Pub Date : 2022-01-01Epub Date: 2022-08-19DOI: 10.1016/bs.irrdd.2022.05.005
Anna J Esbensen, Emily K Schworer, Deborah J Fidler, Angela John Thurman
Individuals with Down syndrome (DS) are increasingly involved in clinical trials that target developmental outcomes, like cognition and behavior. The increased focus on treatment in DS has led to ongoing discussions regarding the selection of outcome measures using syndrome-informed criteria. This discourse is warranted as clinical trials can fail if the outcome measures selected are inappropriate for individuals with DS or do not take into account the behavioral phenotype commonly associated with DS. This review focuses on the challenges present in the measurement of outcomes in DS, with a specific focus on considerations made in evaluating cognitive, language, and behavioral/psychopathology outcomes. This review also provides a summary of recommendations for assessment of outcomes in these domains as well as recommendations for future research. The impact of physical health and assessment psychometrics on the measurement of outcomes is also reviewed.
{"title":"Considerations for measuring individual outcomes across contexts in Down syndrome: Implications for research and clinical trials.","authors":"Anna J Esbensen, Emily K Schworer, Deborah J Fidler, Angela John Thurman","doi":"10.1016/bs.irrdd.2022.05.005","DOIUrl":"10.1016/bs.irrdd.2022.05.005","url":null,"abstract":"<p><p>Individuals with Down syndrome (DS) are increasingly involved in clinical trials that target developmental outcomes, like cognition and behavior. The increased focus on treatment in DS has led to ongoing discussions regarding the selection of outcome measures using syndrome-informed criteria. This discourse is warranted as clinical trials can fail if the outcome measures selected are inappropriate for individuals with DS or do not take into account the behavioral phenotype commonly associated with DS. This review focuses on the challenges present in the measurement of outcomes in DS, with a specific focus on considerations made in evaluating cognitive, language, and behavioral/psychopathology outcomes. This review also provides a summary of recommendations for assessment of outcomes in these domains as well as recommendations for future research. The impact of physical health and assessment psychometrics on the measurement of outcomes is also reviewed.</p>","PeriodicalId":44571,"journal":{"name":"International Review of Research in Developmental Disabilities","volume":"62 ","pages":"191-225"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9536481/pdf/nihms-1802707.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10382177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The National Institutes of Health formulated the Outreach and Engagement Working Group in Fall of 2019 to support the objectives of the INCLUDE Project (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE). This Working Group consisted of a multi-disciplinary team of stakeholders in research on Down syndrome that met to discuss best practices for outreach and engagement to Down syndrome communities, with an emphasis on representation and diversity. This review and consensus paper describes the importance of increasing representation in DS research for future cohort building and summarizes the priority issues identified by the Working Group members. An overview of Working Group activities is then presented, followed by consensus recommendations and a discussion of future opportunities and challenges.
{"title":"Outreach and Engagement Efforts in Research on Down Syndrome: An NIH INCLUDE Working Group Consensus Statement.","authors":"Deborah J Fidler, Nathaniel Riggs, Anna J Esbensen, Colleen Jackson-Cook, Tracie Rosser, Annie Cohen","doi":"10.1016/bs.irrdd.2022.09.006","DOIUrl":"10.1016/bs.irrdd.2022.09.006","url":null,"abstract":"<p><p>The National Institutes of Health formulated the Outreach and Engagement Working Group in Fall of 2019 to support the objectives of the INCLUDE Project (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE). This Working Group consisted of a multi-disciplinary team of stakeholders in research on Down syndrome that met to discuss best practices for outreach and engagement to Down syndrome communities, with an emphasis on representation and diversity. This review and consensus paper describes the importance of increasing representation in DS research for future cohort building and summarizes the priority issues identified by the Working Group members. An overview of Working Group activities is then presented, followed by consensus recommendations and a discussion of future opportunities and challenges.</p>","PeriodicalId":44571,"journal":{"name":"International Review of Research in Developmental Disabilities","volume":"63 ","pages":"247-267"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9762205/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10426008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01Epub Date: 2022-07-21DOI: 10.1016/bs.irrdd.2022.05.006
Victoria Fleming, Christy L Hom, Isabel C H Clare, Shemaya L Hurd-Thomas, Sharon Krinsky-McHale, Benjamin Handen, Sigan L Hartley
Down syndrome (DS) is now viewed as a genetic type of Alzheimer's disease (AD), given the near-universal presence of AD pathology in middle adulthood and the elevated risk for developing clinical AD in DS. As the field of DS prepares for AD clinical intervention trials, there is a strong need to identify cognitive measures that are specific and sensitive to the transition from being cognitively stable to the prodromal (e.g., Mild Cognitive Impairment-Down syndrome) and clinical AD (e.g., Dementia) stages of the disease in DS. It is also important to determine cognitive measures that map onto biomarkers of early AD pathology during the transition from the preclinical to the prodromal stage of the disease, as this transition period is likely to be targeted and tracked in AD clinical trials. The present chapter discusses the current state of research on cognitive measures that could be used to screen/select study participants and as potential outcome measures in future AD clinical trials with adults with DS. In this chapter, we also identify key challenges that need to be overcome and questions that need to be addressed by the DS field as it prepares for AD clinical trials in the coming years.
