Dépouillements

Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay / Ozlem BOZDAGI in Molecular Autism, (April 2013)  

Public ISBD [article]  inMolecular Autism > (April 2013) . - 4 p. Titre : Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay Type de document : Texte imprimé et/ou numérique Auteurs : Ozlem BOZDAGI, Auteur ; Teresa TAVASSOLI, Auteur ; Joseph D. BUXBAUM, Auteur Année de publication : 2013 Article en page(s) : 4 p. Langues : Anglais (eng) Mots-clés : Pharmacotherapy  Personalized medicine  Individualized medicine  22q13 deletion syndrome  Phelan-McDermid syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND:Haploinsufficiency of SHANK3, due to either hemizygous gene deletion (termed 22q13 deletion syndrome or Phelan-McDermid syndrome) or to gene mutation, accounts for about 0.5% of the cases of autism spectrum disorder (ASD) and/or developmental delay, and there is evidence for a wider role for SHANK3 and glutamate signaling abnormalities in ASD and related conditions. Therapeutic approaches that reverse deficits in SHANK3-haploinsufficiency may therefore be broadly beneficial in ASD and in developmental delay.FINDINGS:We observed that daily intraperitoneal injections of human insulin-like growth factor 1 (IGF-1) over a 2-week period reversed deficits in hippocampal alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) signaling, long-term potentiation (LTP), and motor performance that we had previously reported in Shank3-deficient mice. Positive effects were observed with an IGF-1 peptide derivative as well.CONCLUSIONS:We observed significant beneficial effects of IGF-1 in a mouse model of ASD and of developmental delay. Studies in mouse and human neuronal models of Rett syndrome also show benefits with IGF-1, raising the possibility that this compound may have benefits broadly in ASD and related conditions, even with differing molecular etiology. Given the extensive safety data for IGF-1 in children with short stature due to primary IGF-1 deficiency, IGF-1 is an attractive candidate for controlled clinical trials in SHANK3-deficiency and in ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-4-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 [article] Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay [Texte imprimé et/ou numérique] / Ozlem BOZDAGI, Auteur ; Teresa TAVASSOLI, Auteur ; Joseph D. BUXBAUM, Auteur . - 2013 . - 4 p. Langues : Anglais (eng) in Molecular Autism > (April 2013) . - 4 p. Mots-clés : Pharmacotherapy  Personalized medicine  Individualized medicine  22q13 deletion syndrome  Phelan-McDermid syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND:Haploinsufficiency of SHANK3, due to either hemizygous gene deletion (termed 22q13 deletion syndrome or Phelan-McDermid syndrome) or to gene mutation, accounts for about 0.5% of the cases of autism spectrum disorder (ASD) and/or developmental delay, and there is evidence for a wider role for SHANK3 and glutamate signaling abnormalities in ASD and related conditions. Therapeutic approaches that reverse deficits in SHANK3-haploinsufficiency may therefore be broadly beneficial in ASD and in developmental delay.FINDINGS:We observed that daily intraperitoneal injections of human insulin-like growth factor 1 (IGF-1) over a 2-week period reversed deficits in hippocampal alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) signaling, long-term potentiation (LTP), and motor performance that we had previously reported in Shank3-deficient mice. Positive effects were observed with an IGF-1 peptide derivative as well.CONCLUSIONS:We observed significant beneficial effects of IGF-1 in a mouse model of ASD and of developmental delay. Studies in mouse and human neuronal models of Rett syndrome also show benefits with IGF-1, raising the possibility that this compound may have benefits broadly in ASD and related conditions, even with differing molecular etiology. Given the extensive safety data for IGF-1 in children with short stature due to primary IGF-1 deficiency, IGF-1 is an attractive candidate for controlled clinical trials in SHANK3-deficiency and in ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-4-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202

Whole-genome sequencing in an autism multiplex family / Lingling SHI in Molecular Autism, (April 2013)  

