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De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures / B. ROYER-BERTRAND in Molecular Autism, 12 (2021)
[article]
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 et/ou numérique Auteurs : B. ROYER-BERTRAND, Auteur ; M. JEQUIER GYGAX, Auteur ; K. CISAROVA, Auteur ; J. A. ROSENFELD, Auteur ; J. A. BASSETTI, Auteur ; O. MOLDOVAN, Auteur ; E. O'HEIR, Auteur ; L. C. BURRAGE, Auteur ; J. ALLEN, Auteur ; L. T. EMRICK, Auteur ; E. EASTMAN, Auteur ; C. KUMPS, Auteur ; S. ABBAS, Auteur ; G. VAN WINCKEL, Auteur ; Nadia CHABANE, Auteur ; E. H. ZACKAI, Auteur ; S. LEBON, Auteur ; B. KEENA, Auteur ; E. J. BHOJ, Auteur ; M. UMAIR, Auteur ; D. LI, Auteur ; K. A. DONALD, Auteur ; A. 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 ?1 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
in Molecular Autism > 12 (2021) . - 69 p.[article] De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures [Texte imprimé et/ou numérique] / B. ROYER-BERTRAND, Auteur ; M. JEQUIER GYGAX, Auteur ; K. CISAROVA, Auteur ; J. A. ROSENFELD, Auteur ; J. A. BASSETTI, Auteur ; O. MOLDOVAN, Auteur ; E. O'HEIR, Auteur ; L. C. BURRAGE, Auteur ; J. ALLEN, Auteur ; L. T. EMRICK, Auteur ; E. EASTMAN, Auteur ; C. KUMPS, Auteur ; S. ABBAS, Auteur ; G. VAN WINCKEL, Auteur ; Nadia CHABANE, Auteur ; E. H. ZACKAI, Auteur ; S. LEBON, Auteur ; B. KEENA, Auteur ; E. J. BHOJ, Auteur ; M. UMAIR, Auteur ; D. LI, Auteur ; K. A. DONALD, Auteur ; A. 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 ?1 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 Age of autism spectrum disorder diagnosis is associated with child's variables and parental experience / Ram A. MISHAAL in Research in Autism Spectrum Disorders, 8-7 (July 2014)
[article]
Titre : Age of autism spectrum disorder diagnosis is associated with child's variables and parental experience Type de document : Texte imprimé et/ou numérique Auteurs : Ram A. MISHAAL, Auteur ; Esther BEN-ITZCHAK, Auteur ; Ditza A. ZACHOR, Auteur Article en page(s) : p.873-880 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder (ASD) Age of diagnosis Social impairments Restricted and repetitive behaviors Developmental regression Adaptive functioning First born child Index. décimale : PER Périodiques Résumé : Abstract Early diagnosis of autism spectrum disorder (ASD) is highly important as it enables an early start to intervention. The current study examined familial (parental ages; education; having an older sibling) and child (gender; reported and observed autism symptoms severity; adaptive skills) related variables that might predict the age of ASD diagnosis. The study included 551 participants, age range 15–72 months, diagnosed with ASD who underwent comprehensive medical and behavioral assessment using standardized tests. Of the child's examined variables, the severity of the social interaction impairment reported by the parents and having a history of developmental regression was associated with an earlier age of ASD diagnosis. In contrast, the severity of the restricted and repetitive behaviors was associated with delayed age of ASD diagnosis. Vineland Adaptive Behavior Scales scores lower or higher than the group's mean (70 points) were associated with a relatively delayed age of ASD diagnosis. Of the familial variables, only having an older sibling was associated with an earlier diagnosis. Professionals should be aware that subtle signs of ASD, developmental delay and close to normal adaptive functioning might delay age of ASD diagnosis. Educating parents on “red flags” for ASD and periodic surveillance in early childhood are important. En ligne : http://dx.doi.org/10.1016/j.rasd.2014.04.001 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=233
in Research in Autism Spectrum Disorders > 8-7 (July 2014) . - p.873-880[article] Age of autism spectrum disorder diagnosis is associated with child's variables and parental experience [Texte imprimé et/ou numérique] / Ram A. MISHAAL, Auteur ; Esther BEN-ITZCHAK, Auteur ; Ditza A. ZACHOR, Auteur . - p.873-880.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 8-7 (July 2014) . - p.873-880
Mots-clés : Autism spectrum disorder (ASD) Age of diagnosis Social impairments Restricted and repetitive behaviors Developmental regression Adaptive functioning First born child Index. décimale : PER Périodiques Résumé : Abstract Early diagnosis of autism spectrum disorder (ASD) is highly important as it enables an early start to intervention. The current study examined familial (parental ages; education; having an older sibling) and child (gender; reported and observed autism symptoms severity; adaptive skills) related variables that might predict the age of ASD diagnosis. The study included 551 participants, age range 15–72 months, diagnosed with ASD who underwent comprehensive medical and behavioral assessment using standardized tests. Of the child's examined variables, the severity of the social interaction impairment reported by the parents and having a history of developmental regression was associated with an earlier age of ASD diagnosis. In contrast, the severity of the restricted and repetitive behaviors was associated with delayed age of ASD diagnosis. Vineland Adaptive Behavior Scales scores lower or higher than the group's mean (70 points) were associated with a relatively delayed age of ASD diagnosis. Of the familial variables, only having an older sibling was associated with an earlier diagnosis. Professionals should be aware that subtle signs of ASD, developmental delay and close to normal adaptive functioning might delay age of ASD diagnosis. Educating parents on “red flags” for ASD and periodic surveillance in early childhood are important. En ligne : http://dx.doi.org/10.1016/j.rasd.2014.04.001 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=233 Using latent class analysis to identify treatment-use subgroups among parents of children with autism spectrum disorder / S. S. MIRE in Autism Research, 12-5 (May 2019)
