Affective and psychotic reactivity to daily-life stress in adults with 22q11DS: a study using the experience sampling method / Maude SCHNEIDER in Journal of Neurodevelopmental Disorders, 12 (2020)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 12 (2020) Titre : Affective and psychotic reactivity to daily-life stress in adults with 22q11DS: a study using the experience sampling method Type de document : texte imprimé Auteurs : Maude SCHNEIDER, Auteur ; Thomas VAESSEN, Auteur ; Esther D.A. VAN DUIN, Auteur ; Zuzana KASANOVA, Auteur ; Wolfgang VIECHTBAUER, Auteur ; Ulrich REININGHAUS, Auteur ; Claudia VINGERHOETS, Auteur ; Jan BOOIJ, Auteur ; Ann SWILLEN, Auteur ; Jacob A.S. VORSTMAN, Auteur ; Thérèse VAN AMELSVOORT, Auteur ; Inez MYIN-GERMEYS, Auteur Langues : Anglais (eng) Mots-clés : Adult  DiGeorge Syndrome  Ecological Momentary Assessment  Humans  Mental Disorders  Psychotic Disorders/complications  Stress, Psychological/complications  22q11.2 deletion syndrome  Experience sampling method  Momentary psychotic experiences  Negative affect  Positive affect  Stress reactivity Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is a genetic disorder associated with an increased risk of psychiatric disorders. Vulnerability for psychopathology has been related to an increased reactivity to stress. Here, we examined affective states, perceived stress, affective and psychotic reactivity to various sources of environmental stress using the experience sampling method (ESM), a structured diary technique allowing repeated assessments in the context of daily life. METHODS: Adults with 22q11DS (n = 31; age, 34.1 years) and matched healthy controls (HCs; n = 24; age, 39.9 years) were included. ESM was used to assess affective states, perceived stress, and stress reactivity. Data were analyzed using multilevel regression models. RESULTS: Adults with 22q11DS displayed overall higher levels of negative affect but comparable levels of positive affect compared to HCs. Higher levels of perceived stress were reported by individuals with 22q11DS. Comparable affective and psychotic reactivity in relation to all types of environmental stress was observed between the two groups. CONCLUSION: The results point toward higher levels of negative affect and differences in the perception of daily hassles in 22q11DS but no difference in affective or psychotic reactivity to stress. This study contributes to the growing literature regarding the impact of stress on the development of psychopathology in the 22q11DS population. En ligne : https://dx.doi.org/10.1186/s11689-020-09333-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Affective and psychotic reactivity to daily-life stress in adults with 22q11DS: a study using the experience sampling method [texte imprimé] / Maude SCHNEIDER, Auteur ; Thomas VAESSEN, Auteur ; Esther D.A. VAN DUIN, Auteur ; Zuzana KASANOVA, Auteur ; Wolfgang VIECHTBAUER, Auteur ; Ulrich REININGHAUS, Auteur ; Claudia VINGERHOETS, Auteur ; Jan BOOIJ, Auteur ; Ann SWILLEN, Auteur ; Jacob A.S. VORSTMAN, Auteur ; Thérèse VAN AMELSVOORT, Auteur ; Inez MYIN-GERMEYS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 12 (2020) Mots-clés : Adult  DiGeorge Syndrome  Ecological Momentary Assessment  Humans  Mental Disorders  Psychotic Disorders/complications  Stress, Psychological/complications  22q11.2 deletion syndrome  Experience sampling method  Momentary psychotic experiences  Negative affect  Positive affect  Stress reactivity Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is a genetic disorder associated with an increased risk of psychiatric disorders. Vulnerability for psychopathology has been related to an increased reactivity to stress. Here, we examined affective states, perceived stress, affective and psychotic reactivity to various sources of environmental stress using the experience sampling method (ESM), a structured diary technique allowing repeated assessments in the context of daily life. METHODS: Adults with 22q11DS (n = 31; age, 34.1 years) and matched healthy controls (HCs; n = 24; age, 39.9 years) were included. ESM was used to assess affective states, perceived stress, and stress reactivity. Data were analyzed using multilevel regression models. RESULTS: Adults with 22q11DS displayed overall higher levels of negative affect but comparable levels of positive affect compared to HCs. Higher levels of perceived stress were reported by individuals with 22q11DS. Comparable affective and psychotic reactivity in relation to all types of