Assessing the utility of electronic measures as a proxy for cognitive ability / Tess LEVY in Autism Research, 15-6 (June 2022)  

Public ISBD [article]  inAutism Research > 15-6 (June 2022) . - p.988-995 Titre : Assessing the utility of electronic measures as a proxy for cognitive ability Type de document : texte imprimé Auteurs : Tess LEVY, Auteur ; Bari BRITVAN, Auteur ; Hannah E. GROSMAN, Auteur ; Ivy GISERMAN-KISS, Auteur ; Kristin MEYERING, Auteur ; Jordana WEISSMAN, Auteur ; Danielle B. HALPERN, Auteur ; Jessica ZWEIFACH, Auteur ; M. Pilar TRELLES, Auteur ; Jennifer H. FOSS-FEIG, Auteur ; Alexander KOLEVZON, Auteur ; Stephan J. SANDERS, Auteur ; Elise B. ROBINSON, Auteur ; Joseph D. BUXBAUM, Auteur ; Somer L. BISHOP, Auteur ; Paige M. SIPER, Auteur Article en page(s) : p.988-995 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract Large-scale genomic studies have identified over 100 genes associated with autism spectrum disorder (ASD); however, important phenotypic variables are captured inconsistently. In many cases, the resources required for comprehensive characterization hinder the feasibility of collecting critical information, such as intellectual ability. Thus, electronic collection of important phenotypes would greatly facilitate large-scale data collection efforts. This study assessed the utility of two electronic assessments as a proxy of cognitive ability relative to clinician-administered cognitive assessments. Ninety-two participants completed the study, including individuals with ASD (probands, n = 19), parents of probands (n = 46), and siblings without ASD (n = 27). Participants were administered the electronic-Peabody Picture Vocabulary Test, Fourth Edition (e-PPVT-4), an electronic visual reasoning (VR) test, and a clinician-administered Wechsler Abbreviated Scales of Intelligence, Second Edition (WASI-II). Probands also completed a full, in-person, cognitive assessment and Vineland Adaptive Behavior Scales, 2nd Edition. Correlations between scores on electronic and clinician-administered measures were examined. Classification accuracy of individual scores based on 95% confidence intervals and score range (below average, average, above average) were also assessed. Moderate to strong correlations were identified between both electronic measures and the clinician-administered WASI-II (? = 0.606 0.712). Mean difference between standard scores ranged from 10.7 to 14.8 for the cohort. Classification accuracy based on WASI-II 95% confidence interval was consistently low (27.5% 47.3%). Classification accuracy by score range (below average, average, above average) was variable, ranging from 33% to 86% for probands. All participants unable to complete the electronic assessments met DSM-5 criteria for intellectual disability. e-PPVT-4 and VR scores were strongly correlated with scores on the WASI-II full-scale IQ (? = 0.630, 0.712), indicating utility of these measures at the group level in large-scale genomic studies. However, the poor precision of measurement across both measures suggests that the e-PPVT-4 and VR are not useful alternatives to in-person testing for the purpose of clinical assessment of an individual's IQ score. Lay Summary Large-scale studies designed to identify genes associated with autism have been successful in identifying over 100 genes. However, important clinical information about participants with autism and their family members is often missed?including cognitive functioning. Cognitive testing requires in-person administration by a trained clinician and therefore can be burdensome and often reduces feasibility of diverse samples. Here, we assessed whether electronic assessments could take the place of in-person cognitive testing. We found that at the group level, for large-scale studies, electronic measures added valuable information; however, they were not accurate enough to be used on an individual level (i.e., to offer feedback about an individual's predicted IQ score). En ligne : https://doi.org/10.1002/aur.2704 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476 [article] Assessing the utility of electronic measures as a proxy for cognitive ability [texte imprimé] / Tess LEVY, Auteur ; Bari BRITVAN, Auteur ; Hannah E. GROSMAN, Auteur ; Ivy GISERMAN-KISS, Auteur ; Kristin MEYERING, Auteur ; Jordana WEISSMAN, Auteur ; Danielle B. HALPERN, Auteur ; Jessica ZWEIFACH, Auteur ; M. Pilar TRELLES, Auteur ; Jennifer H. FOSS-FEIG, Auteur ; Alexander KOLEVZON, Auteur ; Stephan J. SANDERS, Auteur ; Elise B. ROBINSON, Auteur ; Joseph D. BUXBAUM, Auteur ; Somer L. BISHOP, Auteur ; Paige M. SIPER, Auteur . - p.988-995. Langues : Anglais (eng) in Autism Research > 15-6 (June 2022) . - p.988-995 Index. décimale : PER Périodiques Résumé : Abstract Large-scale genomic studies have identified over 100 genes associated with autism spectrum disorder (ASD); however, important phenotypic variables are captured inconsistently. In many cases, the resources required for comprehensive characterization hinder the feasibility of collecting critical information, such as intellectual ability. Thus, electronic collection of important phenotypes would greatly facilitate large-scale data collection efforts. This study assessed the utility of two electronic assessments as a proxy of cognitive ability relative to clinician-administered cognitive assessments. Ninety-two participants completed the study, including individuals with ASD (probands, n = 19), parents of probands (n = 46), and siblings without ASD (n = 27). Participants were administered the electronic-Peabody Picture Vocabulary Test, Fourth Edition (e-PPVT-4), an electronic visual reasoning (VR) test, and a clinician-administered Wechsler Abbreviated Scales of Intelligence, Second Edition (WASI-II). Probands also completed a full, in-person, cognitive assessment and Vineland Adaptive Behavior Scales, 2nd Edition. Correlations between scores on electronic and clinician-administered measures were examined. Classification accuracy of individual scores based on 95% confidence intervals and score range (below average, average, above average) were also assessed. Moderate to strong correlations were identified between both electronic measures and the clinician-administered WASI-II (? = 0.606 0.712). Mean difference between standard scores ranged from 10.7 to 14.8 for the cohort. Classification accuracy based on WASI-II 95% confidence interval was consistently low (27.5% 47.3%). Classification accuracy by score range (below average, average, above average) was variable, ranging from 33% to 86% for probands. All participants unable to complete the electronic assessments met DSM-5 criteria for intellectual disability. e-PPVT-4 and VR scores were strongly correlated with scores on the WASI-II full-scale IQ (? = 0.630, 0.712), indicating utility of these measures at the group level in large-scale genomic studies. However, the poor precision of measurement across both measures suggests that the e-PPVT-4 and VR are not useful alternatives to in-person testing for the purpose of clinical assessment of an individual's IQ score. Lay Summary Large-scale studies designed to identify genes associated with autism have been successful in identifying over 100 genes. However, important clinical information about participants with autism and their family members is often missed?including cognitive functioning. Cognitive testing requires in-person administration by a trained clinician and therefore can be burdensome and often reduces feasibility of diverse samples. Here, we assessed whether electronic assessments could take the place of in-person cognitive testing. We found that at the group level, for large-scale studies, electronic measures added valuable information; however, they were not accurate enough to be used on an individual level (i.e., to offer feedback about an individual's predicted IQ score). En ligne : https://doi.org/10.1002/aur.2704 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476

