| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Anna-Thérèse Mehra, Monica H Wojci. Presentation and Longer-Term Outcomes in Mosaic Trisomy 21 Causing Isolated Transient Abnormal Myelopoiesis. American journal of medical genetics. Part A. 2025-02-25. PMID:39995092. |
we present here a case study of a neonate diagnosed with t21 mosaicism and tam who did not exhibit the typical phenotypic features of down syndrome (ds), but displayed hematologic abnormalities, in addition to hepatosplenomegaly. |
2025-02-25 |
2025-02-27 |
Not clear |
| Mikayla Shaffer, John Patrick T Co, Karen Donelan, Brian G Skotko, Amy Torres, Jonathan P Winickoff, Stephanie L Santor. Successful (and Unsuccessful) Recruitment Approaches and Participant Loss in a Down Syndrome Survey. American journal on intellectual and developmental disabilities. vol 130. issue 2. 2025-02-25. PMID:39999870. |
we recruited caregivers of individuals ages 0-21 with down syndrome (ds) to complete an electronic survey. |
2025-02-25 |
2025-02-28 |
human |
| Emily K Schworer, Anna J Esbense. Computer and tablet assessments of executive function in youth with Down syndrome: feasibility and predictors of performance. International journal of developmental disabilities. vol 71. issue 2. 2025-02-24. PMID:39990087. |
feasibility of direct assessments is at the forefront of preparation for future clinical trials targeting cognition and executive functioning for individuals with down syndrome (ds). |
2025-02-24 |
2025-02-26 |
Not clear |
| Andres Sola, Alex Sandberg, Caitlin Pham, Alexandra Revier, Mia Hebinck, Alexandra Penney, Pablo Caviedes, Sunil Kumar, Ann-Charlotte Granholm, Daniel A Linseman, Daniel A Parede. Polyamine biosynthesis dysregulation in Alzheimer's disease and Down syndrome cellular models. bioRxiv : the preprint server for biology. 2025-02-20. PMID:39974945. |
individuals with down syndrome (ds) frequently develop early onset alzheimer's disease (ad) with pathological hallmarks closely resembling ad due to several triplicated genes on chromosome 21. |
2025-02-20 |
2025-02-23 |
Not clear |
| Nicole R West, Kalpana Hanthanan Arachchilage, Sara Knaack, Masoumeh Hosseini, Ryan D Risgaard, Shawn MacGregor, Pubudu Kumarage, Jose L Martinez, Daifeng Wang, Andre M M Sousa, Anita Bhattacharyy. Single-nucleus analysis reveals dysregulated oxidative phosphorylation in Down syndrome basal forebrain at birth. bioRxiv : the preprint server for biology. 2025-02-20. PMID:39975363. |
basal forebrain cholinergic neurons (bfcns) are integral to learning, attention, and memory, and are prone to degeneration in down syndrome (ds), alzheimer's disease, and other neurodegenerative diseases. |
2025-02-20 |
2025-02-23 |
Not clear |
| Flavia Padoan, Rossella Stifano, Milena Brugnara, Matteo Guarnaroli, Michele Piazza, Silvana Lauriola, Giorgio Piacentini, Angelo Pietrobelli, Luca Pecorar. Kidney Function and Size in Children With Down Syndrome: A Cross-Sectional Study. Nephrology (Carlton, Vic.). vol 30. issue 2. 2025-02-19. PMID:39970950. |
down syndrome (ds) is associated with a high prevalence of congenital heart, gastrointestinal, and endocrine anomalies, as well as a heightened risk for kidney and urinary tract abnormalities. |
2025-02-19 |
2025-02-23 |
Not clear |
| Julia B Barrón-Martínez, Judith Salvador-Cru. Executive function abilities in Mexican people with Down syndrome during the COVID-19 pandemic. Journal of intellectual & developmental disability. vol 50. issue 1. 2025-02-17. PMID:39957524. |
