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 ; Sebastien JACQUEMONT ; Randi 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 et/ou numérique Auteurs : Kerri WHITLOCK, Auteur ; Cory ROSENFELT, Auteur ; Julie SHATTO, Auteur ; Brittany FINLAY, Auteur ; Jennifer ZWICKER, Auteur ; Sarah LIPPE, Auteur ; Sebastien JACQUEMONT, Auteur ; Randi 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 et/ou numérique] / Kerri WHITLOCK, Auteur ; Cory ROSENFELT, Auteur ; Julie SHATTO, Auteur ; Brittany FINLAY, Auteur ; Jennifer ZWICKER, Auteur ; Sarah LIPPE, Auteur ; Sebastien JACQUEMONT, Auteur ; Randi 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

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 et/ou numérique 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 ; Sebastien 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 et/ou numérique] / 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 ; Sebastien 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

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

Public ISBD [article]  inMolecular Autism > (June 2015) . - p.1-19 Titre : Sex differences in brain plasticity: a new hypothesis for sex ratio bias in autism Type de document : Texte imprimé et/ou numérique Auteurs : Laurent MOTTRON, Auteur ; Pauline DURET, Auteur ; Sophia MUELLER, Auteur ; Robert D. MOORE, Auteur ; Baudouin FORGEOT D'ARC, Auteur ; Sebastien JACQUEMONT, Auteur ; Lan XIONG, Auteur Article en page(s) : p.1-19 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Several observations support the hypothesis that differences in synaptic and regional cerebral plasticity between the sexes account for the high ratio of males to females in autism. First, males are more susceptible than females to perturbations in genes involved in synaptic plasticity. Second, sex-related differences in non-autistic brain structure and function are observed in highly variable regions, namely, the heteromodal associative cortices, and overlap with structural particularities and enhanced activity of perceptual associative regions in autistic individuals. Finally, functional cortical reallocations following brain lesions in non-autistic adults (for example, traumatic brain injury, multiple sclerosis) are sex-dependent. Interactions between genetic sex and hormones may therefore result in higher synaptic and consecutively regional plasticity in perceptual brain areas in males than in females. The onset of autism may largely involve mutations altering synaptic plasticity that create a plastic reaction affecting the most variable and sexually dimorphic brain regions. The sex ratio bias in autism may arise because males have a lower threshold than females for the development of this plastic reaction following a genetic or environmental event. En ligne : http://dx.doi.org/10.1186/s13229-015-0024-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Sex differences in brain plasticity: a new hypothesis for sex ratio bias in autism [Texte imprimé et/ou numérique] / Laurent MOTTRON, Auteur ; Pauline DURET, Auteur ; Sophia MUELLER, Auteur ; Robert D. MOORE, Auteur ; Baudouin FORGEOT D'ARC, Auteur ; Sebastien JACQUEMONT, Auteur ; Lan XIONG, Auteur . - p.1-19. Langues : Anglais (eng) in Molecular Autism > (June 2015) . - p.1-19 Index. décimale : PER Périodiques Résumé : Several observations support the hypothesis that differences in synaptic and regional cerebral plasticity between the sexes account for the high ratio of males to females in autism. First, males are more susceptible than females to perturbations in genes involved in synaptic plasticity. Second, sex-related differences in non-autistic brain structure and function are observed in highly variable regions, namely, the heteromodal associative cortices, and overlap with structural particularities and enhanced activity of perceptual associative regions in autistic individuals. Finally, functional cortical reallocations following brain lesions in non-autistic adults (for example, traumatic brain injury, multiple sclerosis) are sex-dependent. Interactions between genetic sex and hormones may therefore result in higher synaptic and consecutively regional plasticity in perceptual brain areas in males than in females. The onset of autism may largely involve mutations altering synaptic plasticity that create a plastic reaction affecting the most variable and sexually dimorphic brain regions. The sex ratio bias in autism may arise because males have a lower threshold than females for the development of this plastic reaction following a genetic or environmental event. En ligne : http://dx.doi.org/10.1186/s13229-015-0024-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

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