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

Public ISBD [article]  inMolecular Autism > 9 (2018) . - 31p. 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 [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

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

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring Type de document : texte imprimé Auteurs : Reymundo LOZANO, Auteur ; Catherine GBEKIE, Auteur ; Paige M. SIPER, Auteur ; Shubhika SRIVASTAVA, Auteur ; Jeffrey M. SALAND, Auteur ; Swathi SETHURAM, Auteur ; Lara TANG, Auteur ; Elodie DRAPEAU, Auteur ; Yitzchak FRANK, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  Forkhead Transcription Factors  Humans  In Situ Hybridization, Fluorescence  Intellectual Disability  Repressor Proteins  Asd  Autism spectrum disorder  Foxp1  FOXP1 syndrome  Forkhead box protein 1  Acadia, Ritrova, and Alkermes. The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of many organ systems, including the brain. Numerous clinical studies have elucidated the role of FOXP1 in neurodevelopment and have characterized a phenotype. FOXP1 syndrome is associated with intellectual disability, language deficits, autism spectrum disorder, hypotonia, and congenital anomalies, including mild dysmorphic features, and brain, cardiac, and urogenital abnormalities. Here, we present a review of human studies summarizing the clinical features of individuals with FOXP1 syndrome and enlist a multidisciplinary group of clinicians (pediatrics, genetics, psychiatry, neurology, cardiology, endocrinology, nephrology, and psychology) to provide recommendations for the assessment of FOXP1 syndrome. En ligne : https://dx.doi.org/10.1186/s11689-021-09358-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring [texte imprimé] / Reymundo LOZANO, Auteur ; Catherine GBEKIE, Auteur ; Paige M. SIPER, Auteur ; Shubhika SRIVASTAVA, Auteur ; Jeffrey M. SALAND, Auteur ; Swathi SETHURAM, Auteur ; Lara TANG, Auteur ; Elodie DRAPEAU, Auteur ; Yitzchak FRANK, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder  Forkhead Transcription Factors  Humans  In Situ Hybridization, Fluorescence  Intellectual Disability  Repressor Proteins  Asd  Autism spectrum disorder  Foxp1  FOXP1 syndrome  Forkhead box protein 1  Acadia, Ritrova, and Alkermes. The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of many organ systems, including the brain. Numerous clinical studies have elucidated the role of FOXP1 in neurodevelopment and have characterized a phenotype. FOXP1 syndrome is associated with intellectual disability, language deficits, autism spectrum disorder, hypotonia, and congenital anomalies, including mild dysmorphic features, and brain, cardiac, and urogenital abnormalities. Here, we present a review of human studies summarizing the clinical features of individuals with FOXP1 syndrome and enlist a multidisciplinary group of clinicians (pediatrics, genetics, psychiatry, neurology, cardiology, endocrinology, nephrology, and psychology) to provide recommendations for the assessment of FOXP1 syndrome. En ligne : https://dx.doi.org/10.1186/s11689-021-09358-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

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

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.27 Titre : Genomic studies in fragile X premutation carriers Type de document : texte imprimé Auteurs : Reymundo LOZANO, Auteur ; Randi J. HAGERMAN, Auteur ; Michael DUYZEND, Auteur ; Dejan B. BUDIMIROVIC, Auteur ; Evan E. EICHLER, Auteur ; Flora TASSONE, Auteur Article en page(s) : p.27 Langues : Anglais (eng) Mots-clés : Asd  Autism  FMR1 gene  Neurodevelopmental disorders  Neurological disorders  Premutation  Second hit Index. décimale : PER Périodiques Résumé : BACKGROUND: The FMR1 premutation is defined as having 55 to 200 CGG repeats in the 5' untranslated region of the fragile X mental retardation 1 gene (FMR1). The clinical involvement has been well characterized for fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI). The behavior/psychiatric and other neurological manifestations remain to be specified as well as the molecular mechanisms that will explain the phenotypic variability observed in individuals with the FMR1 premutation. METHODS: Here we describe a small pilot study of copy number variants (CNVs) in 56 participants with a premutation ranging from 55 to 192 repeats. The participants were divided into four different clinical groups for the analysis: those with behavioral problems but no autism spectrum disorder (ASD); those with ASD but without neurological problems; those with ASD and neurological problems including seizures; and those with neurological problems without ASD. RESULTS: We found 12 rare CNVs (eight duplications and four deletions) in 11 cases (19.6%) that were not found in approximately 8,000 controls. Three of them were at 10q26 and two at Xp22.3, with small areas of overlap. The CNVs were more commonly identified in individuals with neurological involvement and ASD. CONCLUSIONS: The frequencies were not statistically significant across the groups. There were no significant differences in the psychometric and behavior scores among all groups. Further studies are necessary to determine the frequency of second genetic hits in individuals with the FMR1 premutation; however, these preliminary results suggest that genomic studies can be useful in understanding the molecular etiology of clinical involvement in premutation carriers with ASD and neurological involvement. En ligne : http://dx.doi.org/10.1186/1866-1955-6-27 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] Genomic studies in fragile X premutation carriers [texte imprimé] / Reymundo LOZANO, Auteur ; Randi J. HAGERMAN, Auteur ; Michael DUYZEND, Auteur ; Dejan B. BUDIMIROVIC, Auteur ; Evan E. EICHLER, Auteur ; Flora TASSONE, Auteur . - p.27. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.27 Mots-clés : Asd  Autism  FMR1 gene  Neurodevelopmental disorders  Neurological disorders  Premutation  Second hit Index. décimale : PER Périodiques Résumé : BACKGROUND: The FMR1 premutation is defined as having 55 to 200 CGG repeats in the 5' untranslated region of the fragile X mental retardation 1 gene (FMR1). The clinical involvement has been well characterized for fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI). The behavior/psychiatric and other neurological manifestations remain to be specified as well as the molecular mechanisms that will explain the phenotypic variability observed in individuals with the FMR1 premutation. METHODS: Here we describe a small pilot study of copy number variants (CNVs) in 56 participants with a premutation ranging from 55 to 192 repeats. The participants were divided into four different clinical groups for the analysis: those with behavioral problems but no autism spectrum disorder (ASD); those with ASD but without neurological problems; those with ASD and neurological problems including seizures; and those with neurological problems without ASD. RESULTS: We found 12 rare CNVs (eight duplications and four deletions) in 11 cases (19.6%) that were not found in approximately 8,000 controls. Three of them were at 10q26 and two at Xp22.3, with small areas of overlap. The CNVs were more commonly identified in individuals with neurological involvement and ASD. CONCLUSIONS: The frequencies were not statistically significant across the groups. There were no significant differences in the psychometric and behavior scores among all groups. Further studies are necessary to determine the frequency of second genetic hits in individuals with the FMR1 premutation; however, these preliminary results suggest that genomic studies can be useful in understanding the molecular etiology of clinical involvement in premutation carriers with ASD and neurological involvement. En ligne : http://dx.doi.org/10.1186/1866-1955-6-27 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

