AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission / Carolyn M. YRIGOLLEN in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.24 Titre : AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission Type de document : texte imprimé Auteurs : Carolyn M. YRIGOLLEN, Auteur ; Loreto MARTORELL, Auteur ; Blythe DURBIN-JOHNSON, Auteur ; Montserrat NAUDO, Auteur ; Jordi GENOVES, Auteur ; Alessandra MURGIA, Auteur ; Roberta POLLI, Auteur ; Linshu ZHOU, Auteur ; Deborah BARBOUTH, Auteur ; Abigail RUPCHOCK, Auteur ; Brenda FINUCANE, Auteur ; Gary J. LATHAM, Auteur ; Andrew HADD, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Flora TASSONE, Auteur Article en page(s) : p.24 Langues : Anglais (eng) Mots-clés : AGG interruptions  Fmr1  full mutation  gray/intermediate allele  premutation  risk of expansion Index. décimale : PER Périodiques Résumé : BACKGROUND: The presence of AGG interruptions in the CGG repeat locus of the fragile X mental retardation 1 (FMR1) gene decreases the instability of the allele during transmission from parent to child, and decreases the risk of expansion of a premutation allele to a full mutation allele (the predominant cause of fragile X syndrome) during maternal transmission. METHODS: To strengthen recent findings on the utility of AGG interruptions in predicting instability or expansion to a full mutation of FMR1 CGG repeat alleles, we assessed the outcomes of 108 intermediate (also named gray zone) and 710 premutation alleles that were transmitted from parent to child, and collected from four international clinical sites. We have used the results to revise our initial model that predicted the risk of a maternal premutation allele expanding to a full mutation during transmission and to test the effect of AGG interruptions on the magnitude of expanded allele instability of intermediate or premutation alleles that did not expand to a full mutation. RESULTS: Consistent with previous studies, the number of AGG triplets that interrupts the CGG repeat locus was found to influence the risk of allele instability, including expansion to a full mutation. The total length of the CGG repeat allele remains the best predictor of instability or expansion to a full mutation, but the number of AGG interruptions and, to a much lesser degree, maternal age are also factors when considering the risk of transmission of the premutation allele to a full mutation. CONCLUSIONS: Our findings demonstrate that a model with total CGG length, number of AGG interruptions, and maternal age is recommended for calculating the risk of expansion to a full mutation during maternal transmission. Taken together, the results of this study provide relevant information for the genetic counseling of female premutation carriers, and improve the current predictive models which calculate risk of expansion to a full mutation using only total CGG repeat length. En ligne : http://dx.doi.org/10.1186/1866-1955-6-24 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission [texte imprimé] / Carolyn M. YRIGOLLEN, Auteur ; Loreto MARTORELL, Auteur ; Blythe DURBIN-JOHNSON, Auteur ; Montserrat NAUDO, Auteur ; Jordi GENOVES, Auteur ; Alessandra MURGIA, Auteur ; Roberta POLLI, Auteur ; Linshu ZHOU, Auteur ; Deborah BARBOUTH, Auteur ; Abigail RUPCHOCK, Auteur ; Brenda FINUCANE, Auteur ; Gary J. LATHAM, Auteur ; Andrew HADD, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Flora TASSONE, Auteur . - p.24. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.24 Mots-clés : AGG interruptions  Fmr1  full mutation  gray/intermediate allele  premutation  risk of expansion Index. décimale : PER Périodiques Résumé : BACKGROUND: The presence of AGG interruptions in the CGG repeat locus of the fragile X mental retardation 1 (FMR1) gene decreases the instability of the allele during transmission from parent to child, and decreases the risk of expansion of a premutation allele to a full mutation allele (the predominant cause of fragile X syndrome) during maternal transmission. METHODS: To strengthen recent findings on the utility of AGG interruptions in predicting instability or expansion to a full mutation of FMR1 CGG repeat alleles, we assessed the outcomes of 108 intermediate (also named gray zone) and 710 premutation alleles that were transmitted from parent to child, and collected from four international clinical sites. We have used the results to revise our initial model that predicted the risk of a maternal premutation allele expanding to a full mutation during transmission and to test the effect of AGG interruptions on the magnitude of expanded allele instability of intermediate or premutation alleles that did not expand to a full mutation. RESULTS: Consistent with previous studies, the number of AGG triplets that interrupts the CGG repeat locus was found to influence the risk of allele instability, including expansion to a full mutation. The total length of the CGG repeat allele remains the best predictor of instability or expansion to a full mutation, but the number of AGG interruptions and, to a much lesser degree, maternal age are also factors when considering the risk of transmission of the premutation allele to a full mutation. CONCLUSIONS: Our findings demonstrate that a model with total CGG length, number of AGG interruptions, and maternal age is recommended for calculating the risk of expansion to a full mutation during maternal transmission. Taken together, the results of this study provide relevant information for the genetic counseling of female premutation carriers, and improve the current predictive models which calculate risk of expansion to a full mutation using only total CGG repeat length. En ligne : http://dx.doi.org/10.1186/1866-1955-6-24 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

