILE in Journal of Autism and Developmental Disorders, 48-10 (October 2018)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-10 (October 2018) . - p.3474-3482 Titre : Interoceptive Accuracy in Youth with Tic Disorders: Exploring Links with Premonitory Urge, Anxiety and Quality of Life Type de document : texte imprimé Auteurs : Victoria PILE, Auteur ; Jennifer Y.F. LAU, Auteur ; Marta TOPOR, Auteur ; Tammy HEDDERLY, Auteur ; Sally ROBINSON, Auteur Article en page(s) : p.3474-3482 Langues : Anglais (eng) Mots-clés : Anxiety  Heartbeat perception  Interoceptive awareness  Tic disorders  Tourette syndrome Index. décimale : PER Périodiques Résumé : Aberrant interoceptive accuracy could contribute to the co-occurrence of anxiety and premonitory urge in chronic tic disorders (CTD). If it can be manipulated through intervention, it would offer a transdiagnostic treatment target for tics and anxiety. Interoceptive accuracy was first assessed consistent with previous protocols and then re-assessed following an instruction attempting to experimentally enhance awareness. The CTD group demonstrated lower interoceptive accuracy than controls but, importantly, this group difference was no longer significant following instruction. In the CTD group, better interoceptive accuracy was associated with higher anxiety and lower quality of life, but not with premonitory urge. Aberrant interoceptive accuracy may represent an underlying trait in CTD that can be manipulated, and relates to anxiety and quality of life. En ligne : http://dx.doi.org/10.1007/s10803-018-3608-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=369 [article] Interoceptive Accuracy in Youth with Tic Disorders: Exploring Links with Premonitory Urge, Anxiety and Quality of Life [texte imprimé] / Victoria PILE, Auteur ; Jennifer Y.F. LAU, Auteur ; Marta TOPOR, Auteur ; Tammy HEDDERLY, Auteur ; Sally ROBINSON, Auteur . - p.3474-3482. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 48-10 (October 2018) . - p.3474-3482 Mots-clés : Anxiety  Heartbeat perception  Interoceptive awareness  Tic disorders  Tourette syndrome Index. décimale : PER Périodiques Résumé : Aberrant interoceptive accuracy could contribute to the co-occurrence of anxiety and premonitory urge in chronic tic disorders (CTD). If it can be manipulated through intervention, it would offer a transdiagnostic treatment target for tics and anxiety. Interoceptive accuracy was first assessed consistent with previous protocols and then re-assessed following an instruction attempting to experimentally enhance awareness. The CTD group demonstrated lower interoceptive accuracy than controls but, importantly, this group difference was no longer significant following instruction. In the CTD group, better interoceptive accuracy was associated with higher anxiety and lower quality of life, but not with premonitory urge. Aberrant interoceptive accuracy may represent an underlying trait in CTD that can be manipulated, and relates to anxiety and quality of life. En ligne : http://dx.doi.org/10.1007/s10803-018-3608-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=369

Neurogenetic analysis of childhood disintegrative disorder / Abha R. GUPTA in Molecular Autism, 8 (2017)  

Public ISBD [article]  inMolecular Autism > 8 (2017) . - 19p. Titre : Neurogenetic analysis of childhood disintegrative disorder Type de document : texte imprimé Auteurs : Abha R. GUPTA, Auteur ; Alexander WESTPHAL, Auteur ; Daniel Y.J. YANG, Auteur ; Catherine A.W. SULLIVAN, Auteur ; Jeffrey EILBOTT, Auteur ; Samir ZAIDI, Auteur ; Avery VOOS, Auteur ; Brent C. VANDER WYK, Auteur ; Pamela VENTOLA, Auteur ; Zainulabedin WAQAR, Auteur ; Thomas V. FERNANDEZ, Auteur ; Adife Gulhan ERCAN-SENCICEK, Auteur ; Michael F. WALKER, Auteur ; M. CHOI, Auteur ; Andrea SCHNEIDER, Auteur ; Tammy HEDDERLY, Auteur ; Gillian BAIRD, Auteur ; Hannah FRIEDMAN, Auteur ; Cara CORDEAUX, Auteur ; Alexandra RISTOW, Auteur ; Frederick SHIC, Auteur ; Fred R. VOLKMAR, Auteur ; Kevin A. PELPHREY, Auteur Article en page(s) : 19p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder (ASD)  Childhood disintegrative disorder (CDD)  Eye tracking  Functional magnetic resonance imaging (fMRI)  Genetics  Intellectual disability (ID)  Regression Index. décimale : PER Périodiques Résumé : BACKGROUND: Childhood disintegrative disorder (CDD) is a rare form of autism spectrum disorder (ASD) of unknown etiology. It is characterized by late-onset regression leading to significant intellectual disability (ID) and severe autism. Although there are phenotypic differences between CDD and other forms of ASD, it is unclear if there are neurobiological differences. METHODS: We pursued a multidisciplinary study of CDD (n = 17) and three comparison groups: low-functioning ASD (n = 12), high-functioning ASD (n = 50), and typically developing (n = 26) individuals. We performed whole-exome sequencing (WES), copy number variant (CNV), and gene expression analyses of CDD and, on subsets of each cohort, non-sedated functional magnetic resonance imaging (fMRI) while viewing socioemotional (faces) and non-socioemotional (houses) stimuli and eye tracking while viewing emotional faces. RESULTS: We observed potential differences between CDD and other forms of ASD. WES and CNV analyses identified one or more rare de novo, homozygous, and/or hemizygous (mother-to-son transmission on chrX) variants for most probands that were not shared by unaffected sibling controls. There were no clearly deleterious variants or highly recurrent candidate genes. Candidate genes that were found to be most conserved at variant position and most intolerant of variation, such as TRRAP, ZNF236, and KIAA2018, play a role or may be involved in transcription. Using the human BrainSpan transcriptome dataset, CDD candidate genes were found to be more highly expressed in non-neocortical regions than neocortical regions. This expression profile was similar to that of an independent cohort of ASD probands with regression. The non-neocortical regions overlapped with those identified by fMRI as abnormally hyperactive in response to viewing faces, such as the thalamus, cerebellum, caudate, and hippocampus. Eye-tracking analysis showed that, among individuals with ASD, subjects with CDD focused on eyes the most when shown pictures of faces. CONCLUSIONS: Given that cohort sizes were limited by the rarity of CDD, and the challenges of conducting non-sedated fMRI and eye tracking in subjects with ASD and significant ID, this is an exploratory study designed to investigate the neurobiological features of CDD. In addition to reporting the first multimodal analysis of CDD, a combination of fMRI and eye-tracking analyses are being presented for the first time for low-functioning individuals with ASD. Our results suggest differences between CDD and other forms of ASD on the neurobiological as well as clinical level. En ligne : http://dx.doi.org/10.1186/s13229-017-0133-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330 [article] Neurogenetic analysis of childhood disintegrative disorder [texte imprimé] / Abha R. GUPTA, Auteur ; Alexander WESTPHAL, Auteur ; Daniel Y.J. YANG, Auteur ; Catherine A.W. SULLIVAN, Auteur ; Jeffrey EILBOTT, Auteur ; Samir ZAIDI, Auteur ; Avery VOOS, Auteur ; Brent C. VANDER WYK, Auteur ; Pamela VENTOLA, Auteur ; Zainulabedin WAQAR, Auteur ; Thomas V. FERNANDEZ, Auteur ; Adife Gulhan ERCAN-SENCICEK, Auteur ; Michael F. WALKER, Auteur ; M. CHOI, Auteur ; Andrea SCHNEIDER, Auteur ; Tammy HEDDERLY, Auteur ; Gillian BAIRD, Auteur ; Hannah FRIEDMAN, Auteur ; Cara CORDEAUX, Auteur ; Alexandra RISTOW, Auteur ; Frederick SHIC, Auteur ; Fred R. VOLKMAR, Auteur ; Kevin A. PELPHREY, Auteur . - 19p. Langues : Anglais (eng) in Molecular Autism > 8 (2017) . - 19p. Mots-clés : Autism spectrum disorder (ASD)  Childhood disintegrative disorder (CDD)  Eye tracking  Functional magnetic resonance imaging (fMRI)  Genetics  Intellectual disability (ID)  Regression Index. décimale : PER Périodiques Résumé : BACKGROUND: Childhood disintegrative disorder (CDD) is a rare form of autism spectrum disorder (ASD) of unknown etiology. It is characterized by late-onset regression leading to significant intellectual disability (ID) and severe autism. Although there are phenotypic differences between CDD and other forms of ASD, it is unclear if there are neurobiological differences. METHODS: We pursued a multidisciplinary study of CDD (n = 17) and three comparison groups: low-functioning ASD (n = 12), high-functioning ASD (n = 50), and typically developing (n = 