4 recherche sur le mot-clé 'clinical'

Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome / Jenny DOWNS in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome Type de document : texte imprimé Auteurs : Jenny DOWNS, Auteur ; Kingsley WONG, Auteur ; Helen LEONARD, Auteur Langues : Anglais (eng) Mots-clés : Humans  Rett Syndrome/physiopathology/genetics/complications  Female  Male  Child  Adult  Cross-Sectional Studies  Child, Preschool  Phenotype  Adolescent  Middle Aged  Young Adult  Surveys and Questionnaires  Genotype  Methyl-CpG-Binding Protein 2/genetics  Australia  Sleep Wake Disorders/physiopathology  Behaviour  Outcome measure  Rett syndrome  Taysha  Clinical Trials with Anavex and Newron  All remuneration has been made to  her department. HL: Consultancy for Marinus, Acadia, Avexis and Orion  Clinical  Trials with Anavex and Newron  All remuneration has been made to her department.  KW: Has no competing interests. Index. décimale : PER Périodiques Résumé : INTRODUCTION: Rett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT. Little is known how RSBQ scores are associated with genetic and clinical characteristics in RTT. This study investigated relationships between genotype, age, walking, hand function, sleep, and RSBQ total and subscale scores in RTT. METHODS: This is a cross-sectional analysis of data collected in the Australian Rett Syndrome Database and the International Rett Syndrome Phenotype Database. Parent caregivers completed the RSBQ and Sleep Disturbance Scale for Children [subscales for disorders of initiating and maintaining sleep (DIMS), disorders of excessive somnolence (DOES)], and provided information on age, variant type, functional abilities (mobility, hand function), seizure frequency and gastrointestinal problems. Associations between the RSBQ scores and the independent variables were modelled using linear regression. RESULTS: Data were available for 365 individuals with RTT [median (range) age 17.8 (2.9-51.9) years, 2 males]. Compared to adults, 2- to 12-year-old children had higher mean Total, Night-time Behaviour and Fear/Anxiety scores. Compared to individuals with a C-terminal deletion, individuals with the p.Arg255* variant had higher mean Total and Night-time Behaviours scores, whereas the p.Arg294* variant had higher mean Mood scores. Individuals with intermediate mobility and hand function abilities had a higher mean Total score. Total RSBQ and subscale scores were similar across categories for seizures, constipation, and reflux, but were higher with abnormal DIMS and abnormal DOES scores. CONCLUSION: Except for associations with sleep, the RSBQ measures the behavioural phenotype rather than clinical severity in RTT, as traditionally conceptualised in terms of functional abilities and comorbidities. When designing clinical trials, the RSBQ needs to be complemented by other outcome measures to assess specific core functions and associated comorbidities in RTT. En ligne : https://dx.doi.org/10.1186/s11689-024-09575-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome [texte imprimé] / Jenny DOWNS, Auteur ; Kingsley WONG, Auteur ; Helen LEONARD, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Rett Syndrome/physiopathology/genetics/complications  Female  Male  Child  Adult  Cross-Sectional Studies  Child, Preschool  Phenotype  Adolescent  Middle Aged  Young Adult  Surveys and Questionnaires  Genotype  Methyl-CpG-Binding Protein 2/genetics  Australia  Sleep Wake Disorders/physiopathology  Behaviour  Outcome measure  Rett syndrome  Taysha  Clinical Trials with Anavex and Newron  All remuneration has been made to  her department. HL: Consultancy for Marinus, Acadia, Avexis and Orion  Clinical  Trials with Anavex and Newron  All remuneration has been made to her department.  KW: Has no competing interests. Index. décimale : PER Périodiques Résumé : INTRODUCTION: Rett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT. Little is known how RSBQ scores are associated with genetic and clinical characteristics in RTT. This study investigated relationships between genotype, age, walking, hand function, sleep, and RSBQ total and subscale scores in RTT. METHODS: This is a cross-sectional analysis of data collected in the Australian Rett Syndrome Database and the International Rett Syndrome Phenotype Database. Parent caregivers completed the RSBQ and Sleep Disturbance Scale for Children [subscales for disorders of initiating and maintaining sleep (DIMS), disorders of excessive somnolence (DOES)], and provided information on age, variant type, functional abilities (mobility, hand function), seizure frequency and gastrointestinal problems. Associations between the RSBQ scores and the independent variables were modelled using linear regression. RESULTS: Data were available for 365 individuals with RTT [median (range) age 17.8 (2.9-51.9) years, 2 males]. Compared to adults, 2- to 12-year-old children had higher mean Total, Night-time Behaviour and Fear/Anxiety scores. Compared to individuals with a C-terminal deletion, individuals with the p.Arg255* variant had higher mean Total and Night-time Behaviours scores, whereas the p.Arg294* variant had higher mean Mood scores. Individuals with