Caregiver perspectives, experiences and service satisfaction, and health service utilization among families of children with developmental disorders at a tertiary center in a low-resource setting / Kirsten A. DONALD in Research in Autism Spectrum Disorders, 110 (February 2024)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 110 (February 2024) . - p.102285 Titre : Caregiver perspectives, experiences and service satisfaction, and health service utilization among families of children with developmental disorders at a tertiary center in a low-resource setting Type de document : texte imprimé Auteurs : Kirsten A. DONALD, Auteur Article en page(s) : p.102285 Mots-clés : Neurodevelopmental disorders  Perspectives  Experiences  Satisfaction  Health  Service utilization  Low-resource setting Index. décimale : PER Périodiques Résumé : Background We describe the health perspectives, experiences, and level of service satisfaction among caregivers of children with autism spectrum disorder (ASD) and those with global developmental delays (GDD) attending services at a tertiary paediatric center, and how these influence health services utilization (HSU). Methods In this cross-sectional study, we interviewed caregivers using pre-validated questionnaires to establish their health perspectives, family distress level, healthcare experiences and service satisfaction level. HSU was determined by a review of their medical records in the preceding year. We used descriptive statistics and logistic regression analysis to correlate these variables comparing households with children with ASD versus GDD. Results We enrolled 240 children, 116 had ASD and 124 with GDD, within the age range of 3 8 years, and more males (2:1). Overall, most caregivers believed they had a low understanding of these conditions and that existing treatments were not effective. Both groups reported moderate family distress, mean of 3.3 /10 (SD 1.2), and moderate satisfaction level (68.3%). The mean annual frequency of visits was 12.5, but higher in GDD (13.3 vs 11.5). Overall, households that believed that therapy was able to control the illness recorded higher HSU (p = 0.003). Among families with children with ASD, lower family distress (p = 0.003), and higher general satisfaction (p = 0.06) predicted higher HSU. Conclusion Caregivers hold complex perceptions around these conditions that influence their service usage. There is a need to empower the caregivers, decentralize early intervention services, and adopt family-centered approaches in supporting families, to improve service compliance. En ligne : https://doi.org/10.1016/j.rasd.2023.102285 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520 [article] Caregiver perspectives, experiences and service satisfaction, and health service utilization among families of children with developmental disorders at a tertiary center in a low-resource setting [texte imprimé] / Kirsten A. DONALD, Auteur . - p.102285. in Research in Autism Spectrum Disorders > 110 (February 2024) . - p.102285 Mots-clés : Neurodevelopmental disorders  Perspectives  Experiences  Satisfaction  Health  Service utilization  Low-resource setting Index. décimale : PER Périodiques Résumé : Background We describe the health perspectives, experiences, and level of service satisfaction among caregivers of children with autism spectrum disorder (ASD) and those with global developmental delays (GDD) attending services at a tertiary paediatric center, and how these influence health services utilization (HSU). Methods In this cross-sectional study, we interviewed caregivers using pre-validated questionnaires to establish their health perspectives, family distress level, healthcare experiences and service satisfaction level. HSU was determined by a review of their medical records in the preceding year. We used descriptive statistics and logistic regression analysis to correlate these variables comparing households with children with ASD versus GDD. Results We enrolled 240 children, 116 had ASD and 124 with GDD, within the age range of 3 8 years, and more males (2:1). Overall, most caregivers believed they had a low understanding of these conditions and that existing treatments were not effective. Both groups reported moderate family distress, mean of 3.3 /10 (SD 1.2), and moderate satisfaction level (68.3%). The mean annual frequency of visits was 12.5, but higher in GDD (13.3 vs 11.5). Overall, households that believed that therapy was able to control the illness recorded higher HSU (p = 0.003). Among families with children with ASD, lower family distress (p = 0.003), and higher general satisfaction (p = 0.06) predicted higher HSU. Conclusion Caregivers hold complex perceptions around these conditions that influence their service usage. There is a need to empower the caregivers, decentralize early intervention services, and adopt family-centered approaches in supporting families, to improve service compliance. En ligne : https://doi.org/10.1016/j.rasd.2023.102285 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520

