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

Delayed Milestones and Demographic Factors Relate to the Accuracy of Autism Screening in Females Using Spoken Language / Ashley KNIOLA in Journal of Autism and Developmental Disorders, 56-2 (February 2026)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 56-2 (February 2026) . - p.547-559 Titre : Delayed Milestones and Demographic Factors Relate to the Accuracy of Autism Screening in Females Using Spoken Language Type de document : texte imprimé Auteurs : Ashley KNIOLA, Auteur ; Natasha N. LUDWIG, Auteur ; Vini SINGH, Auteur ; Catherine BRADLEY, Auteur ; Laura CARPENTER, Auteur ; Emily F. DILLON, Auteur ; Stephen KANNE, Auteur ; So Hyun KIM, Auteur ; Julia PARISH-MORRIS, Auteur ; LeeAnne Green SNYDER, Auteur ; Ericka L. WODKA, Auteur ; Spark Consortium THE, Auteur Article en page(s) : p.547-559 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Examine how milestone development, demographics, and emotional/behavioral functioning predict autistic females meeting the cutoff on a commonly used Autism screening tool (Social Communication Questionnaire: SCQ). We hypothesized that autistic girls with fewer developmental delays, whose parents have lower education, or are Black or Multiracial would be less likely to meet the SCQ cutoff. Further, those with more symptoms of Withdrawal/Depression, Social Problems, Thought Problems, and Attention Problems on the (Child Behavioral Checklist: CBCL) would be more likely to screen positive. A subset of participants enrolled in a large national cohort (SPARK) were included (5,946 autistic females). A cutoff score on the SCQ of 11 was used to form groups: Meet (M: N = 5,186) and Not Meeting (NM: N = 760). Autistic girls who had delayed toileting and motor milestones and whose parents attained higher education were more likely to screen positive. Girls who scored within the clinical range on the CBCL Thought Problems and Attention Problems syndrome scales were more likely to screen positive. Race and reported symptoms on the Withdrawn/Depressed and Social Problems syndrome scales did not relate to screening status. Results further support the existing literature suggesting that autistic girls must present with more significant delays/symptoms to be screened and diagnosed with autism, which can could impact their access to early intervention services and future skill development. Future research should examine additional factors that specifically put females at a disadvantage for being accurately identified, particularly for those who are speaking and/or of average cognitive ability. En ligne : https://doi.org/10.1007/s10803-024-06579-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=580 [article] Delayed Milestones and Demographic Factors Relate to the Accuracy of Autism Screening in Females Using Spoken Language [texte imprimé] / Ashley KNIOLA, Auteur ; Natasha N. LUDWIG, Auteur ; Vini SINGH, Auteur ; Catherine BRADLEY, Auteur ; Laura CARPENTER, Auteur ; Emily F. DILLON, Auteur ; Stephen KANNE, Auteur ; So Hyun KIM, Auteur ; Julia PARISH-MORRIS, Auteur ; LeeAnne Green SNYDER, Auteur ; Ericka L. WODKA, Auteur ; Spark Consortium THE, Auteur . - p.547-559. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 56-2 (February 2026) . - p.547-559 Index. décimale : PER Périodiques Résumé : Examine how milestone development, demographics, and emotional/behavioral functioning predict autistic females meeting the cutoff on a commonly used Autism screening tool (Social Communication Questionnaire: SCQ). We hypothesized that autistic girls with fewer developmental delays, whose parents have lower education, or are Black or Multiracial would be less likely to meet the SCQ cutoff. Further, those with more symptoms of Withdrawal/Depression, Social Problems, Thought Problems, and Attention Problems on the (Child Behavioral Checklist: CBCL) would be more likely to screen positive. A subset of participants enrolled in a large national cohort (SPARK) were included (5,946 autistic females). A cutoff score on the SCQ of 11 was used to form groups: Meet (M: N = 5,186) and Not Meeting (NM: N = 760). Autistic girls who had delayed toileting and motor milestones and whose parents attained higher education were more likely to screen positive. Girls who scored within the clinical range on the CBCL Thought Problems and Attention Problems syndrome scales were more likely to screen positive. Race and reported symptoms on the Withdrawn/Depressed and Social Problems syndrome scales did not relate to screening status. Results further support the existing literature suggesting that autistic girls must present with more significant delays/symptoms to be screened and diagnosed with autism, which can could impact their access to early intervention services and future skill development. Future research should examine additional factors that specifically put females at a disadvantage for being accurately identified, particularly for those who are speaking and/or of average cognitive ability. En ligne : https://doi.org/10.1007/s10803-024-06579-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=580

Transgender and gender-diverse autistic adolescents are at elevated risk of depression / Joseph PEREIRA in Autism, 30-2 (February 2026)  

