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Détail de l'auteur
Auteur Randi J. HAGERMAN |
Documents disponibles écrits par cet auteur (36)
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Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome / Melissa RASPA ; Carla M. BANN ; Julia M. GABLE ; Holly K. HARRIS ; Dejan B. BUDIMIROVIC ; Reymundo LOZANO ; Elizabeth BERRY-KRAVIS ; Milen VELINOV ; Amy L. TALBOY ; Stephanie L. SHERMAN ; Walter E. KAUFMANN ; Marcy SCHUSTER ; Nicole TARTAGLIA ; Robyn A. FILIPINK ; Dejan B. BUDIMIROVIC ; Deborah BARBOUTH ; Amy LIGHTBODY ; Allan REISS ; Carol M. DELAHUNTY ; Randi J. HAGERMAN ; David HESSL ; Craig A. ERICKSON ; Gary FELDMAN ; Jonathan D. PICKER ; Ave M. LACHIEWICZ ; Holly K. HARRIS ; Amy ESLER ; Richard E. FRYE ; Patricia A. EVANS ; Mary Ann MORRIS ; Barbara A. HAAS-GIVLER ; Andrea L. GROPMAN ; Ryan S. UY ; Carrie BUCHANAN ; Jean A. FRAZIER ; Stephanie M. MORRIS ; Forward CONSORTIUM in Journal of Autism and Developmental Disorders, 54-2 (February 2024)
[article]
Titre : Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Melissa RASPA, Auteur ; Carla M. BANN, Auteur ; Julia M. GABLE, Auteur ; Holly K. HARRIS, Auteur ; Dejan B. BUDIMIROVIC, Auteur ; Reymundo LOZANO, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Milen VELINOV, Auteur ; Amy L. TALBOY, Auteur ; Stephanie L. SHERMAN, Auteur ; Walter E. KAUFMANN, Auteur ; Marcy SCHUSTER, Auteur ; Nicole TARTAGLIA, Auteur ; Robyn A. FILIPINK, Auteur ; Dejan B. BUDIMIROVIC, Auteur ; Deborah BARBOUTH, Auteur ; Amy LIGHTBODY, Auteur ; Allan REISS, Auteur ; Carol M. DELAHUNTY, Auteur ; Randi J. HAGERMAN, Auteur ; David HESSL, Auteur ; Craig A. ERICKSON, Auteur ; Gary FELDMAN, Auteur ; Jonathan D. PICKER, Auteur ; Ave M. LACHIEWICZ, Auteur ; Holly K. HARRIS, Auteur ; Amy ESLER, Auteur ; Richard E. FRYE, Auteur ; Patricia A. EVANS, Auteur ; Mary Ann MORRIS, Auteur ; Barbara A. HAAS-GIVLER, Auteur ; Andrea L. GROPMAN, Auteur ; Ryan S. UY, Auteur ; Carrie BUCHANAN, Auteur ; Jean A. FRAZIER, Auteur ; Stephanie M. MORRIS, Auteur ; Forward CONSORTIUM, Auteur Article en page(s) : p.725-737 Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is characterized by variable neurobehavioral abnormalities, which leads to difficulties in developing and evaluating treatments and in determining accurate prognosis. We employed a pediatric cross-sectional sample (1,072 males, 338 females) from FORWARD, a clinic-based natural history study, to identify behavioral subtypes by latent class analysis. Input included co-occurring behavioral conditions, sleep and sensory problems, autistic behavior scales (SCQ, SRS-2), and the Aberrant Behavior Checklist revised for FXS (ABCFX). A 5-class solution yielded the most clinically meaningful, pharmacotherapy independent behavioral groups with distinctive SCQ, SRS-2, and ABCFX profiles, and adequate non-overlap (??71%): ?Mild? (31%), ?Moderate without Social Impairment? (32%), ?Moderate with Social Impairment? (7%), ?Moderate with Disruptive Behavior? (20%), and ?Severe? (9%). Our findings support FXS subtyping, for improving clinical management and therapeutic development. En ligne : https://doi.org/10.1007/s10803-022-05821-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520