Externalizing behavior in preschool children in a South African birth cohort: Predictive pathways in a high-risk context / Susan MALCOLM-SMITH in Development and Psychopathology, 35-2 (May 2023)  

Public ISBD [article]  inDevelopment and Psychopathology > 35-2 (May 2023) . - p.982-999 Titre : Externalizing behavior in preschool children in a South African birth cohort: Predictive pathways in a high-risk context Type de document : texte imprimé Auteurs : Susan MALCOLM-SMITH, Auteur ; Marilyn T. LAKE, Auteur ; Akhona KRWECE, Auteur ; Christopher P. DU PLOOY, Auteur ; Nadia HOFFMAN, Auteur ; Kirsten A. DONALD, Auteur ; Heather J. ZAR, Auteur ; Dan J. STEIN, Auteur Article en page(s) : p.982-999 Langues : Anglais (eng) Mots-clés : preschool mental health  externalizing behavior  LMIC  South Africa  birth cohort Index. décimale : PER Périodiques Résumé : Mental health problems often begin in early childhood. However, the associations of various individual and contextual risk factors with mental health in the preschool period are incompletely understood, particularly in low- to middle-income countries (LMICs) where multiple risk factors co-exist. To address this gap, we prospectively followed 981 children in a South African birth cohort, the Drakenstein Child Health Study, assessing pre-and postnatal exposures and risk factors. The predictive value of these factors for child mental health (assessed by the Child Behavior Checklist) was modeled using structural equation modeling. We identified two key pathways to greater externalizing behavior: (1) prenatal exposure to substances (alcohol and smoking) directly predicted increased externalizing behavior (? = 0.24, p < 0.001); this relationship was partially mediated by an aspect of infant temperament (negative emotionality; ? = 0.05, p = 0.016); (2) lower socioeconomic status and associated maternal prenatal depression predicted more coercive parenting, which in turn predicted increased externalizing behavior (? = 0.18, p = 0.001). Findings in this high-risk LMIC cohort cohere with research from higher income contexts, and indicate the need to introduce integrated screening and intervention strategies for maternal prenatal substance use and depression, and promoting positive parenting across the preschool period. En ligne : http://dx.doi.org/10.1017/S095457942200027X Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=504 [article] Externalizing behavior in preschool children in a South African birth cohort: Predictive pathways in a high-risk context [texte imprimé] / Susan MALCOLM-SMITH, Auteur ; Marilyn T. LAKE, Auteur ; Akhona KRWECE, Auteur ; Christopher P. DU PLOOY, Auteur ; Nadia HOFFMAN, Auteur ; Kirsten A. DONALD, Auteur ; Heather J. ZAR, Auteur ; Dan J. STEIN, Auteur . - p.982-999. Langues : Anglais (eng) in Development and Psychopathology > 35-2 (May 2023) . - p.982-999 Mots-clés : preschool mental health  externalizing behavior  LMIC  South Africa  birth cohort Index. décimale : PER Périodiques Résumé : Mental health problems often begin in early childhood. However, the associations of various individual and contextual risk factors with mental health in the preschool period are incompletely understood, particularly in low- to middle-income countries (LMICs) where multiple risk factors co-exist. To address this gap, we prospectively followed 981 children in a South African birth cohort, the Drakenstein Child Health Study, assessing pre-and postnatal exposures and risk factors. The predictive value of these factors for child mental health (assessed by the Child Behavior Checklist) was modeled using structural equation modeling. We identified two key pathways to greater externalizing behavior: (1) prenatal exposure to substances (alcohol and smoking) directly predicted increased externalizing behavior (? = 0.24, p < 0.001); this relationship was partially mediated by an aspect of infant temperament (negative emotionality; ? = 0.05, p = 0.016); (2) lower socioeconomic status and associated maternal prenatal depression predicted more coercive parenting, which in turn predicted increased externalizing behavior (? = 0.18, p = 0.001). Findings in this high-risk LMIC cohort cohere with research from higher income contexts, and indicate the need to introduce integrated screening and intervention strategies for maternal prenatal substance use and depression, and promoting positive parenting across the preschool period. En ligne : http://dx.doi.org/10.1017/S095457942200027X Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=504

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures / Beryl ROYER-BERTRAND in Molecular Autism, 12 (2021)  