environmental stress was observed between the two groups. CONCLUSION: The results point toward higher levels of negative affect and differences in the perception of daily hassles in 22q11DS but no difference in affective or psychotic reactivity to stress. This study contributes to the growing literature regarding the impact of stress on the development of psychopathology in the 22q11DS population. En ligne : https://dx.doi.org/10.1186/s11689-020-09333-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure / Jane SUMMERS in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure Type de document : texte imprimé Auteurs : Jane SUMMERS, Auteur ; Danielle BARIBEAU, Auteur ; Polina PERLMAN, Auteur ; Ny HOANG, Auteur ; Sunny CUI, Auteur ; Aneta KRAKOWSKI, Auteur ; Patricia AMBROZEWICZ, Auteur ; Ariel HO, Auteur ; Thanuja SELVANAYAGAM, Auteur ; Kinga A. SÁNDOR-BAJUSZ, Auteur ; Katrina PALAD, Auteur ; Nishi PATEL, Auteur ; Sarah MCGAUGHEY, Auteur ; Louise GALLAGHER, Auteur ; Stephen W. SCHERER, Auteur ; Peter SZATMARI, Auteur ; Jacob VORSTMAN, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Neurodevelopmental Disorders/genetics  Female  Male  Mental Disorders/genetics  Genetic Predisposition to Disease  Adolescent  Genetic disorder  Genetics  Interdisciplinary clinic  Mental health  Neurodevelopmental disorder  Psychiatry  Psychology  Research framework  speaker fees for Henry Stewart Talks Ltd. S.W.S. is on the Scientific Advisory  Committee of Population Bio, Deep Genomics, and serves as a Highly Cited Academic  Advisor for King Abdulaziz University. Intellectual property from aspects of his  research held at The Hospital for Sick Children are licensed to Athena  Diagnostics and Population Bio. D.B. has received research funding from MapLight  therapeutics. These relationships did not influence content of this manuscript  but are disclosed for potential future considerations. Index. décimale : PER Périodiques Résumé : BACKGROUND: A sizeable proportion of pathogenic genetic variants identified in young children tested for congenital differences are associated with neurodevelopmental psychiatric disorders (NPD). In this growing group, a genetic diagnosis often precedes the emergence of diagnosable developmental concerns. Here, we describe DAGSY (Developmental Assessment of Genetically Susceptible Youth), a novel interdisciplinary 'genetic-diagnosis-first' clinic integrating psychiatric, psychological and genetic expertise, and report our first observations and feedback from families and referring clinicians. METHODS: We retrieved data on referral sources and indications, genetic and NPD diagnoses and recommendations for children seen at DAGSY between 2018 and 2022. Through a survey, we obtained feedback from twenty families and eleven referring clinicians. RESULTS: 159 children (mean age 10.2 years, 57.2% males) completed an interdisciplinary (psychiatry, psychology, genetic counselling) DAGSY assessment during this period. Of these, 69.8% had a pathogenic microdeletion or microduplication, 21.5% a sequence-level variant, 4.4% a chromosomal disorder, and 4.4% a variant of unknown significance with emerging evidence of pathogenicity. One in four children did not have a prior NPD diagnosis, and referral to DAGSY was motivated by their genetic vulnerability alone. Following assessment, 76.7% received at least one new NPD diagnosis, most frequently intellectual disability (24.5%), anxiety (20.7%), autism spectrum (18.9%) and specific learning (16.4%) disorder. Both families and clinicians responding to our survey expressed satisfaction, but also highlighted some areas for potential improvement. CONCLUSIONS: DAGSY addresses an unmet clinical need for children identified with genetic variants that confer increased vulnerability for NPD and provides a crucial platform for research in this area. DAGSY can serve as a model for interdisciplinary clinics integrating child psychiatry, psychology and genetics, addressing both clinical and research needs for this emerging population. En ligne : https://dx.doi.org/10.1186/s11689-024-09552-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure [texte imprimé] / Jane SUMMERS, Auteur ; Danielle BARIBEAU, Auteur ; Polina PERLMAN, Auteur ; Ny HOANG, Auteur ; Sunny CUI, Auteur ; Aneta KRAKOWSKI, Auteur ; Patricia AMBROZEWICZ, Auteur ; Ariel HO, Auteur ; Thanuja SELVANAYAGAM, Auteur ; Kinga A. SÁNDOR-BAJUSZ, Auteur ; Katrina PALAD, Auteur ; Nishi PATEL, Auteur ; Sarah MCGAUGHEY, Auteur ; Louise GALLAGHER, Auteur ; Stephen