Public ISBD [article]  inMolecular Autism > (April 2013) . - 15 p. Titre : Whole-genome sequencing in an autism multiplex family Type de document : Texte imprimé et/ou numérique Auteurs : Lingling SHI, Auteur ; Xu ZHANG, Auteur ; Ryan GOLHAR, Auteur ; Frederick OTIENO, Auteur ; Mingze HE, Auteur ; Cuiping HOU, Auteur ; Cecilia KIM, Auteur ; Brendan KEATING, Auteur ; Gholson LYON, Auteur ; Kai WANG, Auteur ; Hakon HAKONARSON, Auteur Année de publication : 2013 Article en page(s) : 15 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND:Autism spectrum disorders (ASDs) represent a group of childhood neurodevelopmental disorders that affect 1 in 88 children in the US. Previous exome sequencing studies on family trios have implicated a role for rare, de-novo mutations in the pathogenesis of autism.METHODS:To examine the utility of whole-genome sequencing to identify inherited disease candidate variants and genes, we sequenced two probands from a large pedigree, including two parents and eight children. We evaluated multiple analytical strategies to identify a prioritized list of candidate genes.RESULTS:By assuming a recessive model of inheritance, we identified seven candidate genes shared by the two probands. We also evaluated a different analytical strategy that does not require the assumption of disease model, and identified a list of 59 candidate variants that may increase susceptibility to autism. Manual examination of this list identified ANK3 as the most likely candidate gene. Finally, we identified 33 prioritized non-coding variants such as those near SMG6 and COQ5, based on evolutionary constraint and experimental evidence from ENCODE. Although we were unable to confirm rigorously whether any of these genes indeed contribute to the disease, our analysis provides a prioritized shortlist for further validation studies.CONCLUSIONS:Our study represents one of the first whole-genome sequencing studies in autism leveraging a large family-based pedigree. These results provide for a discussion on the relative merits of finding de-novo mutations in sporadic cases versus finding inherited mutations in large pedigrees, in the context of neuropsychiatric and neurodevelopmental diseases. En ligne : http://dx.doi.org/10.1186/2040-2392-4-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 [article] Whole-genome sequencing in an autism multiplex family [Texte imprimé et/ou numérique] / Lingling SHI, Auteur ; Xu ZHANG, Auteur ; Ryan GOLHAR, Auteur ; Frederick OTIENO, Auteur ; Mingze HE, Auteur ; Cuiping HOU, Auteur ; Cecilia KIM, Auteur ; Brendan KEATING, Auteur ; Gholson LYON, Auteur ; Kai WANG, Auteur ; Hakon HAKONARSON, Auteur . - 2013 . - 15 p. Langues : Anglais (eng) in Molecular Autism > (April 2013) . - 15 p. Index. décimale : PER Périodiques Résumé : BACKGROUND:Autism spectrum disorders (ASDs) represent a group of childhood neurodevelopmental disorders that affect 1 in 88 children in the US. Previous exome sequencing studies on family trios have implicated a role for rare, de-novo mutations in the pathogenesis of autism.METHODS:To examine the utility of whole-genome sequencing to identify inherited disease candidate variants and genes, we sequenced two probands from a large pedigree, including two parents and eight children. We evaluated multiple analytical strategies to identify a prioritized list of candidate genes.RESULTS:By assuming a recessive model of inheritance, we identified seven candidate genes shared by the two probands. We also evaluated a different analytical strategy that does not require the assumption of disease model, and identified a list of 59 candidate variants that may increase susceptibility to autism. Manual examination of this list identified ANK3 as the most likely candidate gene. Finally, we identified 33 prioritized non-coding variants such as those near SMG6 and COQ5, based on evolutionary constraint and experimental evidence from ENCODE. Although we were unable to confirm rigorously whether any of these genes indeed contribute to the disease, our analysis provides a prioritized shortlist for further validation studies.CONCLUSIONS:Our study represents one of the first whole-genome sequencing studies in autism leveraging a large family-based pedigree. These results provide for a discussion on the relative merits of finding de-novo mutations in sporadic cases versus finding inherited mutations in large pedigrees, in the context of neuropsychiatric and neurodevelopmental diseases. En ligne : http://dx.doi.org/10.1186/2040-2392-4-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202

Prevalence of autism in mainland China, Hong Kong and Taiwan: a systematic review and meta-analysis / Xiang SUN in Molecular Autism, (April 2013)  