in Journal of Autism and Developmental Disorders > 54-2 (February 2024) . - p.725-737[article] Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome [Texte imprimé et/ou numérique] / Melissa RASPA, Auteur ; Carla M. BANN, Auteur ; Julia M. GABLE, Auteur ; Holly K. HARRIS, Auteur ; Dejan B. BUDIMIROVIC, Auteur ; Reymundo LOZANO, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Milen VELINOV, Auteur ; Amy L. TALBOY, Auteur ; Stephanie L. SHERMAN, Auteur ; Walter E. KAUFMANN, Auteur ; Marcy SCHUSTER, Auteur ; Nicole TARTAGLIA, Auteur ; Robyn A. FILIPINK, Auteur ; Dejan B. BUDIMIROVIC, Auteur ; Deborah BARBOUTH, Auteur ; Amy LIGHTBODY, Auteur ; Allan REISS, Auteur ; Carol M. DELAHUNTY, Auteur ; Randi J. HAGERMAN, Auteur ; David HESSL, Auteur ; Craig A. ERICKSON, Auteur ; Gary FELDMAN, Auteur ; Jonathan D. PICKER, Auteur ; Ave M. LACHIEWICZ, Auteur ; Holly K. HARRIS, Auteur ; Amy ESLER, Auteur ; Richard E. FRYE, Auteur ; Patricia A. EVANS, Auteur ; Mary Ann MORRIS, Auteur ; Barbara A. HAAS-GIVLER, Auteur ; Andrea L. GROPMAN, Auteur ; Ryan S. UY, Auteur ; Carrie BUCHANAN, Auteur ; Jean A. FRAZIER, Auteur ; Stephanie M. MORRIS, Auteur ; Forward CONSORTIUM, Auteur . - p.725-737.
in Journal of Autism and Developmental Disorders > 54-2 (February 2024) . - p.725-737
Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is characterized by variable neurobehavioral abnormalities, which leads to difficulties in developing and evaluating treatments and in determining accurate prognosis. We employed a pediatric cross-sectional sample (1,072 males, 338 females) from FORWARD, a clinic-based natural history study, to identify behavioral subtypes by latent class analysis. Input included co-occurring behavioral conditions, sleep and sensory problems, autistic behavior scales (SCQ, SRS-2), and the Aberrant Behavior Checklist revised for FXS (ABCFX). A 5-class solution yielded the most clinically meaningful, pharmacotherapy independent behavioral groups with distinctive SCQ, SRS-2, and ABCFX profiles, and adequate non-overlap (??71%): ?Mild? (31%), ?Moderate without Social Impairment? (32%), ?Moderate with Social Impairment? (7%), ?Moderate with Disruptive Behavior? (20%), and ?Severe? (9%). Our findings support FXS subtyping, for improving clinical management and therapeutic development. En ligne : https://doi.org/10.1007/s10803-022-05821-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520 Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome / Claudia M. GRECO in Molecular Autism, (February 2011)
[article]
Titre : Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Claudia M. GRECO, Auteur ; Celestine S. NAVARRO, Auteur ; Michael R. HUNSAKER, Auteur ; Izumi MAEZAWA, Auteur ; John F. SHULER, Auteur ; Flora TASSONE, Auteur ; Mary DELANY, Auteur ; Jacky W. AU, Auteur ; Robert F. BERMAN, Auteur ; Lee-Way JIN, Auteur ; Cynthia M. SCHUMANN, Auteur ; Paul J. HAGERMAN, Auteur ; Randi J. HAGERMAN, Auteur Année de publication : 2011 Article en page(s) : 13 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Background
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability, and is the most common single-gene disorder known to be associated with autism. Despite recent advances in functional neuroimaging and our understanding of the molecular pathogenesis, only limited neuropathologic information on FXS is available.
Methods
Neuropathologic examinations were performed on post-mortem brain tissue from three older men (aged 57, 64 and 78 years) who had received a clinical or genetic diagnosis of FXS. In each case, physical and cognitive features were typical of FXS, and one man was also diagnosed with autism. Guided by reports of clinical and neuroimaging abnormalities of the limbic system and cerebellum of individuals with FXS, the current analysis focused on neuropathologic features present in the hippocampus and the cerebellar vermis.