the aim was to explore the executive function profile of a group of mexican people with down syndrome (ds) aged 12-30 years during the covid-19 pandemic. |
2025-02-17 |
2025-02-23 |
Not clear |
| Karoline Pahsini, Sabine Marinschek, Elisabeth Beckenbach, Eva Z Reininghaus, Nina Dalkner, Marion Russell, Asa N Russell, Sophie Stoesslein, Peter J Scheer, Marguerite Dunitz-Schee. Tube weaning in children with Down's Syndrome - "waiting is no option". Appetite. 2025-02-14. PMID:39952295. |
down syndrome (ds) is one of the most common genetic disorders and often associated with feeding problems and tube feeding. |
2025-02-14 |
2025-02-18 |
Not clear |
| Hisaho Yamaguchi, Yuki Oda, Gaku Aoki, Yasushi Orihashi, Hironori Miyazaki, Masako Morimoto, Sachiko Yamada, Mitsuyoshi Yoshida, Yoshiyuki Okad. Reproducibility of Tongue Pressure Values in Adults With Down Syndrome. Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry. vol 45. issue 1. 2025-02-14. PMID:39948706. |
down syndrome (ds) involves an extra chromosome 21 and tongue hypotonicity. |
2025-02-14 |
2025-02-16 |
Not clear |
| B E Orimadegun, O F Akinnusi, O F Ashubu, I A Salaudee. Comparative Analysis of Plasma Lipids and Apolipoproteins in Children with Down Syndrome and Implications for Cardiovascular Risk. Archives of basic and applied medicine. vol 12. issue 2. 2025-02-14. PMID:39950186. |
children with down syndrome (ds) often exhibit dyslipidaemia, contributing to increased cardiovascular disease (cvd) risk. |
2025-02-14 |
2025-02-16 |
Not clear |
| B E Orimadegun, O F Akinnusi, O F Ashubu, I A Salaudee. Comparative Analysis of Plasma Lipids and Apolipoproteins in Children with Down Syndrome and Implications for Cardiovascular Risk. Archives of basic and applied medicine. vol 12. issue 2. 2025-02-14. PMID:39950186. |
children with down syndrome (ds) have unique lipid profiles, with elevated triglycerides and hdl-c but lower ldl-c, potentially impacting long-term cardiovascular risk. |
2025-02-14 |
2025-02-16 |
Not clear |
| Prachi Patel, Winnie Sun, Andrea Mataruga, Kinwah Fung, Robert Balog. The Incidence and Prevalence of Dementia Among Ontario Adults With and Without Intellectual and Developmental Disabilities. International journal of geriatric psychiatry. vol 40. issue 2. 2025-02-12. PMID:39939115. |
while the risk of dementia is well established among those with down syndrome (ds), there is limited research in persons with idd excluding ds (non-ds idd). |
2025-02-12 |
2025-02-15 |
Not clear |
| Javier García-Alba, Elisa M Molanes-López, Pilar Zuluaga, Cristina Bell-Fenellos, Lucía Vaquero, Eva Alfayate, Felipe García, Gloria Mateo, Fernando Modenhauer, José M Galván-Román, Ricardo Bajo, Alberto Fernánde. Cognitive markers for the distinction between asymptomatic and prodromal Alzheimer's disease in Down syndrome: Correlations with volumetric brain changes. Alzheimer's & dementia (Amsterdam, Netherlands). vol 17. issue 1. 2025-02-12. PMID:39935889. |
motivated by the difficulties in detecting cognitive deterioration in the context of down syndrome (ds), we aimed to identify markers of prodromal alzheimer's disease (ad) in this population. |
2025-02-12 |
2025-02-14 |
Not clear |
| Sharon J Krinsky-McHale, Cynthia M Kovacs, Joseph H Lee, Tracy A Listwan, Deborah I Pang, Nicole Schupf, Benjamin Tycko, Warren B Zigman, Wayne Silverma. Validity of one-time assessments for identifying prodromal Alzheimer's disease in adults with Down syndrome. Alzheimer's & dementia (Amsterdam, Netherlands). vol 17. issue 1. 2025-02-12. PMID:39935890. |