[article]
Titre : Using latent class analysis to identify treatment-use subgroups among parents of children with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : S. S. MIRE, Auteur ; S. MCQUILLIN, Auteur ; M. RACINE, Auteur ; R. P. GOIN-KOCHEL, Auteur Article en page(s) : p.843-854 Langues : Anglais (eng) Mots-clés : Asd autism developmental regression latent class analysis treatment Index. décimale : PER Périodiques Résumé : Among parents of 2,582 children (ages 4-17 years old) with autism spectrum disorder (ASD), we used latent class analysis to identify subgroups and profiles of treatment users and included annual household income in the specification of the models, then described characteristics of each subgroup. Based on three indicators of fit (Akaike's Information Criterion, Bayesian Information Criterion, and Lo-Mendell-Rubin), six latent classes of treatment users emerged. Subgroups included users of: (a) mostly private and school speech and occupational therapies; (b) nearly all treatment types; (c) mostly speech and occupational therapies, plus intensive behavioral and "other" treatments, but little medication use; (d) private therapies almost exclusively; (e) primarily psychotropic medications; and (f) mostly school-based therapies. Income significantly predicted class differences for all but one latent class. Probabilities of families' lifetime use of nine treatment types varied depending on latent classification. Proportions of families reporting having observed children's developmental regression were largest in those with the highest overall treatment use, and these children also had the lowest cognitive and adaptive-functioning scores and the highest ASD symptom scores. Understanding patterns of treatment use among families of children with ASD is an important first step in enhancing treatment-related selection and implementation. Autism Research 2019, 12: 843-854. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: We identified six different groups of treatment users to help explain patterns in treatment implementation among parents of children and adolescents with autism. These included families who used: (a) mostly used private and school speech and occupational therapies; (b) nearly all treatment types (private and school therapies, intensive behavioral, biomedical, psychotropic medications, and other treatments); (c) mostly speech and occupational therapies, plus intensive behavioral and "other" treatments, but little medication use; (d) private therapies almost exclusively; (e) primarily psychotropic medications; and (f) mostly school-based therapies. En ligne : http://dx.doi.org/10.1002/aur.2107 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=397
in Autism Research > 12-5 (May 2019) . - p.843-854[article] Using latent class analysis to identify treatment-use subgroups among parents of children with autism spectrum disorder [Texte imprimé et/ou numérique] / S. S. MIRE, Auteur ; S. MCQUILLIN, Auteur ; M. RACINE, Auteur ; R. P. GOIN-KOCHEL, Auteur . - p.843-854.
Langues : Anglais (eng)
in Autism Research > 12-5 (May 2019) . - p.843-854
Mots-clés : Asd autism developmental regression latent class analysis treatment Index. décimale : PER Périodiques Résumé : Among parents of 2,582 children (ages 4-17 years old) with autism spectrum disorder (ASD), we used latent class analysis to identify subgroups and profiles of treatment users and included annual household income in the specification of the models, then described characteristics of each subgroup. Based on three indicators of fit (Akaike's Information Criterion, Bayesian Information Criterion, and Lo-Mendell-Rubin), six latent classes of treatment users emerged. Subgroups included users of: (a) mostly private and school speech and occupational therapies; (b) nearly all treatment types; (c) mostly speech and occupational therapies, plus intensive behavioral and "other" treatments, but little medication use; (d) private therapies almost exclusively; (e) primarily psychotropic medications; and (f) mostly school-based therapies. Income significantly predicted class differences for all but one latent class. Probabilities of families' lifetime use of nine treatment types varied depending on latent classification. Proportions of families reporting having observed children's developmental regression were largest in those with the highest overall treatment use, and these children also had the lowest cognitive and adaptive-functioning scores and the highest ASD symptom scores. Understanding patterns of treatment use among families of children with ASD is an important first step in enhancing treatment-related selection and implementation. Autism Research 2019, 12: 843-854. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: We identified six different groups of treatment users to help explain patterns in treatment implementation among parents of children and adolescents with autism. These included families who used: (a) mostly used private and school speech and occupational therapies; (b) nearly all treatment types (private and school therapies, intensive behavioral, biomedical, psychotropic medications, and other treatments); (c) mostly speech and occupational therapies, plus intensive behavioral and "other" treatments, but little medication use; (d) private therapies almost exclusively; (e) primarily psychotropic medications; and (f) mostly school-based therapies. En ligne : http://dx.doi.org/10.1002/aur.2107 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=397