Bayonet-shaped language development in autism with regression: a retrospective study / David GAGNON in Molecular Autism, 12 (2021)  

Public ISBD [article]  inMolecular Autism > 12 (2021) . - 35 p. Titre : Bayonet-shaped language development in autism with regression: a retrospective study Type de document : texte imprimé Auteurs : David GAGNON, Auteur ; Abderrahim ZERIBI, Auteur ; Elise DOUARD, Auteur ; Valérie COURCHESNE, Auteur ; Borja RODRIGUEZ-HERREROS, Auteur ; Guillaume HUGUET, Auteur ; Sébastien JACQUEMONT, Auteur ; Mor Absa LOUM, Auteur ; Laurent MOTTRON, Auteur Article en page(s) : 35 p. Langues : Anglais (eng) Mots-clés : Autism  Heterogeneity  Language  Regression  Speech Index. décimale : PER Périodiques Résumé : BACKGROUND: Language delay is one of the major referral criteria for an autism evaluation. Once an autism spectrum diagnosis is established, the language prognosis is among the main parental concerns. Early language regression (ELR) is observed by 10-50% of parents but its relevance to late language level and socio-communicative ability is uncertain. This study aimed to establish the predictive value of ELR on the progression of language development and socio-communicative outcomes to guide clinicians in addressing parents' concerns at the time of diagnosis. METHODS: We used socio-communicative, language, and cognitive data of 2,047 autism spectrum participants from the Simons Simplex Collection, aged 4-18 years (mean = 9 years; SD = 3.6). Cox proportional hazard and logistic regression models were used to evaluate the effect of ELR on language milestones and the probability of using complex and flexible language, as defined by the choice of ADOS module at enrollment. Linear models were then used to evaluate the relationship of ELR and non-verbal IQ with socio-communicative and language levels. RESULTS: ELR is associated with earlier language milestones but delayed attainment of fluent, complex, and flexible language. However, this language outcome can be expected for almost all autistic children without intellectual disability at 18 years of age. It is mostly influenced by non-verbal IQ, not ELR. The language and socio-communicative level of participants with flexible language, as measured by the Vineland and ADOS socio-communicative subscales, was not affected by ELR. LIMITATIONS: This study is based on a relatively coarse measure of ultimate language level and relies on retrospective reporting of early language milestones and ELR. It does not prospectively document the age at which language catches up, the relationship between ELR and other behavioral areas of regression, nor the effects of intervention. CONCLUSIONS: For autistic individuals with ELR and a normal level of non-verbal intelligence, language development follows a "bayonet shape" trajectory: early first words followed by regression, a plateau with limited progress, and then language catch up. En ligne : http://dx.doi.org/10.1186/s13229-021-00444-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 [article] Bayonet-shaped language development in autism with regression: a retrospective study [texte imprimé] / David GAGNON, Auteur ; Abderrahim ZERIBI, Auteur ; Elise DOUARD, Auteur ; Valérie COURCHESNE, Auteur ; Borja RODRIGUEZ-HERREROS, Auteur ; Guillaume HUGUET, Auteur ; Sébastien JACQUEMONT, Auteur ; Mor Absa LOUM, Auteur ; Laurent MOTTRON, Auteur . - 35 p. Langues : Anglais (eng) in Molecular Autism > 12 (2021) . - 35 p. Mots-clés : Autism  Heterogeneity  Language  Regression  Speech Index. décimale : PER Périodiques Résumé : BACKGROUND: Language delay is one of the major referral criteria for an autism evaluation. Once an autism spectrum diagnosis is established, the language prognosis is among the main parental concerns. Early language regression (ELR) is observed by 10-50% of parents but its relevance to late language level and socio-communicative ability