Methods for acquiring MRI data in children with autism spectrum disorder and intellectual impairment without the use of sedation / Christine W. NORDAHL in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.20 Titre : Methods for acquiring MRI data in children with autism spectrum disorder and intellectual impairment without the use of sedation Type de document : Texte imprimé et/ou numérique Auteurs : Christine W. NORDAHL, Auteur ; M. MELLO, Auteur ; A. M. SHEN, Auteur ; M. D. SHEN, Auteur ; Laurie A. VISMARA, Auteur ; D. LI, Auteur ; K. HARRINGTON, Auteur ; C. TANASE, Auteur ; Beth GOODLIN-JONES, Auteur ; S. ROGERS, Auteur ; Leonard ABBEDUTO, Auteur ; David G. AMARAL, Auteur Article en page(s) : p.20 Langues : Anglais (eng) Mots-clés : Applied behavior analysis  Brain  Compliance  Intellectual disability  Low-functioning autism  Mri  Neurodevelopment Index. décimale : PER Périodiques Résumé : BACKGROUND: Magnetic resonance imaging (MRI) has been widely used in studies evaluating the neuropathology of autism spectrum disorder (ASD). Studies are often limited, however, to higher functioning individuals with ASD. MRI studies of individuals with ASD and comorbid intellectual disability (ID) are lacking, due in part to the challenges of acquiring images without the use of sedation. METHODS: Utilizing principles of applied behavior analysis (ABA), we developed a protocol for acquiring structural MRI scans in school-aged children with ASD and intellectual impairment. Board certified behavior analysts worked closely with each child and their parent(s), utilizing behavior change techniques such as pairing, shaping, desensitization, and positive reinforcement, through a series of mock scanner visits to prepare the child for the MRI scan. An objective, quantitative assessment of motion artifact in T1- and diffusion-weighted scans was implemented to ensure that high-quality images were acquired. RESULTS: The sample consisted of 17 children with ASD who are participants in the UC Davis Autism Phenome Project, a longitudinal MRI study aimed at evaluating brain developmental trajectories from early to middle childhood. At the time of their initial scan (2-3.5 years), all 17 children had a diagnosis of ASD and development quotient (DQ) <70. At the time of the current scan (9-13 years), 13 participants continued to have IQs in the range of ID (mean IQ = 54.1, sd = 12.1), and four participants had IQs in the normal range (mean = 102.2, sd = 7.5). The success rate in acquiring T1-weighted images that met quality assurance for acceptable motion artifact was 100 %. The success rate for acquiring high-quality diffusion-weighted images was 94 %. CONCLUSIONS: By using principles of ABA in a research MRI setting, it is feasible to acquire high-quality images in school-aged children with ASD and intellectual impairment without the use of sedation. This is especially critical to ensure that ongoing longitudinal studies of brain development can extend from infancy and early childhood into middle childhood in children with ASD at all levels of functioning, including those with comorbid ID. En ligne : http://dx.doi.org/10.1186/s11689-016-9154-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Methods for acquiring MRI data in children with autism spectrum disorder and intellectual impairment without the use of sedation [Texte imprimé et/ou numérique] / Christine W. NORDAHL, Auteur ; M. MELLO, Auteur ; A. M. SHEN, Auteur ; M. D. SHEN, Auteur ; Laurie A. VISMARA, Auteur ; D. LI, Auteur ; K. HARRINGTON, Auteur ; C. TANASE, Auteur ; Beth GOODLIN-JONES, Auteur ; S. ROGERS, Auteur ; Leonard ABBEDUTO, Auteur ; David G. AMARAL, Auteur . - p.20. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.20 Mots-clés : Applied behavior analysis  Brain  Compliance  Intellectual disability  Low-functioning autism  Mri  Neurodevelopment Index. décimale : PER Périodiques Résumé : BACKGROUND: Magnetic resonance imaging (MRI) has been widely used in studies evaluating the neuropathology of autism spectrum disorder (ASD). Studies are often limited, however, to higher functioning individuals with ASD. MRI studies of individuals with ASD and comorbid intellectual disability (ID) are lacking, due in part to the challenges of acquiring images without the use of sedation. METHODS: Utilizing principles of applied behavior analysis (ABA), we developed a protocol for acquiring structural MRI scans in school-aged children with ASD and intellectual impairment. Board certified behavior analysts worked closely with each child and their parent(s), utilizing behavior change techniques such as pairing, shaping, desensitization, and positive reinforcement, through a series of mock scanner visits to prepare the child for the MRI scan. An objective, quantitative assessment of motion artifact in T1- and diffusion-weighted scans was implemented to ensure that high-quality images were acquired. RESULTS: The sample consisted of 17 children with ASD who are participants in the UC Davis Autism Phenome Project, a longitudinal MRI study aimed at evaluating brain developmental trajectories from early to middle childhood. At the time of their initial scan (2-3.5 years), all 17 children had a diagnosis of ASD and development quotient (DQ) <70. At the time of the current scan (9-13 years), 13 participants continued to have IQs in the range of ID (mean IQ = 54.1, sd = 12.1), and four participants had IQs in the normal range (mean = 102.2, sd = 7.5). The success rate in acquiring T1-weighted images that met quality assurance for acceptable motion artifact was 100 %. The success rate for acquiring high-quality diffusion-weighted images was 94 %. CONCLUSIONS: By using principles of ABA in a research MRI setting, it is feasible to acquire high-quality images in school-aged children with ASD and intellectual impairment without the use of sedation. This is especially critical to ensure that ongoing longitudinal studies of brain development can extend from infancy and early childhood into middle childhood in children with ASD at all levels of functioning, including those with comorbid ID. En ligne : http://dx.doi.org/10.1186/s11689-016-9154-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