W. SCHERER, Auteur ; Peter SZATMARI, Auteur ; Jacob VORSTMAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Child  Neurodevelopmental Disorders/genetics  Female  Male  Mental Disorders/genetics  Genetic Predisposition to Disease  Adolescent  Genetic disorder  Genetics  Interdisciplinary clinic  Mental health  Neurodevelopmental disorder  Psychiatry  Psychology  Research framework  speaker fees for Henry Stewart Talks Ltd. S.W.S. is on the Scientific Advisory  Committee of Population Bio, Deep Genomics, and serves as a Highly Cited Academic  Advisor for King Abdulaziz University. Intellectual property from aspects of his  research held at The Hospital for Sick Children are licensed to Athena  Diagnostics and Population Bio. D.B. has received research funding from MapLight  therapeutics. These relationships did not influence content of this manuscript  but are disclosed for potential future considerations. Index. décimale : PER Périodiques Résumé : BACKGROUND: A sizeable proportion of pathogenic genetic variants identified in young children tested for congenital differences are associated with neurodevelopmental psychiatric disorders (NPD). In this growing group, a genetic diagnosis often precedes the emergence of diagnosable developmental concerns. Here, we describe DAGSY (Developmental Assessment of Genetically Susceptible Youth), a novel interdisciplinary 'genetic-diagnosis-first' clinic integrating psychiatric, psychological and genetic expertise, and report our first observations and feedback from families and referring clinicians. METHODS: We retrieved data on referral sources and indications, genetic and NPD diagnoses and recommendations for children seen at DAGSY between 2018 and 2022. Through a survey, we obtained feedback from twenty families and eleven referring clinicians. RESULTS: 159 children (mean age 10.2 years, 57.2% males) completed an interdisciplinary (psychiatry, psychology, genetic counselling) DAGSY assessment during this period. Of these, 69.8% had a pathogenic microdeletion or microduplication, 21.5% a sequence-level variant, 4.4% a chromosomal disorder, and 4.4% a variant of unknown significance with emerging evidence of pathogenicity. One in four children did not have a prior NPD diagnosis, and referral to DAGSY was motivated by their genetic vulnerability alone. Following assessment, 76.7% received at least one new NPD diagnosis, most frequently intellectual disability (24.5%), anxiety (20.7%), autism spectrum (18.9%) and specific learning (16.4%) disorder. Both families and clinicians responding to our survey expressed satisfaction, but also highlighted some areas for potential improvement. CONCLUSIONS: DAGSY addresses an unmet clinical need for children identified with genetic variants that confer increased vulnerability for NPD and provides a crucial platform for research in this area. DAGSY can serve as a model for interdisciplinary clinics integrating child psychiatry, psychology and genetics, addressing both clinical and research needs for this emerging population. En ligne : https://dx.doi.org/10.1186/s11689-024-09552-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Behavioral signatures related to genetic disorders in autism / Hilgo BRUINING in Molecular Autism, (February 2014)  

Public ISBD [article]  inMolecular Autism > (February 2014) Titre : Behavioral signatures related to genetic disorders in autism Type de document : texte imprimé Auteurs : Hilgo BRUINING, Auteur ; Marinus EIJKEMANS, Auteur ; Martien KAS, Auteur ; Sarah CURRAN, Auteur ; Jacob VORSTMAN, Auteur ; Patrick BOLTON, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is well recognized to be genetically heterogeneous. It is assumed that the genetic risk factors give rise to a broad spectrum of indistinguishable behavioral presentations. We tested this assumption by analyzing the Autism Diagnostic Interview-Revised (ADI-R) symptom profiles in samples comprising six genetic disorders that carry an increased risk for ASD (22q11.2 deletion, Down's syndrome, Prader-Willi, supernumerary marker chromosome 15, tuberous sclerosis complex and Klinefelter syndrome; total n=322 cases, groups ranging in sample sizes from 21 to 90 cases). We mined the data to test the existence and specificity of ADI-R profiles using a multiclass extension of support vector machine (SVM) learning. We subsequently applied the SVM genetic disorder algorithm on idiopathic ASD profiles from the Autism Genetics Resource Exchange (AGRE). Genetic disorders were associated with