Public ISBD [article]  inMolecular Autism > 12 (2021) . - 69 p. Titre : De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures Type de document : texte imprimé Auteurs : Beryl ROYER-BERTRAND, Auteur ; Marine JEQUIER GYGAX, Auteur ; Katarina CISAROVA, Auteur ; Jill A. ROSENFELD, Auteur ; Jennifer A. BASSETTI, Auteur ; Oana MOLDOVAN, Auteur ; Emily O'HEIR, Auteur ; Lindsay C. BURRAGE, Auteur ; Jake ALLEN, Auteur ; Lisa T. EMRICK, Auteur ; Emma EASTMAN, Auteur ; Camille KUMPS, Auteur ; Safdar ABBAS, Auteur ; Geraldine VAN WINCKEL, Auteur ; Nadia CHABANE, Auteur ; Elaine H. ZACKAI, Auteur ; Sebastien LEBON, Auteur ; Beth KEENA, Auteur ; Elizabeth J. BHOJ, Auteur ; Muhammad UMAIR, Auteur ; Dong LI, Auteur ; Kirsten A. DONALD, Auteur ; Andrea SUPERTI-FURGA, Auteur Article en page(s) : 69 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Cacna1e  Developmental regression  Epilepsy  Exome sequencing  Global developmental delay  Intellectual disability  Neurodevelopmental disorders  Seizures  Topiramate  receives revenue from clinical genetic testing completed at Baylor Genetics  Laboratories. Index. décimale : PER Périodiques Résumé : BACKGROUND: De novo variants in the voltage-gated calcium channel subunit α1 E gene (CACNA1E) have been described as causative of epileptic encephalopathy with contractures, macrocephaly and dyskinesias. METHODS: Following the observation of an index patient with developmental delay and autism spectrum disorder (ASD) without seizures who had a de novo deleterious CACNA1E variant, we screened GeneMatcher for other individuals with CACNA1E variants and neurodevelopmental phenotypes without epilepsy. The spectrum of pathogenic CACNA1E variants was compared to the mutational landscape of variants in the gnomAD control population database. RESULTS: We identified seven unrelated individuals with intellectual disability, developmental regression and ASD-like behavioral profile, and notably without epilepsy, who had de novo heterozygous putatively pathogenic variants in CACNA1E. Age of onset of clinical manifestation, presence or absence of regression and degree of severity were variable, and no clear-cut genotype-phenotype association could be recognized. The analysis of disease-associated variants and their comparison to benign variants from the control population allowed for the identification of regions in the CACNA1E protein that seem to be intolerant to substitutions and thus more likely to harbor pathogenic variants. As in a few reported cases with CACNA1E variants and epilepsy, one patient showed a positive clinical behavioral response to topiramate, a specific calcium channel modulator. LIMITATIONS: The significance of our study is limited by the absence of functional experiments of the effect of identified variants, the small sample size and the lack of systematic ASD assessment in all participants. Moreover, topiramate was given to one patient only and for a short period of time. CONCLUSIONS: Our results indicate that CACNA1E variants may result in neurodevelopmental disorders without epilepsy and expand the mutational and phenotypic spectrum of this gene. CACNA1E deserves to be included in gene panels for non-specific developmental disorders, including ASD, and not limited to patients with seizures, to improve diagnostic recognition and explore the possible efficacy of topiramate. En ligne : http://dx.doi.org/10.1186/s13229-021-00473-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 [article] De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures [texte imprimé] / Beryl ROYER-BERTRAND, Auteur ; Marine JEQUIER GYGAX, Auteur ; Katarina CISAROVA, Auteur ; Jill A. ROSENFELD, Auteur ; Jennifer A. BASSETTI, Auteur ; Oana MOLDOVAN, Auteur ; Emily O'HEIR, Auteur ; Lindsay C. BURRAGE, Auteur ; Jake ALLEN, Auteur ; Lisa T. EMRICK, Auteur ; Emma EASTMAN, Auteur ; Camille KUMPS, Auteur ; Safdar ABBAS, Auteur ; Geraldine VAN WINCKEL, Auteur ; Nadia CHABANE, Auteur ; Elaine H. ZACKAI, Auteur ; Sebastien LEBON, Auteur ; Beth KEENA, Auteur ; Elizabeth J. BHOJ, Auteur ; Muhammad UMAIR, Auteur ; Dong LI, Auteur ; Kirsten A. DONALD, Auteur ; Andrea SUPERTI-FURGA, Auteur . - 69 p. Langues : Anglais (eng) in Molecular Autism > 12 (2021) . - 69 p. Mots-clés : Autism spectrum disorder  Cacna1e  Developmental regression  Epilepsy  Exome sequencing  Global developmental delay  Intellectual disability  Neurodevelopmental disorders  Seizures  Topiramate  receives revenue from clinical genetic testing completed at Baylor Genetics  Laboratories. Index. décimale : PER Périodiques Résumé : BACKGROUND: De novo variants in the voltage-gated calcium channel subunit α1 E gene (CACNA1E) have been described as causative of epileptic encephalopathy with contractures, macrocephaly and dyskinesias. METHODS: Following the observation of an index patient with developmental delay and autism spectrum disorder (ASD) without seizures who had a de novo deleterious CACNA1E variant, we screened GeneMatcher for other individuals with CACNA1E variants and neurodevelopmental phenotypes without epilepsy. The spectrum of pathogenic CACNA1E variants was compared to the mutational landscape of variants in the gnomAD control population