Aging in fragile X syndrome / Agustini UTARI in Journal of Neurodevelopmental Disorders, 2-2 (June 2010)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 2-2 (June 2010) . - p.70-76 Titre : Aging in fragile X syndrome Type de document : texte imprimé Auteurs : Agustini UTARI, Auteur ; Evan ADAMS, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Alyssa D. CHAVEZ, Auteur ; Felicia SCAGGS, Auteur ; Lily NGOTRAN, Auteur ; Antoniya BOYD, Auteur ; David HESSL, Auteur ; Louise W. GANE, Auteur ; Flora TASSONE, Auteur ; Nicole TARTAGLIA, Auteur ; Maureen A. LEEHEY, Auteur ; Randi J. HAGERMAN, Auteur Article en page(s) : p.70-76 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Many studies have focused on the behavior and cognitive problems in young patients with fragile X syndrome (FXS), but there are no studies about the problems in aging for those with FXS. The discovery of the fragile X-associated tremor ataxia syndrome (FXTAS), a neurodegenerative disorder related to elevated FMR1-mRNA, in elderly men and some women with the premutation, intensified the need for aging studies in FXS. Approximately 40% of males with FXS have repeat size mosaicism and as a result, some of these individuals also have elevated levels of FMR1-mRNA which theoretically puts them at risk for FXTAS. Here, we have surveyed all of the aging patients with FXS that we have followed over the years to clarify the medical complications of aging seen in those with FXS. Data was collected from 62 individuals with the FXS full mutation (44 males; 18 females) who were at least 40 years old at their most recent clinical examination. We found that the five most frequent medical problems in these patients were neurological problems (38.7%), gastrointestinal problems (30.6%), obesity (28.8%), hypertension (24.2%) and heart problems (24.2%). Movement disorders were significantly different between males and females (38.6% vs.10.2%, p = 0.029). We did not find any differences in medical problems between those with a full mutation and those with mosaicism. Identification of medical problems associated with aging in FXS is important to establish appropriate recommendations for medical screening and treatment considerations. En ligne : http://dx.doi.org/10.1007/s11689-010-9047-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] Aging in fragile X syndrome [texte imprimé] / Agustini UTARI, Auteur ; Evan ADAMS, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Alyssa D. CHAVEZ, Auteur ; Felicia SCAGGS, Auteur ; Lily NGOTRAN, Auteur ; Antoniya BOYD, Auteur ; David HESSL, Auteur ; Louise W. GANE, Auteur ; Flora TASSONE, Auteur ; Nicole TARTAGLIA, Auteur ; Maureen A. LEEHEY, Auteur ; Randi J. HAGERMAN, Auteur . - p.70-76. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 2-2 (June 2010) . - p.70-76 Index. décimale : PER Périodiques Résumé : Many studies have focused on the behavior and cognitive problems in young patients with fragile X syndrome (FXS), but there are no studies about the problems in aging for those with FXS. The discovery of the fragile X-associated tremor ataxia syndrome (FXTAS), a neurodegenerative disorder related to elevated FMR1-mRNA, in elderly men and some women with the premutation, intensified the need for aging studies in FXS. Approximately 40% of males with FXS have repeat size mosaicism and as a result, some of these individuals also have elevated levels of FMR1-mRNA which theoretically puts them at risk for FXTAS. Here, we have surveyed all of the aging patients with FXS that we have followed over the years to clarify the medical complications of aging seen in those with FXS. Data was collected from 62 individuals with the FXS full mutation (44 males; 18 females) who were at least 40 years old at their most recent clinical examination. We found that the five most frequent medical problems in these patients were neurological problems (38.7%), gastrointestinal problems (30.6%), obesity (28.8%), hypertension (24.2%) and heart problems (24.2%). Movement disorders were significantly different between males and females (38.6% vs.10.2%, p = 0.029). We did not find any differences in medical problems between those with a full mutation and those with mosaicism. Identification of medical problems associated with aging in FXS is important to establish appropriate recommendations for medical screening and treatment considerations. En ligne : http://dx.doi.org/10.1007/s11689-010-9047-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342