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)  

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 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 [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

Reliability of parent recall of symptom onset and timing in autism spectrum disorder / S. OZONOFF in Autism, 22-7 (October 2018)  

Public ISBD [article]  inAutism > 22-7 (October 2018) . - p.891-896 Titre : Reliability of parent recall of symptom onset and timing in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : S. OZONOFF, Auteur ; D. LI, Auteur ; L. DEPREY, Auteur ; E. P. HANZEL, Auteur ; A. M. IOSIF, Auteur Article en page(s) : p.891-896 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  onset  parent report  regression Index. décimale : PER Périodiques Résumé : Past events are often reported as occurring more recently than they actually took place, an error called forward telescoping. This study examined whether forward telescoping was evident in parent reports of autism spectrum disorder symptom emergence and onset classification. Parents were interviewed when their child was 2-3 years old (Time 1) and approximately 6 years old (Time 2). Significant forward telescoping was found in both age of social regression and age when language milestones were achieved, but not age of language regression. The correspondence between Time 1 and Time 2 onset report was low ( kappa = 0.38). Approximately one-quarter of the sample changed onset categories, most often due to parents not recalling a regression at Time 2 that they had reported at Time 1. These results challenge the use of retrospective methods in determining onset patterns. En ligne : http://dx.doi.org/10.1177/1362361317710798 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=370 [article] Reliability of parent recall of symptom onset and timing in autism spectrum disorder [Texte imprimé et/ou numérique] / S. OZONOFF, Auteur ; D. LI, Auteur ; L. DEPREY, Auteur ; E. P. HANZEL, Auteur ; A. M. IOSIF, Auteur . - p.891-896. Langues : Anglais (eng) in Autism > 22-7 (October 2018) . - p.891-896 Mots-clés : autism spectrum disorder  onset  parent report  regression Index. décimale : PER Périodiques Résumé : Past events are often reported as occurring more recently than they actually took place, an error called forward telescoping. This study examined whether forward telescoping was evident in parent reports of autism spectrum disorder symptom emergence and onset classification. Parents were interviewed when their child was 2-3 years old (Time 1) and approximately 6 years old (Time 2). Significant forward telescoping was found in both age of social regression and age when language milestones were achieved, but not age of language regression. The correspondence between Time 1 and Time 2 onset report was low ( kappa = 0.38). Approximately one-quarter of the sample changed onset categories, most often due to parents not recalling a regression at Time 2 that they had reported at Time 1. These results challenge the use of retrospective methods in determining onset patterns. En ligne : http://dx.doi.org/10.1177/1362361317710798 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=370

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