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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 Diagnostic and Therapeutic Misconception: Parental Expectations and Perspectives Regarding Genetic Testing for Developmental Disorders / I. TREMBLAY in Journal of Autism and Developmental Disorders, 49-1 (January 2019)
[article]
Titre : Diagnostic and Therapeutic Misconception: Parental Expectations and Perspectives Regarding Genetic Testing for Developmental Disorders Type de document : Texte imprimé et/ou numérique Auteurs : I. TREMBLAY, Auteur ; S. GRONDIN, Auteur ; A. M. LABERGE, Auteur ; D. COUSINEAU, Auteur ; L. CARMANT, Auteur ; A. ROWAN, Auteur ; A. JANVIER, Auteur Article en page(s) : p.363-375 Langues : Anglais (eng) Mots-clés : Array comparative genomic hybridization (aCGH) Autism spectrum disorder Chromosomal microarray (CMA) testing Genetic testing Global developmental delay Misconception Index. décimale : PER Périodiques Résumé : Parents' understanding/expectations regarding genetic testing for children with developmental disorders were explored. Within a month of testing, interviews were conducted with 57 parents. Many (74%) could not recall the nature of testing. Parents expected genetic testing to have positive impacts for the child (93%) and the family (98%), mainly to find the etiology and/or an intervention. Many parents (40%) reported not knowing their child's clinical diagnosis. They expected genetic testing would establish the diagnosis. Parents anticipated potential negative impacts of testing for children (78%) and families (87%), mainly finding another illness or not finding potential interventions. Abnormal results explaining the disorder were found in 9% of children. In summary, genetic results for developmental disorders are unlikely to meet parental expectations. En ligne : http://dx.doi.org/10.1007/s10803-018-3768-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=377
in Journal of Autism and Developmental Disorders > 49-1 (January 2019) . - p.363-375[article] Diagnostic and Therapeutic Misconception: Parental Expectations and Perspectives Regarding Genetic Testing for Developmental Disorders [Texte imprimé et/ou numérique] / I. TREMBLAY, Auteur ; S. GRONDIN, Auteur ; A. M. LABERGE, Auteur ; D. COUSINEAU, Auteur ; L. CARMANT, Auteur ; A. ROWAN, Auteur ; A. JANVIER, Auteur . - p.363-375.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 49-1 (January 2019) . - p.363-375
Mots-clés : Array comparative genomic hybridization (aCGH) Autism spectrum disorder Chromosomal microarray (CMA) testing Genetic testing Global developmental delay Misconception Index. décimale : PER Périodiques Résumé : Parents' understanding/expectations regarding genetic testing for children with developmental disorders were explored. Within a month of testing, interviews were conducted with 57 parents. Many (74%) could not recall the nature of testing. Parents expected genetic testing to have positive impacts for the child (93%) and the family (98%), mainly to find the etiology and/or an intervention. Many parents (40%) reported not knowing their child's clinical diagnosis. They expected genetic testing would establish the diagnosis. Parents anticipated potential negative impacts of testing for children (78%) and families (87%), mainly finding another illness or not finding potential interventions. Abnormal results explaining the disorder were found in 9% of children. In summary, genetic results for developmental disorders are unlikely to meet parental expectations. En ligne : http://dx.doi.org/10.1007/s10803-018-3768-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=377 Should Heritage Languages be Incorporated into Interventions for Bilingual Individuals with Neurodevelopmental Disorders? A Systematic Review / N. LIM in Journal of Autism and Developmental Disorders, 49-3 (March 2019)
[article]
Titre : Should Heritage Languages be Incorporated into Interventions for Bilingual Individuals with Neurodevelopmental Disorders? A Systematic Review Type de document : Texte imprimé et/ou numérique Auteurs : N. LIM, Auteur ; M. F. O'REILLY, Auteur ; J. SIGAFOOS, Auteur ; K. LEDBETTER-CHO, Auteur ; G. E. LANCIONI, Auteur Article en page(s) : p.887-912 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Bilingualism Communication disorders Global developmental delay Intellectual disability Language of instruction Neurodevelopmental disabilities Index. décimale : PER Périodiques Résumé : Special education policies recognize the need for developing and preserving the heritage languages of individuals with disabilities. Yet there seems to be a disconnect between policy and practice. Should the heritage languages of bilingual individuals with neurodevelopmental disorders be incorporated into interventions? This review evaluated 18 studies that examined the effects of heritage language instruction on treatment outcomes for individuals with neurodevelopmental disorders. Overall, results suggest a small effect favoring interventions delivered in the heritage language versus interventions delivered solely in the majority language. In general, studies were also found to be of high-quality according to What Works Clearinghouse Standards. Findings are discussed in terms of recommendations for future research and practice. En ligne : http://dx.doi.org/10.1007/s10803-018-3790-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386
in Journal of Autism and Developmental Disorders > 49-3 (March 2019) . - p.887-912[article] Should Heritage Languages be Incorporated into Interventions for Bilingual Individuals with Neurodevelopmental Disorders? A Systematic Review [Texte imprimé et/ou numérique] / N. LIM, Auteur ; M. F. O'REILLY, Auteur ; J. SIGAFOOS, Auteur ; K. LEDBETTER-CHO, Auteur ; G. E. LANCIONI, Auteur . - p.887-912.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 49-3 (March 2019) . - p.887-912
Mots-clés : Autism spectrum disorder Bilingualism Communication disorders Global developmental delay Intellectual disability Language of instruction Neurodevelopmental disabilities Index. décimale : PER Périodiques Résumé : Special education policies recognize the need for developing and preserving the heritage languages of individuals with disabilities. Yet there seems to be a disconnect between policy and practice. Should the heritage languages of bilingual individuals with neurodevelopmental disorders be incorporated into interventions? This review evaluated 18 studies that examined the effects of heritage language instruction on treatment outcomes for individuals with neurodevelopmental disorders. Overall, results suggest a small effect favoring interventions delivered in the heritage language versus interventions delivered solely in the majority language. In general, studies were also found to be of high-quality according to What Works Clearinghouse Standards. Findings are discussed in terms of recommendations for future research and practice. En ligne : http://dx.doi.org/10.1007/s10803-018-3790-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386