intermediate mobility and hand function abilities had a higher mean Total score. Total RSBQ and subscale scores were similar across categories for seizures, constipation, and reflux, but were higher with abnormal DIMS and abnormal DOES scores. CONCLUSION: Except for associations with sleep, the RSBQ measures the behavioural phenotype rather than clinical severity in RTT, as traditionally conceptualised in terms of functional abilities and comorbidities. When designing clinical trials, the RSBQ needs to be complemented by other outcome measures to assess specific core functions and associated comorbidities in RTT. En ligne : https://dx.doi.org/10.1186/s11689-024-09575-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Internalizing Symptoms Mediate the Relation Between Acute Pain and Autism in Adults / Domingo GARCIA-VILLAMISAR in Journal of Autism and Developmental Disorders, 49-1 (January 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-1 (January 2019) . - p.270-278 Titre : Internalizing Symptoms Mediate the Relation Between Acute Pain and Autism in Adults Type de document : texte imprimé Auteurs : Domingo GARCIA-VILLAMISAR, Auteur ; D. MOORE, Auteur ; M. GARCIA-MARTINEZ, Auteur Article en page(s) : p.270-278 Langues : Anglais (eng) Mots-clés : Asd  Autism  Clinical  Mediation analysis  Pain Index. décimale : PER Périodiques Résumé : Research on pain in autism spectrum disorder (ASD) is in its infancy, with almost nothing known about how individual differences may predicting pain response in ASD. In the present study, 45 adults (28 male, age 22-48 years) with diagnoses of autism and intellectual delay were observed during vaccination or dental cleaning and their pain behaviours coded and measures of autism symptom severity, anxiety, depression and obsessivity taken. Our findings showed that greater autism severity predicted greater pain response which was partially mediated by anxiety and depression. These data suggest that mental health symptoms are important when considering pain response in autism. Mood must therefore be considered in future research on pain in ASD as well as clinical pain management. En ligne : http://dx.doi.org/10.1007/s10803-018-3765-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=377 [article] Internalizing Symptoms Mediate the Relation Between Acute Pain and Autism in Adults [texte imprimé] / Domingo GARCIA-VILLAMISAR, Auteur ; D. MOORE, Auteur ; M. GARCIA-MARTINEZ, Auteur . - p.270-278. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-1 (January 2019) . - p.270-278 Mots-clés : Asd  Autism  Clinical  Mediation analysis  Pain Index. décimale : PER Périodiques Résumé : Research on pain in autism spectrum disorder (ASD) is in its infancy, with almost nothing known about how individual differences may predicting pain response in ASD. In the present study, 45 adults (28 male, age 22-48 years) with diagnoses of autism and intellectual delay were observed during vaccination or dental cleaning and their pain behaviours coded and measures of autism symptom severity, anxiety, depression and obsessivity taken. Our findings showed that greater autism severity predicted greater pain response which was partially mediated by anxiety and depression. These data suggest that mental health symptoms are important when considering pain response in autism. Mood must therefore be considered in future research on pain in ASD as well as clinical pain management. En ligne : http://dx.doi.org/10.1007/s10803-018-3765-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=377

Medical symptoms and conditions in autistic women / Tslil SIMANTOV in Autism, 26-2 (February 2022)  

Public ISBD [article]  inAutism > 26-2 (February 2022) . - p.373-388 Titre : Medical symptoms and conditions in autistic women Type de document : texte imprimé Auteurs : Tslil SIMANTOV, Auteur ; Alexa POHL, Auteur ; Alexandros TSOMPANIDIS, Auteur ; Elizabeth WEIR, Auteur ; Michael V. LOMBARDO, Auteur ; Amber N.V. RUIGROK, Auteur ; Paula SMITH, Auteur ; Carrie ALLISON, Auteur ; Simon BARON-COHEN, Auteur ; Florina UZEFOVSKY, Auteur Article en page(s) : p.373-388 Langues : Anglais (eng) Mots-clés : autism  clinical  females  puberty  steroids  testosterone Index. décimale : PER Périodiques Résumé : Sex-steroids, such as testosterone, are thought to be one of the biological factors implicated in autism. This relies on the sex bias in the diagnosis of autism (boys are approximately four times more likely to be diagnosed than girls) and findings of associations with fetal testosterone levels in traits and abilities related to autism. The current study aimed to examine the association between medical conditions and physical symptoms, which tend to manifest in adulthood, and autism in females. Moreover, we examined their association with autistic traits throughout the spectrum. We focused on autistic women because there is little research focusing on the healthcare needs of autistic women, but those that exist suggest heightened vulnerability, and lower access to medical care. We find that conditions related to steroid hormones function are more frequent in autistic women and that they correlate with autistic traits. Specifically, we found that body mass