Brief Report: Assessment of a Caregiver-Implemented Intervention for Improving Social Communication Skills in Toddlers and Young Children with Autism / Christine HONSBERGER ; Nathaniel A. SHANOK ; Erin Brooker LOZOTT ; Tess LEVY ; Alexander KOLEVZON ; Joseph D. BUXBAUM ; Marlene SOTELO ; Jennifer H. FOSS-FEIG ; Paige M. SIPER in Journal of Autism and Developmental Disorders, 54-2 (February 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-2 (February 2024) . - p.794-802 Titre : Brief Report: Assessment of a Caregiver-Implemented Intervention for Improving Social Communication Skills in Toddlers and Young Children with Autism Type de document : texte imprimé Auteurs : Christine HONSBERGER, Auteur ; Nathaniel A. SHANOK, Auteur ; Erin Brooker LOZOTT, Auteur ; Tess LEVY, Auteur ; Alexander KOLEVZON, Auteur ; Joseph D. BUXBAUM, Auteur ; Marlene SOTELO, Auteur ; Jennifer H. FOSS-FEIG, Auteur ; Paige M. SIPER, Auteur Article en page(s) : p.794-802 Index. décimale : PER Périodiques Résumé : As early identification of autism improves, there is a critical need for interventions to support the development of social communication skills in toddlers. Caregiver coaching and parental involvement is crucial for improving outcomes and providing children with adequate hours of planned active engagement. This pilot study assessed a 4-week intervention for individual caregiver?child dyads. Eight toddlers 21- to 45-months of age participated. Standardized assessments were collected at four study visits to assess autism symptomatology, language development, and both caregiver knowledge and engagement. Results demonstrated the feasibility of the intervention. Social communication, receptive and expressive language all improved as measured by direct assessment. Caregiver knowledge and caregivers? subjective feelings of engagement with their toddlers also improved. En ligne : https://doi.org/10.1007/s10803-022-05587-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520 [article] Brief Report: Assessment of a Caregiver-Implemented Intervention for Improving Social Communication Skills in Toddlers and Young Children with Autism [texte imprimé] / Christine HONSBERGER, Auteur ; Nathaniel A. SHANOK, Auteur ; Erin Brooker LOZOTT, Auteur ; Tess LEVY, Auteur ; Alexander KOLEVZON, Auteur ; Joseph D. BUXBAUM, Auteur ; Marlene SOTELO, Auteur ; Jennifer H. FOSS-FEIG, Auteur ; Paige M. SIPER, Auteur . - p.794-802. in Journal of Autism and Developmental Disorders > 54-2 (February 2024) . - p.794-802 Index. décimale : PER Périodiques Résumé : As early identification of autism improves, there is a critical need for interventions to support the development of social communication skills in toddlers. Caregiver coaching and parental involvement is crucial for improving outcomes and providing children with adequate hours of planned active engagement. This pilot study assessed a 4-week intervention for individual caregiver?child dyads. Eight toddlers 21- to 45-months of age participated. Standardized assessments were collected at four study visits to assess autism symptomatology, language development, and both caregiver knowledge and engagement. Results demonstrated the feasibility of the intervention. Social communication, receptive and expressive language all improved as measured by direct assessment. Caregiver knowledge and caregivers? subjective feelings of engagement with their toddlers also improved. En ligne : https://doi.org/10.1007/s10803-022-05587-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520

