Erratum: A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome / Alexander KOLEVZON in Molecular Autism, (June 2015)  

Public ISBD [article]  inMolecular Autism > (June 2015) . - p.1-1 Titre : Erratum: A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Alexander KOLEVZON, Auteur ; Lauren BUSH, Auteur ; A. Ting WANG, Auteur ; Danielle B. HALPERN, Auteur ; Yitzchak FRANK, Auteur ; David GRODBERG, Auteur ; Robert RAPAPORT, Auteur ; Teresa TAVASSOLI, Auteur ; William CHAPLIN, Auteur ; Latha SOORYA, Auteur ; Joseph D. BUXBAUM, Auteur Article en page(s) : p.1-1 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1186/s13229-015-0025-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Erratum: A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome [Texte imprimé et/ou numérique] / Alexander KOLEVZON, Auteur ; Lauren BUSH, Auteur ; A. Ting WANG, Auteur ; Danielle B. HALPERN, Auteur ; Yitzchak FRANK, Auteur ; David GRODBERG, Auteur ; Robert RAPAPORT, Auteur ; Teresa TAVASSOLI, Auteur ; William CHAPLIN, Auteur ; Latha SOORYA, Auteur ; Joseph D. BUXBAUM, Auteur . - p.1-1. Langues : Anglais (eng) in Molecular Autism > (June 2015) . - p.1-1 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1186/s13229-015-0025-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

Intranasal oxytocin versus placebo in the treatment of adults with autism spectrum disorders: a randomized controlled trial / Evdokia ANAGNOSTOU in Molecular Autism, (December 2012)  

Public ISBD [article]  inMolecular Autism > (December 2012) . - 9 p. Titre : Intranasal oxytocin versus placebo in the treatment of adults with autism spectrum disorders: a randomized controlled trial Type de document : Texte imprimé et/ou numérique Auteurs : Evdokia ANAGNOSTOU, Auteur ; Latha V. SOORYA, Auteur ; William CHAPLIN, Auteur ; Jennifer BARTZ, Auteur ; Danielle B. HALPERN, Auteur ; Stacey WASSERMAN, Auteur ; A. Ting WANG, Auteur ; Lauren PEPA, Auteur ; Nadia TANEL, Auteur ; Azadeh KUSHKI, Auteur ; Eric HOLLANDER, Auteur Année de publication : 2012 Article en page(s) : 9 p. Langues : Anglais (eng) Mots-clés : Autism  Adults  Oxytocin  Clinical trial  Social cognition Index. décimale : PER Périodiques Résumé : BACKGROUND:There are no effective medications for the treatment of social cognition/function deficits in autism spectrum disorder (ASD), and adult intervention literature in this area is sparse. Emerging data from animal models and genetic association studies as well as early, single-dose intervention studies suggest that the oxytocin system may be a potential therapeutic target for social cognition/function deficits in ASD. The primary aim of this study was to examine the safety/therapeutic effects of intranasal oxytocin versus placebo in adults with ASD, with respect to the two core symptom domains of social cognition/functioning and repetitive behaviors.METHODS:This was a pilot, randomized, double-blind, placebo-controlled, parallel design trial of intranasal oxytocin versus placebo in 19 adults with ASD (16 males; 33.20 +/- 13.29 years). Subjects were randomized to 24 IU intranasal oxytocin or placebo in the morning and afternoon for 6 weeks. Measures of social function/cognition (the Diagnostic Analysis of Nonverbal Accuracy) and repetitive behaviors (Repetitive Behavior Scale Revised) were administered. Secondary measures included the Social Responsiveness Scale, Reading-the-Mind-in-the-Eyes Test and the Yale Brown Obsessive Compulsive Scale - compulsion subscale and quality of life (World Health Organization Quality of Life Questionnaire - emotional/social subscales). Full-information maximum-likelihood parameter estimates were obtained and tested using mixed-effects regression analyses.RESULTS:Although no significant changes were detected in the primary outcome measures after correcting for baseline differences, results suggested improvements after 6 weeks in measures of social cognition (Reading-the-Mind-in-the-Eyes Test, p = 0.002, d = 1.2), and quality of life (World Health Organization Quality of Life Questionnaire - emotion, p = 0.031, d = 0.84), both secondary measures. Oxytocin was well tolerated and no serious adverse effects were reported.CONCLUSIONS:This pilot study suggests that there is therapeutic potential to daily administration of intranasal oxytocin in adults with ASD and that larger and longer studies are warranted.TRIAL REGISTRATION:NCT00490802 En ligne : http://dx.doi.org/10.1186/2040-2392-3-16 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 [article] Intranasal oxytocin versus placebo in the treatment of adults with autism spectrum disorders: a randomized controlled trial [Texte imprimé et/ou numérique] / Evdokia ANAGNOSTOU, Auteur ; Latha V. SOORYA, Auteur ; William CHAPLIN, Auteur ; Jennifer BARTZ, Auteur ; Danielle B. HALPERN, Auteur ; Stacey WASSERMAN, Auteur ; A. Ting WANG, Auteur ; Lauren PEPA, Auteur ; Nadia TANEL, Auteur ; Azadeh KUSHKI, Auteur ; Eric HOLLANDER, Auteur . - 2012 . - 9 p. Langues : Anglais (eng) in Molecular Autism > (December 2012) . - 9 p. Mots-clés : Autism  Adults  Oxytocin  Clinical trial  Social cognition Index. décimale : PER Périodiques Résumé : BACKGROUND:There are no effective medications for the treatment of social cognition/function deficits in autism spectrum disorder (ASD), and adult intervention literature in this area is sparse. Emerging data from animal models and genetic association studies as well as early, single-dose intervention studies suggest that the oxytocin system may be a potential therapeutic target for social cognition/function deficits in ASD. The primary aim of this study was to examine the safety/therapeutic effects of intranasal oxytocin versus placebo in adults with ASD, with respect to the two core symptom domains of social cognition/functioning and repetitive behaviors.METHODS:This was a pilot, randomized, double-blind, placebo-controlled, parallel design trial of intranasal oxytocin versus placebo in 19 adults with ASD (16 males; 33.20 +/- 13.29 years). Subjects were randomized to 24 IU intranasal oxytocin or placebo in the morning and afternoon for 6 weeks. Measures of social function/cognition (the Diagnostic Analysis of Nonverbal Accuracy) and repetitive behaviors (Repetitive Behavior Scale Revised) were administered. Secondary measures included the Social Responsiveness Scale, Reading-the-Mind-in-the-Eyes Test and the Yale Brown Obsessive Compulsive Scale - compulsion subscale and quality of life (World Health Organization Quality of Life Questionnaire - emotional/social subscales). Full-information maximum-likelihood parameter estimates were obtained and tested using mixed-effects regression analyses.RESULTS:Although no significant changes were detected in the primary outcome measures after correcting for baseline differences, results suggested improvements after 6 weeks in measures of social cognition (Reading-the-Mind-in-the-Eyes Test, p = 0.002, d = 1.2), and quality of life (World Health Organization Quality of Life Questionnaire - emotion, p = 0.031, d = 0.84), both secondary measures. Oxytocin was well tolerated and no serious adverse effects were reported.CONCLUSIONS:This pilot study suggests that there is therapeutic potential to daily administration of intranasal oxytocin in adults with ASD and that larger and longer studies are warranted.TRIAL REGISTRATION:NCT00490802 En ligne : http://dx.doi.org/10.1186/2040-2392-3-16 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202

