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Auteur Yitzchak FRANK
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Documents disponibles écrits par cet auteur (17)
Faire une suggestion Affiner la rechercheClinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome / Alexander KOLEVZON in Molecular Autism, 13 (2022)
Titre : Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome Type de document : texte imprimé Auteurs : Alexander KOLEVZON, Auteur ; Michael S. BREEN, Auteur ; Paige M. SIPER, Auteur ; Danielle B. HALPERN, Auteur ; Yitzchak FRANK, Auteur ; H. RIEGER, Auteur ; J. WEISMANN, Auteur ; Maria Del Pilar TRELLES, Auteur ; Bonnie LERMAN, Auteur ; Robert RAPAPORT, Auteur ; Joseph D. BUXBAUM, Auteur Article en page(s) : 17 p. Langues : Anglais (eng) Mots-clés : Child Chromosome Deletion Chromosome Disorders/drug therapy/genetics Chromosomes, Human, Pair 22 Humans Insulin-Like Growth Factor I/therapeutic use Pilot Projects Asd Autism spectrum disorder Igf-1 Insulin-like growth factor-1 Pms Phelan-McDermid syndrome shank3 Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is caused by haploinsufficiency of the SHANK3 gene and is characterized by global developmental delays and autism spectrum disorder (ASD). Based on several converging lines of preclinical and clinical evidence supporting the use of insulin-like growth factor-1 (IGF-1) in PMS, this study aims to follow-up a previous pilot study with IGF-1 to further evaluate this novel therapeutic for core symptoms of ASD in children with PMS. METHODS: Ten children aged 5-9 with PMS were enrolled. Participants were randomized to receive IGF-1 or placebo (saline) using a 12-week, double-blind, crossover design. Efficacy was assessed using the primary outcome of the Aberrant Behavior Checklist-Social Withdrawal (ABC-SW) subscale as well as secondary outcome measures reflecting core symptoms of ASD. To increase power and sample size, we jointly analyzed the effect of IGF-1 reported here together with results from our previous controlled trail of IGF-1 in children with PMS (combined N=19). RESULTS: Results on the ABC-SW did not reach statistical significance, however significant improvements in sensory reactivity symptoms were observed. In our pooled analyses, IGF-1 treatment also led to significant improvements in repetitive behaviors and hyperactivity. There were no other statistically significant effects seen across other clinical outcome measures. IGF-1 was well tolerated and there were no serious adverse events. LIMITATIONS: The small sample size and expectancy bias due to relying on parent reported outcome measures may contribute to limitations in interpreting results. CONCLUSION: IGF-1 is efficacious in improving sensory reactivity symptoms, repetitive behaviors, and hyperactivity in children with PMS. Trial registration NCT01525901. En ligne : http://dx.doi.org/10.1186/s13229-022-00493-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477
in Molecular Autism > 13 (2022) . - 17 p.[article] Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome [texte imprimé] / Alexander KOLEVZON, Auteur ; Michael S. BREEN, Auteur ; Paige M. SIPER, Auteur ; Danielle B. HALPERN, Auteur ; Yitzchak FRANK, Auteur ; H. RIEGER, Auteur ; J. WEISMANN, Auteur ; Maria Del Pilar TRELLES, Auteur ; Bonnie LERMAN, Auteur ; Robert RAPAPORT, Auteur ; Joseph D. BUXBAUM, Auteur . - 17 p.
Langues : Anglais (eng)
in Molecular Autism > 13 (2022) . - 17 p.