index, reproductive system diagnoses, prediabetes symptoms, irregular puberty onset, and menstrual irregularities were significantly more frequent in autistic women and were significantly correlated with autistic traits in neurotypical women. The findings have important implications for raising awareness in autistic women of the possibility of medical conditions which might need medical attention. In addition, healthcare providers should consider these associations when performing healthcare maintenance checks and/or screening for autism. En ligne : http://dx.doi.org/10.1177/13623613211022091 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452 [article] Medical symptoms and conditions in autistic women [texte imprimé] / Tslil SIMANTOV, Auteur ; Alexa POHL, Auteur ; Alexandros TSOMPANIDIS, Auteur ; Elizabeth WEIR, Auteur ; Michael V. LOMBARDO, Auteur ; Amber N.V. RUIGROK, Auteur ; Paula SMITH, Auteur ; Carrie ALLISON, Auteur ; Simon BARON-COHEN, Auteur ; Florina UZEFOVSKY, Auteur . - p.373-388. Langues : Anglais (eng) in Autism > 26-2 (February 2022) . - p.373-388 Mots-clés : autism  clinical  females  puberty  steroids  testosterone Index. décimale : PER Périodiques Résumé : Sex-steroids, such as testosterone, are thought to be one of the biological factors implicated in autism. This relies on the sex bias in the diagnosis of autism (boys are approximately four times more likely to be diagnosed than girls) and findings of associations with fetal testosterone levels in traits and abilities related to autism. The current study aimed to examine the association between medical conditions and physical symptoms, which tend to manifest in adulthood, and autism in females. Moreover, we examined their association with autistic traits throughout the spectrum. We focused on autistic women because there is little research focusing on the healthcare needs of autistic women, but those that exist suggest heightened vulnerability, and lower access to medical care. We find that conditions related to steroid hormones function are more frequent in autistic women and that they correlate with autistic traits. Specifically, we found that body mass index, reproductive system diagnoses, prediabetes symptoms, irregular puberty onset, and menstrual irregularities were significantly more frequent in autistic women and were significantly correlated with autistic traits in neurotypical women. The findings have important implications for raising awareness in autistic women of the possibility of medical conditions which might need medical attention. In addition, healthcare providers should consider these associations when performing healthcare maintenance checks and/or screening for autism. En ligne : http://dx.doi.org/10.1177/13623613211022091 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452

Transgender and gender-diverse autistic adolescents are at elevated risk of depression / Joseph PEREIRA in Autism, 30-2 (February 2026)  

Public ISBD [article]  inAutism > 30-2 (February 2026) . - p.316-328 Titre : Transgender and gender-diverse autistic adolescents are at elevated risk of depression Type de document : texte imprimé Auteurs : Joseph PEREIRA, Auteur ; Natalia RAMOS, Auteur ; LeeAnne Green SNYDER, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Amandeep JUTLA, Auteur Article en page(s) : p.316-328 Langues : Anglais (eng) Mots-clés : autism  clinical  diagnoses  gender  topics Index. décimale : PER Périodiques Résumé : Autistic people are more likely to be transgender and gender diverse than the general population. Furthermore, co-occurring trait-level autism and transgender and gender-diverse identity are associated with symptoms of depression and anxiety, and autistic adolescents who identify as transgender and gender diverse have more internalizing behaviors than both non-transgender and gender-diverse autistic adolescents and non-autistic transgender and gender-diverse adolescents. However, no study has yet examined the extent to which transgender and gender-diverse identity predicts specific co-occurring mental health diagnoses in autistic adolescents. In a sample of 9027 autistic adolescents aged 13 to 17 drawn from the Simons Powering Autism Research for Knowledge cohort, 36 of whom we identified as transgender and gender diverse, we estimated univariate models of transgender and gender-diverse identity as a predictor of individual diagnoses. Depression, but no other diagnosis, remained statistically significant after adjustment for multiple comparisons. In a multiple regression model that incorporated known risk factors for adolescent depression (e.g. language impairment and disturbed sleep), transgender and gender-diverse identity remained a significant predictor (odds ratio: 4.01, 95% confidence interval: 1.87–8.67, p = 5.94 × 10−4) with an effect size at least as strong as that of a depression family history. This suggests transgender and gender-diverse autistic adolescents, who often face stigma and discrimination, are particularly vulnerable to depression.Lay abstract “Transgender and gender diverse” (TGD) people have gender identities that differ from the sex they were assigned at birth. Many autistic people have a TGD identity. Autistic