Analyzing the Quality of Life in Individuals with Fragile X Syndrome in Relation to Sleep and Mental Health / Kerri WHITLOCK ; Cory ROSENFELT ; Julie SHATTO ; Brittany FINLAY ; Jennifer ZWICKER ; Sarah LIPPE ; Sébastien JACQUEMONT ; Randi J. HAGERMAN ; Kara MURIAS ; Francois V. BOLDUC in Journal of Autism and Developmental Disorders, 55-5 (May 2025)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 55-5 (May 2025) . - p.1910-1922 Titre : Analyzing the Quality of Life in Individuals with Fragile X Syndrome in Relation to Sleep and Mental Health Type de document : texte imprimé Auteurs : Kerri WHITLOCK, Auteur ; Cory ROSENFELT, Auteur ; Julie SHATTO, Auteur ; Brittany FINLAY, Auteur ; Jennifer ZWICKER, Auteur ; Sarah LIPPE, Auteur ; Sébastien JACQUEMONT, Auteur ; Randi J. HAGERMAN, Auteur ; Kara MURIAS, Auteur ; Francois V. BOLDUC, Auteur Article en page(s) : p.1910-1922 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The purpose of this paper was to examine the physical, emotional, social and school functioning domains of quality of life of individuals with Fragile X Syndrome, in relation to mental health and sleep patterns to gain a better understanding of how these aspects are affected by the disorder. This study included 119 individuals with Fragile X Syndrome who were given different cognitive examinations by a neuropsychologist or by parent-proxy questionnaires. This study focused on the Pediatric Quality of Life Inventory (PedsQoL), the Anxiety, Depression and Mood Scale (ADAMS), the Children s Sleep Habits Questionnaire (CSHQ), but did include other cognitive tests (Vineland Adaptive Behaviour Scales, Nonverbal IQ, Autism Diagnostic Observation Schedule). We identified significant associations between decreases in emotional, social and school domains of PedsQoL and the ADAMS subtests of Generalized Anxiety, Manic/Hyperactivity and Obsessive/Compulsivity, with the subtest of Depressed Mood having associations with lower physical and emotional domains. We also identified a significant impact between CSHQ subtests of Sleep Anxiety, Night Wakings, Daytime Sleepiness, and Parasomnia with the emotional and school domains of PedsQoL. There were associations connecting school functioning with Bedtime Resistance, and additional associations connecting emotional functioning with Sleep Duration and Sleep Onset Delay. Physical functioning was also associated with Sleep Anxiety. Our study shows how mental health and sleep defects impact improper sleep patterns and mental health which leads to decreases in the quality of life for individuals with FXS, and how it is important to screen for these symptoms in order to alleviate issues. En ligne : https://doi.org/10.1007/s10803-024-06317-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=554 [article] Analyzing the Quality of Life in Individuals with Fragile X Syndrome in Relation to Sleep and Mental Health [texte imprimé] / Kerri WHITLOCK, Auteur ; Cory ROSENFELT, Auteur ; Julie SHATTO, Auteur ; Brittany FINLAY, Auteur ; Jennifer ZWICKER, Auteur ; Sarah LIPPE, Auteur ; Sébastien JACQUEMONT, Auteur ; Randi J. HAGERMAN, Auteur ; Kara MURIAS, Auteur ; Francois V. BOLDUC, Auteur . - p.1910-1922. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 55-5 (May 2025) . - p.1910-1922 Index. décimale : PER Périodiques Résumé : The purpose of this paper was to examine the physical, emotional, social and school functioning domains of quality of life of individuals with Fragile X Syndrome, in relation to mental health and sleep patterns to gain a better understanding of how these aspects are affected by the disorder. This study included 119 individuals with Fragile X Syndrome who were given different cognitive examinations by a neuropsychologist or by parent-proxy questionnaires. This study focused on the Pediatric Quality of Life Inventory (PedsQoL), the Anxiety, Depression and Mood Scale (ADAMS), the Children s Sleep Habits Questionnaire (CSHQ), but did include other cognitive tests (Vineland Adaptive Behaviour Scales, Nonverbal IQ, Autism Diagnostic Observation Schedule). We identified significant associations between decreases in emotional, social and school domains of PedsQoL and the ADAMS subtests of Generalized Anxiety, Manic/Hyperactivity and Obsessive/Compulsivity, with the subtest of Depressed Mood having associations with lower physical and emotional domains. We also identified a significant impact between CSHQ subtests of Sleep Anxiety, Night Wakings, Daytime Sleepiness, and Parasomnia with the emotional and school domains of PedsQoL. There were associations connecting school functioning with Bedtime Resistance, and additional associations connecting emotional functioning with Sleep Duration and Sleep Onset Delay. Physical functioning was also associated with Sleep Anxiety. Our study shows how mental health and sleep defects impact improper sleep patterns and mental health which leads to decreases in the quality of life for individuals with FXS, and how it is important to screen for these symptoms in order to alleviate issues. En ligne : https://doi.org/10.1007/s10803-024-06317-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=554

