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

Behavioral Phenotype Associations With Resting State EEG Signal Complexity and Power Spectral Density in Fragile X Syndrome / Mélodie PROTEAU-LEMIEUX in Autism Research, 19-3 (March 2026)  

Public ISBD [article]  inAutism Research > 19-3 (March 2026) . - e70194 Titre : Behavioral Phenotype Associations With Resting State EEG Signal Complexity and Power Spectral Density in Fragile X Syndrome Type de document : texte imprimé Auteurs : Mélodie PROTEAU-LEMIEUX, Auteur ; Inga S. KNOTH, Auteur ; Saeideh DAVOUDI, Auteur ; Rae BUCKSER, Auteur ; Charles-Olivier MARTIN, Auteur ; Anne-Marie BÉLANGER, Auteur ; Valérie K. FONTAINE, Auteur ; Hazel Maridith Barlahan BIAG, Auteur ; Leonard ABBEDUTO, Auteur ; Sébastien JACQUEMONT, Auteur ; David HESSL, Auteur ; Randi J. HAGERMAN, Auteur ; Andrea SCHNEIDER, Auteur ; Francois V. BOLDUC, Auteur ; Sarah LIPPE, Auteur Article en page(s) : e70194 Langues : Anglais (eng) Mots-clés : behavior  cognition  EEG  fragile X syndrome  PSD  resting state  signal complexity Index. décimale : PER Périodiques Résumé : ABSTRACT Fragile X Syndrome (FXS), an X-linked genetic condition, is associated with a wide range of phenotypic manifestations, namely intellectual disability (ID), autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and atypical behaviors. Individuals with FXS present robust electrophysiological (EEG) alterations, notably on signal complexity and power spectral density (PSD) resting state measures. To which extent they are associated to specific behavioral phenotypes in the FXS population remains to be comprehensively addressed. This study aimed to investigate the relations between resting state EEG markers and the most frequently observed symptoms in FXS. EEG and behavioral data from 41 individuals with FXS aged between 7 and 34?years old were collected, and correlational approaches were used to analyze the associations between EEG markers and symptomatology. We observed positive associations between complexity in higher scales and non-verbal intelligence quotient (NVIQ). Reduced alpha power, a robust biomarker in FXS, was associated with more social avoidance, a hallmark in FXS. Decreased high gamma power was linked to hyperactive symptoms. Our results suggest powerful relations between known biomarkers and core symptoms in FXS, highlighting that EEG biomarkers correspond to symptom severity which further supports their potential as objective, translational treatment outcome measures. En ligne : https://doi.org/10.1002/aur.70194 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=583 [article] Behavioral Phenotype Associations With Resting State EEG Signal Complexity and Power Spectral Density in Fragile X Syndrome [texte imprimé] / Mélodie PROTEAU-LEMIEUX, Auteur ; Inga S. KNOTH, Auteur ; Saeideh DAVOUDI, Auteur ; Rae BUCKSER, Auteur ; Charles-Olivier MARTIN, Auteur ; Anne-Marie BÉLANGER, Auteur ; Valérie K. FONTAINE, Auteur ; Hazel Maridith Barlahan BIAG, Auteur ; Leonard ABBEDUTO, Auteur ; Sébastien JACQUEMONT, Auteur ; David HESSL, Auteur ; Randi J. HAGERMAN, Auteur ; Andrea SCHNEIDER, Auteur ; Francois V. BOLDUC, Auteur ; Sarah LIPPE, Auteur . - e70194. Langues : Anglais (eng) in Autism Research > 19-3 (March 2026) . - e70194 Mots-clés : behavior  cognition  EEG  fragile X syndrome  PSD  resting state  signal complexity Index. décimale : PER Périodiques Résumé : ABSTRACT Fragile X Syndrome (FXS), an X-linked genetic condition, is associated with a wide range of phenotypic manifestations, namely intellectual disability (ID), autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and atypical behaviors. Individuals with FXS present robust electrophysiological (EEG) alterations, notably on signal complexity and power spectral density (PSD) resting state measures. To which extent they are associated to specific behavioral phenotypes in the FXS population remains to be comprehensively addressed. This study aimed to investigate the relations between resting state EEG markers and the most frequently observed symptoms in FXS. EEG and behavioral data from 41 individuals with FXS aged between 7 and 34?years old were collected, and correlational approaches were used to analyze the associations between EEG markers and symptomatology. We observed positive associations between complexity in higher scales and non-verbal intelligence quotient (NVIQ). Reduced alpha power, a robust biomarker in FXS, was associated with more social avoidance, a hallmark in FXS. Decreased high gamma power was linked to hyperactive symptoms. Our results suggest powerful relations between known biomarkers and core symptoms in FXS, highlighting that EEG biomarkers correspond to symptom severity which further supports their potential as objective, translational treatment outcome measures. En ligne : https://doi.org/10.1002/aur.70194 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=583

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)  

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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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