new alzheimer's disease (ad) treatments have created an urgent need for accurate early diagnosis of high-risk adults with down syndrome (ds), distinguishing prodromal ds-ad symptoms from lifelong cognitive impairments. |
2025-02-12 |
2025-02-14 |
Not clear |
| Aitana Viejo, Maite Fernández-Urquiza, Eliseo Diez-Itz. Narrative microstructure and macrostructure in adolescents with Down syndrome and Williams syndrome. Frontiers in psychology. vol 16. 2025-02-12. PMID:39936017. |
down syndrome (ds) and williams syndrome (ws) are genetic neurodevelopmental disorders associated with intellectual disability, showing contrasting linguistic profiles with asymmetries in grammatical (ds weakness/ws strength) vs. pragmatic abilities (ds strength/ws weakness). |
2025-02-12 |
2025-02-14 |
human |
| Chisato Jimbo, Kouhei Hagino, Daichi Suzuki, Tomoki Yaguchi, Marei Omori, Daisuke Harama, Kotaro Umezawa, Sayaka Hamaguchi, Fumi Ishikawa, Seiko Hirai, Kenji Toyokuni, Tatsuki Fukuie, Yukihiro Ohya, Kiwako Yamamoto-Hanad. Hospital-based Introduction of Untested High-risk Foods for Down Syndrome Infant with Severe Food Protein-induced Enterocolitis Syndrome: A Case Report. JMA journal. vol 8. issue 1. 2025-02-10. PMID:39926064. |
down syndrome (ds) is a risk factor for severe food protein-induced enterocolitis syndrome (fpies), with ds patients tending to have multiple-food fpies. |
2025-02-10 |
2025-02-13 |
Not clear |
| Kira A Cozzolino, Lynn Sanford, Samuel Hunter, Kayla Molison, Benjamin Erickson, Meaghan C S Courvan, Taylor Jones, Deepa Ajit, Matthew D Galbraith, Joaquín M Espinosa, David Bentley, Mary Ann Allen, Robin D Dowell, Dylan J Taatje. Mediator kinase inhibition suppresses hyperactive interferon signaling in Down syndrome. eLife. vol 13. 2025-02-10. PMID:39928031. |
hyperactive interferon (ifn) signaling is a hallmark of down syndrome (ds), a condition caused by trisomy 21 (t21); strategies that normalize ifn signaling could benefit this population. |
2025-02-10 |
2025-02-13 |
Not clear |
| Dagmar Schnabl, Marwin Eller, David Trojer, Vera Wiesmueller, Franz Sebastian Schwindling, Ines Kapferer-Seebache. Cleansing efficacy of an auto-cleaning device versus an oscillating- rotating toothbrush in home use. A pilot study in individuals with down syndrome. Clinical oral investigations. vol 29. issue 2. 2025-02-10. PMID:39928199. |
we aimed to investigate, whether automatic toothbrushes could benefit people with down syndrome (ds). |
2025-02-10 |
2025-02-13 |
Not clear |
| Brianna Piro-Gambetti, Sharon Krinsky-McHale, Cynthia Kovacs, Benjamin Handen, Bradley Christian, Charles M Laymon, Davneet Minhas, Weiquan Luo, Dasoo Milton Yoon, Victoria L Fleming, Emily Schworer, Heather Kirkorian, Sigan L Hartle. Eye Tracking as a Tool for Detecting Alzheimer's Disease in People With Down Syndrome. Journal of intellectual disability research : JIDR. 2025-02-10. PMID:39929153. |
adults with down syndrome (ds) experience an increased risk of alzheimer's disease (ad). |
2025-02-10 |
2025-02-13 |
Not clear |
| Amanallah Soltani, Susan Wiley, Pamela Williams-Arya, Emily K Hoffman, Anna J Esbense. Examining the Relation Between Sleep Problems and Behavioural Challenges in Youth With Down Syndrome. Journal of intellectual disability research : JIDR. 2025-02-10. PMID:39929193. |
the connection between sleep problems and behavioural challenges in individuals with down syndrome (ds) has been a central focus of research across different age groups. |
2025-02-10 |
2025-02-13 |
Not clear |