A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome / Alexander KOLEVZON in Molecular Autism, (December 2014)  

Public ISBD [article]  inMolecular Autism > (December 2014) . - p.1-9 Titre : A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Alexander KOLEVZON, Auteur ; Lauren BUSH, Auteur ; A. Ting WANG, Auteur ; Danielle B. HALPERN, Auteur ; Yitzchak FRANK, Auteur ; David GRODBERG, Auteur ; Robert RAPAPORT, Auteur ; Teresa TAVASSOLI, Auteur ; William CHAPLIN, Auteur ; Latha SOORYA, Auteur ; Joseph D. BUXBAUM, Auteur Article en page(s) : p.1-9 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is now understood to have multiple genetic risk genes and one example is SHANK3. SHANK3 deletions and mutations disrupt synaptic function and result in Phelan-McDermid syndrome (PMS), which causes a monogenic form of ASD with a frequency of at least 0.5% of ASD cases. Recent evidence from preclinical studies with mouse and human neuronal models of SHANK3 deficiency suggest that insulin-like growth factor-1 (IGF-1) can reverse synaptic plasticity and motor learning deficits. The objective of this study was to pilot IGF-1 treatment in children with PMS to evaluate safety, tolerability, and efficacy for core deficits of ASD, including social impairment and restricted and repetitive behaviors. En ligne : http://dx.doi.org/10.1186/2040-2392-5-54 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome [Texte imprimé et/ou numérique] / Alexander KOLEVZON, Auteur ; Lauren BUSH, Auteur ; A. Ting WANG, Auteur ; Danielle B. HALPERN, Auteur ; Yitzchak FRANK, Auteur ; David GRODBERG, Auteur ; Robert RAPAPORT, Auteur ; Teresa TAVASSOLI, Auteur ; William CHAPLIN, Auteur ; Latha SOORYA, Auteur ; Joseph D. BUXBAUM, Auteur . - p.1-9. Langues : Anglais (eng) in Molecular Autism > (December 2014) . - p.1-9 Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is now understood to have multiple genetic risk genes and one example is SHANK3. SHANK3 deletions and mutations disrupt synaptic function and result in Phelan-McDermid syndrome (PMS), which causes a monogenic form of ASD with a frequency of at least 0.5% of ASD cases. Recent evidence from preclinical studies with mouse and human neuronal models of SHANK3 deficiency suggest that insulin-like growth factor-1 (IGF-1) can reverse synaptic plasticity and motor learning deficits. The objective of this study was to pilot IGF-1 treatment in children with PMS to evaluate safety, tolerability, and efficacy for core deficits of ASD, including social impairment and restricted and repetitive behaviors. En ligne : http://dx.doi.org/10.1186/2040-2392-5-54 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

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 et/ou numérique Auteurs : Latha V. SOORYA, Auteur ; Alexander KOLEVZON, Auteur ; Jessica ZWEIFACH, Auteur ; Teresa LIM, Auteur ; Yuriy DOBRY, Auteur ; Lily SCHWARTZ, Auteur ; Yitzchak FRANK, Auteur ; A. 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 et/ou numérique] / Latha V. SOORYA, Auteur ; Alexander KOLEVZON, Auteur ; Jessica ZWEIFACH, Auteur ; Teresa LIM, Auteur ; Yuriy DOBRY, Auteur ; Lily SCHWARTZ, Auteur ; Yitzchak FRANK, Auteur ; A. 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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