Aging in fragile X syndrome / Agustini UTARI in Journal of Neurodevelopmental Disorders, 2-2 (June 2010)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 2-2 (June 2010) . - p.70-76 Titre : Aging in fragile X syndrome Type de document : texte imprimé Auteurs : Agustini UTARI, Auteur ; Evan ADAMS, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Alyssa D. CHAVEZ, Auteur ; Felicia SCAGGS, Auteur ; Lily NGOTRAN, Auteur ; Antoniya BOYD, Auteur ; David HESSL, Auteur ; Louise W. GANE, Auteur ; Flora TASSONE, Auteur ; Nicole TARTAGLIA, Auteur ; Maureen A. LEEHEY, Auteur ; Randi J. HAGERMAN, Auteur Article en page(s) : p.70-76 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Many studies have focused on the behavior and cognitive problems in young patients with fragile X syndrome (FXS), but there are no studies about the problems in aging for those with FXS. The discovery of the fragile X-associated tremor ataxia syndrome (FXTAS), a neurodegenerative disorder related to elevated FMR1-mRNA, in elderly men and some women with the premutation, intensified the need for aging studies in FXS. Approximately 40% of males with FXS have repeat size mosaicism and as a result, some of these individuals also have elevated levels of FMR1-mRNA which theoretically puts them at risk for FXTAS. Here, we have surveyed all of the aging patients with FXS that we have followed over the years to clarify the medical complications of aging seen in those with FXS. Data was collected from 62 individuals with the FXS full mutation (44 males; 18 females) who were at least 40 years old at their most recent clinical examination. We found that the five most frequent medical problems in these patients were neurological problems (38.7%), gastrointestinal problems (30.6%), obesity (28.8%), hypertension (24.2%) and heart problems (24.2%). Movement disorders were significantly different between males and females (38.6% vs.10.2%, p = 0.029). We did not find any differences in medical problems between those with a full mutation and those with mosaicism. Identification of medical problems associated with aging in FXS is important to establish appropriate recommendations for medical screening and treatment considerations. En ligne : http://dx.doi.org/10.1007/s11689-010-9047-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] Aging in fragile X syndrome [texte imprimé] / Agustini UTARI, Auteur ; Evan ADAMS, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Alyssa D. CHAVEZ, Auteur ; Felicia SCAGGS, Auteur ; Lily NGOTRAN, Auteur ; Antoniya BOYD, Auteur ; David HESSL, Auteur ; Louise W. GANE, Auteur ; Flora TASSONE, Auteur ; Nicole TARTAGLIA, Auteur ; Maureen A. LEEHEY, Auteur ; Randi J. HAGERMAN, Auteur . - p.70-76. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 2-2 (June 2010) . - p.70-76 Index. décimale : PER Périodiques Résumé : Many studies have focused on the behavior and cognitive problems in young patients with fragile X syndrome (FXS), but there are no studies about the problems in aging for those with FXS. The discovery of the fragile X-associated tremor ataxia syndrome (FXTAS), a neurodegenerative disorder related to elevated FMR1-mRNA, in elderly men and some women with the premutation, intensified the need for aging studies in FXS. Approximately 40% of males with FXS have repeat size mosaicism and as a result, some of these individuals also have elevated levels of FMR1-mRNA which theoretically puts them at risk for FXTAS. Here, we have surveyed all of the aging patients with FXS that we have followed over the years to clarify the medical complications of aging seen in those with FXS. Data was collected from 62 individuals with the FXS full mutation (44 males; 18 females) who were at least 40 years old at their most recent clinical examination. We found that the five most frequent medical problems in these patients were neurological problems (38.7%), gastrointestinal problems (30.6%), obesity (28.8%), hypertension (24.2%) and heart problems (24.2%). Movement disorders were significantly different between males and females (38.6% vs.10.2%, p = 0.029). We did not find any differences in medical problems between those with a full mutation and those with mosaicism. Identification of medical problems associated with aging in FXS is important to establish appropriate recommendations for medical screening and treatment considerations. En ligne : http://dx.doi.org/10.1007/s11689-010-9047-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342