behavioral specificity, indicated by the accuracy and certainty of SVM predictions; one-by-one genetic disorder stratifications were highly accurate leading to 63% accuracy of correct genotype prediction when all six genetic disorder groups were analyzed simultaneously. Application of the SVM algorithm to AGRE cases indicated that the algorithm could detect similarity of genetic behavioral signatures in idiopathic ASD subjects. Also, affected sib pairs in the AGRE were behaviorally more similar when they had been allocated to the same genetic disorder group. Our findings provide evidence for genotype-phenotype correlations in relation to autistic symptomatology. SVM algorithms may be used to stratify idiopathic cases of ASD according to behavioral signature patterns associated with genetic disorders. Together, the results suggest a new approach for disentangling the heterogeneity of ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-5-11 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227 [article] Behavioral signatures related to genetic disorders in autism [texte imprimé] / Hilgo BRUINING, Auteur ; Marinus EIJKEMANS, Auteur ; Martien KAS, Auteur ; Sarah CURRAN, Auteur ; Jacob VORSTMAN, Auteur ; Patrick BOLTON, Auteur. Langues : Anglais (eng) in Molecular Autism > (February 2014) Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is well recognized to be genetically heterogeneous. It is assumed that the genetic risk factors give rise to a broad spectrum of indistinguishable behavioral presentations. We tested this assumption by analyzing the Autism Diagnostic Interview-Revised (ADI-R) symptom profiles in samples comprising six genetic disorders that carry an increased risk for ASD (22q11.2 deletion, Down's syndrome, Prader-Willi, supernumerary marker chromosome 15, tuberous sclerosis complex and Klinefelter syndrome; total n=322 cases, groups ranging in sample sizes from 21 to 90 cases). We mined the data to test the existence and specificity of ADI-R profiles using a multiclass extension of support vector machine (SVM) learning. We subsequently applied the SVM genetic disorder algorithm on idiopathic ASD profiles from the Autism Genetics Resource Exchange (AGRE). Genetic disorders were associated with behavioral specificity, indicated by the accuracy and certainty of SVM predictions; one-by-one genetic disorder stratifications were highly accurate leading to 63% accuracy of correct genotype prediction when all six genetic disorder groups were analyzed simultaneously. Application of the SVM algorithm to AGRE cases indicated that the algorithm could detect similarity of genetic behavioral signatures in idiopathic ASD subjects. Also, affected sib pairs in the AGRE were behaviorally more similar when they had been allocated to the same genetic disorder group. Our findings provide evidence for genotype-phenotype correlations in relation to autistic symptomatology. SVM algorithms may be used to stratify idiopathic cases of ASD according to behavioral signature patterns associated with genetic disorders. Together, the results suggest a new approach for disentangling the heterogeneity of ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-5-11 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227

Behaviors related to autism spectrum disorder in children with developmental language disorder and children with 22q11.2 deletion syndrome / Tessel BOERMA ; Emma EVERAERT ; Ellen GERRITS ; Michiel HOUBEN ; Frank WIJNEN ; Jacob VORSTMAN in Autism & Developmental Language Impairments, 8 (January-December 2023)  

Public ISBD [article]  inAutism & Developmental Language Impairments > 8 (January-December 2023) Titre : Behaviors related to autism spectrum disorder in children with developmental language disorder and children with 22q11.2 deletion syndrome Type de document : texte imprimé Auteurs : Tessel BOERMA, Auteur ; Emma EVERAERT, Auteur ; Ellen GERRITS, Auteur ; Michiel HOUBEN, Auteur ; Frank WIJNEN, Auteur ; Jacob VORSTMAN, Auteur Langues : Anglais (eng) Mots-clés : developmental language disorder  22q11.2 deletion syndrome  autism spectrum disorder Index. décimale : PER Périodiques Résumé : Background and Aim.Children with Developmental Language Disorder (DLD) are at an increased risk to develop behaviors associated with Autism Spectrum Disorder (ASD). The relationship between early language difficulties and the occurrence of ASD-related behaviors in DLD is poorly understood. One factor that may hinder progress in understanding this relationship