Brief Report: Sensory Reactivity in Children with Phelan–McDermid Syndrome / A.M. MIESES in Journal of Autism and Developmental Disorders, 46-7 (July 2016)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 46-7 (July 2016) . - p.2508-2513 Titre : Brief Report: Sensory Reactivity in Children with Phelan–McDermid Syndrome Type de document : texte imprimé Auteurs : A.M. MIESES, Auteur ; Teresa TAVASSOLI, Auteur ; Erin LI, Auteur ; Latha SOORYA, Auteur ; Stacey LURIE, Auteur ; A. Ting WANG, Auteur ; Paige M. SIPER, Auteur ; Alexander KOLEVZON, Auteur Article en page(s) : p.2508-2513 Langues : Anglais (eng) Mots-clés : Phelan–McDermid syndrome  22q13 deletion syndrome  Autism  Autism spectrum disorder  Sensory reactivity  Sensory profile Index. décimale : PER Périodiques Résumé : Phelan–McDermid syndrome (PMS), a monogenic form of autism spectrum disorder (ASD), results from deletion or mutation of the SHANK3 gene. Atypical sensory reactivity is now included in the diagnostic criteria for ASD. Examining the sensory phenotype in monogenic forms of ASD, such as PMS, may help identify underlying mechanisms of sensory reactivity. Using the Short Sensory Profile, the current study compared sensory reactivity in 24 children with PMS to 61 children with idiopathic ASD (iASD). Results suggest that children with PMS show more low energy/weak symptoms and less sensory sensitivity as compared to children with iASD. This study is the first to demonstrate differences in sensory reactivity between children with PMS and iASD, helping to refine the PMS phenotype. En ligne : http://dx.doi.org/10.1007/s10803-016-2754-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=290 [article] Brief Report: Sensory Reactivity in Children with Phelan–McDermid Syndrome [texte imprimé] / A.M. MIESES, Auteur ; Teresa TAVASSOLI, Auteur ; Erin LI, Auteur ; Latha SOORYA, Auteur ; Stacey LURIE, Auteur ; A. Ting WANG, Auteur ; Paige M. SIPER, Auteur ; Alexander KOLEVZON, Auteur . - p.2508-2513. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 46-7 (July 2016) . - p.2508-2513 Mots-clés : Phelan–McDermid syndrome  22q13 deletion syndrome  Autism  Autism spectrum disorder  Sensory reactivity  Sensory profile Index. décimale : PER Périodiques Résumé : Phelan–McDermid syndrome (PMS), a monogenic form of autism spectrum disorder (ASD), results from deletion or mutation of the SHANK3 gene. Atypical sensory reactivity is now included in the diagnostic criteria for ASD. Examining the sensory phenotype in monogenic forms of ASD, such as PMS, may help identify underlying mechanisms of sensory reactivity. Using the Short Sensory Profile, the current study compared sensory reactivity in 24 children with PMS to 61 children with idiopathic ASD (iASD). Results suggest that children with PMS show more low energy/weak symptoms and less sensory sensitivity as compared to children with iASD. This study is the first to demonstrate differences in sensory reactivity between children with PMS and iASD, helping to refine the PMS phenotype. En ligne : http://dx.doi.org/10.1007/s10803-016-2754-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=290

