Erratum to: Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome / A. Ting WANG in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.8 Titre : Erratum to: Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome Type de document : texte imprimé Auteurs : A. Ting WANG, Auteur ; Teresa LIM, Auteur ; Jesslyn JAMISON, Auteur ; Lauren BUSH, Auteur ; Latha V. SOORYA, Auteur ; Teresa TAVASSOLI, Auteur ; Paige M. SIPER, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur Article en page(s) : p.8 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/s11689-016-9138-9.]. En ligne : http://dx.doi.org/10.1186/s11689-016-9143-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Erratum to: Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome [texte imprimé] / A. Ting WANG, Auteur ; Teresa LIM, Auteur ; Jesslyn JAMISON, Auteur ; Lauren BUSH, Auteur ; Latha V. SOORYA, Auteur ; Teresa TAVASSOLI, Auteur ; Paige M. SIPER, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur . - p.8. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.8 Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/s11689-016-9138-9.]. En ligne : http://dx.doi.org/10.1186/s11689-016-9143-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome / A. Ting WANG in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.5 Titre : Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome Type de document : texte imprimé Auteurs : A. Ting WANG, Auteur ; Teresa LIM, Auteur ; Jesslyn JAMISON, Auteur ; Lauren BUSH, Auteur ; Latha V. SOORYA, Auteur ; Teresa TAVASSOLI, Auteur ; Paige M. SIPER, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur Article en page(s) : p.5 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS), a neurodevelopmental disorder caused by deletion or mutation in the SHANK3 gene, is one of the more common single-locus causes of autism spectrum disorder (ASD). PMS is characterized by global developmental delay, hypotonia, delayed or absent speech, increased risk of seizures, and minor dysmorphic features. Impairments in language and communication are one of the most consistent characteristics of PMS. Although there is considerable overlap in the social communicative deficits associated with PMS and ASD, there is a dearth of data on underlying abnormalities at the level of neural systems in PMS. No controlled neuroimaging studies of PMS have been reported to date. The goal of this study was to examine the neural circuitry supporting the perception of auditory communicative signals in children with PMS as compared to idiopathic ASD (iASD). METHODS: Eleven children with PMS and nine comparison children with iASD were scanned using functional magnetic resonance imaging (fMRI) under light sedation. The fMRI paradigm was a previously validated passive auditory task, which presented communicative (e.g., speech, sounds of agreement, disgust) and non-communicative vocalizations (e.g., sneezing, coughing, yawning). RESULTS: Previous research has shown that the superior temporal gyrus (STG) responds selectively to communicative vocal signals in typically developing children and adults. Here, selective activity for communicative relative to non-communicative vocalizations was detected in the right STG in the PMS group, but not in the iASD group. The PMS group also showed preferential activity for communicative vocalizations in a range of other brain regions associated with social cognition, such as the medial prefrontal cortex (MPFC), insula, and inferior frontal gyrus. Interestingly, better orienting toward social sounds was positively correlated with selective activity in the STG and other "social brain" regions, including the MPFC, in the PMS group. Finally, selective MPFC activity for communicative sounds was associated with receptive language level in the PMS group and expressive language in the iASD group. CONCLUSIONS: Despite shared behavioral features, children with PMS differed from children with iASD in their neural response to communicative vocal sounds and showed relative strengths in this area. Furthermore, the relationship between clinical characteristics and neural selectivity also differed between the two groups, suggesting that shared ASD features may partially reflect different neurofunctional abnormalities due to differing etiologies. En ligne : http://dx.doi.org/10.1186/s11689-016-9138-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome [texte imprimé] / A. Ting WANG, Auteur ; Teresa LIM, Auteur ; Jesslyn JAMISON, Auteur ; Lauren BUSH, Auteur ; Latha V. SOORYA, Auteur ; Teresa TAVASSOLI, Auteur ; Paige M. SIPER, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur . - p.5. