Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications / Jennifer M. BAIN in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications Type de document : texte imprimé Auteurs : Jennifer M. BAIN, Auteur ; LeeAnne Green SNYDER, Auteur ; Katherine L. HELBIG, Auteur ; Dominique D. COOPER, Auteur ; Wendy K. CHUNG, Auteur ; Kimberly GOODSPEED, Auteur Langues : Anglais (eng) Mots-clés : Autistic Disorder  Epilepsy/genetics  GABA Plasma Membrane Transport Proteins/genetics  Humans  Neurodevelopmental Disorders/genetics  Parents  Autism  Epilepsy  Genetic  Hypotonia  Intellectual disability  Movement disorder  Neurodevelopmental disorder  SLC6A1  salary support for research from Simons Searchlight. The other authors declare  that they have no conflict of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: SLC6A1-related disorder is a recently identified, rare, genetic neurodevelopmental disorder that is associated with loss-of-function variants in SLC6A1. This gene encodes GABA transporter type I that is responsible for re-uptake of GABA from the synapse into the pre-synaptic terminal or circulating neuroglia. Based upon retrospective review of published cases and available research databases including Epi25 collective and SLC6A1 Connect patient database, the phenotypic spectrum is broad and includes developmental delay, epilepsy, and autism or autistic traits. SLC6A1 is one of the genes included in the Simons Searchlight registry, which includes standardized data collection across genetically identified neurodevelopmental conditions. METHODS: In this study, we compare parent-report measures of phenotypic features in the Simons Searchlight registry to previously published, provider-reported cases to assess if parent-report measures are consistent with what has been reported in the literature. RESULTS: There were 116 participants in the provider-reported dataset compared to 43 individuals in the caregiver-reported dataset. Carriers in Searchlight had 83 unique pathogenic or likely pathogenic variants in SLC6A1, which were predominantly missense or nonsense variants. There was no significant difference between groups for the prevalence of developmental delay, ASD, or ADHD. Caregivers more often reported hypotonia, while epilepsy was slightly more frequently reported by providers. CONCLUSIONS: We propose that standardized parent-report data collection methods are consistent with provider reports on many core features of SLC6A1-related disorder. The availability of patient registries and standardized natural history studies may fill an important need in clinical trial readiness programs, with larger sample sizes than smaller published case series. En ligne : https://dx.doi.org/10.1186/s11689-022-09449-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications [texte imprimé] / Jennifer M. BAIN, Auteur ; LeeAnne Green SNYDER, Auteur ; Katherine L. HELBIG, Auteur ; Dominique D. COOPER, Auteur ; Wendy K. CHUNG, Auteur ; Kimberly GOODSPEED, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Autistic Disorder  Epilepsy/genetics  GABA Plasma Membrane Transport Proteins/genetics  Humans  Neurodevelopmental Disorders/genetics  Parents  Autism  Epilepsy  Genetic  Hypotonia  Intellectual disability  Movement disorder  Neurodevelopmental disorder  SLC6A1  salary support for research from Simons Searchlight. The other authors declare  that they have no conflict of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: SLC6A1-related disorder is a recently identified, rare, genetic neurodevelopmental disorder that is associated with loss-of-function variants in SLC6A1. This gene encodes GABA transporter type I that is responsible for re-uptake of GABA from the synapse into the pre-synaptic terminal or circulating neuroglia. Based upon retrospective review of published cases and available research databases including Epi25 collective and SLC6A1 Connect patient database, the phenotypic spectrum is broad and includes developmental delay, epilepsy, and autism or autistic traits. SLC6A1 is one of the genes included in the Simons Searchlight registry, which includes standardized data collection across genetically identified neurodevelopmental conditions. METHODS: In this study, we compare parent-report measures of phenotypic features in the Simons Searchlight registry to previously published, provider-reported cases to assess if parent-report measures are consistent with what has been reported in the literature. RESULTS: There were 116 participants in the provider-reported dataset compared to 43 individuals in the caregiver-reported dataset. Carriers in Searchlight had 83 unique pathogenic or likely pathogenic variants in SLC6A1, which were predominantly missense or nonsense variants. There was no significant difference between groups for the prevalence of developmental delay, ASD, or ADHD. Caregivers more often reported hypotonia, while epilepsy was slightly more frequently reported by providers. CONCLUSIONS: We propose that standardized parent-report data collection methods are consistent with provider reports on many core features of SLC6A1-related disorder. The availability of patient registries and standardized natural history studies may fill an important need in clinical trial readiness programs, with larger sample sizes than smaller published case series. En ligne : https://dx.doi.org/10.1186/s11689-022-09449-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Gastrointestinal symptoms have a non-temporal association with regression in a cohort with autism spectrum disorder using the simons simplex collection / Adriana BAGOS-ESTEVEZ ; LeeAnne GREEN SNYDER ; Athanasios TSALATSANIS ; Amelia BOEHME ; Jennifer M. BAIN in Research in Autism Spectrum Disorders, 111 (March 2024)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 111 (March 2024) . - p.102326 Titre : Gastrointestinal symptoms have a non-temporal association with regression in a cohort with autism spectrum disorder using the simons simplex collection Type de document : texte imprimé Auteurs : Adriana BAGOS-ESTEVEZ, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Athanasios TSALATSANIS, Auteur ; Amelia BOEHME, Auteur ; Jennifer M. BAIN, Auteur Article en