Addressing Common Problems in Autism Research: Cohort Development and Sample Description for a Participatory, Real-World, Longitudinal Study of Outcomes in Autistic Adults / Christina NICOLAIDIS in Autism, 30-10 (October 2026)  

Public ISBD [article]  inAutism > 30-10 (October 2026) . - p.2628-2647 Titre : Addressing Common Problems in Autism Research: Cohort Development and Sample Description for a Participatory, Real-World, Longitudinal Study of Outcomes in Autistic Adults Type de document : texte imprimé Auteurs : Christina NICOLAIDIS, Auteur ; Ian MOURA, Auteur ; Mary BAKER-ERICZEN, Auteur ; Mirah SCHARER, Auteur ; Joelle MASLAK, Auteur ; Rachel KRIPKE-LUDWIG, Auteur ; Willi HORNER-JOHNSON, Auteur ; Julia LOVE, Auteur ; Dora M. RAYMAKER, Auteur ; Andrea JOYCE, Auteur ; Shannon DES ROCHES ROSA, Auteur ; Grace A. HERBERT, Auteur ; Julie Lounds TAYLOR, Auteur ; Liu-Qin YANG, Auteur ; Katherine MCDONALD, Auteur ; Zack SIDDEEK, Auteur ; Steven K. KAPP, Auteur ; Emanuel FROWNER, Auteur ; Ivanova SMITH, Auteur ; Anna Furra WALLINGTON, Auteur ; K.J. FLORES, Auteur ; Noah KAUFMAN, Auteur ; Clarissa KRIPKE, Auteur ; Joseph VERA, Auteur ; Vivian D. GRILLO, Auteur ; Finn GARDINER, Auteur Article en page(s) : p.2628-2647 Langues : Anglais (eng) Mots-clés : adults  populations  outcome measurement  methods  community based participatory research  participatory methods  longitudinal research  health services  contexts Index. décimale : PER Périodiques Résumé : Adult autism services research is plagued by methodological challenges, including difficulty obtaining representative or heterogeneous samples and a frequent mismatch between experimental methodologies and real-world settings. The Academic Autism Spectrum Partnership in Research and Education (AASPIRE) Outcomes Project used a community-based participatory research (CBPR) approach to (a) create the AASPIRE Measurement Toolkit – a set of self- and caregiver-reported accessible outcome measures to evaluate health and social services and (b) explore factors predicting changes in outcomes. We previously used a CBPR-nested Delphi process to identify high-priority outcomes and adapted or created instruments to measure them. We conducted a longitudinal survey to validate these measures in a pragmatic sample of autistic adults with subcohorts from two health care systems, two disability service systems, and the larger autistic community in the United States. This article (a) describes our study methods and the sample’s baseline characteristics and (b) compares characteristics among participants in the separate subcohorts and sites. We collected baseline data from 870 participants. Follow-up response rates were >80% for the second and third time points. The sample includes strong heterogeneity. As expected, sample characteristics differed markedly between the three subcohorts. Lessons from our experience may help other researchers devise strategies to effectively recruit heterogeneous samples of autistic adults across various settings.Lay Abstract There are many challenges that can get in the way of doing good research on autism in adulthood. Examples of these types of challenges include the following: (a) it can be hard to include autistic people with a wide range of characteristics in research studies and (b) traditional research may come up with results that do not really apply to people in the real world. Academic Autism Spectrum Partnership in Research and Education (AASPIRE) is a group of academics and autistic community members who work together as equal partners. We are creating the AASPIRE Measurement Toolkit, an accessible set of survey measures about the health and life outcomes most important to autistic adults. In an earlier part of the project, we worked together to create the measures in the Toolkit. Now we are doing a big survey study to test the new measures and look at what predicts changes in outcomes over time. This article describes our study methods and the characteristics of the people in the sample. It also compares basic information about people recruited to the study from different places, using different methods. We recruited 870 autistic adults from two health care centers (the health care subgroup); two disability services systems (the disability subgroup); and the broader autistic community. We collected data from each person three times over 12 to 18 months. Over 80% of study participants did the follow-up surveys. People in the study had a wide range of personal and disability-related characteristics. As we predicted, the three subgroups were really different from each other. Even the two sites within the subgroups were a bit different. This serves as a warning to researchers: results that come from people recruited from one setting may not apply to people in other settings. It also shows how using multiple different strategies at the same time can increase the diversity in study samples. En ligne : https://dx.doi.org/10.1177/13623613261476381 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=593 [article] Addressing Common Problems in Autism Research: Cohort Development and Sample Description for a Participatory, Real-World, Longitudinal Study of Outcomes in Autistic Adults [texte imprimé] / Christina NICOLAIDIS, Auteur ; Ian MOURA, Auteur ; Mary BAKER-ERICZEN, Auteur ; Mirah SCHARER, Auteur ; Joelle MASLAK, Auteur ; Rachel KRIPKE-LUDWIG, Auteur ; Willi HORNER-JOHNSON, Auteur ; Julia LOVE, Auteur ; Dora M. RAYMAKER, Auteur ; Andrea JOYCE, Auteur ; Shannon DES ROCHES ROSA, Auteur ; Grace A. HERBERT, Auteur ; Julie Lounds TAYLOR, Auteur ; Liu-Qin YANG, Auteur ; Katherine MCDONALD, Auteur ; Zack SIDDEEK, Auteur ; Steven K. KAPP, Auteur ; Emanuel FROWNER, Auteur ; Ivanova SMITH, Auteur ; Anna Furra WALLINGTON, Auteur ; K.J. FLORES, Auteur ; Noah KAUFMAN, Auteur ; Clarissa KRIPKE, Auteur ; Joseph VERA, Auteur ; Vivian D. GRILLO, Auteur ; Finn GARDINER, Auteur . - p.2628-2647. Langues : Anglais (eng) in Autism > 30-10 (October 2026) . - p.2628-2647 Mots-clés : adults  populations  outcome measurement  methods  community based participatory research  participatory methods  longitudinal research  health services  contexts Index. décimale : PER Périodiques Résumé : Adult autism services research is plagued by methodological challenges, including difficulty obtaining representative or heterogeneous samples and a frequent mismatch between experimental methodologies and real-world settings. The Academic Autism Spectrum Partnership in Research and Education (AASPIRE) Outcomes Project used a community-based participatory research (CBPR) approach to (a) create the AASPIRE Measurement Toolkit – a set of self- and caregiver-reported accessible outcome measures to evaluate health and social services and (b) explore factors predicting changes in outcomes. We previously used a CBPR-nested Delphi process to identify high-priority outcomes and adapted or created instruments to measure them. We conducted a longitudinal survey to validate these measures in a pragmatic sample of autistic adults with subcohorts from two health care systems, two disability service systems, and the larger autistic community in the United States. This article (a) describes our study methods and the sample’s baseline characteristics and (b) compares characteristics among participants in the separate subcohorts and sites. We collected baseline data from 870 participants. Follow-up response rates were >80% for the second and third time points. The sample includes strong heterogeneity. As expected, sample characteristics differed markedly between the three subcohorts. Lessons from our experience may help other researchers devise strategies to effectively recruit heterogeneous samples of autistic adults across various settings.Lay Abstract There are many challenges that can get in the way of doing good research on autism in adulthood. Examples of these types of challenges include the following: (a) it can be hard to include autistic people with a wide range of characteristics in research studies and (b) traditional research may come up with results that do not really apply to people in the real world. Academic Autism Spectrum Partnership in Research and Education (AASPIRE) is a group of academics and autistic community members who work together as equal partners. We are creating the AASPIRE Measurement Toolkit, an accessible set of survey measures about the health and life outcomes most important to autistic adults. In an earlier part of the project, we worked together to create the measures in the Toolkit. Now we are doing a big survey study to test the new measures and look at what predicts changes in outcomes over time. This article describes our study methods and the characteristics of the people in the sample. It also compares basic information about people recruited to the study from different places, using different methods. We recruited 870 autistic adults from two health care centers (the health care subgroup); two disability services systems (the disability subgroup); and the broader autistic community. We collected data from each person three times over 12 to 18 months. Over 80% of study participants did the follow-up surveys. People in the study had a wide range of personal and disability-related characteristics. As we predicted, the three subgroups were really different from each other. Even the two sites within the subgroups were a bit different. This serves as a warning to researchers: results that come from people recruited from one setting may not apply to people in other settings. It also shows how using multiple different strategies at the same time can increase the diversity in study samples. En ligne : https://dx.doi.org/10.1177/13623613261476381 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=593

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

Public ISBD [article]  inMolecular Autism > 12 (2021) . - 36 p. Titre : Prospective and detailed behavioral phenotyping in DDX3X syndrome Type de document : texte imprimé Auteurs : Lara TANG, Auteur ; Tess LEVY, Auteur ; Sylvia B. GUILLORY, Auteur ; Danielle B. HALPERN, Auteur ; Jessica ZWEIFACH, Auteur ; Ivy GISERMAN-KISS, Auteur ; Jennifer H. FOSS-FEIG, Auteur ; Yitzchak FRANK, Auteur ; Reymundo LOZANO, Auteur ; Puneet BELANI, Auteur ; Christina LAYTON, Auteur ; Bonnie LERMAN, Auteur ; Emanuel FROWNER, Auteur ; Michael S. BREEN, Auteur ; Silvia DE RUBEIS, Auteur ; Ana KOSTIC, Auteur ; Alexander KOLEVZON, Auteur ; Joseph D. BUXBAUM, Auteur ; Paige M. SIPER, Auteur ; Dorothy E. GRICE, Auteur Article en page(s) : 36 p. Langues : Anglais (eng) Mots-clés : Autism  DDX3X syndrome  Developmental delay  Genotype–phenotype correlation  Intellectual disability  Therapeutics, Acadia, and Sema4. PMS is the inventor of the SAND, which is licensed  by Mount Sinai to Stoelting Co. No other competing interests to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: DDX3X syndrome is a recently identified