Early Social Behavior in Young Children with Sex Chromosome Trisomies (XXX, XXY, XYY): Profiles of Observed Social Interactions and Social Impairments Associated with Autism Spectrum Disorder (ASD) / Nienke BOUW in Journal of Autism and Developmental Disorders, 53-8 (August 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-8 (August 2023) . - p.3194-3207 Titre : Early Social Behavior in Young Children with Sex Chromosome Trisomies (XXX, XXY, XYY): Profiles of Observed Social Interactions and Social Impairments Associated with Autism Spectrum Disorder (ASD) Type de document : texte imprimé Auteurs : Nienke BOUW, Auteur ; Hanna SWAAB, Auteur ; Nicole TARTAGLIA, Auteur ; Lisa CORDEIRO, Auteur ; Sophie VAN RIJN, Auteur Article en page(s) : p.3194-3207 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Individuals with Sex Chromosome Trisomies (SCT; XXX, XXY, XYY) have an increased vulnerability for developing challenges in social adaptive functioning. The present study investigates social interaction behavior in the context of varying social load, and Autism Spectrum Disorder (ASD) symptomatology in young children aged 1-7.5 years old, with SCT (N 105) and control children (N 101). Children with SCT show less interaction behaviors and more social withdrawal, as compared to their control peers, which were most evident in the high social load condition. Second, social impairments related to ASD are more prevalent, as compared to controls (27.1% at clinical level). These findings stress the importance of early monitoring and (preventive) support of early social development in young children with SCT. En ligne : https://doi.org/10.1007/s10803-022-05553-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=508 [article] Early Social Behavior in Young Children with Sex Chromosome Trisomies (XXX, XXY, XYY): Profiles of Observed Social Interactions and Social Impairments Associated with Autism Spectrum Disorder (ASD) [texte imprimé] / Nienke BOUW, Auteur ; Hanna SWAAB, Auteur ; Nicole TARTAGLIA, Auteur ; Lisa CORDEIRO, Auteur ; Sophie VAN RIJN, Auteur . - p.3194-3207. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-8 (August 2023) . - p.3194-3207 Index. décimale : PER Périodiques Résumé : Individuals with Sex Chromosome Trisomies (SCT; XXX, XXY, XYY) have an increased vulnerability for developing challenges in social adaptive functioning. The present study investigates social interaction behavior in the context of varying social load, and Autism Spectrum Disorder (ASD) symptomatology in young children aged 1-7.5 years old, with SCT (N 105) and control children (N 101). Children with SCT show less interaction behaviors and more social withdrawal, as compared to their control peers, which were most evident in the high social load condition. Second, social impairments related to ASD are more prevalent, as compared to controls (27.1% at clinical level). These findings stress the importance of early monitoring and (preventive) support of early social development in young children with SCT. En ligne : https://doi.org/10.1007/s10803-022-05553-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=508

Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome / Melissa RASPA ; Carla M. BANN ; Julia M. GABLE ; Holly K. HARRIS ; Dejan B. BUDIMIROVIC ; Reymundo LOZANO ; Elizabeth BERRY-KRAVIS ; Milen VELINOV ; Amy L. TALBOY ; Stephanie L. SHERMAN ; Walter E. KAUFMANN ; Marcy SCHUSTER ; Nicole TARTAGLIA ; Robyn A. FILIPINK ; Dejan B. BUDIMIROVIC ; Deborah BARBOUTH ; Amy A. LIGHTBODY ; Allan L. REISS ; Carol M. DELAHUNTY ; Randi J. HAGERMAN ; David HESSL ; Craig ERICKSON ; Gary FELDMAN ; Jonathan D. PICKER ; Ave M. LACHIEWICZ ; Holly K. HARRIS ; Amy N. ESLER ; Richard E. FRYE ; Patricia A. EVANS ; Mary Ann MORRIS ; Barbara HAAS-GIVLER ; Andrea L. GROPMAN ; Ryan S. UY ; Carie M. BUCHANAN ; Jean A. FRAZIER ; Stephanie M. MORRIS ; FORWARD CONSORTIUM in Journal of Autism and Developmental Disorders, 54-2 (February 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-2 (February 2024) . - p.725-737 Titre : Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome Type de document : texte imprimé Auteurs : Melissa RASPA, Auteur ; Carla M. BANN, Auteur ; Julia M. GABLE, Auteur ; Holly K. HARRIS, Auteur ; Dejan B. BUDIMIROVIC, Auteur ; Reymundo LOZANO, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Milen VELINOV, Auteur ; Amy L. TALBOY, Auteur ; Stephanie L. SHERMAN, Auteur ; Walter E. KAUFMANN, Auteur ; Marcy SCHUSTER, Auteur ; Nicole TARTAGLIA, Auteur ; Robyn A. FILIPINK, Auteur ; Dejan B. BUDIMIROVIC, Auteur ; Deborah BARBOUTH, Auteur ; Amy A. LIGHTBODY, Auteur ; Allan L. REISS, Auteur ; Carol M. DELAHUNTY, Auteur ; Randi J. HAGERMAN, Auteur ; David HESSL, Auteur ; Craig ERICKSON, Auteur ; Gary FELDMAN, Auteur ; Jonathan D. PICKER, Auteur ; Ave M. LACHIEWICZ, Auteur ; Holly K. HARRIS, Auteur ; Amy N. ESLER, Auteur ; Richard E. FRYE, Auteur ; Patricia A. EVANS, Auteur ; Mary Ann MORRIS, Auteur ; Barbara HAAS-GIVLER, Auteur ; Andrea L. GROPMAN, Auteur ; Ryan S. UY, Auteur ; Carie M. BUCHANAN, Auteur ; Jean A. FRAZIER, Auteur ; Stephanie M. MORRIS, Auteur ; FORWARD CONSORTIUM, Auteur Article en page(s) : p.725-737 Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is characterized by variable neurobehavioral abnormalities, which leads to difficulties in developing and evaluating treatments and in determining accurate prognosis. We employed a pediatric cross-sectional sample (1,072 males, 338 females) from FORWARD, a clinic-based natural history study, to identify behavioral subtypes by latent class analysis. Input included co-occurring behavioral conditions, sleep and sensory problems, autistic behavior scales (SCQ, SRS-2), and the Aberrant Behavior Checklist revised for FXS (ABCFX). A 5-class solution yielded the most clinically meaningful, pharmacotherapy independent behavioral groups with distinctive SCQ, SRS-2, and ABCFX profiles, and adequate non-overlap (? 71%): ?Mild? (31%), ?Moderate without Social Impairment? (32%), ?Moderate with Social Impairment? (7%), ?Moderate with Disruptive Behavior? (20%), and ?Severe? (9%). Our findings support FXS subtyping, for improving clinical management and therapeutic development. En ligne : https://doi.org/10.1007/s10803-022-05821-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520 [article] Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome [texte imprimé] / Melissa RASPA, Auteur ; Carla M. BANN, Auteur ; Julia M. GABLE, Auteur ; Holly K. HARRIS, Auteur ; Dejan B. BUDIMIROVIC, Auteur ; Reymundo LOZANO, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Milen VELINOV, Auteur ; Amy L. TALBOY, Auteur ; Stephanie L. SHERMAN, Auteur ; Walter E. KAUFMANN, Auteur ; Marcy SCHUSTER, Auteur ; Nicole TARTAGLIA, Auteur ; Robyn A. FILIPINK, Auteur ; Dejan B. BUDIMIROVIC, Auteur ; Deborah BARBOUTH, Auteur ; Amy A. LIGHTBODY, Auteur ; Allan L. REISS, Auteur ; Carol M. DELAHUNTY, Auteur ; Randi J. HAGERMAN, Auteur ; David HESSL, Auteur ; Craig ERICKSON, Auteur ; Gary FELDMAN, Auteur ; Jonathan D. PICKER, Auteur ; Ave M. LACHIEWICZ, Auteur ; Holly K. HARRIS, Auteur ; Amy N. ESLER, Auteur ; Richard E. FRYE, Auteur ; Patricia A. EVANS, Auteur ; Mary Ann MORRIS, Auteur ; Barbara HAAS-GIVLER, Auteur ; Andrea L. GROPMAN, Auteur ; Ryan S. UY, Auteur ; Carie M. BUCHANAN, Auteur ; Jean A. FRAZIER, Auteur ; Stephanie M. MORRIS, Auteur ; FORWARD CONSORTIUM, Auteur . - p.725-737. in Journal of Autism and Developmental Disorders > 54-2 (February 2024) . - p.725-737 Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is characterized by variable neurobehavioral abnormalities, which