26) individuals. We performed whole-exome sequencing (WES), copy number variant (CNV), and gene expression analyses of CDD and, on subsets of each cohort, non-sedated functional magnetic resonance imaging (fMRI) while viewing socioemotional (faces) and non-socioemotional (houses) stimuli and eye tracking while viewing emotional faces. RESULTS: We observed potential differences between CDD and other forms of ASD. WES and CNV analyses identified one or more rare de novo, homozygous, and/or hemizygous (mother-to-son transmission on chrX) variants for most probands that were not shared by unaffected sibling controls. There were no clearly deleterious variants or highly recurrent candidate genes. Candidate genes that were found to be most conserved at variant position and most intolerant of variation, such as TRRAP, ZNF236, and KIAA2018, play a role or may be involved in transcription. Using the human BrainSpan transcriptome dataset, CDD candidate genes were found to be more highly expressed in non-neocortical regions than neocortical regions. This expression profile was similar to that of an independent cohort of ASD probands with regression. The non-neocortical regions overlapped with those identified by fMRI as abnormally hyperactive in response to viewing faces, such as the thalamus, cerebellum, caudate, and hippocampus. Eye-tracking analysis showed that, among individuals with ASD, subjects with CDD focused on eyes the most when shown pictures of faces. CONCLUSIONS: Given that cohort sizes were limited by the rarity of CDD, and the challenges of conducting non-sedated fMRI and eye tracking in subjects with ASD and significant ID, this is an exploratory study designed to investigate the neurobiological features of CDD. In addition to reporting the first multimodal analysis of CDD, a combination of fMRI and eye-tracking analyses are being presented for the first time for low-functioning individuals with ASD. Our results suggest differences between CDD and other forms of ASD on the neurobiological as well as clinical level. En ligne : http://dx.doi.org/10.1186/s13229-017-0133-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330

Practitioner Review: Treatments for Tourette syndrome in children and young people – a systematic review / Craig WHITTINGTON in Journal of Child Psychology and Psychiatry, 57-9 (September 2016)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 57-9 (September 2016) . - p.988-1004 Titre : Practitioner Review: Treatments for Tourette syndrome in children and young people – a systematic review Type de document : texte imprimé Auteurs : Craig WHITTINGTON, Auteur ; Mary PENNANT, Auteur ; Tim KENDALL, Auteur ; Cristine GLAZEBROOK, Auteur ; Penny TRAYNER, Auteur ; Madeleine J. GROOM, Auteur ; Tammy HEDDERLY, Auteur ; Isobel HEYMAN, Auteur ; Georgina M. JACKSON, Auteur ; Stephen JACKSON, Auteur ; Tara MURPHY, Auteur ; Hugh RICKARDS, Auteur ; Mary ROBERTSON, Auteur ; Jeremy STERN, Auteur ; Chris HOLLIS, Auteur Article en page(s) : p.988-1004 Langues : Anglais (eng) Mots-clés : Paediatrics  Tourette syndrome  therapy  tics Index. décimale : PER Périodiques Résumé : Background Tourette syndrome (TS) and chronic tic disorder (CTD) affect 1–2% of children and young people, but the most effective treatment is unclear. To establish the current evidence base, we conducted a systematic review of interventions for children and young people. Methods Databases were searched from inception to 1 October 2014 for placebo-controlled trials of pharmacological, behavioural, physical or alternative interventions for tics in children and young people with TS or CTD. Certainty in the evidence was assessed with the GRADE approach. Results Forty trials were included [pharmacological (32), behavioural (5), physical (2), dietary (1)]. For tics/global score there was evidence favouring the intervention from four trials of α2-adrenergic receptor agonists [clonidine and guanfacine, standardised mean difference (SMD) = −0.71; 95% CI −1.03, −0.40; N = 164] and two trials of habit reversal training (HRT)/comprehensive behavioural intervention (CBIT) (SMD = −0.64; 95% CI −0.99, −0.29; N = 133). Certainty in the effect estimates was moderate. A post hoc analysis combining oral clonidine/guanfacine trials with a clonidine patch trial continued