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.5 Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS), a neurodevelopmental disorder caused by deletion or mutation in the SHANK3 gene, is one of the more common single-locus causes of autism spectrum disorder (ASD). PMS is characterized by global developmental delay, hypotonia, delayed or absent speech, increased risk of seizures, and minor dysmorphic features. Impairments in language and communication are one of the most consistent characteristics of PMS. Although there is considerable overlap in the social communicative deficits associated with PMS and ASD, there is a dearth of data on underlying abnormalities at the level of neural systems in PMS. No controlled neuroimaging studies of PMS have been reported to date. The goal of this study was to examine the neural circuitry supporting the perception of auditory communicative signals in children with PMS as compared to idiopathic ASD (iASD). METHODS: Eleven children with PMS and nine comparison children with iASD were scanned using functional magnetic resonance imaging (fMRI) under light sedation. The fMRI paradigm was a previously validated passive auditory task, which presented communicative (e.g., speech, sounds of agreement, disgust) and non-communicative vocalizations (e.g., sneezing, coughing, yawning). RESULTS: Previous research has shown that the superior temporal gyrus (STG) responds selectively to communicative vocal signals in typically developing children and adults. Here, selective activity for communicative relative to non-communicative vocalizations was detected in the right STG in the PMS group, but not in the iASD group. The PMS group also showed preferential activity for communicative vocalizations in a range of other brain regions associated with social cognition, such as the medial prefrontal cortex (MPFC), insula, and inferior frontal gyrus. Interestingly, better orienting toward social sounds was positively correlated with selective activity in the STG and other "social brain" regions, including the MPFC, in the PMS group. Finally, selective MPFC activity for communicative sounds was associated with receptive language level in the PMS group and expressive language in the iASD group. CONCLUSIONS: Despite shared behavioral features, children with PMS differed from children with iASD in their neural response to communicative vocal sounds and showed relative strengths in this area. Furthermore, the relationship between clinical characteristics and neural selectivity also differed between the two groups, suggesting that shared ASD features may partially reflect different neurofunctional abnormalities due to differing etiologies. En ligne : http://dx.doi.org/10.1186/s11689-016-9138-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency / Latha V. SOORYA in Molecular Autism, (June 2013)  

Public ISBD [article]  inMolecular Autism > (June 2013) . - 35 p. Titre : Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency Type de document : texte imprimé Auteurs : Latha V. SOORYA, Auteur ; Alexander KOLEVZON, Auteur ; Jessica ZWEIFACH, Auteur ; Teresa LIM, Auteur ; Yuriy DOBRY, Auteur ; Lily SCHWARTZ, Auteur ; Yitzchak FRANK, Auteur ; A. Ting WANG, Auteur ; Guiqing CAI, Auteur ; Elena PARKHOMENKO, Auteur ; Danielle B. HALPERN, Auteur ; David GRODBERG, Auteur ; Benjamin ANGARITA, Auteur ; Judith WILLNER, Auteur ; Amy YANG, Auteur ; Roberto CANITANO, Auteur ; William CHAPLIN, Auteur ; Catalina BETANCUR, Auteur ; Joseph D. BUXBAUM, Auteur Année de publication : 2013 Article en page(s) : 35 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND:22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a neurodevelopmental disorder characterized by intellectual disability, hypotonia, delayed or absent speech, and autistic features. SHANK3 has been identified as the critical gene in the neurological and behavioral aspects of this syndrome. The phenotype of SHANK3 deficiency has been described primarily from case studies, with limited evaluation of behavioral and cognitive deficits. The present study used a prospective design and inter-disciplinary clinical evaluations to assess patients with SHANK3 deficiency, with the goal to provide a comprehensive picture of the medical and behavioral profile of the syndrome.METHODS:A serially ascertained sample of patients with SHANK3 deficiency (n = 32) was evaluated by a team of child psychiatrists, neurologists, clinical geneticists, molecular geneticists and psychologists. Patients were evaluated for autism spectrum disorder using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule-G.RESULTS:Thirty participants with 22q13.3 deletions ranging in size from 101 kb to 8.45 Mb and two participants with de novo SHANK3 mutations were included. The sample was characterized by high rates of autism spectrum disorder: 27 (84%) met criteria for autism spectrum disorder and 24 (75%) for autistic disorder. Most patients (77%) exhibited severe to profound intellectual disability and only five (19%) used some words spontaneously to communicate. Dysmorphic features, hypotonia, gait disturbance, recurring upper respiratory tract infections, gastroesophageal reflux and seizures were also common. Analysis of genotype-phenotype correlations indicated that larger deletions were associated with increased levels of dysmorphic features, medical comorbidities and social communication impairments related to autism. Analyses of individuals with small deletions or point mutations identified features related to SHANK3 haploinsufficiency, including ASD, seizures and abnormal EEG, hypotonia, sleep disturbances, abnormal brain MRI, gastroesophageal reflux, and certain dysmorphic features.CONCLUSIONS:This study supports findings from previous research on the severity of intellectual, motor, and speech impairments seen in SHANK3 deficiency, and highlights the predominance of autism spectrum disorder in the syndrome. Limitations of existing evaluation tools are discussed, along with the need for natural history studies to inform clinical monitoring and treatment development in SHANK3 deficiency. En ligne : http://dx.doi.org/10.1186/2040-2392-4-18 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 [article] Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency [texte imprimé] / Latha V. SOORYA, Auteur ; Alexander KOLEVZON, Auteur ; Jessica ZWEIFACH, Auteur ; Teresa LIM, Auteur ; Yuriy DOBRY, Auteur ; Lily SCHWARTZ, Auteur ; Yitzchak FRANK, Auteur ; A. Ting WANG, Auteur ; Guiqing CAI, Auteur ; Elena PARKHOMENKO, Auteur ; Danielle B. HALPERN, Auteur ; David GRODBERG, Auteur ; Benjamin ANGARITA, Auteur ; Judith WILLNER, Auteur ; Amy YANG, Auteur ; Roberto CANITANO, Auteur ; William CHAPLIN, Auteur ; Catalina BETANCUR, Auteur ; Joseph D. BUXBAUM, Auteur . - 2013 . - 35 p. Langues : Anglais (eng) in Molecular Autism > (June 2013) . - 35 p. Index. décimale : PER Périodiques Résumé : BACKGROUND:22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a neurodevelopmental disorder characterized by intellectual disability, hypotonia, delayed or absent speech, and autistic features. SHANK3 has been identified as the critical gene in the neurological and behavioral aspects of this syndrome. The phenotype of SHANK3 deficiency has been described primarily from case studies, with limited evaluation of behavioral and cognitive deficits. The present study used a prospective design and inter-disciplinary clinical evaluations to assess patients with SHANK3 deficiency, with the goal to provide a comprehensive picture of the medical and behavioral profile of the syndrome.METHODS:A serially ascertained sample of patients with SHANK3 deficiency (n = 32) was evaluated by a team of child psychiatrists, neurologists, clinical geneticists, molecular geneticists and psychologists. Patients were evaluated for autism spectrum disorder using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule-G.RESULTS:Thirty participants with 22q13.3 deletions ranging in size from 101 kb to 8.45 Mb and two participants with de novo SHANK3 mutations were included. The sample was characterized by high rates of autism spectrum disorder: 27 (84%) met criteria for autism spectrum disorder and 24 (75%) for autistic disorder. Most patients (77%) exhibited severe to profound intellectual disability and only five (19%) used some words spontaneously to communicate. Dysmorphic features, hypotonia, gait disturbance, recurring upper respiratory tract infections, gastroesophageal reflux and seizures were also common. Analysis of genotype-phenotype correlations indicated that larger deletions were associated with increased levels of dysmorphic features, medical comorbidities and social communication impairments related to autism. Analyses of individuals with small deletions or point mutations identified features related to SHANK3 haploinsufficiency, including ASD, seizures and abnormal EEG, hypotonia, sleep disturbances, abnormal brain MRI, gastroesophageal reflux, and certain dysmorphic features.CONCLUSIONS:This study supports findings from previous research on the severity of intellectual, motor, and speech impairments seen in SHANK3 deficiency, and highlights the predominance of autism spectrum disorder in the syndrome. Limitations of existing evaluation tools are discussed, along with the need for natural history studies to inform clinical monitoring and treatment development in SHANK3 deficiency. En ligne : http://dx.doi.org/10.1186/2040-2392-4-18 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202

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