Brief Report: Aggression and Stereotypic Behavior in Males with Fragile X Syndrome—Moderating Secondary Genes in a “Single Gene” Disorder / David HESSL in Journal of Autism and Developmental Disorders, 38-1 (January 2008)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 38-1 (January 2008) . - p.184-189 Titre : Brief Report: Aggression and Stereotypic Behavior in Males with Fragile X Syndrome—Moderating Secondary Genes in a “Single Gene” Disorder Type de document : texte imprimé Auteurs : David HESSL, Auteur ; Randi J. HAGERMAN, Auteur ; Flora TASSONE, Auteur ; Lisa CORDEIRO, Auteur ; Kami KOLDEWYN, Auteur ; Carolyn MCCORMICK, Auteur ; Cherie C. GREEN, Auteur ; Jacob WEGELIN, Auteur ; Jennifer YUHAS, Auteur Année de publication : 2008 Article en page(s) : p.184-189 Langues : Anglais (eng) Mots-clés : Serotonin-transporter Monoamine-oxidase-A Polymorphism 5-HTTLPR - MAOA -FMR1-gene Self-injurious-behavior Index. décimale : PER Périodiques Résumé : Although fragile X syndrome (FXS) is a single gene disorder with a well-described phenotype, it is not known why some individuals develop more significant maladaptive behaviors such as aggression or autistic symptoms. Here, we studied two candidate genes known to affect mood and aggression, the serotonin transporter (5-HTTLPR) and monoamine oxidase A (MAOA-VNTR) polymorphisms, in 50 males with FXS ages 8–24 years. Mothers and fathers of participants reported the frequency and severity of aggressive/destructive, self-injurious, and stereotypic behaviors. Polymorphism genotypes were unrelated to age and IQ. Results showed a significant effect of 5-HTTLPR genotype on aggressive/destructive and stereotypic behavior; males with FXS who were homozygous for the high-transcribing long (L/L) genotype had the most aggressive and destructive behavior, and individuals homozygous for the short (S/S) genotype had the least aggression. Those with the L/L genotype also had the highest levels of stereotypic behavior. There was no effect of MAOA-VNTR on behavior; however those with the high-activity, 4-repeat genotype were more likely to be taking SSRI or SNRI medication. This preliminary study prompts consideration of secondary genes that may modify behavioral phenotype expression in neurodevelopmental disorders, even those with a single gene etiology such as FXS. En ligne : http://dx.doi.org/10.1007/s10803-007-0365-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=317 [article] Brief Report: Aggression and Stereotypic Behavior in Males with Fragile X Syndrome—Moderating Secondary Genes in a “Single Gene” Disorder [texte imprimé] / David HESSL, Auteur ; Randi J. HAGERMAN, Auteur ; Flora TASSONE, Auteur ; Lisa CORDEIRO, Auteur ; Kami KOLDEWYN, Auteur ; Carolyn MCCORMICK, Auteur ; Cherie C. GREEN, Auteur ; Jacob WEGELIN, Auteur ; Jennifer YUHAS, Auteur . - 2008 . - p.184-189. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 38-1 (January 2008) . - p.184-189 Mots-clés : Serotonin-transporter Monoamine-oxidase-A Polymorphism 5-HTTLPR - MAOA -FMR1-gene Self-injurious-behavior Index. décimale : PER Périodiques Résumé : Although fragile X syndrome (FXS) is a single gene disorder with a well-described phenotype, it is not known why some individuals develop more significant maladaptive behaviors such as aggression or autistic symptoms. Here, we studied two candidate genes known to affect mood and aggression, the serotonin transporter (5-HTTLPR) and monoamine oxidase A (MAOA-VNTR) polymorphisms, in 50 males with FXS ages 8–24 years. Mothers and fathers of participants reported the frequency and severity of aggressive/destructive, self-injurious, and stereotypic behaviors. Polymorphism genotypes were unrelated to age and IQ. Results showed a significant effect of 5-HTTLPR genotype on aggressive/destructive and stereotypic behavior; males with FXS who were homozygous for the high-transcribing long (L/L) genotype had the most aggressive and destructive behavior, and individuals homozygous for the short (S/S) genotype had the least aggression. Those with the L/L genotype also had the highest levels of stereotypic behavior. There was no effect of MAOA-VNTR on behavior; however those with the high-activity, 4-repeat genotype were more likely to be taking SSRI or SNRI medication. This preliminary study prompts consideration of secondary genes that may modify behavioral phenotype expression in neurodevelopmental disorders, even those with a single gene etiology such as FXS. En ligne : http://dx.doi.org/10.1007/s10803-007-0365-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=317