Auditory repetition suppression alterations in relation to cognitive functioning in fragile X syndrome: a combined EEG and machine learning approach / Inga Sophia KNOTH in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.4 Titre : Auditory repetition suppression alterations in relation to cognitive functioning in fragile X syndrome: a combined EEG and machine learning approach Type de document : texte imprimé Auteurs : Inga Sophia KNOTH, Auteur ; Tarek LAJNEF, Auteur ; Simon RIGOULOT, Auteur ; Karine LACOURSE, Auteur ; Phetsamone VANNASING, Auteur ; Jacques L. MICHAUD, Auteur ; Sébastien JACQUEMONT, Auteur ; Philippe MAJOR, Auteur ; Karim JERBI, Auteur ; S. LIPPE, Auteur Article en page(s) : p.4 Langues : Anglais (eng) Mots-clés : Cognition  Eeg  Fragile X syndrome  Habituation  Iq  Intellectual disability  Machine learning  Repetition suppression Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is a neurodevelopmental genetic disorder causing cognitive and behavioural deficits. Repetition suppression (RS), a learning phenomenon in which stimulus repetitions result in diminished brain activity, has been found to be impaired in FXS. Alterations in RS have been associated with behavioural problems in FXS; however, relations between RS and intellectual functioning have not yet been elucidated. METHODS: EEG was recorded in 14 FXS participants and 25 neurotypical controls during an auditory habituation paradigm using repeatedly presented pseudowords. Non-phased locked signal energy was compared across presentations and between groups using linear mixed models (LMMs) in order to investigate RS effects across repetitions and brain areas and a possible relation to non-verbal IQ (NVIQ) in FXS. In addition, we explored group differences according to NVIQ and we probed the feasibility of training a support vector machine to predict cognitive functioning levels across FXS participants based on single-trial RS features. RESULTS: LMM analyses showed that repetition effects differ between groups (FXS vs. controls) as well as with respect to NVIQ in FXS. When exploring group differences in RS patterns, we found that neurotypical controls revealed the expected pattern of RS between the first and second presentations of a pseudoword. More importantly, while FXS participants in the 42 NVIQ group showed a delayed RS response after several presentations. Concordantly, single-trial estimates of repetition effects over the first four repetitions provided the highest decoding accuracies in the classification between the FXS participant groups. CONCLUSION: Electrophysiological measures of repetition effects provide a non-invasive and unbiased measure of brain responses sensitive to cognitive functioning levels, which may be useful for clinical trials in FXS. En ligne : http://dx.doi.org/10.1186/s11689-018-9223-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351 [article] Auditory repetition suppression alterations in relation to cognitive functioning in fragile X syndrome: a combined EEG and machine learning approach [texte imprimé] / Inga Sophia KNOTH, Auteur ; Tarek LAJNEF, Auteur ; Simon RIGOULOT, Auteur ; Karine LACOURSE, Auteur ; Phetsamone VANNASING, Auteur ; Jacques L. MICHAUD, Auteur ; Sébastien JACQUEMONT, Auteur ; Philippe MAJOR, Auteur ; Karim JERBI, Auteur ; S. LIPPE, Auteur . - p.4. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.4 Mots-clés : Cognition  Eeg  Fragile X syndrome  Habituation  Iq  Intellectual disability  Machine learning  Repetition suppression Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is a neurodevelopmental genetic disorder causing cognitive and behavioural deficits. Repetition suppression (RS), a learning phenomenon in which stimulus repetitions result in diminished brain activity, has been found to be impaired in FXS. Alterations in RS have been associated with behavioural problems in FXS; however, relations between RS and intellectual functioning have not yet been elucidated. METHODS: EEG was recorded in 14 FXS participants and 25 neurotypical controls during an auditory habituation paradigm using repeatedly presented pseudowords. Non-phased locked signal energy was compared across presentations and between groups using linear mixed models (LMMs) in order to investigate RS effects across repetitions and brain areas and a possible relation to non-verbal IQ (NVIQ) in FXS. In addition, we explored group differences according to NVIQ and we probed the feasibility of training a support vector machine to predict cognitive functioning levels across FXS participants based on single-trial RS features. RESULTS: LMM analyses showed that repetition effects differ between groups (FXS vs. controls) as well as with respect to NVIQ in FXS. When exploring group differences in RS patterns, we found that neurotypical controls revealed the expected pattern of RS between the first and second presentations of a pseudoword. More importantly, while FXS participants in the 42 NVIQ group showed a delayed RS response after several presentations. Concordantly, single-trial estimates of repetition effects over the first four repetitions provided the highest decoding accuracies in the classification between the FXS participant groups. CONCLUSION: Electrophysiological measures of repetition effects provide a non-invasive and unbiased measure of brain responses sensitive to cognitive functioning levels, which may be useful for clinical trials in FXS. En ligne : http://dx.doi.org/10.1186/s11689-018-9223-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351