genetic disorder that accounts for 1-3% of cases of unexplained developmental delay and/or intellectual disability (ID) in females, and is associated with motor and language delays, and autism spectrum disorder (ASD). To date, the published phenotypic characterization of this syndrome has primarily relied on medical record review; in addition, the behavioral dimensions of the syndrome have not been fully explored. METHODS: We carried out multi-day, prospective, detailed phenotyping of DDX3X syndrome in 14 females and 1 male, focusing on behavioral, psychological, and neurological measures. Three participants in this cohort were previously reported with limited phenotype information and were re-evaluated for this study. We compared results against population norms and contrasted phenotypes between individuals harboring either (1) protein-truncating variants or (2) missense variants or in-frame deletions. RESULTS: Eighty percent (80%) of individuals met criteria for ID, 60% for ASD and 53% for attention-deficit/hyperactivity disorder (ADHD). Motor and language delays were common as were sensory processing abnormalities. The cohort included 5 missense, 3 intronic/splice-site, 2 nonsense, 2 frameshift, 2 in-frame deletions, and one initiation codon variant. Genotype-phenotype correlations indicated that, on average, missense variants/in-frame deletions were associated with more severe language, motor, and adaptive deficits in comparison to protein-truncating variants. LIMITATIONS: Sample size is modest, however, DDX3X syndrome is a rare and underdiagnosed disorder. CONCLUSION: This study, representing a first, prospective, detailed characterization of DDX3X syndrome, extends our understanding of the neurobehavioral phenotype. Gold-standard diagnostic approaches demonstrated high rates of ID, ASD, and ADHD. In addition, sensory deficits were observed to be a key part of the syndrome. Even with a modest sample, we observe evidence for genotype-phenotype correlations with missense variants/in-frame deletions generally associated with more severe phenotypes. En ligne : http://dx.doi.org/10.1186/s13229-021-00431-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 [article] Prospective and detailed behavioral phenotyping in DDX3X syndrome [texte imprimé] / Lara TANG, Auteur ; Tess LEVY, Auteur ; Sylvia B. GUILLORY, Auteur ; Danielle B. HALPERN, Auteur ; Jessica ZWEIFACH, Auteur ; Ivy GISERMAN-KISS, Auteur ; Jennifer H. FOSS-FEIG, Auteur ; Yitzchak FRANK, Auteur ; Reymundo LOZANO, Auteur ; Puneet BELANI, Auteur ; Christina LAYTON, Auteur ; Bonnie LERMAN, Auteur ; Emanuel FROWNER, Auteur ; Michael S. BREEN, Auteur ; Silvia DE RUBEIS, Auteur ; Ana KOSTIC, Auteur ; Alexander KOLEVZON, Auteur ; Joseph D. BUXBAUM, Auteur ; Paige M. SIPER, Auteur ; Dorothy E. GRICE, Auteur . - 36 p. Langues : Anglais (eng) in Molecular Autism > 12 (2021) . - 36 p. Mots-clés : Autism  DDX3X syndrome  Developmental delay  Genotype–phenotype correlation  Intellectual disability  Therapeutics, Acadia, and Sema4. PMS is the inventor of the SAND, which is licensed  by Mount Sinai to Stoelting Co. No other competing interests to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: DDX3X syndrome is a recently identified genetic disorder that accounts for 1-3% of cases of unexplained developmental delay and/or intellectual disability (ID) in females, and is associated with motor and language delays, and autism spectrum disorder (ASD). To date, the published phenotypic characterization of this syndrome has primarily relied on medical record review; in addition, the behavioral dimensions of the syndrome have not been fully explored. METHODS: We carried out multi-day, prospective, detailed phenotyping of DDX3X syndrome in 14 females and 1 male, focusing on behavioral, psychological, and neurological measures. Three participants in this cohort were previously reported with limited phenotype information and were re-evaluated for this study. We compared results against population norms and contrasted phenotypes between individuals harboring either (1) protein-truncating variants or (2) missense variants or in-frame deletions. RESULTS: Eighty percent (80%) of individuals met criteria for ID, 60% for ASD and 53% for attention-deficit/hyperactivity disorder (ADHD). Motor and language delays were common as were sensory processing abnormalities. The cohort included 5 missense, 3 intronic/splice-site, 2 nonsense, 2 frameshift, 2 in-frame deletions, and one initiation codon variant. Genotype-phenotype correlations indicated that, on average, missense variants/in-frame deletions were associated with more severe language, motor, and adaptive deficits in comparison to protein-truncating variants. LIMITATIONS: Sample size is modest, however, DDX3X syndrome is a rare and underdiagnosed disorder. CONCLUSION: This study, representing a first, prospective, detailed characterization of DDX3X syndrome, extends our understanding of the neurobehavioral phenotype. Gold-standard diagnostic approaches demonstrated high rates of ID, ASD, and ADHD. In addition, sensory deficits were observed to be a key part of the syndrome. Even with a modest sample, we observe evidence for genotype-phenotype correlations with missense variants/in-frame deletions generally associated with more severe phenotypes. En ligne : http://dx.doi.org/10.1186/s13229-021-00431-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459

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