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)  

Public ISBD [article]  inMolecular Autism > 12 (2021) . - 61 p. Titre : Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms Type de document : texte imprimé Auteurs : Maria Del Pilar TRELLES, Auteur ; Tess LEVY, Auteur ; Bonnie LERMAN, Auteur ; Paige SIPER, Auteur ; Reymundo LOZANO, Auteur ; Danielle B. HALPERN, Auteur ; Hugh WALKER, Auteur ; Jessica ZWEIFACH, Auteur ; Yitzchak FRANK, Auteur ; Jennifer H. FOSS-FEIG, Auteur ; Alexander KOLEVZON, Auteur ; Joseph D. BUXBAUM, Auteur Article en page(s) : 61 p. Langues : Anglais (eng) Mots-clés : Anxiety  Attention-deficit/hyperactivity disorder  Autism spectrum disorder  FOXP1 gene  FOXP1 syndrome  Intellectual disability  Neurodevelopment  Therapeutics, Acadia, Alkermes, Sema4, and Ritrova. PMS and Mount Sinai licensed the  Sensory Assessment for Neurodevelopmental Disorders (SAND) developed by PMS to  Stoelting, Co. No other competing interests to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: FOXP1 syndrome is an autosomal dominant neurodevelopmental disorder characterized by intellectual disability, developmental delay, speech and language delays, and externalizing behaviors. We previously evaluated nine children and adolescents with FOXP1 syndrome to better characterize its phenotype. We identified specific areas of interest to be further explored, namely autism spectrum disorder (ASD) and internalizing and externalizing behaviors. METHODS: Here, we assess a prospective cohort of additional 17 individuals to expand our initial analyses and focus on these areas of interest. An interdisciplinary group of clinicians evaluated neurodevelopmental, behavioral, and medical features in participants. We report results from this cohort both alone, and in combination with the previous cohort, where possible. RESULTS: Previous observations of intellectual disability, motor delays, and language deficits were confirmed. In addition, 24% of the cohort met criteria for ASD. Seventy-five percent of individuals met DSM-5 criteria for attention-deficit/hyperactivity disorder and 38% for an anxiety disorder. Repetitive behaviors were almost universally present (95%) even without a diagnosis of ASD. Sensory symptoms, in particular sensory seeking, were common. LIMITATIONS: As FOXP1 syndrome is a rare disorder, sample size is limited. CONCLUSIONS: These findings have important implications for the treatment and care of individuals with FOXP1 syndrome. Notably, standardized testing for ASD showed high sensitivity, but low specificity, when compared to expert consensus diagnosis. Furthermore, many individuals in our cohort who received diagnoses of attention-deficit/hyperactivity disorder or anxiety disorder were not being treated for these symptoms; therefore, our findings suggest that there may be immediate areas for improvements in treatment for some individuals. En ligne : http://dx.doi.org/10.1186/s13229-021-00469-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 [article] Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms [texte imprimé] / Maria Del Pilar TRELLES, Auteur ; Tess LEVY, Auteur ; Bonnie LERMAN, Auteur ; Paige SIPER, Auteur ; Reymundo LOZANO, Auteur ; Danielle B. HALPERN, Auteur ; Hugh WALKER, Auteur ; Jessica ZWEIFACH, Auteur ; Yitzchak FRANK, Auteur ; Jennifer H. FOSS-FEIG, Auteur ; Alexander KOLEVZON, Auteur ; Joseph D. BUXBAUM, Auteur . - 61 p. Langues : Anglais (eng) in Molecular Autism > 12 (2021) . - 61 p. Mots-clés : Anxiety  Attention-deficit/hyperactivity disorder  Autism spectrum disorder  FOXP1 gene  FOXP1 syndrome  Intellectual disability  Neurodevelopment  Therapeutics, Acadia, Alkermes, Sema4, and Ritrova. PMS and Mount Sinai licensed the  Sensory Assessment for Neurodevelopmental Disorders (SAND) developed by PMS to  Stoelting, Co. No other competing interests to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: FOXP1 syndrome is an autosomal dominant neurodevelopmental disorder characterized by intellectual disability, developmental delay, speech and language delays, and externalizing behaviors. We previously evaluated nine children and adolescents with FOXP1 syndrome to better characterize its phenotype. We identified specific areas of interest to be further explored, namely autism spectrum disorder (ASD) and internalizing and externalizing behaviors. METHODS: Here, we assess a prospective cohort of additional 17 individuals to expand our initial analyses and focus on these areas of interest. An interdisciplinary group of clinicians evaluated neurodevelopmental, behavioral, and medical features in participants. We report results from this cohort both alone, and in combination with the previous cohort, where possible. RESULTS: Previous observations of intellectual disability, motor delays, and language deficits were confirmed. In addition, 24% of the cohort met criteria for ASD. Seventy-five percent of individuals met DSM-5 criteria for attention-deficit/hyperactivity disorder and 38% for an anxiety disorder. Repetitive behaviors were almost universally present (95%) even without a diagnosis of ASD. Sensory symptoms, in particular sensory seeking, were common. LIMITATIONS: As FOXP1 syndrome is a rare disorder, sample size is limited. CONCLUSIONS: These findings have important implications for the treatment and care of individuals with FOXP1 syndrome. Notably, standardized testing for ASD showed high sensitivity, but low specificity, when compared to expert consensus diagnosis. Furthermore, many individuals in our cohort who received diagnoses of attention-deficit/hyperactivity disorder or anxiety disorder were not being treated for these symptoms; therefore, our findings suggest that there may be immediate areas for improvements in treatment for some individuals. En ligne : http://dx.doi.org/10.1186/s13229-021-00469-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459