database. RESULTS: We identified seven unrelated individuals with intellectual disability, developmental regression and ASD-like behavioral profile, and notably without epilepsy, who had de novo heterozygous putatively pathogenic variants in CACNA1E. Age of onset of clinical manifestation, presence or absence of regression and degree of severity were variable, and no clear-cut genotype-phenotype association could be recognized. The analysis of disease-associated variants and their comparison to benign variants from the control population allowed for the identification of regions in the CACNA1E protein that seem to be intolerant to substitutions and thus more likely to harbor pathogenic variants. As in a few reported cases with CACNA1E variants and epilepsy, one patient showed a positive clinical behavioral response to topiramate, a specific calcium channel modulator. LIMITATIONS: The significance of our study is limited by the absence of functional experiments of the effect of identified variants, the small sample size and the lack of systematic ASD assessment in all participants. Moreover, topiramate was given to one patient only and for a short period of time. CONCLUSIONS: Our results indicate that CACNA1E variants may result in neurodevelopmental disorders without epilepsy and expand the mutational and phenotypic spectrum of this gene. CACNA1E deserves to be included in gene panels for non-specific developmental disorders, including ASD, and not limited to patients with seizures, to improve diagnostic recognition and explore the possible efficacy of topiramate. En ligne : http://dx.doi.org/10.1186/s13229-021-00473-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459

Validity of the SNAP-IV For ADHD Assessment in South African Children With Neurodevelopmental Disorders / Michal R. ZIEFF in Journal of Autism and Developmental Disorders, 53-7 (July 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-7 (July 2023) . - p.2851-2862 Titre : Validity of the SNAP-IV For ADHD Assessment in South African Children With Neurodevelopmental Disorders Type de document : texte imprimé Auteurs : Michal R. ZIEFF, Auteur ; Michelle HOOGENHOUT, Auteur ; Emma EASTMAN, Auteur ; Björn U. CHRIST, Auteur ; Alice GALVIN, Auteur ; Victoria DE MENIL, Auteur ; Amina ABUBAKAR, Auteur ; Charles R. NEWTON, Auteur ; Elise B. ROBINSON, Auteur ; Kirsten A. DONALD, Auteur Article en page(s) : p.2851-2862 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : This study investigated the psychometric properties of the Swanson, Nolan, and Pelham ADHD Rating Scale (SNAP-IV) in a sample of South African children with neurodevelopmental disorders (n 201), primarily Autism Spectrum Disorder and Intellectual Disability. We conducted a confirmatory factor analysis to inspect the two-factor structure of the SNAP-IV. We also calculated ordinal coefficient alpha to estimate internal consistency. Fit statistics for the two-factor model approached acceptable levels. The model fit improved slightly after removing an item related to spoken language. The subscales had acceptable internal consistencies. Findings partially support the use of the SNAP-IV in this group of children. However, there are limitations to its performance in this population likely related to the presence of neurodevelopmental disorders. En ligne : https://doi.org/10.1007/s10803-022-05530-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=508 [article] Validity of the SNAP-IV For ADHD Assessment in South African Children With Neurodevelopmental Disorders [texte imprimé] / Michal R. ZIEFF, Auteur ; Michelle HOOGENHOUT, Auteur ; Emma EASTMAN, Auteur ; Björn U. CHRIST, Auteur ; Alice GALVIN, Auteur ; Victoria DE MENIL, Auteur ; Amina ABUBAKAR, Auteur ; Charles R. NEWTON, Auteur ; Elise B. ROBINSON, Auteur ; Kirsten A. DONALD, Auteur . - p.2851-2862. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-7 (July 2023) . - p.2851-2862 Index. décimale : PER Périodiques Résumé : This study investigated the psychometric properties of the Swanson, Nolan, and Pelham ADHD Rating Scale (SNAP-IV) in a sample of South African children with neurodevelopmental disorders (n 201), primarily Autism Spectrum Disorder and Intellectual Disability. We conducted a confirmatory factor analysis to inspect the two-factor structure of the SNAP-IV. We also calculated ordinal coefficient alpha to estimate internal consistency. Fit statistics for the two-factor model approached acceptable levels. The model fit improved slightly after removing an item related to spoken language. The subscales had acceptable internal consistencies. Findings partially support the use of the SNAP-IV in this group of children. However, there are limitations to its performance in this population likely related to the presence of neurodevelopmental disorders. En ligne : https://doi.org/10.1007/s10803-022-05530-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=508

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