Public ISBD [article]  inMolecular Autism > (April 2013) . - 13 p. Titre : Prevalence of autism in mainland China, Hong Kong and Taiwan: a systematic review and meta-analysis Type de document : Texte imprimé et/ou numérique Auteurs : Xiang SUN, Auteur ; Carrie ALLISON, Auteur ; Fiona E. MATTHEWS, Auteur ; Stephen SHARP, Auteur ; Bonnie AUYEUNG, Auteur ; Simon BARON-COHEN, Auteur ; Carol BRAYNE, Auteur Année de publication : 2013 Article en page(s) : 13 p. Langues : Anglais (eng) Mots-clés : Autism spectrum conditions  Prevalence  Screening  Diagnosis  Chinese population Index. décimale : PER Périodiques Résumé : BACKGROUND:The prevalence of autism spectrum conditions (ASC) is 1% in developed countries, but little data are available from mainland China, Hong Kong and Taiwan. This study synthesizes evidence relating to the prevalence of ASC in these areas and assesses the effects of research methodology on prevalence estimates.METHODS:Systematic literature searches were conducted in PubMed, Web of Knowledge, China Web of Knowledge and Weipu databases, as well as relevant papers published from 1987 to 2011, reporting prevalence estimates of ASC or childhood autism in mainland China, Hong Kong and Taiwan. Summary estimates of prevalence were calculated with a random effects model. The effects of research methodology on the prevalence estimates were assessed using a meta-regression model.RESULTS:There were 25 studies eligible for review, 18 of which were suitable for inclusion in a meta-analysis. Pooled prevalence of childhood autism was 11.8 per 10,000 individuals (95% confidence interval (CI): 8.2, 15.3) in mainland China. Pooled prevalence of ASC was 26.6 per 10,000 (95% CI: 18.5, 34.6) in three areas. Substantial heterogeneity was identified between studies (I275%). The prevalence estimate of childhood autism was most strongly associated with the choice of screening instrument. After adjustment for age group, the odds ratio for prevalence estimates when using the Autism Behavior Checklist (ABC) as the screening instrument compared with those using the Clancy Autism Behavior Scale (CABS) was 0.29 (95% CI: 0.12, 0.69), and 1.79 (95% CI: 0.70, 4.55; P= 0.20) when using the Checklist for Autism in Toddlers (CHAT) compared to the CABS.CONCLUSIONS:The available studies investigating the prevalence of ASC in China, Hong Kong and Taiwan have focused mainly on childhood autism rather than the whole spectrum. The prevalence estimates are lower than estimates from developed countries. Studies using more recently developed screening instruments reported higher prevalence than older ones. However, available studies have methodological weaknesses and therefore these results lack comparability with those from developed countries. Our findings indicate a potential under-diagnosis and under-detection of ASC in mainland China, Hong Kong and Taiwan, and a need to adopt more advanced methods for research of ASC in these areas. En ligne : http://dx.doi.org/10.1186/2040-2392-4-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 [article] Prevalence of autism in mainland China, Hong Kong and Taiwan: a systematic review and meta-analysis [Texte imprimé et/ou numérique] / Xiang SUN, Auteur ; Carrie ALLISON, Auteur ; Fiona E. MATTHEWS, Auteur ; Stephen SHARP, Auteur ; Bonnie AUYEUNG, Auteur ; Simon BARON-COHEN, Auteur ; Carol BRAYNE, Auteur . - 2013 . - 13 p. Langues : Anglais (eng) in Molecular Autism > (April 2013) . - 13 p. Mots-clés : Autism spectrum conditions  Prevalence  Screening  Diagnosis  Chinese population Index. décimale : PER Périodiques Résumé : BACKGROUND:The prevalence of autism spectrum conditions (ASC) is 1% in developed countries, but little data are available from mainland China, Hong Kong and Taiwan. This study synthesizes evidence relating to the prevalence of ASC in these areas and assesses the effects of research methodology on prevalence estimates.METHODS:Systematic literature searches were conducted in PubMed, Web of Knowledge, China Web of Knowledge and Weipu databases, as well as relevant papers published from 1987 to 2011, reporting prevalence estimates of ASC or childhood autism in mainland China, Hong Kong and Taiwan. Summary estimates of prevalence were calculated with a random effects model. The effects of research methodology on the prevalence estimates were assessed using a meta-regression model.RESULTS:There were 25 studies eligible for review, 18 of which were suitable for inclusion in a meta-analysis. Pooled prevalence of childhood autism was 11.8 per 10,000 individuals (95% confidence interval (CI): 8.2, 15.3) in mainland China. Pooled prevalence of ASC was 26.6 per 10,000 (95% CI: 18.5, 34.6) in three areas. Substantial heterogeneity was identified between studies (I275%). The prevalence estimate of childhood autism was most strongly associated with the choice of screening instrument. After adjustment for age group, the odds ratio for prevalence estimates when using the Autism Behavior Checklist (ABC) as the screening instrument compared with those using the Clancy Autism Behavior Scale (CABS) was 0.29 (95% CI: 0.12, 0.69), and 1.79 (95% CI: 0.70, 4.55; P= 0.20) when using the Checklist for Autism in Toddlers (CHAT) compared to the CABS.CONCLUSIONS:The available studies investigating the prevalence of ASC in China, Hong Kong and Taiwan have focused mainly on childhood autism rather than the whole spectrum. The prevalence estimates are lower than estimates from developed countries. Studies using more recently developed screening instruments reported higher prevalence than older ones. However, available studies have methodological weaknesses and therefore these results lack comparability with those from developed countries. Our findings indicate a potential under-diagnosis and under-detection of ASC in mainland China, Hong Kong and Taiwan, and a need to adopt more advanced methods for research of ASC in these areas. En ligne : http://dx.doi.org/10.1186/2040-2392-4-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202