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

Clinical correlates of diagnostic certainty in children and youths with Autistic Disorder / Eya-Mist RØDGAARD in Molecular Autism, 15 (2024)  

Public ISBD [article]  inMolecular Autism > 15 (2024) . - 15p. Titre : Clinical correlates of diagnostic certainty in children and youths with Autistic Disorder Type de document : texte imprimé Auteurs : Eya-Mist RØDGAARD, Auteur ; Borja RODRIGUEZ-HERREROS, Auteur ; Abderrahim ZERIBI, Auteur ; Kristian JENSEN, Auteur ; Valérie COURCHESNE, Auteur ; Elise DOUARD, Auteur ; David GAGNON, Auteur ; Guillaume HUGUET, Auteur ; Sébastien JACQUEMONT, Auteur ; Laurent MOTTRON, Auteur Article en page(s) : 15p. Langues : Anglais (eng) Mots-clés : Child  Humans  Adolescent  Child, Preschool  Autistic Disorder/diagnosis  Language  Autism Spectrum Disorder/diagnosis  Ados  Certainty  Diagnosis  Macrocephaly Index. décimale : PER Périodiques Résumé : BACKGROUND: Clinicians diagnosing autism rely on diagnostic criteria and instruments in combination with an implicit knowledge based on clinical expertise of the specific signs and presentations associated with the condition. This implicit knowledge influences how diagnostic criteria are interpreted, but it cannot be directly observed. Instead, insight into clinicians' understanding of autism can be gained by investigating their diagnostic certainty. Modest correlations between the certainty of an autism diagnosis and symptom load have been previously reported. Here, we investigated the associations of diagnostic certainty with specific items of the ADOS as well as other clinical features including head circumference. METHODS: Phenotypic data from the Simons Simplex Collection was used to investigate clinical correlates of diagnostic certainty in individuals diagnosed with Autistic Disorder (n = 1511, age 4 to 18 years). Participants were stratified by the ADOS module used to evaluate them. We investigated how diagnostic certainty was associated with total ADOS scores, age, and ADOS module. We calculated the odds-ratios of being diagnosed with the highest possible certainty given the presence or absence of different signs during the ADOS evaluation. Associations between diagnostic certainty and other cognitive and clinical variables were also assessed. RESULTS: In each ADOS module, some items showed a larger association with diagnostic certainty than others. Head circumference was significantly higher for individuals with the highest certainty rating across all three ADOS modules. In turn, head circumference was positively correlated with some of the ADOS items that were associated with diagnostic certainty, and was negatively correlated with verbal/nonverbal IQ ratio among those assessed with ADOS module 2. LIMITATIONS: The investigated cohort was heterogeneous, e.g. in terms of age, IQ, language level, and total ADOS score, which could impede the identification of associations that only exist in a subgroup of the population. The variability of the certainty ratings in the sample was low, limiting the power to identify potential associations with other variables. Additionally, the scoring of diagnostic certainty may vary between clinicians. CONCLUSION: Some ADOS items may better capture the signs that are most associated with clinicians' implicit knowledge of Autistic Disorder. If replicated in future studies, new diagnostic instruments with differentiated weighting of signs may be needed to better reflect this, possibly resulting in better specificity in standardized assessments. En ligne : https://dx.doi.org/10.1186/s13229-024-00592-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538 [article] Clinical correlates of diagnostic certainty in children and youths with Autistic