Public ISBD [article]  inAutism > 30-2 (February 2026) . - p.316-328 Titre : Transgender and gender-diverse autistic adolescents are at elevated risk of depression Type de document : texte imprimé Auteurs : Joseph PEREIRA, Auteur ; Natalia RAMOS, Auteur ; LeeAnne Green SNYDER, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Amandeep JUTLA, Auteur Article en page(s) : p.316-328 Langues : Anglais (eng) Mots-clés : autism  clinical  diagnoses  gender  topics Index. décimale : PER Périodiques Résumé : Autistic people are more likely to be transgender and gender diverse than the general population. Furthermore, co-occurring trait-level autism and transgender and gender-diverse identity are associated with symptoms of depression and anxiety, and autistic adolescents who identify as transgender and gender diverse have more internalizing behaviors than both non-transgender and gender-diverse autistic adolescents and non-autistic transgender and gender-diverse adolescents. However, no study has yet examined the extent to which transgender and gender-diverse identity predicts specific co-occurring mental health diagnoses in autistic adolescents. In a sample of 9027 autistic adolescents aged 13 to 17 drawn from the Simons Powering Autism Research for Knowledge cohort, 36 of whom we identified as transgender and gender diverse, we estimated univariate models of transgender and gender-diverse identity as a predictor of individual diagnoses. Depression, but no other diagnosis, remained statistically significant after adjustment for multiple comparisons. In a multiple regression model that incorporated known risk factors for adolescent depression (e.g. language impairment and disturbed sleep), transgender and gender-diverse identity remained a significant predictor (odds ratio: 4.01, 95% confidence interval: 1.87–8.67, p = 5.94 × 10−4) with an effect size at least as strong as that of a depression family history. This suggests transgender and gender-diverse autistic adolescents, who often face stigma and discrimination, are particularly vulnerable to depression.Lay abstract “Transgender and gender diverse” (TGD) people have gender identities that differ from the sex they were assigned at birth. Many autistic people have a TGD identity. Autistic adolescents who are TGD have more “internalizing symptoms,” which include symptoms of depression and anxiety, than autistic adolescents who are not TGD. In this study, we examined a group of 9027 autistic adolescents, 36 of whom had a TGD identity, to determine which, if any, mental health diagnoses would be associated with TGD identity, and whether those associations would remain even after accounting for known risk factors for a diagnosis. We found that depression, but no other diagnosis, was associated with TGD identity. This association remained even when accounting for known risk factors for depression, and in fact, TGD identity was associated with depression at least as strongly as a family history of that diagnosis. This strong association is perhaps not surprising. TGD adolescents often face stigma, social rejection, and discrimination, which can lead to depression. Autistic adolescents can face similar difficulties. Autistic youth who also have a TGD identity may therefore be at particular risk of developing depression. Our study highlights that providers who work with autistic youth in the community should be aware of this risk so they can identify and treat depression when it is present. Future studies should investigate the relationship between depression and TGD identity in autism further, to determine how providers and caregivers can support these youth. En ligne : https://dx.doi.org/10.1177/13623613251396712 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=578 [article] Transgender and gender-diverse autistic adolescents are at elevated risk of depression [texte imprimé] / Joseph PEREIRA, Auteur ; Natalia RAMOS, Auteur ; LeeAnne Green SNYDER, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Amandeep JUTLA, Auteur . - p.316-328. Langues : Anglais (eng) in Autism > 30-2 (February 2026) . - p.316-328 Mots-clés : autism  clinical  diagnoses  gender  topics Index. décimale : PER Périodiques Résumé : Autistic people are more likely to be transgender and gender diverse than the general population. Furthermore, co-occurring trait-level autism and transgender and gender-diverse identity are associated with symptoms of depression and anxiety, and autistic adolescents who identify as transgender and gender diverse have more internalizing behaviors than both non-transgender and gender-diverse autistic adolescents and non-autistic transgender and gender-diverse adolescents. However, no study has yet examined the extent to which transgender and gender-diverse identity predicts specific co-occurring mental health diagnoses in autistic adolescents. In a sample of 9027 autistic adolescents aged 13 to 17 drawn from the Simons Powering Autism Research for Knowledge cohort, 36 of whom we identified as transgender and gender diverse, we estimated univariate models of transgender and gender-diverse identity as a predictor of individual diagnoses. Depression, but no other diagnosis, remained statistically significant after adjustment for multiple comparisons. In a multiple regression model that incorporated known risk factors for adolescent depression (e.g. language impairment and disturbed sleep), transgender and gender-diverse identity remained a significant predictor (odds ratio: 4.01, 95% confidence interval: 1.87–8.67, p = 5.94 × 10−4) with an effect size at least as strong as that of a depression family history. This suggests transgender and gender-diverse autistic adolescents, who often face stigma and discrimination, are particularly vulnerable to depression.Lay abstract “Transgender and gender diverse” (TGD) people have gender identities that differ from the sex they were assigned at birth. Many autistic people have a TGD identity. Autistic adolescents who are TGD have more “internalizing symptoms,” which include symptoms of depression and anxiety, than autistic adolescents who are not TGD. In this study, we examined a group of 9027 autistic adolescents, 36 of whom had a TGD identity, to determine which, if any, mental health diagnoses would be associated with TGD identity, and whether those associations would remain even after accounting for known risk factors for a diagnosis. We found that depression, but no other diagnosis, was associated with TGD identity. This association remained even when accounting for known risk factors for depression, and in fact, TGD identity was associated with depression at least as strongly as a family history of that diagnosis. This strong association is perhaps not surprising. TGD adolescents often face stigma, social rejection, and discrimination, which can lead to depression. Autistic adolescents can face similar difficulties. Autistic youth who also have a TGD identity may therefore be at particular risk of developing depression. Our study highlights that providers who work with autistic youth in the community should be aware of this risk so they can identify and treat depression when it is present. Future studies should investigate the relationship between depression and TGD identity in autism further, to determine how providers and caregivers can support these youth. En ligne : https://dx.doi.org/10.1177/13623613251396712 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=578

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