{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,7]],"date-time":"2026-06-07T01:00:54Z","timestamp":1780794054153,"version":"3.54.1"},"reference-count":56,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,1,5]],"date-time":"2025-01-05T00:00:00Z","timestamp":1736035200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,1,5]],"date-time":"2025-01-05T00:00:00Z","timestamp":1736035200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R13HD108965"],"award-info":[{"award-number":["R13HD108965"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R13HD108965"],"award-info":[{"award-number":["R13HD108965"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R13HD108965"],"award-info":[{"award-number":["R13HD108965"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neuromol Med"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Down syndrome (DS) or trisomy 21 (T21) is present in a significant number of children and adults around the world and is associated with cognitive and medical challenges. Through research, the T21 Research Society (T21RS), established in 2014, unites a worldwide community dedicated to understanding the impact of T21 on biological systems and improving the quality of life of people with DS across the lifespan. T21RS hosts an international conference every two years to support collaboration, dissemination, and information sharing for this goal. In 2022, T21RS hosted an international conference in Long Beach, California, from June 9 to 12. The conference, attended by 483 people including scientists, families, self-advocates, and industry representatives from 17 countries, was a dynamic and interactive meeting that shared discoveries from international research teams. This summary highlights the scientific discoveries shared at the 4th T21RS meeting with the Imagine, Discover, Inspire theme.<\/jats:p>","DOI":"10.1007\/s12017-024-08824-y","type":"journal-article","created":{"date-parts":[[2025,1,5]],"date-time":"2025-01-05T02:21:01Z","timestamp":1736043661000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Imagine, Discover, Inspire: Proceedings of the 4th International Conference of the Trisomy 21 Research Society"],"prefix":"10.1007","volume":"27","author":[{"given":"Lisi","family":"Flores-Aguilar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric D.","family":"Hamlett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Araya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenio","family":"Barone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Bhattacharyya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Carmona-Iragui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brad","family":"Christian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto C. S.","family":"Costa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Floriana","family":"Costanzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Del Hoyo Soriano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mara","family":"Dierssen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evan E.","family":"Eichler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Fisher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Galbraith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sujay","family":"Ghosh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Gimenez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faycal","family":"Guedj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Guidi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Florencia","family":"Iulita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Mobley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Chiara","family":"Pelleri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Claude","family":"Potier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen R.","family":"Rabin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Rachubinski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Sophie","family":"Rebillat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Rubenstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Saternos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorena","family":"Sordo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andre","family":"Strydom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Valle-Tamayo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine A.","family":"Waugh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugene","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ella","family":"Zeldich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge","family":"Busciglio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Head","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,1,5]]},"reference":[{"issue":"1","key":"8824_CR1","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1186\/s11689-020-09313-6","volume":"12","author":"L Abbeduto","year":"2020","unstructured":"Abbeduto, L., Berry-Kravis, E., Sterling, A., Sherman, S., Edgin, J. O., McDuffie, A., Hoffmann, A., Hamilton, D., Nelson, M., Aschkenasy, J., & Thurman, A. J. (2020). Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: Feasibility, practice effects, test-retest reliability, and construct validity. Journal of Neurodevelopmental Disorders, 12(1), 10. https:\/\/doi.org\/10.1186\/s11689-020-09313-6","journal-title":"Journal of Neurodevelopmental Disorders"},{"key":"8824_CR2","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1016\/j.freeradbiomed.2021.06.003","volume":"172","author":"CC Anderson","year":"2021","unstructured":"Anderson, C. C., Marentette, J. O., Prutton, K. M., Rauniyar, A. K., Reisz, J. A., D\u2019Alessandro, A., Maclean, K. N., Saba, L. M., & Roede, J. R. (2021). Trisomy 21 results in modest impacts on mitochondrial function and central carbon metabolism. Free Radical Biology & Medicine, 172, 201\u2013212. https:\/\/doi.org\/10.1016\/j.freeradbiomed.2021.06.003","journal-title":"Free Radical Biology & Medicine"},{"issue":"4","key":"8824_CR3","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1093\/bib\/bbr005","volume":"12","author":"C Andronis","year":"2011","unstructured":"Andronis, C., Sharma, A., Virvilis, V., Deftereos, S., & Persidis, A. (2011). Literature mining, ontologies and information visualization for drug repurposing. Briefings in Bioinformatics, 12(4), 357\u2013368. https:\/\/doi.org\/10.1093\/bib\/bbr005","journal-title":"Briefings in Bioinformatics"},{"issue":"1","key":"8824_CR4","doi-asserted-by":"publisher","first-page":"4225","DOI":"10.1038\/s41598-021-83379-7","volume":"11","author":"F Antonaros","year":"2021","unstructured":"Antonaros, F., Lanfranchi, S., Locatelli, C., Martelli, A., Olivucci, G., Cicchini, E., Carosi Diatricch, L., Mannini, E., Vione, B., Feliciello, A., Ramacieri, G., Onnivello, S., Vianello, R., Vitale, L., Pelleri, M. C., Strippoli, P., Cocchi, G., Pulina, F., Piovesan, A., & Caracausi, M. (2021). One-carbon pathway and cognitive skills in children with Down syndrome. Science and Reports, 11(1), 4225. https:\/\/doi.org\/10.1038\/s41598-021-83379-7","journal-title":"Science and Reports"},{"issue":"1","key":"8824_CR5","doi-asserted-by":"crossref","DOI":"10.1002\/alz.12010","volume":"13","author":"AJ Aschenbrenner","year":"2021","unstructured":"Aschenbrenner, A. J., Baksh, R. A., Benejam, B., Beresford-Webb, J. A., Coppus, A., Fortea, J., Handen, B. L., Hartley, S., Head, E., & Jaeger, J. (2021). Markers of early changes in cognition across cohorts of adults with Down syndrome at risk of Alzheimer\u2019s disease. Alzheimer\u2019s & Dementia: Diagnosis, Assessment & Disease Monitoring, 13(1), e12184.","journal-title":"Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring"},{"issue":"2","key":"8824_CR6","doi-asserted-by":"publisher","DOI":"10.1111\/jne.13033","volume":"34","author":"I Barbiero","year":"2022","unstructured":"Barbiero, I., Bianchi, M., & Kilstrup-Nielsen, C. (2022a). Therapeutic potential of pregnenolone and pregnenolone methyl ether on depressive and CDKL5 deficiency disorders: Focus on microtubule targeting. Journal of Neuroendocrinology, 34(2), e13033. https:\/\/doi.org\/10.1111\/jne.13033","journal-title":"Journal of Neuroendocrinology"},{"issue":"16","key":"8824_CR7","doi-asserted-by":"publisher","first-page":"2738","DOI":"10.1093\/hmg\/ddac067","volume":"31","author":"I Barbiero","year":"2022","unstructured":"Barbiero, I., Zamberletti, E., Tramarin, M., Gabaglio, M., Peroni, D., De Rosa, R., Baldin, S., Bianchi, M., Rubino, T., & Kilstrup-Nielsen, C. (2022b). Pregnenolone-methyl-ether enhances CLIP170 and microtubule functions improving spine maturation and hippocampal deficits related to CDKL5 deficiency. Human Molecular Genetics, 31(16), 2738\u20132750. https:\/\/doi.org\/10.1093\/hmg\/ddac067","journal-title":"Human Molecular Genetics"},{"issue":"10\u201311","key":"8824_CR8","doi-asserted-by":"publisher","first-page":"797","DOI":"10.1177\/08830738221089740","volume":"37","author":"E Berry-Kravis","year":"2022","unstructured":"Berry-Kravis, E. (2022). Disease-targeted treatment translation in fragile X Syndrome as a model for neurodevelopmental disorders. Journal of Child Neurology, 37(10\u201311), 797\u2013812. https:\/\/doi.org\/10.1177\/08830738221089740","journal-title":"Journal of Child Neurology"},{"issue":"1","key":"8824_CR9","doi-asserted-by":"publisher","first-page":"2977","DOI":"10.1038\/s41598-018-20834-y","volume":"8","author":"M