Brief Report: Sensorimotor Gating in Idiopathic Autism and Autism Associated with Fragile X Syndrome / Jennifer YUHAS in Journal of Autism and Developmental Disorders, 41-2 (February 2011)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 41-2 (February 2011) . - p.248-253 Titre : Brief Report: Sensorimotor Gating in Idiopathic Autism and Autism Associated with Fragile X Syndrome Type de document : texte imprimé Auteurs : Jennifer YUHAS, Auteur ; Lisa CORDEIRO, Auteur ; Flora TASSONE, Auteur ; Elizabeth C. BALLINGER, Auteur ; Andrea SCHNEIDER, Auteur ; James M. LONG, Auteur ; Edward M. ORNITZ, Auteur ; David HESSL, Auteur Année de publication : 2011 Article en page(s) : p.248-253 Note générale : Article Open Access Langues : Anglais (eng) Mots-clés : PPI  FMR1 gene  Sensorimotor gating  mGluR5  Prepulse inhibition  Startle Index. décimale : PER Périodiques Résumé : Prepulse inhibition (PPI) may useful for exploring the proposed shared neurobiology between idiopathic autism and autism caused by FXS. We compared PPI in four groups: typically developing controls (n = 18), FXS and autism (FXS+A; n = 15), FXS without autism spectrum disorder (FXS−A; n = 17), and idiopathic autism (IA; n = 15). Relative to controls, the FXS+A (p < 0.002) and FXS−A (p < 0.003) groups had impaired PPI. The FXS+A (p < 0.01) and FXS−A (p < 0.03) groups had lower PPI than the IA group. Prolonged startle latency was seen in the IA group. The differing PPI profiles seen in the FXS+A and IA indicates these groups may not share a common neurobiological abnormality of sensorimotor gating. En ligne : http://dx.doi.org/10.1007/s10803-010-1040-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=117 [article] Brief Report: Sensorimotor Gating in Idiopathic Autism and Autism Associated with Fragile X Syndrome [texte imprimé] / Jennifer YUHAS, Auteur ; Lisa CORDEIRO, Auteur ; Flora TASSONE, Auteur ; Elizabeth C. BALLINGER, Auteur ; Andrea SCHNEIDER, Auteur ; James M. LONG, Auteur ; Edward M. ORNITZ, Auteur ; David HESSL, Auteur . - 2011 . - p.248-253. Article Open Access Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 41-2 (February 2011) . - p.248-253 Mots-clés : PPI  FMR1 gene  Sensorimotor gating  mGluR5  Prepulse inhibition  Startle Index. décimale : PER Périodiques Résumé : Prepulse inhibition (PPI) may useful for exploring the proposed shared neurobiology between idiopathic autism and autism caused by FXS. We compared PPI in four groups: typically developing controls (n = 18), FXS and autism (FXS+A; n = 15), FXS without autism spectrum disorder (FXS−A; n = 17), and idiopathic autism (IA; n = 15). Relative to controls, the FXS+A (p < 0.002) and FXS−A (p < 0.003) groups had impaired PPI. The FXS+A (p < 0.01) and FXS−A (p < 0.03) groups had lower PPI than the IA group. Prolonged startle latency was seen in the IA group. The differing PPI profiles seen in the FXS+A and IA indicates these groups may not share a common neurobiological abnormality of sensorimotor gating. En ligne : http://dx.doi.org/10.1007/s10803-010-1040-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=117

Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome / Angela John THURMAN in Journal of Neurodevelopmental Disorders, 12 (2020)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 12 (2020) Titre : Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome Type de document : texte imprimé Auteurs : Angela John THURMAN, Auteur ; Laura A. POTTER, Auteur ; Kyoungmi KIM, Auteur ; Flora TASSONE, Auteur ; Amy BANASIK, Auteur ; Sarah Nelson POTTER, Auteur ; Lauren BULLARD, Auteur ; Vivian NGUYEN, Auteur ; Andrea MCDUFFIE, Auteur ; Randi HAGERMAN, Auteur ; Leonard ABBEDUTO, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  California  Child  Communication  Double-Blind Method  Female  Fragile X Syndrome/therapy  Humans  Language  Language Therapy/methods  Lovastatin/therapeutic use  Male  Mothers/education  Outcome Assessment, Health Care  Telecommunications  Distance teleconferencing  Expressive language sampling  Fragile X syndrome  Lovastatin  Narrative storytelling  Pili  Parent-implemented language intervention  outcome measures from Fulcrum Therapeutics and the Azrieli Foundation. FT has  received funding from the Azrieli Foundation, Zynerba, and Asuragen, Inc., for  studies in FXS. RH has received funding from Zynerba, Ovid, and the Azrieli  Foundation for treatment studies in children and adults with FXS. She has also  consulted with Zynerba and Fulcrum regarding treatment studies in FXS. LA has  received funding for the development and implementation of treatment outcome  measures from the F. Hoffmann-La Roche Ltd., Roche TCRC, Inc., Neuren  Pharmaceuticals Ltd., Fulcrum Therapeutics, Azrieli Foundation, and LuMind IDSC  Foundation. Index. décimale : PER Périodiques Résumé : BACKGROUND: The purpose of this study was to conduct a 20-week controlled trial of lovastatin (10 to 40 mg/day) in youth with fragile X syndrome (FXS) ages 10 to 17 years, combined with an open-label treatment of a parent-implemented language intervention (PILI), delivered via distance video teleconferencing to both treatment groups, lovastatin and placebo. METHOD: A randomized, double-blind trial was conducted at one site in the Sacramento, California, metropolitan area. Fourteen participants were assigned to the lovastatin group; two participants terminated early from the study. Sixteen participants were assigned to the placebo group. Lovastatin or placebo was administered orally in a capsule form, starting at 10 mg and increasing weekly or as tolerated by 10 mg increments, up to a maximum dose of 40 mg daily. A PILI was delivered to both groups for 12 weeks, with 4 activities per week, through video teleconferencing by an American Speech-Language Association-certified Speech-Language Pathologist, in collaboration with a Board-Certified Behavior Analyst. Parents were taught to use a set of language facilitation strategies while interacting with their children during a shared storytelling activity. The main outcome measures included absolute change from baseline to final visit in the means for youth total number of story-related utterances, youth number of different word roots, and parent total number of story-related utterances. RESULTS: Significant increases in all primary outcome measures were observed in both treatment groups. Significant improvements were also observed in parent reports of the severity of spoken language and social impairments in both treatment groups. In all cases, the amount of change observed did not differ across the two treatment groups. Although gains in parental use of the PILI-targeted intervention strategies were observed in both treatment groups, parental use of the PILI strategies was correlated with youth gains in the placebo group and not in the lovastatin group. CONCLUSION: Participants in both groups demonstrated significant changes in the primary outcome measures. The magnitude of change observed across the two groups was comparable, providing additional support for the efficacy of the use of PILI in youth with FXS. TRIAL REGISTRATION: US National Institutes of Health (ClinicalTrials.gov), NCT02642653. Registered 12/30/2015. En ligne : https://dx.doi.org/10.1186/s11689-020-09315-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome [texte imprimé] / Angela John THURMAN, Auteur ; Laura A. POTTER, Auteur ; Kyoungmi KIM, Auteur ; Flora TASSONE, Auteur ; Amy BANASIK, Auteur ; Sarah Nelson POTTER, Auteur ; Lauren BULLARD, Auteur ; Vivian NGUYEN, Auteur ; Andrea MCDUFFIE, Auteur ; Randi HAGERMAN, Auteur ; Leonard ABBEDUTO, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 12 (2020) Mots-clés : Adolescent  California  Child  Communication  Double-Blind Method  Female  Fragile X Syndrome/therapy  Humans  Language  Language Therapy/methods  Lovastatin/therapeutic use  Male  Mothers/education  Outcome Assessment, Health Care  Telecommunications  Distance teleconferencing  Expressive language sampling  Fragile X syndrome  Lovastatin  Narrative storytelling  Pili  Parent-implemented language intervention  outcome measures from