Results
Histologic and immunologic staining revealed abnormalities in both the hippocampus and cerebellar vermis. Focal thickening of hippocampal CA1 and irregularities in the appearance of the dentate gyrus were identified. All lobules of the cerebellar vermis and the lateral cortex of the posterior lobe of the cerebellum had decreased numbers of Purkinje cells, which were occasionally misplaced, and often lacked proper orientation. There were mild, albeit excessive, undulations of the internal granular cell layer, with patchy foliar white matter axonal and astrocytic abnormalities. Quantitative analysis documented panfoliar atrophy of both the anterior and posterior lobes of the vermis, with preferential atrophy of the posterior lobule (VI to VII) compared with age-matched normal controls.
Conclusions
Significant morphologic changes in the hippocampus and cerebellum in three adult men with FXS were identified. This pattern of pathologic features supports the idea that primary defects in neuronal migration, neurogenesis and aging may underlie the neuropathology reported in FXS.En ligne : http://dx.doi.org/10.1186/2040-2392-2-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121
in Molecular Autism > (February 2011) . - 13 p.[article] Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome [Texte imprimé et/ou numérique] / Claudia M. GRECO, Auteur ; Celestine S. NAVARRO, Auteur ; Michael R. HUNSAKER, Auteur ; Izumi MAEZAWA, Auteur ; John F. SHULER, Auteur ; Flora TASSONE, Auteur ; Mary DELANY, Auteur ; Jacky W. AU, Auteur ; Robert F. BERMAN, Auteur ; Lee-Way JIN, Auteur ; Cynthia M. SCHUMANN, Auteur ; Paul J. HAGERMAN, Auteur ; Randi J. HAGERMAN, Auteur . - 2011 . - 13 p.
Langues : Anglais (eng)
in Molecular Autism > (February 2011) . - 13 p.
Index. décimale : PER Périodiques Résumé : Background
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability, and is the most common single-gene disorder known to be associated with autism. Despite recent advances in functional neuroimaging and our understanding of the molecular pathogenesis, only limited neuropathologic information on FXS is available.
Methods
Neuropathologic examinations were performed on post-mortem brain tissue from three older men (aged 57, 64 and 78 years) who had received a clinical or genetic diagnosis of FXS. In each case, physical and cognitive features were typical of FXS, and one man was also diagnosed with autism. Guided by reports of clinical and neuroimaging abnormalities of the limbic system and cerebellum of individuals with FXS, the current analysis focused on neuropathologic features present in the hippocampus and the cerebellar vermis.
Results
Histologic and immunologic staining revealed abnormalities in both the hippocampus and cerebellar vermis. Focal thickening of hippocampal CA1 and irregularities in the appearance of the dentate gyrus were identified. All lobules of the cerebellar vermis and the lateral cortex of the posterior lobe of the cerebellum had decreased numbers of Purkinje cells, which were occasionally misplaced, and often lacked proper orientation. There were mild, albeit excessive, undulations of the internal granular cell layer, with patchy foliar white matter axonal and astrocytic abnormalities. Quantitative analysis documented panfoliar atrophy of both the anterior and posterior lobes of the vermis, with preferential atrophy of the posterior lobule (VI to VII) compared with age-matched normal controls.