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 A. LIGHTBODY ; Allan L. REISS ; Carol M. DELAHUNTY ; Randi J. HAGERMAN ; David HESSL ; Craig ERICKSON ; Gary FELDMAN ; Jonathan D. PICKER ; Ave M. LACHIEWICZ ; Holly K. HARRIS ; Amy N. ESLER ; Richard E. FRYE ; Patricia A. EVANS ; Mary Ann MORRIS ; Barbara HAAS-GIVLER ; Andrea L. GROPMAN ; Ryan S. UY ; Carie M. BUCHANAN ; Jean A. FRAZIER ; Stephanie M. MORRIS ; FORWARD CONSORTIUM 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.725-737 Titre : Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome Type de document : texte imprimé 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 A. LIGHTBODY, Auteur ; Allan L. REISS, Auteur ; Carol M. DELAHUNTY, Auteur ; Randi J. HAGERMAN, Auteur ; David HESSL, Auteur ; Craig ERICKSON, Auteur ; Gary FELDMAN, Auteur ; Jonathan D. PICKER, Auteur ; Ave M. LACHIEWICZ, Auteur ; Holly K. HARRIS, Auteur ; Amy N. ESLER, Auteur ; Richard E. FRYE, Auteur ; Patricia A. EVANS, Auteur ; Mary Ann MORRIS, Auteur ; Barbara HAAS-GIVLER, Auteur ; Andrea L. GROPMAN, Auteur ; Ryan S. UY, Auteur ; Carie M. 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 [article] Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome [texte imprimé] / 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 A. LIGHTBODY, Auteur ; Allan L. REISS, Auteur ; Carol M. DELAHUNTY, Auteur ; Randi J. HAGERMAN, Auteur ; David HESSL, Auteur ; Craig ERICKSON, Auteur ; Gary FELDMAN, Auteur ; Jonathan D. PICKER, Auteur ; Ave M. LACHIEWICZ, Auteur ; Holly K. HARRIS, Auteur ; Amy N. ESLER, Auteur ; Richard E. FRYE, Auteur ; Patricia A. EVANS, Auteur ; Mary Ann MORRIS, Auteur ; Barbara HAAS-GIVLER, Auteur ; Andrea L. GROPMAN, Auteur ; Ryan S. UY, Auteur ; Carie M. 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

Prospective and detailed behavioral phenotyping in DDX3X syndrome / Lara TANG in Molecular Autism, 12 (2021)  

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Prospective investigation of FOXP1 syndrome / Paige M. SIPER in Molecular Autism, 8 (2017)  

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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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