is uncertain. This study aimed to establish the predictive value of ELR on the progression of language development and socio-communicative outcomes to guide clinicians in addressing parents' concerns at the time of diagnosis. METHODS: We used socio-communicative, language, and cognitive data of 2,047 autism spectrum participants from the Simons Simplex Collection, aged 4-18 years (mean = 9 years; SD = 3.6). Cox proportional hazard and logistic regression models were used to evaluate the effect of ELR on language milestones and the probability of using complex and flexible language, as defined by the choice of ADOS module at enrollment. Linear models were then used to evaluate the relationship of ELR and non-verbal IQ with socio-communicative and language levels. RESULTS: ELR is associated with earlier language milestones but delayed attainment of fluent, complex, and flexible language. However, this language outcome can be expected for almost all autistic children without intellectual disability at 18 years of age. It is mostly influenced by non-verbal IQ, not ELR. The language and socio-communicative level of participants with flexible language, as measured by the Vineland and ADOS socio-communicative subscales, was not affected by ELR. LIMITATIONS: This study is based on a relatively coarse measure of ultimate language level and relies on retrospective reporting of early language milestones and ELR. It does not prospectively document the age at which language catches up, the relationship between ELR and other behavioral areas of regression, nor the effects of intervention. CONCLUSIONS: For autistic individuals with ELR and a normal level of non-verbal intelligence, language development follows a "bayonet shape" trajectory: early first words followed by regression, a plateau with limited progress, and then language catch up. En ligne : http://dx.doi.org/10.1186/s13229-021-00444-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459

Copy-number variants in the contactin-5 gene are a potential risk factor for autism spectrum disorder / Zoe SCHMILOVICH in Research in Autism Spectrum Disorders, 99 (November)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 99 (November) . - 102055 Titre : Copy-number variants in the contactin-5 gene are a potential risk factor for autism spectrum disorder Type de document : texte imprimé Auteurs : Zoe SCHMILOVICH, Auteur ; Guillaume HUGUET, Auteur ; Qin HE, Auteur ; Amélie MUSA-JOHNSON, Auteur ; Elise DOUARD, Auteur ; Mor Absa LOUM, Auteur ; Calwing LIAO, Auteur ; Jay P. ROSS, Auteur ; Alexandre DIONNE-LAPORTE, Auteur ; Dan SPIEGELMAN, Auteur ; Martineau JEAN-LOUIS, Auteur ; Zohra SACI, Auteur ; Caroline HAYWARD, Auteur ; Tobias BANASCHEWSKI, Auteur ; Arun L.W. BOKDE, Auteur ; Sylvane DESRIVIERES, Auteur ; Herve LEMAITRE, Auteur ; Gunter SCHUMANN, Auteur ; Lan XIONG, Auteur ; Patrick A. DION, Auteur ; Sébastien JACQUEMONT, Auteur ; Boris CHAUMETTE, Auteur ; Guy A. ROULEAU, Auteur Article en page(s) : 102055 Langues : Anglais (eng) Mots-clés : CNTN5  CNV  intronic deletions  neurodevelopment  inherited Index. décimale : PER Périodiques Résumé : Background Contactin-5 (CNTN5) is a candidate risk gene for autism spectrum disorder (ASD). Previous attempts to associate CNTN5 CNVs with ASD-susceptibility were limited by insufficient statistical power. Here, we aim to clarify the putative association between CNTN5 CNVs and ASD-risk using large-scale case-control analyses. Method A CNTN5 CNV, shared by four brothers in a multiplex family with ASD, was initially identified. We calculated the prevalence and transmission of CNTN5 CNVs in cases across five ASD cohorts (n=15,784). Second, we compared the prevalence of CNTN5 CNVs in cases to their unaffected siblings (n=4,996). Third, we assessed the enrichment of CNTN5 CNVs in cases to extrafamilial controls across three cohorts (n=24,886) and the UK Biobank (n = 