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 et/ou numérique Auteurs : A. Ting WANG, Auteur ; T. LIM, Auteur ; J. JAMISON, Auteur ; L. BUSH, Auteur ; L. V. SOORYA, Auteur ; Teresa TAVASSOLI, Auteur ; P. M. SIPER, Auteur ; Joseph D. BUXBAUM, Auteur ; A. 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 et/ou numérique] / A. Ting WANG, Auteur ; T. LIM, Auteur ; J. JAMISON, Auteur ; L. BUSH, Auteur ; L. V. SOORYA, Auteur ; Teresa TAVASSOLI, Auteur ; P. M. SIPER, Auteur ; Joseph D. BUXBAUM, Auteur ; A. 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 et/ou numérique Auteurs : A. Ting WANG, Auteur ; T. LIM, Auteur ; J. JAMISON, Auteur ; L. BUSH, Auteur ; L. V. SOORYA, Auteur ; Teresa TAVASSOLI, Auteur ; P. M. SIPER, Auteur ; Joseph D. BUXBAUM, Auteur ; A. 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 et/ou numérique] / A. Ting WANG, Auteur ; T. LIM, Auteur ; J. JAMISON, Auteur ; L. BUSH, Auteur ; L. V. SOORYA, Auteur ; Teresa TAVASSOLI, Auteur ; P. M. SIPER, Auteur ; Joseph D. BUXBAUM, Auteur ; A. 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

Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring / A. KOLEVZON in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.39 Titre : Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring Type de document : Texte imprimé et/ou numérique Auteurs : A. KOLEVZON, Auteur ; Benjamin ANGARITA, Auteur ; L. BUSH, Auteur ; A. Ting WANG, Auteur ; Y. FRANK, Auteur ; A. YANG, Auteur ; R. RAPAPORT, Auteur ; J. SALAND, Auteur ; S. SRIVASTAVA, Auteur ; C. FARRELL, Auteur ; L. J. EDELMANN, Auteur ; Joseph D. BUXBAUM, Auteur Article en page(s) : p.39 Langues : Anglais (eng) Mots-clés : 22q13 deletion syndrome  Autism  Autism spectrum disorder  Neurodevelopmental disorders  Phelan-McDermid syndrome  Practice parameters  Shank3 Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) and intellectual disability (ID) can be caused by mutations in a large number of genes. One example is SHANK3 on the terminal end of chromosome 22q. Loss of one functional copy of SHANK3 results in 22q13 deletion syndrome or Phelan-McDermid syndrome (PMS) and causes a monogenic form of ASD and/or ID with a frequency of 0.5% to 2% of cases. SHANK3 is the critical gene in this syndrome, and its loss results in disruption of synaptic function. With chromosomal microarray analyses now a standard of care in the assessment of ASD and developmental delay, and with the emergence of whole exome and whole genome sequencing in this context, identification of PMS in routine clinical settings will increase significantly. However, PMS remains a rare disorder, and the majority of physicians have never seen a case. While there is agreement about core deficits of PMS, there have been no established parameters to guide evaluation and medical monitoring of the syndrome. Evaluations must include a thorough history and physical and dysmorphology examination. Neurological deficits, including the presence of seizures and structural brain abnormalities should be assessed as well as motor deficits. Endocrine, renal, cardiac, and gastrointestinal problems all require assessment and monitoring in addition to the risk of recurring infections, dental and vision problems, and lymphedema. Finally, all patients should have cognitive, behavioral, and ASD evaluations. The objective of this paper is to address this gap in the literature and establish recommendations to assess the medical, genetic, and neurological features of PMS. En ligne : http://dx.doi.org/10.1186/1866-1955-6-39 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring [Texte imprimé et/ou numérique] / A. KOLEVZON, Auteur ; Benjamin ANGARITA, Auteur ; L. BUSH, Auteur ; A. Ting WANG, Auteur ; Y. FRANK, Auteur ; A. YANG, Auteur ; R. RAPAPORT, Auteur ; J. SALAND, Auteur ; S. SRIVASTAVA, Auteur ; C. FARRELL, Auteur ; L. J. EDELMANN, Auteur ; Joseph D. BUXBAUM, Auteur . - p.39. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.39 Mots-clés : 22q13 deletion syndrome  Autism  Autism spectrum disorder  Neurodevelopmental disorders  Phelan-McDermid syndrome  Practice parameters  Shank3 Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) and intellectual disability (ID) can be caused by mutations in a large number of genes. One example is SHANK3 on the terminal end of chromosome 22q. Loss of one functional copy of SHANK3 results in 22q13 deletion syndrome or Phelan-McDermid syndrome (PMS) and causes a monogenic form of ASD and/or ID with a frequency of 0.5% to 2% of cases. SHANK3 is the critical gene in this syndrome, and its loss results in disruption of synaptic function. With chromosomal microarray analyses now a standard of care in the assessment of ASD and developmental delay, and with the emergence of whole exome and whole genome sequencing in this context, identification of PMS in routine clinical settings will increase significantly. However, PMS remains a rare disorder, and the majority of physicians have never seen a case. While there is agreement about core deficits of PMS, there have been no established parameters to guide evaluation and medical monitoring of the syndrome. Evaluations must include a thorough history and physical and dysmorphology examination. Neurological deficits, including the presence of seizures and structural brain abnormalities should be assessed as well as motor deficits. Endocrine, renal, cardiac, and gastrointestinal problems all require assessment and monitoring in addition to the risk of recurring infections, dental and vision problems, and lymphedema. Finally, all patients should have cognitive, behavioral, and ASD evaluations. The objective of this paper is to address this gap in the literature and establish recommendations to assess the medical, genetic, and neurological features of PMS. En ligne : http://dx.doi.org/10.1186/1866-1955-6-39 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

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