Mots-clés : Child Chromosome Deletion Chromosome Disorders/drug therapy/genetics Chromosomes, Human, Pair 22 Humans Insulin-Like Growth Factor I/therapeutic use Pilot Projects Asd Autism spectrum disorder Igf-1 Insulin-like growth factor-1 Pms Phelan-McDermid syndrome shank3 Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is caused by haploinsufficiency of the SHANK3 gene and is characterized by global developmental delays and autism spectrum disorder (ASD). Based on several converging lines of preclinical and clinical evidence supporting the use of insulin-like growth factor-1 (IGF-1) in PMS, this study aims to follow-up a previous pilot study with IGF-1 to further evaluate this novel therapeutic for core symptoms of ASD in children with PMS. METHODS: Ten children aged 5-9 with PMS were enrolled. Participants were randomized to receive IGF-1 or placebo (saline) using a 12-week, double-blind, crossover design. Efficacy was assessed using the primary outcome of the Aberrant Behavior Checklist-Social Withdrawal (ABC-SW) subscale as well as secondary outcome measures reflecting core symptoms of ASD. To increase power and sample size, we jointly analyzed the effect of IGF-1 reported here together with results from our previous controlled trail of IGF-1 in children with PMS (combined N=19). RESULTS: Results on the ABC-SW did not reach statistical significance, however significant improvements in sensory reactivity symptoms were observed. In our pooled analyses, IGF-1 treatment also led to significant improvements in repetitive behaviors and hyperactivity. There were no other statistically significant effects seen across other clinical outcome measures. IGF-1 was well tolerated and there were no serious adverse events. LIMITATIONS: The small sample size and expectancy bias due to relying on parent reported outcome measures may contribute to limitations in interpreting results. CONCLUSION: IGF-1 is efficacious in improving sensory reactivity symptoms, repetitive behaviors, and hyperactivity in children with PMS. Trial registration NCT01525901. En ligne : http://dx.doi.org/10.1186/s13229-022-00493-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477 Cognitive and Behavioral Abnormalities Associated with Liver Disease and Wilson Disease / Yitzchak FRANK
Titre : Cognitive and Behavioral Abnormalities Associated with Liver Disease and Wilson Disease Type de document : texte imprimé Auteurs : Yitzchak FRANK, Auteur Année de publication : 2010 Importance : p.138-156 Langues : Anglais (eng) Index. décimale : TRO-F TRO-F - Autres Troubles Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=239 Cognitive and Behavioral Abnormalities Associated with Liver Disease and Wilson Disease [texte imprimé] / Yitzchak FRANK, Auteur . - 2010 . - p.138-156.
Langues : Anglais (eng)
Index. décimale : TRO-F TRO-F - Autres Troubles Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=239 Exemplaires(0)
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Titre : Cognitive and Behavioral Abnormalities of Pediatric Diseases Type de document : texte imprimé Auteurs : Ruth D. NASS, Directeur de publication ; Yitzchak FRANK, Directeur de publication Editeur : Oxford [Angleterre] : Oxford University Press Année de publication : 2010 Importance : 673 p. Présentation : ill. Format : 22cm x 28,5cm x 4cm ISBN/ISSN/EAN : 978-0-19-534268-0 Note générale : Bibliogr., Index Langues : Anglais (eng) Mots-clés : Syndrome de Smith-Magenis Syndrome de Noonan Syndrome de Klinefelter Syndrome de Turner Syndrome vélo-cardio-facial Maladie de Lyme Neurofibromatose de type 1 Métaux Lourds Syndrome d'alcoolisation foetale Index. décimale : TRO-F TRO-F - Autres Troubles Résumé : Cognitive and Behavioral Abnormalities of Pediatric Diseases discusses the entire range of pediatric diseases and the different kinds of cognitive and behavioral problems associated with each one. Co-edited by two experts in behavioral neurology with contributions by leaders in their specialty fields, the book provides neurologists, pediatricians, neuropsychologists, psychiatrists, psychologists, and speech-language, physical and occupational therapists with a timely, comprehensive, and up-to-date resource. [Résumé d'Auteur/Editeur] Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=239 Cognitive and Behavioral Abnormalities of Pediatric Diseases [texte imprimé] / Ruth D. NASS, Directeur de publication ; Yitzchak FRANK, Directeur de publication . - Oxford [Angleterre] : Oxford University Press, 2010 . - 673 p. : ill. ; 22cm x 28,5cm x 4cm.