page(s) : p.102326 Mots-clés : Gastrointestinal  Autism  Spectrum  Regression  Loss Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) can present with developmental regression. In this study, we hypothesize an association between Gastrointestinal (GI) symptoms and regression. We conducted a two-part analysis using data from the Simon Simplex Collection consisting of 2564 ASD probands. Independent sample t-tests or chi-squared tests were utilized comparing regression against no-regression groups, and regression in children with and without early onset of GI symptoms. The presence of GI symptoms of any kind is associated with regression (odds ratio= 1.51; 95% CI 1.25 - 2.82; p < 0.001). Early GI effects on subsequent development of regression demonstrate no association (OR=0.81; 95% CI 0.649 1.01; p < 0.062). Although a clear relationship between GI symptoms and regression is demonstrated in this study, the lack of temporal relationship between the two highlight the need for a better understanding of the underlying mechanism behind this phenomenon. En ligne : https://doi.org/10.1016/j.rasd.2024.102326 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=521 [article] Gastrointestinal symptoms have a non-temporal association with regression in a cohort with autism spectrum disorder using the simons simplex collection [texte imprimé] / Adriana BAGOS-ESTEVEZ, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Athanasios TSALATSANIS, Auteur ; Amelia BOEHME, Auteur ; Jennifer M. BAIN, Auteur . - p.102326. in Research in Autism Spectrum Disorders > 111 (March 2024) . - p.102326 Mots-clés : Gastrointestinal  Autism  Spectrum  Regression  Loss Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) can present with developmental regression. In this study, we hypothesize an association between Gastrointestinal (GI) symptoms and regression. We conducted a two-part analysis using data from the Simon Simplex Collection consisting of 2564 ASD probands. Independent sample t-tests or chi-squared tests were utilized comparing regression against no-regression groups, and regression in children with and without early onset of GI symptoms. The presence of GI symptoms of any kind is associated with regression (odds ratio= 1.51; 95% CI 1.25 - 2.82; p < 0.001). Early GI effects on subsequent development of regression demonstrate no association (OR=0.81; 95% CI 0.649 1.01; p < 0.062). Although a clear relationship between GI symptoms and regression is demonstrated in this study, the lack of temporal relationship between the two highlight the need for a better understanding of the underlying mechanism behind this phenomenon. En ligne : https://doi.org/10.1016/j.rasd.2024.102326 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=521

How has DSM-5 Affected Autism Diagnosis? A 5-Year Follow-Up Systematic Literature Review and Meta-analysis / Kristine M. KULAGE in Journal of Autism and Developmental Disorders, 50-6 (June 2020)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 50-6 (June 2020) . - p.2102-2127 Titre : How has DSM-5 Affected Autism Diagnosis? A 5-Year Follow-Up Systematic Literature Review and Meta-analysis Type de document : texte imprimé Auteurs : Kristine M. KULAGE, Auteur ; Johanna GOLDBERG, Auteur ; John USSEGLIO, Auteur ; Danielle ROMERO, Auteur ; Jennifer M. BAIN, Auteur ; Arlene M. SMALDONE, Auteur Article en page(s) : p.2102-2127 Langues : Anglais (eng) Mots-clés : Asperger’s Disorder  Autism Spectrum Disorder  Dsm-5  Diagnosis  Pdd-nos  Social Communication Disorder Index. décimale : PER Périodiques Résumé : We conducted a 5-year follow-up systematic review and meta-analysis to determine change in frequency of autism spectrum disorder (ASD) diagnosis since diagnostic and statistical manual 5 (DSM-5) publication and explore the impact of Social Communication Disorder (SCD). For 33 included studies, use of DSM-5 criteria suggests decreases in diagnosis for ASD [20.8% (16.0-26.7), p < 0.001], DSM-IV-TR Autistic Disorder [10.1% (6.2-16.0), p < 0.001], and Asperger's [23.3% (12.9-38.5), p = 0.001]; pervasive developmental disorder-not otherwise specified decrease was not significant [46.1% (34.6-58.0), p = 0.52]. Less than one-third [28.8% (13.9-50.5), p = 0.06] of individuals diagnosed with DSM-IV-TR but not DSM-5 ASD would qualify for SCD. Findings suggest smaller decreases in ASD diagnoses compared to earlier reviews. Future research is needed as concerns remain for impaired individuals without a diagnosis. En ligne : http://dx.doi.org/10.1007/s10803-019-03967-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=425 [article] How has DSM-5 Affected Autism Diagnosis? A 5-Year Follow-Up Systematic Literature Review and Meta-analysis [texte imprimé] / Kristine M. KULAGE, Auteur ; Johanna GOLDBERG, Auteur ; John USSEGLIO, Auteur ; Danielle ROMERO, Auteur ; Jennifer M. BAIN, Auteur ; Arlene M. SMALDONE, Auteur . - p.2102-2127. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 50-6 (June 2020) . - p.2102-2127 Mots-clés : Asperger’s Disorder  Autism Spectrum Disorder  Dsm-5  Diagnosis  Pdd-nos  Social Communication Disorder Index. décimale : PER Périodiques Résumé : We conducted a 5-year follow-up systematic review and meta-analysis to determine change in frequency of autism spectrum disorder (ASD) diagnosis since diagnostic and statistical manual 5 (DSM-5) publication and explore the impact of Social Communication Disorder (SCD). For 33 included studies, use of DSM-5 criteria suggests decreases in diagnosis for ASD [20.8% (16.0-26.7), p < 0.001], DSM-IV-TR Autistic Disorder [10.1% (6.2-16.0), p < 0.001], and Asperger's [23.3% (12.9-38.5), p = 0.001]; pervasive developmental disorder-not otherwise specified decrease was not significant [46.1% (34.6-58.0), p = 0.52]. Less than one-third [28.8% (13.9-50.5), p = 0.06] of individuals diagnosed with DSM-IV-TR but not DSM-5 ASD would qualify for SCD. Findings suggest smaller decreases in ASD diagnoses compared to earlier reviews. Future research is needed as concerns remain for impaired individuals without a diagnosis. En ligne : http://dx.doi.org/10.1007/s10803-019-03967-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=425

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