459,862). Finally, we evaluated the clinical impact of CNTN5 CNVs in a broad neurodevelopmental disorder cohort and the DECIPHER database. Results Most (96.7%) CNTN5 CNV deletions (0.193%) and duplications (0.03%) in cases were inherited by a parent that transmitted the variant to their affected and unaffected children at the same rate. We identified a significant enrichment of intronic CNTN5 CNV deletions in cases compared to extrafamilial controls (0.178% versus 0.019%; p-value=1.68E-05; OR:8.51; 95%CI=[2.58-44.21]). There was no difference in CNTN5 CNV enrichment between cases and individuals with NDDs. Conclusions Intronic CNTN5 CNV deletions are rare, inherited, and intermediate effect size ASD-susceptibility variants that may also confer risk for other neuropsychiatric disorders. We offer a framework to characterize candidate variants that may not be detected through small-scale approaches to implicate intermediate effect size variants in the etiology of ASD. En ligne : https://doi.org/10.1016/j.rasd.2022.102055 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=490 [article] Copy-number variants in the contactin-5 gene are a potential risk factor for autism spectrum disorder [texte imprimé] / Zoe SCHMILOVICH, Auteur ; Guillaume HUGUET, Auteur ; Qin HE, Auteur ; Amélie MUSA-JOHNSON, Auteur ; Elise DOUARD, Auteur ; Mor Absa LOUM, Auteur ; Calwing LIAO, Auteur ; Jay P. ROSS, Auteur ; Alexandre DIONNE-LAPORTE, Auteur ; Dan SPIEGELMAN, Auteur ; Martineau JEAN-LOUIS, Auteur ; Zohra SACI, Auteur ; Caroline HAYWARD, Auteur ; Tobias BANASCHEWSKI, Auteur ; Arun L.W. BOKDE, Auteur ; Sylvane DESRIVIERES, Auteur ; Herve LEMAITRE, Auteur ; Gunter SCHUMANN, Auteur ; Lan XIONG, Auteur ; Patrick A. DION, Auteur ; Sébastien JACQUEMONT, Auteur ; Boris CHAUMETTE, Auteur ; Guy A. ROULEAU, Auteur . - 102055. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 99 (November) . - 102055 Mots-clés : CNTN5  CNV  intronic deletions  neurodevelopment  inherited Index. décimale : PER Périodiques Résumé : Background Contactin-5 (CNTN5) is a candidate risk gene for autism spectrum disorder (ASD). Previous attempts to associate CNTN5 CNVs with ASD-susceptibility were limited by insufficient statistical power. Here, we aim to clarify the putative association between CNTN5 CNVs and ASD-risk using large-scale case-control analyses. Method A CNTN5 CNV, shared by four brothers in a multiplex family with ASD, was initially identified. We calculated the prevalence and transmission of CNTN5 CNVs in cases across five ASD cohorts (n=15,784). Second, we compared the prevalence of CNTN5 CNVs in cases to their unaffected siblings (n=4,996). Third, we assessed the enrichment of CNTN5 CNVs in cases to extrafamilial controls across three cohorts (n=24,886) and the UK Biobank (n = 459,862). Finally, we evaluated the clinical impact of CNTN5 CNVs in a broad neurodevelopmental disorder cohort and the DECIPHER database. Results Most (96.7%) CNTN5 CNV deletions (0.193%) and duplications (0.03%) in cases were inherited by a parent that transmitted the variant to their affected and unaffected children at the same rate. We identified a significant enrichment of intronic CNTN5 CNV deletions in cases compared to extrafamilial controls (0.178% versus 0.019%; p-value=1.68E-05; OR:8.51; 95%CI=[2.58-44.21]). There was no difference in CNTN5 CNV enrichment between cases and individuals with NDDs. Conclusions Intronic CNTN5 CNV deletions are rare, inherited, and intermediate effect size ASD-susceptibility variants that may also confer risk for other neuropsychiatric disorders. We offer a framework to characterize candidate variants that may not be detected through small-scale approaches to implicate intermediate effect size variants in the etiology of ASD. En ligne : https://doi.org/10.1016/j.rasd.2022.102055 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=490

---

1 (1 - 2 / 2) Par page : 25 50 100 200