is the etiological heterogeneity of DLD. We therefore study this relationship in an etiologically homogeneous group of children, who share phenotypic characteristics with children with DLD: children with the 22q11.2 Deletion Syndrome (22q11DS). We compare children with 22q11DS, to children with DLD and age-matched typically developing children (TD).Method44 children with 22q11DS, 65 children with DLD and 81 TD children, between 3.0-6.5 years old, participated in a longitudinal cohort study that included a baseline measure and a follow-up measure with a 1-year interval. A parental questionnaire (SRS-2) was used to measure the incidence of behaviors in two key behavioral domains associated with ASD: Social Communication and Interaction and Restricted Repetitive Behaviors and Interests. At baseline, we assessed children's expressive and receptive language abilities as well as their intellectual functioning with standardized tests. We compared the distribution of ASD-related behaviors between the three groups. We used regression analyses to investigate whether language abilities at baseline predict ASD-related behavior at follow-up, accounting for ASD-related behavior at baseline, demographic variables and intellectual functioning.ResultsBoth the children with 22q11DS and the children with DLD displayed significantly more ASD-related behaviors than the TD children. Over 30% of children in both clinical groups had scores exceeding the subclinical threshold for ASD in both behavioral domains. Both in 22q11DS and DLD, baseline receptive language scores were negatively correlated with ASD-related behaviors 1 year later, when controlling for baseline SRS-scores. However, this association was statistically significant only in children with 22q11DS, even when controlled for IQ-scores, and it was significantly stronger as than in the TD group. The strength of the association did not differ significantly between 22q11DS and DLD.ConclusionBoth children with 22q11DS and children with DLD present with elevated rates of ASD-related behaviors at a preschool-age. Only in children with 22q11DS we observed that weaker receptive language skills were related to increased behavioral problems in the domain of social communication and interaction one year later.ImplicationsOur findings indicate that relations between early language impairment and other behavioral phenotypes may be more feasible to detect in a subgroup of children with a homogeneous etiology, than in a group of children with a heterogeneous etiology (such as children with DLD). Our results in 22q11DS reveal that receptive language is especially important in predicting the occurrence of ASD-related behaviors. Future research is needed to determine to what extent receptive language predicts the occurrence of ASD-related behaviors in children with DLD, especially among those children with DLD with the weakest receptive language. Clinically, screening for ASD-related behaviors in children with developmental language difficulties is recommended from a young age, especially among children with receptive language difficulties. En ligne : https://dx.doi.org/10.1177/23969415231179844 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=518 [article] Behaviors related to autism spectrum disorder in children with developmental language disorder and children with 22q11.2 deletion syndrome [texte imprimé] / Tessel BOERMA, Auteur ; Emma EVERAERT, Auteur ; Ellen GERRITS, Auteur ; Michiel HOUBEN, Auteur ; Frank WIJNEN, Auteur ; Jacob VORSTMAN, Auteur. Langues : Anglais (eng) in Autism & Developmental Language Impairments > 8 (January-December 2023) Mots-clés : developmental language disorder  22q11.2 deletion syndrome  autism spectrum disorder Index. décimale : PER Périodiques Résumé : Background and Aim.Children with Developmental Language Disorder (DLD) are at an increased risk to develop behaviors associated with Autism Spectrum Disorder (ASD). The relationship between early language difficulties and the occurrence of ASD-related behaviors in DLD is poorly understood. One factor that may hinder progress in understanding this relationship is the etiological heterogeneity of DLD. We therefore study this relationship in an etiologically homogeneous group of children, who share phenotypic characteristics with children with DLD: children with the 22q11.2 Deletion Syndrome (22q11DS). We compare children with 22q11DS, to children with DLD and age-matched typically developing children (TD).Method44 children with 22q11DS, 65 