Conclusions
Significant morphologic changes in the hippocampus and cerebellum in three adult men with FXS were identified. This pattern of pathologic features supports the idea that primary defects in neuronal migration, neurogenesis and aging may underlie the neuropathology reported in FXS.En ligne : http://dx.doi.org/10.1186/2040-2392-2-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121 A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome / A. LIGSAY in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
[article]
Titre : A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : A. LIGSAY, Auteur ; A. VAN DIJCK, Auteur ; D. V. NGUYEN, Auteur ; R. LOZANO, Auteur ; Y. CHEN, Auteur ; E. S. BICKEL, Auteur ; D. HESSL, Auteur ; A. SCHNEIDER, Auteur ; Kathleen ANGKUSTSIRI, Auteur ; F. TASSONE, Auteur ; B. CEULEMANS, Auteur ; R. F. KOOY, Auteur ; Randi J. HAGERMAN, Auteur Article en page(s) : p.26 Langues : Anglais (eng) Mots-clés : Adolescents Children Clinical trial Fragile X syndrome Ganaxolone Index. décimale : PER Périodiques Résumé : BACKGROUND: Gamma-aminobutyric acid (GABA) system deficits are integral to the pathophysiologic development of fragile X syndrome (FXS). Ganaxolone, a GABAA receptor positive allosteric modulator, is hypothesized to improve symptoms such as anxiety, hyperactivity, and attention deficits in children with FXS. METHODS: This study was a randomized, double-blind, placebo-controlled, crossover trial of ganaxolone in children with FXS, aged 6-17 years. RESULTS: Sixty-one participants were assessed for eligibility, and 59 were randomized to the study. Fifty-five participants completed at least the first arm and were included in the intention-to-treat analysis; 51 participants completed both treatment arms. There were no statistically significant improvements observed on the primary outcome measure (Clinical Global Impression-Improvement), the key secondary outcome measure (Pediatric Anxiety Rating Scale-R), or any other secondary outcome measures in the overall study population. However, post-hoc analyses revealed positive trends in areas of anxiety, attention, and hyperactivity in participants with higher baseline anxiety and low full-scale IQ scores. No serious adverse events (AEs) occurred, although there was a significant increase in the frequency and severity of AEs related to ganaxolone compared to placebo. CONCLUSIONS: While ganaxolone was found to be safe, there were no significant improvements in the outcome measures in the overall study population. However, ganaxolone in subgroups of children with FXS, including those with higher anxiety or lower cognitive abilities, might have beneficial effects. TRIAL REGISTRATION: ClinicalTrials.gov, NCT01725152. En ligne : http://dx.doi.org/10.1186/s11689-017-9207-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.26[article] A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome [Texte imprimé et/ou numérique] / A. LIGSAY, Auteur ; A. VAN DIJCK, Auteur ; D. V. NGUYEN, Auteur ; R. LOZANO, Auteur ; Y. CHEN, Auteur ; E. S. BICKEL, Auteur ; D. HESSL, Auteur ; A. SCHNEIDER, Auteur ; Kathleen ANGKUSTSIRI, Auteur ; F. TASSONE, Auteur ; B. CEULEMANS, Auteur ; R. F. KOOY, Auteur ; Randi J. HAGERMAN, Auteur . - p.26.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.26
Mots-clés : Adolescents Children Clinical trial Fragile X syndrome Ganaxolone Index. décimale : PER Périodiques Résumé : BACKGROUND: Gamma-aminobutyric acid (GABA) system deficits are integral to the pathophysiologic development of fragile X syndrome (FXS). Ganaxolone, a GABAA receptor positive allosteric modulator, is hypothesized to improve symptoms such as anxiety, hyperactivity, and attention deficits in children with FXS. METHODS: This study was a randomized, double-blind, placebo-controlled, crossover trial of ganaxolone in children with FXS, aged 6-17 years. RESULTS: Sixty-one participants were assessed for eligibility, and 59 were randomized to the study. Fifty-five participants completed at least the first arm and were included in the intention-to-treat analysis; 51 participants completed both treatment arms. There were no statistically significant improvements observed on the primary outcome measure (Clinical Global Impression-Improvement), the key secondary outcome measure (Pediatric Anxiety Rating Scale-R), or any other secondary outcome measures in the overall study population. However, post-hoc analyses revealed positive trends in areas of anxiety, attention, and hyperactivity in participants with higher baseline anxiety and low full-scale IQ scores. No serious adverse events (AEs) occurred, although there was a significant increase in the frequency and severity of AEs related to ganaxolone compared to placebo. CONCLUSIONS: While ganaxolone was found to be safe, there were no significant improvements in the outcome measures in the overall study population. However, ganaxolone in subgroups of children with FXS, including those with higher anxiety or lower cognitive abilities, might have beneficial effects. TRIAL REGISTRATION: ClinicalTrials.gov, NCT01725152. En ligne : http://dx.doi.org/10.1186/s11689-017-9207-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 Receptive Vocabulary in Boys with Autism Spectrum Disorder: Cross-Sectional Developmental Trajectories / Sara T. KOVER in Journal of Autism and Developmental Disorders, 43-11 (November 2013)