Caracausi","year":"2018","unstructured":"Caracausi, M., Ghini, V., Locatelli, C., Mericio, M., Piovesan, A., Antonaros, F., Pelleri, M. C., Vitale, L., Vacca, R. A., Bedetti, F., Mimmi, M. C., Luchinat, C., Turano, P., Strippoli, P., & Cocchi, G. (2018). Plasma and urinary metabolomic profiles of Down syndrome correlate with alteration of mitochondrial metabolism. Science and Reports, 8(1), 2977. https:\/\/doi.org\/10.1038\/s41598-018-20834-y","journal-title":"Science and Reports"},{"issue":"8","key":"8824_CR10","doi-asserted-by":"publisher","first-page":"605","DOI":"10.1016\/S1474-4422(21)00129-0","volume":"20","author":"M Carmona-Iragui","year":"2021","unstructured":"Carmona-Iragui, M., Alcolea, D., Barroeta, I., Videla, L., Munoz, L., Van Pelt, K. L., Schmitt, F. A., Lightner, D. D., Koehl, L. M., Jicha, G., Sacco, S., Mircher, C., Pape, S. E., Hithersay, R., Clare, I. C. H., Holland, A. J., Nubling, G., Levin, J., Zaman, S. H., \u2026 Fortea, J. (2021). Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome: A cohort study. Lancet Neurology, 20(8), 605\u2013614. https:\/\/doi.org\/10.1016\/S1474-4422(21)00129-0","journal-title":"Lancet Neurology"},{"issue":"1","key":"8824_CR11","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/S1474-4422(21)00369-0","volume":"21","author":"ACS Costa","year":"2022","unstructured":"Costa, A. C. S., Brandao, A. C., Boada, R., Barrionuevo, V. L., Taylor, H. G., Roth, E., Stasko, M. R., Johnson, M. W., Assir, F. F., Roberto, M. P., Salmona, P., Abreu-Silveira, G., Bederman, I., Prendergast, E., Huls, A., Abrishamcar, S., Mustacchi, Z., Scheidemantel, T., Roizen, N. J., & Ruedrich, S. (2022). Safety, efficacy, and tolerability of memantine for cognitive and adaptive outcome measures in adolescents and young adults with Down syndrome: A randomised, double-blind, placebo-controlled phase 2 trial. Lancet Neurology, 21(1), 31\u201341. https:\/\/doi.org\/10.1016\/S1474-4422(21)00369-0","journal-title":"Lancet Neurology"},{"issue":"2","key":"8824_CR12","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1080\/17518423.2021.1942281","volume":"25","author":"L Del Hoyo Soriano","year":"2022","unstructured":"Del Hoyo Soriano, L., Bullard, L., Thurman, A. J., Alvarez, C. H., & Abbeduto, L. (2022). Providing a parent-administered outcome measure in a bilingual family of a father and a mother of two adolescents with ASD: Brief report. Developmental Neurorehabilitation, 25(2), 140\u2013144. https:\/\/doi.org\/10.1080\/17518423.2021.1942281","journal-title":"Developmental Neurorehabilitation"},{"key":"8824_CR13","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1016\/j.euroneuro.2021.02.020","volume":"48","author":"CM Diaz-Caneja","year":"2021","unstructured":"Diaz-Caneja, C. M., State, M. W., Hagerman, R. J., Jacquemont, S., Marin, O., Bagni, C., Umbricht, D., Simonoff, E., de Andres-Trelles, F., Kaale, A., Pandina, G., Gomez-Mancilla, B., Wang, P. P., Cusak, J., Siafis, S., Leucht, S., Parellada, M., Loth, E., Charman, T., \u2026 Arango, C. (2021). A white paper on a neurodevelopmental framework for drug discovery in autism and other neurodevelopmental disorders. European Neuropsychopharmacology, 48, 49\u201388. https:\/\/doi.org\/10.1016\/j.euroneuro.2021.02.020","journal-title":"European Neuropsychopharmacology"},{"issue":"3","key":"8824_CR14","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1352\/1944-7558-122.3.247","volume":"122","author":"AJ Esbensen","year":"2017","unstructured":"Esbensen, A. J., Hooper, S. R., Fidler, D., Hartley, S. L., Edgin, J., d\u2019Ardhuy, X. L., Capone, G., Conners, F. A., Mervis, C. B., Abbeduto, L., Rafii, M. S., Krinsky-McHale, S. J., Urv, T., & Outcome Measures Working, \nG (2017). Outcome measures for clinical trials in Down syndrome. American Journal on Intellectual and Developmental Disabilities, 122(3), 247\u2013281. https:\/\/doi.org\/10.1352\/1944-7558-122.3.247","journal-title":"American Journal on Intellectual and Developmental Disabilities"},{"issue":"8","key":"8824_CR15","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1016\/S1474-4422(21)00139-3","volume":"20","author":"AM Fagan","year":"2021","unstructured":"Fagan, A. M., Henson, R. L., Li, Y., Boerwinkle, A. H., Xiong, C., Bateman, R. J., Goate, A., Ances, B. M., Doran, E., Christian, B. T., Lai, F., Rosas, H. D., Schupf, N., Krinsky-McHale, S., Silverman, W., Lee, J. H., Klunk, W. E., Handen, B. L., Allegri, R. F., Lott, I. T., & Dominantly Inherited Alzheimer, N. (2021). Comparison of CSF biomarkers in Down syndrome and autosomal dominant Alzheimer\u2019s disease: A cross-sectional study. Lancet Neurology, 20(8), 