leads to difficulties in developing and evaluating treatments and in determining accurate prognosis. We employed a pediatric cross-sectional sample (1,072 males, 338 females) from FORWARD, a clinic-based natural history study, to identify behavioral subtypes by latent class analysis. Input included co-occurring behavioral conditions, sleep and sensory problems, autistic behavior scales (SCQ, SRS-2), and the Aberrant Behavior Checklist revised for FXS (ABCFX). A 5-class solution yielded the most clinically meaningful, pharmacotherapy independent behavioral groups with distinctive SCQ, SRS-2, and ABCFX profiles, and adequate non-overlap (? 71%): ?Mild? (31%), ?Moderate without Social Impairment? (32%), ?Moderate with Social Impairment? (7%), ?Moderate with Disruptive Behavior? (20%), and ?Severe? (9%). Our findings support FXS subtyping, for improving clinical management and therapeutic development. En ligne : https://doi.org/10.1007/s10803-022-05821-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520

Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis / Eleanor M. ECKERT in Journal of Autism and Developmental Disorders, 49-11 (November 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-11 (November 2019) . - p.4595-4602 Titre : Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis Type de document : texte imprimé Auteurs : Eleanor M. ECKERT, Auteur ; Kelli C. DOMINICK, Auteur ; Ernest V. PEDAPATI, Auteur ; Logan K. WINK, Auteur ; Rebecca C. SHAFFER, Auteur ; Howard ANDREWS, Auteur ; Tse-Hwei CHOO, Auteur ; Chen CHEN, Auteur ; Walter E. KAUFMANN, Auteur ; Nicole TARTAGLIA, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Craig ERICKSON, Auteur Année de publication : 2019 Article en page(s) : p.4595-4602 Langues : Anglais (eng) Mots-clés : Fragile X syndrome  Irritability  Pharmacotherapy Index. décimale : PER Périodiques Résumé : Using a dataset involving 415 individuals with irritability, aggression, agitation and self-injury (IAAS) behaviors from the fragile X syndrome (FXS) FORWARD database, we describe the psychopharmacologic management of IAAS and features of the population of persons with FXS treated with drug therapy for IAAS. Among those with FXS exhibiting IAAS, individuals with FXS receiving drug treatment of IAAS were older, more predominantly male, have more significant intellectual disability, more like to have comorbid autism, hyperarousal, and social impairments. The most commonly utilized medications for IAAS in FXS are antipsychotic medications, specifically aripiprazole and risperidone (37% and 27%, respectively). The majority of subjects (63%) experienced no side effects noted from the use of their psychopharmacologic medications. En ligne : http://dx.doi.org/10.1007/s10803-019-04173-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408 [article] Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis [texte imprimé] / Eleanor M. ECKERT, Auteur ; Kelli C. DOMINICK, Auteur ; Ernest V. PEDAPATI, Auteur ; Logan K. WINK, Auteur ; Rebecca C. SHAFFER, Auteur ; Howard ANDREWS, Auteur ; Tse-Hwei CHOO, Auteur ; Chen CHEN, Auteur ; Walter E. KAUFMANN, Auteur ; Nicole TARTAGLIA, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Craig ERICKSON, Auteur . - 2019 . - p.4595-4602. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-11 (November 2019) . - p.4595-4602 Mots-clés : Fragile X syndrome  Irritability  Pharmacotherapy Index. décimale : PER Périodiques Résumé : Using a dataset involving 415 individuals with irritability, aggression, agitation and self-injury (IAAS) behaviors from the fragile X syndrome (FXS) FORWARD database, we describe the psychopharmacologic management of IAAS and features of the population of persons with FXS treated with drug therapy for IAAS. Among those with FXS exhibiting IAAS, individuals with FXS receiving drug treatment of IAAS were older, more predominantly male, have more significant intellectual disability, more like to have comorbid autism, hyperarousal, and social impairments. The most commonly utilized medications for IAAS in FXS are antipsychotic medications, specifically aripiprazole and risperidone (37% and 27%, respectively). The majority of subjects (63%) experienced no side effects noted from the use of their psychopharmacologic medications. En ligne : http://dx.doi.org/10.1007/s10803-019-04173-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408