to demonstrate benefit (SMD = −0.54; 95% CI −0.92, −0.16), but statistical heterogeneity was high. Evidence from four trials suggested that antipsychotic drugs improved tic scores (SMD = −0.74; 95% CI −1.08, −0.40; N = 76), but certainty in the effect estimate was low. The evidence for other interventions was categorised as low or very low quality, or showed no conclusive benefit. Conclusions When medication is considered appropriate for the treatment of tics, the balance of clinical benefits to harm favours α2-adrenergic receptor agonists (clonidine and guanfacine) as first-line agents. Antipsychotics are likely to be useful but carry the risk of harm and so should be reserved for when α2-adrenergic receptor agonists are either ineffective or poorly tolerated. There is evidence that HRT/CBIT is effective, but there is no evidence for HRT/CBIT alone relative to combining medication and HRT/CBIT. There is currently no evidence to suggest that the physical and dietary interventions reviewed are sufficiently effective and safe to be considered as treatments. En ligne : http://dx.doi.org/10.1111/jcpp.12556 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=292 [article] Practitioner Review: Treatments for Tourette syndrome in children and young people – a systematic review [texte imprimé] / Craig WHITTINGTON, Auteur ; Mary PENNANT, Auteur ; Tim KENDALL, Auteur ; Cristine GLAZEBROOK, Auteur ; Penny TRAYNER, Auteur ; Madeleine J. GROOM, Auteur ; Tammy HEDDERLY, Auteur ; Isobel HEYMAN, Auteur ; Georgina M. JACKSON, Auteur ; Stephen JACKSON, Auteur ; Tara MURPHY, Auteur ; Hugh RICKARDS, Auteur ; Mary ROBERTSON, Auteur ; Jeremy STERN, Auteur ; Chris HOLLIS, Auteur . - p.988-1004. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 57-9 (September 2016) . - p.988-1004 Mots-clés : Paediatrics  Tourette syndrome  therapy  tics Index. décimale : PER Périodiques Résumé : Background Tourette syndrome (TS) and chronic tic disorder (CTD) affect 1–2% of children and young people, but the most effective treatment is unclear. To establish the current evidence base, we conducted a systematic review of interventions for children and young people. Methods Databases were searched from inception to 1 October 2014 for placebo-controlled trials of pharmacological, behavioural, physical or alternative interventions for tics in children and young people with TS or CTD. Certainty in the evidence was assessed with the GRADE approach. Results Forty trials were included [pharmacological (32), behavioural (5), physical (2), dietary (1)]. For tics/global score there was evidence favouring the intervention from four trials of α2-adrenergic receptor agonists [clonidine and guanfacine, standardised mean difference (SMD) = −0.71; 95% CI −1.03, −0.40; N = 164] and two trials of habit reversal training (HRT)/comprehensive behavioural intervention (CBIT) (SMD = −0.64; 95% CI −0.99, −0.29; N = 133). Certainty in the effect estimates was moderate. A post hoc analysis combining oral clonidine/guanfacine trials with a clonidine patch trial continued to demonstrate benefit (SMD = −0.54; 95% CI −0.92, −0.16), but statistical heterogeneity was high. Evidence from four trials suggested that antipsychotic drugs improved tic scores (SMD = −0.74; 95% CI −1.08, −0.40; N = 76), but certainty in the effect estimate was low. The evidence for other interventions was categorised as low or very low quality, or showed no conclusive benefit. Conclusions When medication is considered appropriate for the treatment of tics, the balance of clinical benefits to harm favours α2-adrenergic receptor agonists (clonidine and guanfacine) as first-line agents. Antipsychotics are likely to be useful but carry the risk of harm and so should be reserved for when α2-adrenergic receptor agonists are either ineffective or poorly tolerated. There is evidence that HRT/CBIT is effective, but there is no evidence for HRT/CBIT alone relative to combining medication and HRT/CBIT. There is currently no evidence to suggest that the physical and dietary interventions reviewed are sufficiently effective and safe to be considered as treatments. En ligne : http://dx.doi.org/10.1111/jcpp.12556 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=292

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