children with DLD and 81 TD children, between 3.0-6.5 years old, participated in a longitudinal cohort study that included a baseline measure and a follow-up measure with a 1-year interval. A parental questionnaire (SRS-2) was used to measure the incidence of behaviors in two key behavioral domains associated with ASD: Social Communication and Interaction and Restricted Repetitive Behaviors and Interests. At baseline, we assessed children's expressive and receptive language abilities as well as their intellectual functioning with standardized tests. We compared the distribution of ASD-related behaviors between the three groups. We used regression analyses to investigate whether language abilities at baseline predict ASD-related behavior at follow-up, accounting for ASD-related behavior at baseline, demographic variables and intellectual functioning.ResultsBoth the children with 22q11DS and the children with DLD displayed significantly more ASD-related behaviors than the TD children. Over 30% of children in both clinical groups had scores exceeding the subclinical threshold for ASD in both behavioral domains. Both in 22q11DS and DLD, baseline receptive language scores were negatively correlated with ASD-related behaviors 1 year later, when controlling for baseline SRS-scores. However, this association was statistically significant only in children with 22q11DS, even when controlled for IQ-scores, and it was significantly stronger as than in the TD group. The strength of the association did not differ significantly between 22q11DS and DLD.ConclusionBoth children with 22q11DS and children with DLD present with elevated rates of ASD-related behaviors at a preschool-age. Only in children with 22q11DS we observed that weaker receptive language skills were related to increased behavioral problems in the domain of social communication and interaction one year later.ImplicationsOur findings indicate that relations between early language impairment and other behavioral phenotypes may be more feasible to detect in a subgroup of children with a homogeneous etiology, than in a group of children with a heterogeneous etiology (such as children with DLD). Our results in 22q11DS reveal that receptive language is especially important in predicting the occurrence of ASD-related behaviors. Future research is needed to determine to what extent receptive language predicts the occurrence of ASD-related behaviors in children with DLD, especially among those children with DLD with the weakest receptive language. Clinically, screening for ASD-related behaviors in children with developmental language difficulties is recommended from a young age, especially among children with receptive language difficulties. En ligne : https://dx.doi.org/10.1177/23969415231179844 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=518

Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects / Emma EVERAERT in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects Type de document : texte imprimé Auteurs : Emma EVERAERT, Auteur ; Jacob A.S. VORSTMAN, Auteur ; Iris S. SELTEN, Auteur ; Martijn G. SLIEKER, Auteur ; Frank WIJNEN, Auteur ; Tessel D. BOERMA, Auteur ; Michiel L. HOUBEN, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Humans  Child, Preschool  Child  DiGeorge Syndrome/complications  Prospective Studies  Executive Function  Cognition  Attention  22q11.2 deletion syndrome  22q11DS  Congenital heart defect  DiGeorge syndrome  Executive functioning  Selective attention  Velocardiofacial syndrome  Working memory  authors declare that they have no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Executive functioning (EF) is an umbrella term for various cognitive functions that play a role in monitoring and planning to effectuate goal-directed behavior. The 22q11.2 deletion syndrome (22q11DS), the most common microdeletion syndrome, is associated with a multitude of both somatic and cognitive symptoms, including EF impairments in school-age and adolescence. However, results vary across different EF domains and studies with preschool children are scarce. As EF is critically associated with later psychopathology and adaptive functioning, our first aim was to study EF in preschool children with 22q11DS. Our second aim was to explore the effect of a congenital heart defects (CHD) on EF abilities, as CHD are common in 22q11DS and have been implicated in EF impairment in individuals with CHD without a syndromic origin. METHODS: All children with 22q11DS (n = 44) and typically developing (TD) children (n = 81) were 3.0 to 6.5 years old and participated in a larger prospective study. We administered tasks measuring visual selective attention, visual working memory, and a task gauging broad EF abilities. The presence of CHD was determined by a pediatric cardiologist based on medical records. RESULTS: Analyses showed that children with 22q11DS were outperformed by TD peers on the selective attention task and the working memory task. As many children were unable to complete the broad EF task, we did not run statistical analyses, but provide a qualitative description of the results. There were no differences in EF abilities between children with 22q11DS with and without CHDs. CONCLUSION: To our knowledge, this is the first study measuring EF in a relatively large sample of young children with 22q11DS. Our results show that EF impairments are already present in early childhood in children with 22q11DS. In line with previous studies with older children with 22q11DS, CHDs do not appear to have an effect on EF performance. These findings might have important implications for early intervention and support the improvement of prognostic accuracy. En ligne : https://dx.doi.org/10.1186/s11689-023-09484-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects [texte imprimé] / Emma EVERAERT, Auteur ; Jacob A.S. VORSTMAN, Auteur ; Iris S. SELTEN, Auteur ; Martijn G. SLIEKER, Auteur ; Frank WIJNEN, Auteur ; Tessel D. BOERMA, Auteur ; Michiel L. HOUBEN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Adolescent  Humans  Child, Preschool  Child  DiGeorge Syndrome/complications  Prospective Studies  Executive Function  Cognition  Attention  22q11.2 deletion syndrome  22q11DS  Congenital heart defect  DiGeorge syndrome  Executive functioning  Selective attention  Velocardiofacial syndrome  Working memory  authors declare that they have no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Executive functioning (EF) is an umbrella term for various cognitive functions that play a role in monitoring and planning to effectuate goal-directed behavior. The 22q11.2 deletion syndrome (22q11DS), the most common microdeletion syndrome, is associated with a multitude of both somatic and cognitive symptoms, including EF impairments in school-age and adolescence. However, results vary across different EF domains and studies with preschool children are scarce. As EF is critically associated with later psychopathology and adaptive functioning, our first aim was to study EF in preschool children with 22q11DS. Our second aim was to explore the effect of a congenital heart defects (CHD) on EF abilities, as CHD are common in 22q11DS and have been implicated in EF impairment in individuals with CHD without a syndromic origin. METHODS: All children with 22q11DS (n = 44) and typically developing (TD) children (n = 81) were 3.0 to 6.5 years old and participated in a larger prospective study. We administered tasks measuring visual selective attention, visual working memory, and a task gauging broad EF abilities. The presence of CHD was determined by a pediatric cardiologist based on medical records. RESULTS: Analyses showed that children with 22q11DS were outperformed by TD peers on the selective attention task and the working memory task. As many children were unable to complete the broad EF task, we did not run statistical analyses, but provide a qualitative description of the results. There were no differences in EF abilities between children with 22q11DS with and without CHDs. CONCLUSION: To our knowledge, this is the first study measuring EF in a relatively large sample of young children with 22q11DS. Our results show that EF impairments are already present in early childhood in children with 22q11DS. In line with previous studies with older children with 22q11DS, CHDs do not appear to have an effect on EF performance. These findings might have important implications for early intervention and support the improvement of prognostic accuracy. En ligne : https://dx.doi.org/10.1186/s11689-023-09484-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders / Gregory COSTAIN in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

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The Genetics of Autism Spectrum Disorders / Ryan K.C. YUEN

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Variations génétiques dans l'étiologie de l'autisme / Jacob VORSTMAN in Bulletin Scientifique de l'arapi (Le), 36 (Hiver 2015)

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