ISBN : 978-0-19-534268-0
Bibliogr., Index
Langues : Anglais (eng)
Mots-clés : Syndrome de Smith-Magenis Syndrome de Noonan Syndrome de Klinefelter Syndrome de Turner Syndrome vélo-cardio-facial Maladie de Lyme Neurofibromatose de type 1 Métaux Lourds Syndrome d'alcoolisation foetale Index. décimale : TRO-F TRO-F - Autres Troubles Résumé : Cognitive and Behavioral Abnormalities of Pediatric Diseases discusses the entire range of pediatric diseases and the different kinds of cognitive and behavioral problems associated with each one. Co-edited by two experts in behavioral neurology with contributions by leaders in their specialty fields, the book provides neurologists, pediatricians, neuropsychologists, psychiatrists, psychologists, and speech-language, physical and occupational therapists with a timely, comprehensive, and up-to-date resource. [Résumé d'Auteur/Editeur] Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=239
- General effects of pediatric diseases on cognition and behavior / Mari HYSING
- Double syndromes: Autism associated with genetic, medical and metabolic disorders / Christopher GILLBERG
- Cognitive and Psychiatric Manifestations of Childhood-Onset Systemic Lupus Erythematotus / Deborah M. LEVY
- The impact of congenital heart disease on cognitive and behavioral functioning / Jo WRAY
- Short Stature and the Relationship to Male Mental Health Status / Elsie MOBBS
- Psychological Effects of Precocious and Delayed Puberty / Laura M. DEROSE
- Addison's Disease / Michael F. MAZUREK
- Cognitive and Behavioral Aspect of Congenital Adrenal Hyperplasia / Sheri A. BERENBAUM
- Type 1 Diabetes / Tamara HERSHEY
- Cognitive and Behavioral Complications of Congenital Hypothyroidism / Ruth D. NASS
- Prader-Willi Syndrome / Jennifer ZARCONE
- Cognitive and Behavioral Manifestations of Celiac Disease / Helmut NIEDERHOFER
- Cognitive and Behavioral Abnormalities Associated with Liver Disease and Wilson Disease / Yitzchak FRANK
- Down Syndrome / Stephen R. HOOPER
- Fragile X: A Family of Disorders / Ann M. MASTERGEORGE
- Klinefelter Syndrome / Christine M. TEMPLE
- Noonan Syndrome / Ellen WINGBERMUHLE
- Congenital Infections / Yushiro YAMASHITA
- Neurologic Aspects of the Smith-Magenis Syndrome / Andrea L. GROPMAN
- Cognitive and Behavioral Manifestations in Turner Syndrome / Aysenil BELGER
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Code-barres Cote Support Localisation Section Disponibilité DOC0002924 TRO-F NAS Livre Centre d'Information et de Documentation du CRA Rhône-Alpes TRO - Autres Troubles Disponible
Titre : Cognitive and Behavioral Manifestations of Celiac Disease Type de document : texte imprimé Auteurs : Helmut NIEDERHOFER, Auteur ; Klaus PITTSCHIELER, Auteur ; Yitzchak FRANK, Auteur Année de publication : 2010 Importance : p.131-137 Langues : Anglais (eng) Index. décimale : TRO-F TRO-F - Autres Troubles Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=239 Cognitive and Behavioral Manifestations of Celiac Disease [texte imprimé] / Helmut NIEDERHOFER, Auteur ; Klaus PITTSCHIELER, Auteur ; Yitzchak FRANK, Auteur . - 2010 . - p.131-137.
Langues : Anglais (eng)
Index. décimale : TRO-F TRO-F - Autres Troubles Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=239 Exemplaires(0)
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Titre : Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations Type de document : texte imprimé Auteurs : Silvia DE RUBEIS, Auteur ; Paige M. SIPER, Auteur ; Allison DURKIN, Auteur ; Jordana WEISSMAN, Auteur ; François MURATET, Auteur ; Danielle B. HALPERN, Auteur ; Maria Del Pilar TRELLES, Auteur ; Yitzchak FRANK, Auteur ; Reymundo LOZANO, Auteur ; A. Ting WANG, Auteur ; J. Lloyd HOLDER, Auteur ; Catalina BETANCUR, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur Article en page(s) : 31p. Langues : Anglais (eng) Mots-clés : Adolescent Adult Child Child, Preschool Chromosome Deletion Chromosome Disorders/genetics/pathology Chromosomes, Human, Pair 22/genetics Female Haploinsufficiency Humans Male Nerve Tissue Proteins/genetics Phenotype Point Mutation 22q13 deletion syndrome Autism spectrum disorder Intellectual disability Phelan-McDermid syndrome shank3 Sequence variants Index. décimale : PER Périodiques Résumé : Background: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused by 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing many other genes. While the number of point mutations identified in SHANK3 has increased in recent years due to large-scale sequencing studies, systematic studies describing the phenotype of individuals harboring such mutations are lacking. Methods: We provide detailed clinical and genetic data on 17 individuals carrying mutations in SHANK3. We also review 60 previously reported