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome / Tess LEVY in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome Type de document : texte imprimé Auteurs : Tess LEVY, Auteur ; Jacob GLUCKMAN, Auteur ; Paige M. SIPER, Auteur ; Danielle HALPERN, Auteur ; Jessica ZWEIFACH, Auteur ; Rajna FILIP-DHIMA, Auteur ; J. Lloyd Jr HOLDER, Auteur ; M. Pilar TRELLES, Auteur ; Kristina JOHNSON, Auteur ; Jonathan A. BERNSTEIN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Craig M. POWELL, Auteur ; Latha Valluripalli SOORYA, Auteur ; Audrey THURM, Auteur ; Joseph D. BUXBAUM, Auteur ; Mustafa SAHIN, Auteur ; Alexander KOLEVZON, Auteur ; Siddharth SRIVASTAVA, Auteur ; DEVELOPMENTAL SYNAPTOPATHIES CONSORTIUM, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Seizures/genetics  Chromosome Deletion  Chromosome Disorders/complications/genetics/physiopathology  Chromosomes, Human, Pair 22/genetics  Child  Child, Preschool  Adolescent  Longitudinal Studies  Young Adult  Adult  Prospective Studies  Infant  Nerve Tissue Proteins/genetics  22q13  Epilepsy  Phelan-McDermid syndrome  Shank3  Seizures Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals with PMS also have epilepsy or seizures, with a wide range of types and ages of onset. Investigating the impact of seizures on intellectual and adaptive functioning for PMS is a primary concern for caregivers and is important to understanding the natural history of this syndrome. METHODS: We report on results from 98 individuals enrolled in a prospective, longitudinal study. We detailed seizure frequency, type, and age of onset, and we analyzed seizure occurrence with best estimate IQ, adaptive functioning, clinical features, and genotype. We conducted multiple linear regression analyses to assess the relationship between the presence of seizures and the Vineland Adaptive Behavior Scale, Second Edition (VABS-II) Adaptive Behavior Composite score and the best estimate full-scale IQ. We also performed Chi-square tests to explore associations between seizure prevalence and genetic groupings. Finally, we performed Chi-square tests and t-tests to explore the relationship between seizures and demographic features, features that manifest in infancy, and medical features. RESULTS: Seizures were present in 41% of the cohort, and age of onset was widely variable. The presence of seizures was associated with significantly lower adaptive and intellectual functioning. Genotype-phenotype analyses were discrepant, with no differences in seizure prevalence across genetic classes, but with more genes included in deletions of participants with 22q13 deletions and seizures compared to those with 22q13 deletions and no seizures. No clinical associations were found between the presence of seizures and sex, history of pre- or neonatal complications, early infancy, or medical features. In this cohort, generalized seizures were associated with developmental regression, which is a top concern for PMS caregivers. CONCLUSIONS: These results begin to eludicate correlates of seizures in individuals with PMS and highlight the importance of early seizure management. Importantly, presence of seizures was associated with adaptive and cognitive functioning. A larger cohort might be able to identify additional associations with medical features. Genetic findings suggest an increased capability to realize genotype-phenotype relationships when deletion size is taken into account. En ligne : https://dx.doi.org/10.1186/s11689-024-09541-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome [texte imprimé] / Tess LEVY, Auteur ; Jacob GLUCKMAN, Auteur ; Paige M. SIPER, Auteur ; Danielle HALPERN, Auteur ; Jessica ZWEIFACH, Auteur ; Rajna FILIP-DHIMA, Auteur ; J. Lloyd Jr HOLDER, Auteur ; M. Pilar TRELLES, Auteur ; Kristina JOHNSON, Auteur ; Jonathan A. BERNSTEIN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Craig M. POWELL, Auteur ; Latha Valluripalli SOORYA, Auteur ; Audrey THURM, Auteur ; Joseph D. BUXBAUM, Auteur ; Mustafa SAHIN, Auteur ; Alexander KOLEVZON, Auteur ; Siddharth SRIVASTAVA, Auteur ; DEVELOPMENTAL SYNAPTOPATHIES CONSORTIUM, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Male  Female  Seizures/genetics  Chromosome Deletion  Chromosome Disorders/complications/genetics/physiopathology  Chromosomes, Human, Pair 22/genetics  Child  Child, Preschool  Adolescent  Longitudinal Studies  Young Adult  Adult  Prospective Studies  Infant  Nerve Tissue Proteins/genetics  22q13  Epilepsy  Phelan-McDermid syndrome  Shank3  Seizures Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals with PMS also have epilepsy or seizures, with a wide range of types and ages of onset. Investigating the impact of seizures on intellectual and adaptive functioning for PMS is a primary concern for caregivers and is important to understanding the natural history of this syndrome. METHODS: We report on results from 98 individuals enrolled in a prospective, longitudinal study. We detailed seizure frequency, type, and age of onset, and we analyzed seizure occurrence with best estimate IQ, adaptive functioning, clinical features, and genotype. We conducted multiple linear regression analyses to assess the relationship between the presence of seizures and the Vineland Adaptive Behavior Scale, Second Edition (VABS-II) Adaptive Behavior Composite score and the best estimate full-scale IQ. We also performed Chi-square tests to explore associations between seizure prevalence and genetic groupings. Finally, we performed Chi-square tests and t-tests to explore the relationship between seizures and demographic features, features that manifest in infancy, and medical features. RESULTS: Seizures were present in 41% of the cohort, and age of onset was widely variable. The presence of seizures was associated with significantly lower adaptive and intellectual functioning. Genotype-phenotype analyses were discrepant, with no differences in seizure prevalence across genetic classes, but with more genes included in deletions of participants with 22q13 deletions and seizures compared to those with 22q13 deletions and no seizures. No clinical associations were found between the presence of seizures and sex, history of pre- or neonatal complications, early infancy, or medical features. In this cohort, generalized seizures were associated with developmental regression, which is a top concern for PMS caregivers. CONCLUSIONS: These results begin to eludicate correlates of seizures in individuals with PMS and highlight the importance of early seizure management. Importantly, presence of seizures was associated with adaptive and cognitive functioning. A larger cohort might be able to identify additional associations with medical features. Genetic findings suggest an increased capability to realize genotype-phenotype relationships when deletion size is taken into account. En ligne : https://dx.doi.org/10.1186/s11689-024-09541-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome / Alexander KOLEVZON in Molecular Autism, 13 (2022)  