[article]
Titre : Receptive Vocabulary in Boys with Autism Spectrum Disorder: Cross-Sectional Developmental Trajectories Type de document : Texte imprimé et/ou numérique Auteurs : Sara T. KOVER, Auteur ; Andrea S. MCDUFFIE, Auteur ; Randi J. HAGERMAN, Auteur ; Leonard ABBEDUTO, Auteur Article en page(s) : p.2696-2709 Langues : Anglais (eng) Mots-clés : Autism Language development Comprehension Production Vocabulary Trajectory Index. décimale : PER Périodiques Résumé : In light of evidence that receptive language may be a relative weakness for individuals with autism spectrum disorder (ASD), this study characterized receptive vocabulary profiles in boys with ASD using cross-sectional developmental trajectories relative to age, nonverbal cognition, and expressive vocabulary. Participants were 49 boys with ASD (4–11 years) and 80 typically developing boys (2–11 years). Receptive vocabulary, assessed with the Peabody Picture Vocabulary Test, was a weakness for boys with ASD relative to age and nonverbal cognition. Relative to expressive vocabulary, assessed with the Expressive Vocabulary Test, receptive vocabulary increased at a lower rate for boys with ASD. Vocabulary trajectories in ASD are distinguished from typical development; however, nonverbal cognition largely accounts for the patterns observed. En ligne : http://dx.doi.org/10.1007/s10803-013-1823-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=217
in Journal of Autism and Developmental Disorders > 43-11 (November 2013) . - p.2696-2709[article] Receptive Vocabulary in Boys with Autism Spectrum Disorder: Cross-Sectional Developmental Trajectories [Texte imprimé et/ou numérique] / Sara T. KOVER, Auteur ; Andrea S. MCDUFFIE, Auteur ; Randi J. HAGERMAN, Auteur ; Leonard ABBEDUTO, Auteur . - p.2696-2709.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 43-11 (November 2013) . - p.2696-2709
Mots-clés : Autism Language development Comprehension Production Vocabulary Trajectory Index. décimale : PER Périodiques Résumé : In light of evidence that receptive language may be a relative weakness for individuals with autism spectrum disorder (ASD), this study characterized receptive vocabulary profiles in boys with ASD using cross-sectional developmental trajectories relative to age, nonverbal cognition, and expressive vocabulary. Participants were 49 boys with ASD (4–11 years) and 80 typically developing boys (2–11 years). Receptive vocabulary, assessed with the Peabody Picture Vocabulary Test, was a weakness for boys with ASD relative to age and nonverbal cognition. Relative to expressive vocabulary, assessed with the Expressive Vocabulary Test, receptive vocabulary increased at a lower rate for boys with ASD. Vocabulary trajectories in ASD are distinguished from typical development; however, nonverbal cognition largely accounts for the patterns observed. En ligne : http://dx.doi.org/10.1007/s10803-013-1823-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=217 Screening for Fragile X Syndrome Among Filipino Children with Autism Spectrum Disorder / Angel Belle C. DY in Journal of Autism and Developmental Disorders, 53-11 (November 2023)
[article]
Titre : Screening for Fragile X Syndrome Among Filipino Children with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Angel Belle C. DY, Auteur ; Lourdes Bernadette S. TANCHANCO, Auteur ; Jenica Clarisse Y. SY, Auteur ; Myla Dominicina LEVANTINO, Auteur ; Randi J. HAGERMAN, Auteur Article en page(s) : p.4465-4473 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Individuals with autism spectrum disorder present with difficulties in social communication, restricted interests or behaviors and other co-morbidities. About 2 to 10% of cases of autism have a genetic cause, and Fragile X Syndrome (FXS) is reported in 0 to 6.5% of individuals with autism. However, the FXS and premutation prevalence among Filipino children has never been reported. The aim of the study was to establish the presence of FXS or premutation carriers among Filipino children with autism and to describe the phenotypic characteristic of cases identified. Blood was collected from 235 children aged 2-6 years old and diagnosed with autism. Samples were analyzed using PCR methods to amplify CGG repeats in the FMRI gene. The diagnosis of autism was confirmed through the Autism Diagnostic Observation Schedule-2. Additional characteristics were documented from a physical examination, Griffiths Scales of Child Development assessment and a parent-answered questionnaire using the Vineland Adaptive Behavior Scale. Fragile X testing through PCR methods in 235 children with diagnosed autism showed 220 (93.6%) were negative, no full