Fulcrum Therapeutics and the Azrieli Foundation. FT has  received funding from the Azrieli Foundation, Zynerba, and Asuragen, Inc., for  studies in FXS. RH has received funding from Zynerba, Ovid, and the Azrieli  Foundation for treatment studies in children and adults with FXS. She has also  consulted with Zynerba and Fulcrum regarding treatment studies in FXS. LA has  received funding for the development and implementation of treatment outcome  measures from the F. Hoffmann-La Roche Ltd., Roche TCRC, Inc., Neuren  Pharmaceuticals Ltd., Fulcrum Therapeutics, Azrieli Foundation, and LuMind IDSC  Foundation. Index. décimale : PER Périodiques Résumé : BACKGROUND: The purpose of this study was to conduct a 20-week controlled trial of lovastatin (10 to 40 mg/day) in youth with fragile X syndrome (FXS) ages 10 to 17 years, combined with an open-label treatment of a parent-implemented language intervention (PILI), delivered via distance video teleconferencing to both treatment groups, lovastatin and placebo. METHOD: A randomized, double-blind trial was conducted at one site in the Sacramento, California, metropolitan area. Fourteen participants were assigned to the lovastatin group; two participants terminated early from the study. Sixteen participants were assigned to the placebo group. Lovastatin or placebo was administered orally in a capsule form, starting at 10 mg and increasing weekly or as tolerated by 10 mg increments, up to a maximum dose of 40 mg daily. A PILI was delivered to both groups for 12 weeks, with 4 activities per week, through video teleconferencing by an American Speech-Language Association-certified Speech-Language Pathologist, in collaboration with a Board-Certified Behavior Analyst. Parents were taught to use a set of language facilitation strategies while interacting with their children during a shared storytelling activity. The main outcome measures included absolute change from baseline to final visit in the means for youth total number of story-related utterances, youth number of different word roots, and parent total number of story-related utterances. RESULTS: Significant increases in all primary outcome measures were observed in both treatment groups. Significant improvements were also observed in parent reports of the severity of spoken language and social impairments in both treatment groups. In all cases, the amount of change observed did not differ across the two treatment groups. Although gains in parental use of the PILI-targeted intervention strategies were observed in both treatment groups, parental use of the PILI strategies was correlated with youth gains in the placebo group and not in the lovastatin group. CONCLUSION: Participants in both groups demonstrated significant changes in the primary outcome measures. The magnitude of change observed across the two groups was comparable, providing additional support for the efficacy of the use of PILI in youth with FXS. TRIAL REGISTRATION: US National Institutes of Health (ClinicalTrials.gov), NCT02642653. Registered 12/30/2015. En ligne : https://dx.doi.org/10.1186/s11689-020-09315-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation / Ling M. WONG in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

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Developmental profiles of infants with an FMR1 premutation / Anne C. WHEELER in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

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Fragile x premutation / Flora TASSONE in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

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Genomic studies in fragile X premutation carriers / Reymundo LOZANO in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

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Identification of Expanded Alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study / Flora TASSONE in Journal of Autism and Developmental Disorders, 43-3 (March 2013)  

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MAOA, DBH, and SLC6A4 variants in CHARGE: a case–control study of autism spectrum disorders / Flora TASSONE in Autism Research, 4-4 (August 2011)  

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Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome / Claudia M. GRECO in Molecular Autism, (February 2011)  

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Neuropsychological changes in FMR1 premutation carriers and onset of fragile X-associated tremor/ataxia syndrome / Jessica FAMULA in Journal of Neurodevelopmental Disorders, 14 (2022)  

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A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX) / Elizabeth BERRY-KRAVIS in Journal of Neurodevelopmental Disorders, 14 (2022)  

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A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome / Andrew LIGSAY in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

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