615\u2013626. https:\/\/doi.org\/10.1016\/S1474-4422(21)00139-3","journal-title":"Lancet Neurology"},{"key":"8824_CR16","doi-asserted-by":"publisher","unstructured":"Ferraro, L., Scala, G., Cerulo, L., Carosati, E., & Ceccarelli, M. (2023). MOViDA: multiomics visible drug activity prediction with a biologically informed neural network model. Bioinformatics, 39(7). https:\/\/doi.org\/10.1093\/bioinformatics\/btad432","DOI":"10.1093\/bioinformatics\/btad432"},{"issue":"6","key":"8824_CR17","doi-asserted-by":"publisher","first-page":"741","DOI":"10.1002\/acn3.571","volume":"5","author":"NC Firth","year":"2018","unstructured":"Firth, N. C., Startin, C. M., Hithersay, R., Hamburg, S., Wijeratne, P. A., Mok, K. Y., Hardy, J., Alexander, D. C., Consortium, L., & Strydom, A. (2018). Aging related cognitive changes associated with Alzheimer\u2019s disease in Down syndrome. Annals of Clinical and Translational Neurology, 5(6), 741\u2013751.","journal-title":"Annals of Clinical and Translational Neurology"},{"issue":"12","key":"8824_CR18","doi-asserted-by":"publisher","first-page":"3653","DOI":"10.1093\/brain\/awaa326","volume":"143","author":"L Flores-Aguilar","year":"2020","unstructured":"Flores-Aguilar, L., Iulita, M. F., Kovecses, O., Torres, M. D., Levi, S. M., Zhang, Y., Askenazi, M., Wisniewski, T., Busciglio, J., & Cuello, A. C. (2020). Evolution of neuroinflammation across the lifespan of individuals with Down syndrome. Brain, 143(12), 3653\u20133671. https:\/\/doi.org\/10.1093\/brain\/awaa326","journal-title":"Brain"},{"issue":"10","key":"8824_CR19","doi-asserted-by":"publisher","first-page":"860","DOI":"10.1016\/S1474-4422(18)30285-0","volume":"17","author":"J Fortea","year":"2018","unstructured":"Fortea, J., Carmona-Iragui, M., Benejam, B., Fernandez, S., Videla, L., Barroeta, I., Alcolea, D., Pegueroles, J., Munoz, L., Belbin, O., de Leon, M. J., Maceski, A. M., Hirtz, C., Clarimon, J., Videla, S., Delaby, C., Lehmann, S., Blesa, R., & Lleo, A. (2018a). Plasma and CSF biomarkers for the diagnosis of Alzheimer\u2019s disease in adults with Down syndrome: A cross-sectional study. Lancet Neurology, 17(10), 860\u2013869. https:\/\/doi.org\/10.1016\/S1474-4422(18)30285-0","journal-title":"Lancet Neurology"},{"issue":"10242","key":"8824_CR20","doi-asserted-by":"publisher","first-page":"1988","DOI":"10.1016\/S0140-6736(20)30689-9","volume":"395","author":"J Fortea","year":"2020","unstructured":"Fortea, J., Vilaplana, E., Carmona-Iragui, M., Benejam, B., Videla, L., Barroeta, I., Fernandez, S., Altuna, M., Pegueroles, J., Montal, V., Valldeneu, S., Gimenez, S., Gonzalez-Ortiz, S., Munoz, L., Estelles, T., Illan-Gala, I., Belbin, O., Camacho, V., Wilson, L. R., & Lleo, A. (2020). Clinical and biomarker changes of Alzheimer\u2019s disease in adults with Down syndrome: A cross-sectional study. Lancet, 395(10242), 1988\u20131997. https:\/\/doi.org\/10.1016\/S0140-6736(20)30689-9","journal-title":"Lancet"},{"issue":"11","key":"8824_CR21","doi-asserted-by":"publisher","first-page":"930","DOI":"10.1016\/S1474-4422(21)00245-3","volume":"20","author":"J Fortea","year":"2021","unstructured":"Fortea, J., Zaman, S. H., Hartley, S., Rafii, M. S., Head, E., & Carmona-Iragui, M. (2021). Alzheimer\u2019s disease associated with Down syndrome: A genetic form of dementia. Lancet Neurology, 20(11), 930\u2013942. https:\/\/doi.org\/10.1016\/S1474-4422(21)00245-3","journal-title":"Lancet Neurology"},{"key":"8824_CR22","doi-asserted-by":"publisher","unstructured":"Gimenez, S., Altuna, M., Blessing, E., Osorio, R. M., & Fortea, J. (2021). Sleep disorders in adults with Down syndrome. J Clin Med, 10(14). https:\/\/doi.org\/10.3390\/jcm10143012","DOI":"10.3390\/jcm10143012"},{"key":"8824_CR23","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2022.838412","volume":"16","author":"S Gimenez","year":"2022","unstructured":"Gimenez, S., Farre, A., Morente, F., Videla, L., Gutierrez, M., Clos, S., Fernandez, A., Blanco, M., Altuna, M., Pegueroles, J., Asensio, A., Benejam, B., Batista, M., Barroeta, I., Fortuna, A., Fortea, J., & Mayos, M. (2022). Feasibility and long-term compliance to continuous positive airway pressure treatment in adults with down syndrome, a genetic form of Alzheimer\u2019s disease. Frontiers in Neuroscience, 16, 838412. https:\/\/doi.org\/10.3389\/fnins.2022.838412","journal-title":"Frontiers in Neuroscience"},{"key":"8824_CR24","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1016\/j.freeradbiomed.2017.08.028","volume":"114","author":"ED Hamlett","year":"2018","unstructured":"Hamlett, E. D., Ledreux, A., Potter, H., Chial, H. J., Patterson, D., Espinosa, J. M., Bettcher, B. M., & Granholm, A. C. (2018). Exosomal biomarkers