adolescents who are TGD have more “internalizing symptoms,” which include symptoms of depression and anxiety, than autistic adolescents who are not TGD. In this study, we examined a group of 9027 autistic adolescents, 36 of whom had a TGD identity, to determine which, if any, mental health diagnoses would be associated with TGD identity, and whether those associations would remain even after accounting for known risk factors for a diagnosis. We found that depression, but no other diagnosis, was associated with TGD identity. This association remained even when accounting for known risk factors for depression, and in fact, TGD identity was associated with depression at least as strongly as a family history of that diagnosis. This strong association is perhaps not surprising. TGD adolescents often face stigma, social rejection, and discrimination, which can lead to depression. Autistic adolescents can face similar difficulties. Autistic youth who also have a TGD identity may therefore be at particular risk of developing depression. Our study highlights that providers who work with autistic youth in the community should be aware of this risk so they can identify and treat depression when it is present. Future studies should investigate the relationship between depression and TGD identity in autism further, to determine how providers and caregivers can support these youth. En ligne : https://dx.doi.org/10.1177/13623613251396712 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=578 [article] Transgender and gender-diverse autistic adolescents are at elevated risk of depression [texte imprimé] / Joseph PEREIRA, Auteur ; Natalia RAMOS, Auteur ; LeeAnne Green SNYDER, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Amandeep JUTLA, Auteur . - p.316-328. Langues : Anglais (eng) in Autism > 30-2 (February 2026) . - p.316-328 Mots-clés : autism  clinical  diagnoses  gender  topics Index. décimale : PER Périodiques Résumé : Autistic people are more likely to be transgender and gender diverse than the general population. Furthermore, co-occurring trait-level autism and transgender and gender-diverse identity are associated with symptoms of depression and anxiety, and autistic adolescents who identify as transgender and gender diverse have more internalizing behaviors than both non-transgender and gender-diverse autistic adolescents and non-autistic transgender and gender-diverse adolescents. However, no study has yet examined the extent to which transgender and gender-diverse identity predicts specific co-occurring mental health diagnoses in autistic adolescents. In a sample of 9027 autistic adolescents aged 13 to 17 drawn from the Simons Powering Autism Research for Knowledge cohort, 36 of whom we identified as transgender and gender diverse, we estimated univariate models of transgender and gender-diverse identity as a predictor of individual diagnoses. Depression, but no other diagnosis, remained statistically significant after adjustment for multiple comparisons. In a multiple regression model that incorporated known risk factors for adolescent depression (e.g. language impairment and disturbed sleep), transgender and gender-diverse identity remained a significant predictor (odds ratio: 4.01, 95% confidence interval: 1.87–8.67, p = 5.94 × 10−4) with an effect size at least as strong as that of a depression family history. This suggests transgender and gender-diverse autistic adolescents, who often face stigma and discrimination, are particularly vulnerable to depression.Lay abstract “Transgender and gender diverse” (TGD) people have gender identities that differ from the sex they were assigned at birth. Many autistic people have a TGD identity. Autistic adolescents who are TGD have more “internalizing symptoms,” which include symptoms of depression and anxiety, than autistic adolescents who are not TGD. In this study, we examined a group of 9027 autistic adolescents, 36 of whom had a TGD identity, to determine which, if any, mental health diagnoses would be associated with TGD identity, and whether those associations would remain even after accounting for known risk factors for a diagnosis. We found that depression, but no other diagnosis, was associated with TGD identity. This association remained even when accounting for known risk factors for depression, and in fact, TGD identity was associated with depression at least as strongly as a family history of that diagnosis. This strong association is perhaps not surprising. TGD adolescents often face stigma, social rejection, and discrimination, which can lead to depression. Autistic adolescents can face similar difficulties. Autistic youth who also have a TGD identity may therefore be at particular risk of developing depression. Our study highlights that providers who work with autistic youth in the community should be aware of this risk so they can identify and treat depression when it is present. Future studies should investigate the relationship between depression and TGD identity in autism further, to determine how providers and caregivers can support these youth. En ligne : https://dx.doi.org/10.1177/13623613251396712 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=578