Quantifying the resolution of spatial and temporal representation in children with 22q11.2 deletion syndrome / Kathryn L. MCCABE in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 40 Titre : Quantifying the resolution of spatial and temporal representation in children with 22q11.2 deletion syndrome Type de document : texte imprimé Auteurs : Kathryn L. MCCABE, Auteur ; Abbie M. POPA, Auteur ; Courtney DURDLE, Auteur ; Michele AMATO, Auteur ; Margarita H. CABARAL, Auteur ; Joshua CRUZ, Auteur ; Ling M. WONG, Auteur ; Danielle HARVEY, Auteur ; Nicole TARTAGLIA, Auteur ; Tony J. SIMON, Auteur Article en page(s) : 40 Langues : Anglais (eng) Mots-clés : Adolescent  Attention/physiology  Auditory Perception/physiology  Child  DiGeorge Syndrome/complications/physiopathology  Female  Humans  Male  Mathematical Concepts  Perceptual Disorders/etiology/physiopathology  Sex Chromosome Aberrations  Space Perception/physiology  Time Perception/physiology  Visual Perception/physiology  22q11.2 deletion syndrome (22q11DS)  Attention  Children  Magnitude processing  Spatiotemporal attention Index. décimale : PER Périodiques Résumé : OBJECTIVES: Our ability to generate mental representation of magnitude from sensory information affects how we perceive and experience the world. Reduced resolution of the mental representations formed from sensory inputs may generate impairment in the proximal and distal information processes that utilize these representations. Impairment of spatial and temporal information processing likely underpins the non-verbal cognitive impairments observed in 22q11.2 deletion syndrome (22q11DS). The present study builds on prior research by seeking to quantify the resolution of spatial and temporal representation in children with 22q11DS, sex chromosome aneuploidy (SCA), and a typically developing (TD) control group. PARTICIPANTS AND METHODS: Children (22q11DS = 70, SCA = 49, TD = 46) responded to visual or auditory stimuli with varying difference ratios. The participant's task was to identify which of two sequentially presented stimuli was of larger magnitude in terms of, size, duration, or auditory frequency. Detection threshold was calculated as the minimum difference ratio between the "standard" and the "target" stimuli required to achieve 75% accuracy in detecting that the two stimuli were different. RESULTS: Children with 22q11DS required larger magnitude difference between spatial stimuli for accurate identification compared with both the SCA and TD groups (% difference from standard: 22q11DS = 14; SCA = 8; TD: 7; F = 8.42, p < 0.001). Temporal detection threshold was also higher for the 22q11DS group to both visual (% difference from standard: 22q11DS = 14; SCA = 8; TD = 7; F = 8.33, p < 0.001) and auditory (% difference from standard: 22q11DS = 23; SCA = 12; TD: 8; F = 8.99, p < 0.001) stimuli compared with both the SCA and TD groups, while the SCA and TD groups displayed equivalent performance on these measures (p's > 0.05). Pitch detection threshold did not differ among the groups (p's > 0.05). CONCLUSIONS: The observation of higher detection thresholds to spatial and temporal stimuli indicates further evidence for reduced resolution in both spatial and temporal magnitude representation in 22q11DS, that does not extend to frequency magnitude representation (pitch detection), and which is not explained by generalized cognitive impairment alone. These findings generate further support for the hypothesis that spatiotemporal hypergranularity of mental representations contributes to the non-verbal cognitive impairment seen in 22q11DS. En ligne : https://dx.doi.org/10.1186/s11689-019-9301-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Quantifying the resolution of spatial and temporal representation in children with 22q11.2 deletion syndrome [texte imprimé] / Kathryn L. MCCABE, Auteur ; Abbie M. POPA, Auteur ; Courtney DURDLE, Auteur ; Michele AMATO, Auteur ; Margarita H. CABARAL, Auteur ; Joshua CRUZ, Auteur ; Ling M. WONG, Auteur ; Danielle HARVEY, Auteur ; Nicole TARTAGLIA, Auteur ; Tony J. SIMON, Auteur . - 40. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 40 Mots-clés : Adolescent  Attention/physiology  Auditory Perception/physiology  Child  DiGeorge Syndrome/complications/physiopathology  Female  Humans  Male  Mathematical Concepts  Perceptual Disorders/etiology/physiopathology  Sex Chromosome Aberrations  Space Perception/physiology  Time Perception/physiology  Visual Perception/physiology  22q11.2 deletion syndrome (22q11DS)  Attention  Children  Magnitude processing  Spatiotemporal attention Index. décimale : PER Périodiques Résumé : OBJECTIVES: Our ability to generate mental representation of magnitude from sensory information affects how we perceive and experience the world. Reduced resolution of the mental representations formed from sensory inputs may generate impairment in the proximal and distal information processes that utilize these representations. Impairment of spatial and temporal information processing likely underpins the non-verbal cognitive impairments observed in 22q11.2 deletion syndrome (22q11DS). The present study builds on prior research by seeking to quantify the resolution of spatial and temporal representation in children with 22q11DS, sex chromosome aneuploidy (SCA), and a typically developing (TD) control group. PARTICIPANTS AND METHODS: Children (22q11DS = 70, SCA = 49, TD = 46) responded to visual or auditory stimuli with varying difference ratios. The participant's task was to identify which of two sequentially presented stimuli was of larger magnitude in terms of, size, duration, or auditory frequency. Detection threshold was calculated as the minimum difference ratio between the "standard" and the "target" stimuli required to achieve 75% accuracy in detecting that the two stimuli were different. RESULTS: Children with 22q11DS required larger magnitude difference between spatial stimuli for accurate identification compared with both the SCA and TD groups (% difference from standard: 22q11DS = 14; SCA = 8; TD: 7; F = 8.42, p < 0.001). Temporal detection threshold was also higher for the 22q11DS group to both visual (% difference from standard: 22q11DS = 14; SCA = 8; TD = 7; F = 8.33, p < 0.001) and auditory (% difference from standard: 22q11DS = 23; SCA = 12; TD: 8; F = 8.99, p < 0.001) stimuli compared with both the SCA and TD groups, while the SCA and TD groups displayed equivalent performance on these measures (p's > 0.05). Pitch detection threshold did not differ among the groups (p's > 0.05). CONCLUSIONS: The observation of higher detection thresholds to spatial and temporal stimuli indicates further evidence for reduced resolution in both spatial and temporal magnitude representation in 22q11DS, that does not extend to frequency magnitude representation (pitch detection), and which is not explained by generalized cognitive impairment alone. These findings generate further support for the hypothesis that spatiotemporal hypergranularity of mental representations contributes to the non-verbal cognitive impairment seen in 22q11DS. En ligne : https://dx.doi.org/10.1186/s11689-019-9301-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX) / Elizabeth BERRY-KRAVIS in Journal of Neurodevelopmental Disorders, 14 (2022)  

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Sex chromosome aneuploidy / Jeannie VISOOTSAK

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The impact of sex chromosome trisomies (XXX, XXY, XYY) on gaze towards faces and affect recognition: a cross-sectional eye tracking study / Nienke BOUW in Journal of Neurodevelopmental Disorders, 14 (2022)  

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