in Down syndrome and Alzheimer\u2019s disease. Free Radical Biology & Medicine, 114, 110\u2013121. https:\/\/doi.org\/10.1016\/j.freeradbiomed.2017.08.028","journal-title":"Free Radical Biology & Medicine"},{"issue":"1","key":"8824_CR25","doi-asserted-by":"publisher","DOI":"10.1002\/dad2.12065","volume":"12","author":"BL Handen","year":"2020","unstructured":"Handen, B. L., Lott, I. T., Christian, B. T., Schupf, N., OBryant, S. Mapstone, M., Fagan, A. M., Lee, J. H., Tudorascu, D., Wang, M. C., Head, E., Klunk, W., Ances, B., Lai, F., Zaman, S., Krinsky-McHale, S., Brickman, A. M., Rosas, H. D., Cohen, A., Andrews, H., Hartley, S., Silverman, W. & Alzheimer's Biomarker Consortium\u2010Down Syndrome (ABC\u2010DS). (2020). The Alzheimer\u2019s Biomarker Consortium-Down Syndrome: Rationale and methodology. Alzheimers Dement (Amst), 12(1), e12065. https:\/\/doi.org\/10.1002\/dad2.12065","journal-title":"Alzheimers Dement (Amst)"},{"issue":"4","key":"8824_CR26","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1002\/alz.12222","volume":"17","author":"R Hithersay","year":"2021","unstructured":"Hithersay, R., Baksh, R. A., Startin, C. M., Wijeratne, P., Hamburg, S., Carter, B., Consortium, L., & Strydom, A. (2021). Optimal age and outcome measures for Alzheimer\u2019s disease prevention trials in people with Down syndrome. Alzheimer\u2019s & Dementia, 17(4), 595\u2013604.","journal-title":"Alzheimer's & Dementia"},{"issue":"4","key":"8824_CR27","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1007\/s12017-021-08651-5","volume":"23","author":"T Illouz","year":"2021","unstructured":"Illouz, T., Biragyn, A., Frenkel-Morgenstern, M., Weissberg, O., Gorohovski, A., Merzon, E., Green, I., Iulita, F., Flores-Aguilar, L., Dierssen, M., De Toma, I., Lifshitz, H., Antonarakis, S. E., Yu, E., Herault, Y., Potier, M. C., Botte, A., Roper, R., Sredni, B., \u2026 Okun, E. (2021a). Specific susceptibility to COVID-19 in adults with Down syndrome. Neuromolecular Medicine, 23(4), 561\u2013571. https:\/\/doi.org\/10.1007\/s12017-021-08651-5","journal-title":"Neuromolecular Medicine"},{"key":"8824_CR28","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2021.621440","volume":"12","author":"T Illouz","year":"2021","unstructured":"Illouz, T., Biragyn, A., Iulita, M. F., Flores-Aguilar, L., Dierssen, M., De Toma, I., Antonarakis, S. E., Yu, E., Herault, Y., Potier, M. C., Botte, A., Roper, R., Sredni, B., London, J., Mobley, W., Strydom, A., & Okun, E. (2021b). Immune dysregulation and the increased risk of complications and mortality following respiratory tract infections in adults with down syndrome. Frontiers in Immunology, 12, 621440. https:\/\/doi.org\/10.3389\/fimmu.2021.621440","journal-title":"Frontiers in Immunology"},{"issue":"5","key":"8824_CR29","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2022.12910","volume":"5","author":"MF Iulita","year":"2022","unstructured":"Iulita, M. F., Garzon Chavez, D., Klitgaard Christensen, M., Valle Tamayo, N., Plana-Ripoll, O., Rasmussen, S. A., Roque Figuls, M., Alcolea, D., Videla, L., Barroeta, I., Benejam, B., Altuna, M., Padilla, C., Pegueroles, J., Fernandez, S., Belbin, O., Carmona-Iragui, M., Blesa, R., Lleo, A., \u2026 Fortea, J. (2022). Association of Alzheimer disease with life expectancy in people with down syndrome. JAMA Network Open, 5(5), e2212910. https:\/\/doi.org\/10.1001\/jamanetworkopen.2022.12910","journal-title":"JAMA Network Open"},{"issue":"1","key":"8824_CR30","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1186\/s10020-018-0004-y","volume":"24","author":"A Izzo","year":"2018","unstructured":"Izzo, A., Mollo, N., Nitti, M., Paladino, S., Cali, G., Genesio, R., Bonfiglio, F., Cicatiello, R., Barbato, M., Sarnataro, V., Conti, A., & Nitsch, L. (2018). Mitochondrial dysfunction in down syndrome: Molecular mechanisms and therapeutic targets. Molecular Medicine, 24(1), 2. https:\/\/doi.org\/10.1186\/s10020-018-0004-y","journal-title":"Molecular Medicine"},{"key":"8824_CR31","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2022.1740","author":"S Janelidze","year":"2022","unstructured":"Janelidze, S., Christian, B. T., Price, J., Laymon, C., Schupf, N., Klunk, W. E., Lott, I., Silverman, W., Rosas, H. D., Zaman, S., Mapstone, M., Lai, F., Ances, B. M., Handen, B. L., & Hansson, O. (2022). Detection of brain tau pathology in down syndrome using plasma biomarkers. JAMA Neurology. https:\/\/doi.org\/10.1001\/jamaneurol.2022.1740","journal-title":"JAMA Neurology"},{"key":"8824_CR32","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1016\/j.exphem.2022.03.005","volume":"110","author":"JJ Junco","year":"2022","unstructured":"Junco, J. J., Zorman, B., Gant, V. U., Jr., Munoz, J., Lacorazza, H. D., Sumazin, P., & Rabin, K. R. (2022). CRLF2 overexpression results in reduced B-cell differentiation and upregulated E2F signaling in the Dp16 mouse model of Down syndrome. Experimental Hematology, 110, 34\u201338. https:\/\/doi.org\/10.1016\/j.exphem.2022.03.005","journal-title":"Experimental Hematology"},{"key":"8824_CR33","doi-asserted-by":"publisher","unstructured":"Lambert, K., Moo, K. G., Arnett, A., Goel, G., Hu, A., Flynn, K. J., Speake, C., Wiedeman, A. E., Gersuk, V. H., Linsley, P. S., Greenbaum, C. J., Long, S. A., Partridge, R., Buckner, J. H., & Khor, B. (2022). Deep immune phenotyping reveals similarities between aging, Down syndrome, and autoimmunity. Science Translational Medicine, 14(627), eabi4888. https:\/\/doi.org\/10.1126\/scitranslmed.abi4888","DOI":"10.1126\/scitranslmed.abi4888"},{"issue":"2","key":"8824_CR34","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1016\/j.molmed.2019.10.001","volume":"26","author":"SE Lee","year":"2020","unstructured":"Lee, S. E., Duran-Martinez, M., Khantsis, S., Bianchi, D. W., & Guedj, F. (2020). Challenges and opportunities for translation of therapies to improve cognition in down syndrome. Trends in Molecular Medicine, 26(2), 150\u2013169. https:\/\/doi.org\/10.1016\/j.molmed.2019.10.001","journal-title":"Trends in Molecular Medicine"},{"key":"8824_CR35","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2020.106521","volume":"169","author":"H Leonard","year":"2021","unstructured":"Leonard, H., Junaid, M., Wong, K., Demarest, S., & Downs, J. (2021). Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder. Epilepsy Research, 169, 106521. https:\/\/doi.org\/10.1016\/j.eplepsyres.2020.106521","journal-title":"Epilepsy Research"},{"issue":"3","key":"8824_CR36","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1038\/s41582-018-0132-6","volume":"15","author":"IT Lott","year":"2019","unstructured":"Lott, I. T., & Head, E. (2019). Dementia in Down syndrome: Unique insights for Alzheimer disease research. Nature Reviews Neurology, 15(3), 135\u2013147. https:\/\/doi.org\/10.1038\/s41582-018-0132-6","journal-title":"Nature Reviews Neurology"},{"issue":"1","key":"8824_CR37","doi-asserted-by":"publisher","DOI":"10.1002\/dad2.12113","volume":"12","author":"AC Martini","year":"2020","unstructured":"Martini, A. C., Helman, A. M., McCarty, K. L., Lott, I. T., Doran, E., Schmitt, F. A., & Head, E. (2020). Distribution of microglial phenotypes as a function of age and Alzheimer\u2019s disease neuropathology in the brains of people with Down syndrome. Alzheimers Dement (Amst), 12(1), e12113. https:\/\/doi.org\/10.1002\/dad2.12113","journal-title":"Alzheimers Dement (Amst)"},{"key":"8824_CR38","doi-asserted-by":"publisher","unstructured":"Mollo, N., Cicatiello, R., Aurilia, M., Scognamiglio, R., Genesio, R., Charalambous, M., Paladino, S., Conti, A., Nitsch, L., & Izzo, A. (2020). Targeting mitochondrial network architecture in down syndrome and aging. International Journal of Molecular Sciences, 21(9). https:\/\/doi.org\/10.3390\/ijms21093134","DOI":"10.3390\/ijms21093134"},{"issue":"1","key":"8824_CR39","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1038\/s41398-019-0578-3","volume":"9","author":"JS Orozco","year":"2019","unstructured":"Orozco, J. S., Hertz-Picciotto, I., Abbeduto, L., & Slupsky, C. M. (2019). Metabolomics analysis of children with autism, idiopathic-developmental delays, and Down syndrome. Translational Psychiatry, 9(1), 243. https:\/\/doi.org\/10.1038\/s41398-019-0578-3","journal-title":"Translational Psychiatry"},{"issue":"7","key":"8824_CR40","doi-asserted-by":"publisher","first-page":"943","DOI":"10.1517\/14622416.5.7.943","volume":"5","author":"A Persidis","year":"2004","unstructured":"Persidis, A., Deftereos, S., & Persidis, A. (2004). Systems literature analysis. Pharmacogenomics, 5(7), 943\u2013947. https:\/\/doi.org\/10.1517\/14622416.5.7.943","journal-title":"Pharmacogenomics"},{"issue":"2","key":"8824_CR41","doi-asserted-by":"publisher","first-page":"439","DOI":"10.3233\/JAD-170390","volume":"60","author":"MS Rafii","year":"2017","unstructured":"Rafii, M. S., Lukic, A. S., Andrews, R. D., Brewer, J., Rissman, R. A., Strother, S. C., Wernick, M. N., Pennington, C., Mobley, W. C., Ness, S., Matthews, D. C., Down Syndrome Biomarker, I., & the Alzheimer\u2019s Disease Neuroimaging, I. (2017). PET imaging of tau pathology and relationship to amyloid, longitudinal MRI, and cognitive change in Down syndrome: Results from the down syndrome biomarker initiative (DSBI). Journal of Alzheimer\u2019s Disease, 60(2), 439\u2013450. https:\/\/doi.org\/10.3233\/JAD-170390","journal-title":"Journal