mutations, 1 (0.436%) premutation carrier and 14 (5.95%) cases contained intermediate alleles. The FXS testing was limited to confirmed cases of autism, which is considered a high-risk group and does not provide prevalence for the general Filipino population. Subjects were self-referred or referred by clinicians, which may not represent the Filipino autism population with a bias towards those with means for clinical consultations and ability to travel to the place of testing. Samples were not measured for mosaicism, DNA methylation or AGG interspersion patterns. These may have effects on the CGG repeat expansion and overall presentation of FXS. Findings from a single premutation carrier cannot characterize features distinctly present in Filipinos with the mutation. Nevertheless, these results support the data that the prevalence of FXS in Asian populations may be lower than non-Asian populations. This can contribute to a better understanding of FXS and genetic causes of autism in the Philippines and other Asian populations. En ligne : https://doi.org/10.1007/s10803-022-05707-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=512
in Journal of Autism and Developmental Disorders > 53-11 (November 2023) . - p.4465-4473[article] Screening for Fragile X Syndrome Among Filipino Children with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Angel Belle C. DY, Auteur ; Lourdes Bernadette S. TANCHANCO, Auteur ; Jenica Clarisse Y. SY, Auteur ; Myla Dominicina LEVANTINO, Auteur ; Randi J. HAGERMAN, Auteur . - p.4465-4473.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 53-11 (November 2023) . - p.4465-4473
Index. décimale : PER Périodiques Résumé : Individuals with autism spectrum disorder present with difficulties in social communication, restricted interests or behaviors and other co-morbidities. About 2 to 10% of cases of autism have a genetic cause, and Fragile X Syndrome (FXS) is reported in 0 to 6.5% of individuals with autism. However, the FXS and premutation prevalence among Filipino children has never been reported. The aim of the study was to establish the presence of FXS or premutation carriers among Filipino children with autism and to describe the phenotypic characteristic of cases identified. Blood was collected from 235 children aged 2-6 years old and diagnosed with autism. Samples were analyzed using PCR methods to amplify CGG repeats in the FMRI gene. The diagnosis of autism was confirmed through the Autism Diagnostic Observation Schedule-2. Additional characteristics were documented from a physical examination, Griffiths Scales of Child Development assessment and a parent-answered questionnaire using the Vineland Adaptive Behavior Scale. Fragile X testing through PCR methods in 235 children with diagnosed autism showed 220 (93.6%) were negative, no full mutations, 1 (0.436%) premutation carrier and 14 (5.95%) cases contained intermediate alleles. The FXS testing was limited to confirmed cases of autism, which is considered a high-risk group and does not provide prevalence for the general Filipino population. Subjects were self-referred or referred by clinicians, which may not represent the Filipino autism population with a bias towards those with means for clinical consultations and ability to travel to the place of testing. Samples were not measured for mosaicism, DNA methylation or AGG interspersion patterns. These may have effects on the CGG repeat expansion and overall presentation of FXS. Findings from a single premutation carrier cannot characterize features distinctly present in Filipinos with the mutation. Nevertheless, these results support the data that the prevalence of FXS in Asian populations may be lower than non-Asian populations. This can contribute to a better understanding of FXS and genetic causes of autism in the Philippines and other Asian populations. En ligne : https://doi.org/10.1007/s10803-022-05707-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=512 Sertraline May Improve Language Developmental Trajectory in Young Children with Fragile X Syndrome: A Retrospective Chart Review / Tri Indah WINARNI in Autism Research and Treatment, (March 2012)
PermalinkA solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome / D. HESSL in Journal of Neurodevelopmental Disorders, 1-1 (March 2009)
PermalinkSymptoms of Autism in Males with Fragile X Syndrome: A Comparison to Nonsyndromic ASD Using Current ADI-R Scores / Andrea MCDUFFIE in Journal of Autism and Developmental Disorders, 45-7 (July 2015)
PermalinkTargeted treatments in autism and fragile X syndrome / Kağan GURKAN C. in Research in Autism Spectrum Disorders, 6-4 (October-December 2012)
PermalinkThe Fragile X Syndrome / Edward GOLDSON in Developmental Medicine & Child Neurology, 34-9 (September 1992)
PermalinkUse of Emotional Cues for Lexical Learning: A Comparison of Autism Spectrum Disorder and Fragile X Syndrome / Angela John THURMAN in Journal of Autism and Developmental Disorders, 45-4 (April 2015)
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