{"title":"Cognitive outcome measures for tracking Alzheimer's disease in Down syndrome.","authors":"Victoria Fleming, Christy L Hom, Isabel C H Clare, Shemaya L Hurd-Thomas, Sharon Krinsky-McHale, Benjamin Handen, Sigan L Hartley","doi":"10.1016/bs.irrdd.2022.05.006","DOIUrl":"10.1016/bs.irrdd.2022.05.006","url":null,"abstract":"<p><p>Down syndrome (DS) is now viewed as a genetic type of Alzheimer's disease (AD), given the near-universal presence of AD pathology in middle adulthood and the elevated risk for developing clinical AD in DS. As the field of DS prepares for AD clinical intervention trials, there is a strong need to identify cognitive measures that are specific and sensitive to the transition from being cognitively stable to the prodromal (e.g., Mild Cognitive Impairment-Down syndrome) and clinical AD (e.g., Dementia) stages of the disease in DS. It is also important to determine cognitive measures that map onto biomarkers of early AD pathology during the transition from the preclinical to the prodromal stage of the disease, as this transition period is likely to be targeted and tracked in AD clinical trials. The present chapter discusses the current state of research on cognitive measures that could be used to screen/select study participants and as potential outcome measures in future AD clinical trials with adults with DS. In this chapter, we also identify key challenges that need to be overcome and questions that need to be addressed by the DS field as it prepares for AD clinical trials in the coming years.</p>","PeriodicalId":44571,"journal":{"name":"International Review of Research in Developmental Disabilities","volume":"62 ","pages":"227-263"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10312212/pdf/nihms-1910069.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9750431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.1016/s2211-6095(22)x0002-x
{"title":"Contemporary Issues in Evaluating Treatment Outcomes in Neurodevelopmental Disorders","authors":"","doi":"10.1016/s2211-6095(22)x0002-x","DOIUrl":"https://doi.org/10.1016/s2211-6095(22)x0002-x","url":null,"abstract":"","PeriodicalId":44571,"journal":{"name":"International Review of Research in Developmental Disabilities","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"56669547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-01DOI: 10.1016/bs.irrdd.2021.08.007
E. Casale, David Golann, E. LeMaster
{"title":"U.S. school principals and special education legal knowledge: A scoping review","authors":"E. Casale, David Golann, E. LeMaster","doi":"10.1016/bs.irrdd.2021.08.007","DOIUrl":"https://doi.org/10.1016/bs.irrdd.2021.08.007","url":null,"abstract":"","PeriodicalId":44571,"journal":{"name":"International Review of Research in Developmental Disabilities","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"54088754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-01DOI: 10.1016/bs.irrdd.2021.08.004
M. Prince, D. Fidler
{"title":"Analytic approaches to heterogeneity in neurogenetic syndrome research","authors":"M. Prince, D. Fidler","doi":"10.1016/bs.irrdd.2021.08.004","DOIUrl":"https://doi.org/10.1016/bs.irrdd.2021.08.004","url":null,"abstract":"","PeriodicalId":44571,"journal":{"name":"International Review of Research in Developmental Disabilities","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"54088638","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-01DOI: 10.1016/bs.irrdd.2021.08.003
C. Albaum, Victoria Chan, Teresa Sellitto, Nisha Vashi, R. Hastings, J. Weiss
{"title":"Redressing the balance: A systematic review of positive psychology in the intellectual disability literature","authors":"C. Albaum, Victoria Chan, Teresa Sellitto, Nisha Vashi, R. Hastings, J. Weiss","doi":"10.1016/bs.irrdd.2021.08.003","DOIUrl":"https://doi.org/10.1016/bs.irrdd.2021.08.003","url":null,"abstract":"","PeriodicalId":44571,"journal":{"name":"International Review of Research in Developmental Disabilities","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"54088602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-01DOI: 10.1016/bs.irrdd.2021.08.002
A. Needham, Eliza L. Nelson, A. D. Short, L. Daunhauer, D. Fidler
{"title":"The emergence of fine motor skills in children with Down syndrome","authors":"A. Needham, Eliza L. Nelson, A. D. Short, L. Daunhauer, D. Fidler","doi":"10.1016/bs.irrdd.2021.08.002","DOIUrl":"https://doi.org/10.1016/bs.irrdd.2021.08.002","url":null,"abstract":"","PeriodicalId":44571,"journal":{"name":"International Review of Research in Developmental Disabilities","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"54088538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-01DOI: 10.1016/s2211-6095(21)00031-2
{"title":"Series Page","authors":"","doi":"10.1016/s2211-6095(21)00031-2","DOIUrl":"https://doi.org/10.1016/s2211-6095(21)00031-2","url":null,"abstract":"","PeriodicalId":44571,"journal":{"name":"International Review of Research in Developmental Disabilities","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"56669059","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-01DOI: 10.1016/s2211-6095(21)x0003-6
{"title":"Prevention Science and Research in Intellectual and Developmental Disabilities","authors":"","doi":"10.1016/s2211-6095(21)x0003-6","DOIUrl":"https://doi.org/10.1016/s2211-6095(21)x0003-6","url":null,"abstract":"","PeriodicalId":44571,"journal":{"name":"International Review of Research in Developmental Disabilities","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"56669781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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