Public ISBD [article]  inMolecular Autism > 13 (2022) . - 17 p. 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 [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

A clinician-administered observation and corresponding caregiver interview capturing DSM-5 sensory reactivity symptoms in children with ASD / Paige M. SIPER in Autism Research, 10-6 (June 2017)  

Permalink

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations / Silvia DE RUBEIS in Molecular Autism, 9 (2018)  

Permalink

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

Permalink

Examining the Efficacy of a Family Peer Advocate Model for Black and Hispanic Caregivers of Children with Autism Spectrum Disorder / J.M. JAMISON in Journal of Autism and Developmental Disorders, 47-5 (May 2017)  

Permalink

FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring / Reymundo LOZANO in Journal of Neurodevelopmental Disorders, 13 (2021)  

Permalink

Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder / Stephen K. SIECINSKI in Autism Research, 16-3 (March 2023)  

Permalink

Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms / Maria Del Pilar TRELLES in Molecular Autism, 12 (2021)  

Permalink

Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder / Jacquelin RANKINE in Journal of Autism and Developmental Disorders, 47-6 (June 2017)  

Permalink

Measuring Sensory Reactivity in Autism Spectrum Disorder: Application and Simplification of a Clinician-Administered Sensory Observation Scale / Teresa TAVASSOLI in Journal of Autism and Developmental Disorders, 46-1 (January 2016)  

Permalink

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

Permalink

---

1 2 3 (1 - 15 / 31) Par page : 25 50 100 200