of Alzheimer's Disease"},{"key":"8824_CR42","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1016\/bs.pbr.2019.10.001","volume":"251","author":"N Rueda","year":"2020","unstructured":"Rueda, N., Florez, J., Dierssen, M., & Martinez-Cue, C. (2020). Translational validity and implications of pharmacotherapies in preclinical models of Down syndrome. Progress in Brain Research, 251, 245\u2013268. https:\/\/doi.org\/10.1016\/bs.pbr.2019.10.001","journal-title":"Progress in Brain Research"},{"key":"8824_CR43","doi-asserted-by":"publisher","unstructured":"Soriano, L. D. H., Bullard, L., Alvarez, C. H., Thurman, A. J., & Abbeduto, L. (2021). Using telehealth-delivered procedures to collect a parent-implemented expressive language sampling narrative task in monolingual and bilingual families with Autism Spectrum Disorder: A pilot study. Frontiers in Rehabilitation Sciences, 2. https:\/\/doi.org\/10.3389\/fresc.2021.716550","DOI":"10.3389\/fresc.2021.716550"},{"key":"8824_CR44","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1016\/j.trci.2018.10.006","volume":"4","author":"A Strydom","year":"2018","unstructured":"Strydom, A., Coppus, A., Blesa, R., Danek, A., Fortea, J., Hardy, J., Levin, J., Nuebling, G., Rebillat, A.-S., & Ritchie, C. (2018a). Alzheimer\u2019s disease in Down syndrome: An overlooked population for prevention trials. Alzheimer\u2019s & Dementia: Translational Research & Clinical Interventions, 4, 703\u2013713.","journal-title":"Alzheimer's & Dementia: Translational Research & Clinical Interventions"},{"key":"8824_CR45","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1016\/j.trci.2018.10.006","volume":"4","author":"A Strydom","year":"2018","unstructured":"Strydom, A., Coppus, A., Blesa, R., Danek, A., Fortea, J., Hardy, J., Levin, J., Nuebling, G., Rebillat, A. S., Ritchie, C., van Duijn, C., Zaman, S., & Zetterberg, H. (2018b). Alzheimer\u2019s disease in Down syndrome: An overlooked population for prevention trials. Alzheimers Dement (N Y), 4, 703\u2013713. https:\/\/doi.org\/10.1016\/j.trci.2018.10.006","journal-title":"Alzheimers Dement (N Y)"},{"issue":"1","key":"8824_CR46","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1186\/s11689-021-09361-6","volume":"13","author":"AJ Thurman","year":"2021","unstructured":"Thurman, A. J., Edgin, J. O., Sherman, S. L., Sterling, A., McDuffie, A., Berry-Kravis, E., Hamilton, D., & Abbeduto, L. (2021). Spoken language outcome measures for treatment studies in Down syndrome: Feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling. Journal of Neurodevelopmental Disorders, 13(1), 13. https:\/\/doi.org\/10.1186\/s11689-021-09361-6","journal-title":"Journal of Neurodevelopmental Disorders"},{"key":"8824_CR47","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1016\/j.neuropharm.2018.05.004","volume":"147","author":"MR Tranfaglia","year":"2019","unstructured":"Tranfaglia, M. R., Thibodeaux, C., Mason, D. J., Brown, D., Roberts, I., Smith, R., Guilliams, T., & Cogram, P. (2019). Repurposing available drugs for neurodevelopmental disorders: The fragile X experience. Neuropharmacology, 147, 74\u201386. https:\/\/doi.org\/10.1016\/j.neuropharm.2018.05.004","journal-title":"Neuropharmacology"},{"issue":"Pt 2","key":"8824_CR48","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1016\/j.neubiorev.2014.01.012","volume":"46","author":"D Valenti","year":"2014","unstructured":"Valenti, D., de Bari, L., De Filippis, B., Henrion-Caude, A., & Vacca, R. A. (2014). Mitochondrial dysfunction as a central actor in intellectual disability-related diseases: An overview of Down syndrome, autism, Fragile X and Rett syndrome. Neuroscience and Biobehavioral Reviews, 46(Pt 2), 202\u2013217. https:\/\/doi.org\/10.1016\/j.neubiorev.2014.01.012","journal-title":"Neuroscience and Biobehavioral Reviews"},{"key":"8824_CR49","doi-asserted-by":"publisher","unstructured":"Wang, Y., Yang, Y., Chen, S., & Wang, J. (2021). DeepDRK: a deep learning framework for drug repurposing through kernel-based multi-omics integration. Briefings in Bioinformatics, 22(5). https:\/\/doi.org\/10.1093\/bib\/bbab048","DOI":"10.1093\/bib\/bbab048"},{"issue":"6","key":"8824_CR50","doi-asserted-by":"publisher","first-page":"1034","DOI":"10.1038\/s41588-023-01399-7","volume":"55","author":"KA Waugh","year":"2023","unstructured":"Waugh, K. A., Minter, R., Baxter, J., Chi, C., Galbraith, M. D., Tuttle, K. D., Eduthan, N. P., Kinning, K. T., Andrysik, Z., Araya, P., Dougherty, H., Dunn, L. N., Ludwig, M., Schade, K. A., Tracy, D., Smith, K. P., Granrath, R. E., Busquet, N., Khanal, S., & Espinosa, J. M. (2023). Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model. Nature Genetics, 55(6), 1034\u20131047. https:\/\/doi.org\/10.1038\/s41588-023-01399-7","journal-title":"Nature Genetics"},{"issue":"9","key":"8824_CR51","doi-asserted-by":"publisher","first-page":"2468","DOI":"10.1016\/j.neurobiolaging.2015.05.016","volume":"36","author":"DM Wilcock","year":"2015","unstructured":"Wilcock, D. M., Hurban, J., Helman, A. M., Sudduth, T. L., McCarty, K. L., Beckett, T. L., Ferrell, J. C., Murphy, M. P., Abner, E. L., Schmitt, F. A., & Head, E. (2015). Down syndrome individuals with Alzheimer\u2019s disease have a distinct neuroinflammatory phenotype compared to sporadic Alzheimer\u2019s disease. Neurobiology of Aging, 36(9), 2468\u20132474. https:\/\/doi.org\/10.1016\/j.neurobiolaging.2015.05.016","journal-title":"Neurobiology of Aging"},{"key":"8824_CR52","doi-asserted-by":"publisher","unstructured":"Xanthopoulos, M. S., Beck, S. E., Ku, H., Moore, M., Thomas, J. H., Cielo, C., Smith, J., Matthews, E. C., & Tapia, I. E. (2019). 0717 Long-term experience of positive airway pressure for the treatment of obstructive sleep apnea syndrome in youth with down syndrome. Sleep, 42(Supplement_1), A288. https:\/\/doi.org\/10.1093\/sleep\/zsz067.715","DOI":"10.1093\/sleep\/zsz067.715"},{"issue":"8","key":"8824_CR53","doi-asserted-by":"publisher","first-page":"1897","DOI":"10.1002\/ppul.25318","volume":"57","author":"MS Xanthopoulos","year":"2022","unstructured":"Xanthopoulos, M. S., Williamson, A. A., & Tapia, I. E. (2022). Positive airway pressure for the treatment of the childhood obstructive sleep apnea syndrome. Pediatric Pulmonology, 57(8), 1897\u20131903. https:\/\/doi.org\/10.1002\/ppul.25318","journal-title":"Pediatric Pulmonology"},{"issue":"1","key":"8824_CR54","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1038\/s41398-023-02355-z","volume":"13","author":"L Xicota","year":"2023","unstructured":"Xicota, L., Lagarde, J., Eysert, F., Grenier-Boley, B., Rivals, I., Botte, A., Forlani, S., Landron, S., Gautier, C., Gabriel, C., Bottlaender, M., Lambert, J. C., Chami, M., Sarazin, M., & Potier, M. C. (2023). Modifications of the endosomal compartment in fibroblasts from sporadic Alzheimer\u2019s disease patients are associated with cognitive impairment. Translational Psychiatry, 13(1), 54. https:\/\/doi.org\/10.1038\/s41398-023-02355-z","journal-title":"Translational Psychiatry"},{"issue":"6","key":"8824_CR55","doi-asserted-by":"publisher","first-page":"522","DOI":"10.1001\/jamaoto.2022.0455","volume":"148","author":"PK Yu","year":"2022","unstructured":"Yu, P. K., Stenerson, M., Ishman, S. L., Shott, S. R., Raol, N., Soose, R. J., Tobey, A., Baldassari, C., Dedhia, R. C., Pulsifer, M. B., Grieco, J. A., Abbeduto, L. J., Kinane, T. B., Keamy, D. G., Jr., Skotko, B. G., & Hartnick, C. J. (2022). Evaluation of upper airway stimulation for adolescents with down syndrome and obstructive sleep apnea. JAMA Otolaryngology Head & Neck Surgery, 148(6), 522\u2013528. https:\/\/doi.org\/10.1001\/jamaoto.2022.0455","journal-title":"JAMA Otolaryngology Head & Neck Surgery"},{"issue":"8","key":"8824_CR56","doi-asserted-by":"publisher","first-page":"1378","DOI":"10.1093\/hmg\/ddaa065","volume":"29","author":"X Yu","year":"2020","unstructured":"Yu, X., Lai, S., Chen, H., & Chen, M. (2020). Protein-protein interaction network with machine learning models and multiomics data reveal potential neurodegenerative disease-related proteins. Human Molecular Genetics, 29(8), 1378\u20131387. https:\/\/doi.org\/10.1093\/hmg\/ddaa065","journal-title":"Human Molecular Genetics"}],"container-title":["NeuroMolecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12017-024-08824-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12017-024-08824-y","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12017-024-08824-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T14:41:12Z","timestamp":1767192072000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12017-024-08824-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,5]]},"references-count":56,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["8824"],"URL":"https:\/\/doi.org\/10.1007\/s12017-024-08824-y","relation":{},"ISSN":["1559-1174"],"issn-type":[{"value":"1559-1174","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,5]]},"assertion":[{"value":"7 October 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 December 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 January 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"E.E.E. is a member of the scientific advisory board of Variant Bio, Inc. The other authors have no conflicts of interest to declare.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interests"}}],"article-number":"5"}}