Disorder [texte imprimé] / Eya-Mist RØDGAARD, Auteur ; Borja RODRIGUEZ-HERREROS, Auteur ; Abderrahim ZERIBI, Auteur ; Kristian JENSEN, Auteur ; Valérie COURCHESNE, Auteur ; Elise DOUARD, Auteur ; David GAGNON, Auteur ; Guillaume HUGUET, Auteur ; Sébastien JACQUEMONT, Auteur ; Laurent MOTTRON, Auteur . - 15p. Langues : Anglais (eng) in Molecular Autism > 15 (2024) . - 15p. Mots-clés : Child  Humans  Adolescent  Child, Preschool  Autistic Disorder/diagnosis  Language  Autism Spectrum Disorder/diagnosis  Ados  Certainty  Diagnosis  Macrocephaly Index. décimale : PER Périodiques Résumé : BACKGROUND: Clinicians diagnosing autism rely on diagnostic criteria and instruments in combination with an implicit knowledge based on clinical expertise of the specific signs and presentations associated with the condition. This implicit knowledge influences how diagnostic criteria are interpreted, but it cannot be directly observed. Instead, insight into clinicians' understanding of autism can be gained by investigating their diagnostic certainty. Modest correlations between the certainty of an autism diagnosis and symptom load have been previously reported. Here, we investigated the associations of diagnostic certainty with specific items of the ADOS as well as other clinical features including head circumference. METHODS: Phenotypic data from the Simons Simplex Collection was used to investigate clinical correlates of diagnostic certainty in individuals diagnosed with Autistic Disorder (n = 1511, age 4 to 18 years). Participants were stratified by the ADOS module used to evaluate them. We investigated how diagnostic certainty was associated with total ADOS scores, age, and ADOS module. We calculated the odds-ratios of being diagnosed with the highest possible certainty given the presence or absence of different signs during the ADOS evaluation. Associations between diagnostic certainty and other cognitive and clinical variables were also assessed. RESULTS: In each ADOS module, some items showed a larger association with diagnostic certainty than others. Head circumference was significantly higher for individuals with the highest certainty rating across all three ADOS modules. In turn, head circumference was positively correlated with some of the ADOS items that were associated with diagnostic certainty, and was negatively correlated with verbal/nonverbal IQ ratio among those assessed with ADOS module 2. LIMITATIONS: The investigated cohort was heterogeneous, e.g. in terms of age, IQ, language level, and total ADOS score, which could impede the identification of associations that only exist in a subgroup of the population. The variability of the certainty ratings in the sample was low, limiting the power to identify potential associations with other variables. Additionally, the scoring of diagnostic certainty may vary between clinicians. CONCLUSION: Some ADOS items may better capture the signs that are most associated with clinicians' implicit knowledge of Autistic Disorder. If replicated in future studies, new diagnostic instruments with differentiated weighting of signs may be needed to better reflect this, possibly resulting in better specificity in standardized assessments. En ligne : https://dx.doi.org/10.1186/s13229-024-00592-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538

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

Sex differences in brain plasticity: a new hypothesis for sex ratio bias in autism / Laurent MOTTRON in Molecular Autism, (June 2015)  

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Specific EEG resting state biomarkers in FXS and ASD / Mélodie PROTEAU-LEMIEUX in Journal of Neurodevelopmental Disorders, 16 (2024)  

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