patients with pathogenic or likely pathogenic SHANK3 variants, often lacking detailed phenotypic information. Results: SHANK3 mutations in our cohort and in previously reported cases were distributed throughout the protein; the majority were truncating and all were compatible with de novo inheritance. Despite substantial allelic heterogeneity, four variants were recurrent (p.Leu1142Valfs*153, p.Ala1227Glyfs*69, p.Arg1255Leufs*25, and c.2265+1G>A), suggesting that these are hotspots for de novo mutations. All individuals studied had intellectual disability, and autism spectrum disorder was prevalent (73%). Severe speech deficits were common, but in contrast to individuals with 22q13.3 deletions, the majority developed single words, including 41% with at least phrase speech. Other common findings were consistent with reports among individuals with 22q13.3 deletions, including hypotonia, motor skill deficits, regression, seizures, brain abnormalities, mild dysmorphic features, and feeding and gastrointestinal problems. Conclusions: Haploinsufficiency of SHANK3 resulting from point mutations is sufficient to cause a broad range of features associated with PMS. Our findings expand the molecular and phenotypic spectrum of PMS caused by SHANK3 point mutations and suggest that, in general, speech impairment and motor deficits are more severe in the case of deletions. In contrast, renal abnormalities associated with 22q13.3 deletions do not appear to be related to the loss of SHANK3. En ligne : https://dx.doi.org/10.1186/s13229-018-0205-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371
in Molecular Autism > 9 (2018) . - 31p.[article] Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations [texte imprimé] / Silvia DE RUBEIS, Auteur ; Paige M. SIPER, Auteur ; Allison DURKIN, Auteur ; Jordana WEISSMAN, Auteur ; François MURATET, Auteur ; Danielle B. HALPERN, Auteur ; Maria Del Pilar TRELLES, Auteur ; Yitzchak FRANK, Auteur ; Reymundo LOZANO, Auteur ; A. Ting WANG, Auteur ; J. Lloyd HOLDER, Auteur ; Catalina BETANCUR, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur . - 31p.
Langues : Anglais (eng)
in Molecular Autism > 9 (2018) . - 31p.
Mots-clés : Adolescent Adult Child Child, Preschool Chromosome Deletion Chromosome Disorders/genetics/pathology Chromosomes, Human, Pair 22/genetics Female Haploinsufficiency Humans Male Nerve Tissue Proteins/genetics Phenotype Point Mutation 22q13 deletion syndrome Autism spectrum disorder Intellectual disability Phelan-McDermid syndrome shank3 Sequence variants Index. décimale : PER Périodiques Résumé : Background: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused by 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing many other genes. While the number of point mutations identified in SHANK3 has increased in recent years due to large-scale sequencing studies, systematic studies describing the phenotype of individuals harboring such mutations are lacking. Methods: We provide detailed clinical and genetic data on 17 individuals carrying mutations in SHANK3. We also review 60 previously reported patients with pathogenic or likely pathogenic SHANK3 variants, often lacking detailed phenotypic information. Results: SHANK3 mutations in our cohort and in previously reported cases were distributed throughout the protein; the majority were truncating and all were compatible with de novo inheritance. Despite substantial allelic heterogeneity, four variants were recurrent (p.Leu1142Valfs*153, p.Ala1227Glyfs*69, p.Arg1255Leufs*25, and c.2265+1G>A), suggesting that these are hotspots for de novo mutations. All individuals studied had intellectual disability, and autism spectrum disorder was prevalent (73%). Severe speech deficits were common, but in contrast to individuals with 22q13.3 deletions, the majority developed single words, including 41% with at least phrase speech. Other common findings were consistent with reports among individuals with 22q13.3 deletions, including hypotonia, motor skill deficits, regression, seizures, brain abnormalities, mild dysmorphic features, and feeding and gastrointestinal problems. Conclusions: Haploinsufficiency of SHANK3 resulting from point mutations is sufficient to cause a broad range of features associated with PMS. Our findings expand the molecular and phenotypic spectrum of PMS caused by SHANK3 point mutations and suggest that, in general, speech impairment and motor deficits are more severe in the case of deletions. In contrast, renal abnormalities associated with 22q13.3 deletions do not appear to be related to the loss of SHANK3. En ligne : https://dx.doi.org/10.1186/s13229-018-0205-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371
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