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Views of educators working with pupils with Down syndrome on their roles and responsibilities and factors related to successful inclusion.
Boundy L, Hargreaves S, Baxter R, Holton S, Burgoyne K. Boundy L, et al. Res Dev Disabil. 2023 Nov;142:104617. doi: 10.1016/j.ridd.2023.104617. Epub 2023 Oct 11. Res Dev Disabil. 2023. PMID: 37832326 Free article.
Factors associated with successful inclusion cover training and support, planning and preparation as well as attitudes, confidence and competence of educators. ...Ultimately this paper highlights the views of those responsible for educating pupils with Down syndrome and th …
Factors associated with successful inclusion cover training and support, planning and preparation as well as attitudes, confidence an …
Economic evaluation of prenatal screening for fetal aneuploidies in Thailand.
Wongkrajang P, Jittikoon J, Udomsinprasert W, Talungchit P, Sangroongruangsri S, Turongkaravee S, Chaikledkaew U. Wongkrajang P, et al. PLoS One. 2023 Sep 15;18(9):e0291622. doi: 10.1371/journal.pone.0291622. eCollection 2023. PLoS One. 2023. PMID: 37713438 Free PMC article.
Historically, there has been a lack of cost-effectiveness data regarding the inclusion of universal non-invasive prenatal testing (NIPT) for trisomy 21, 18, and 13 in the benefit package of the Universal Health Coverage (UHC) in Thailand. ...
Historically, there has been a lack of cost-effectiveness data regarding the inclusion of universal non-invasive prenatal testing (NI …
Timing of Alzheimer's Disease by Intellectual Disability Level in Down Syndrome.
Hartley SL, Fleming V, Schworer EK, Peven J, Handen BL, Krinsky-McHale S, Hom C, Lee L, Tudorascu DL, Laymon C, Minhas D, Luo W, Cohen A, Zaman S, Ances BM, Mapstone M, Head E, Lai F, Rosas HD, Klunk W, Christian B; Alzheimer Biomarker Consortium-Down Syndrome. Hartley SL, et al. J Alzheimers Dis. 2023;95(1):213-225. doi: 10.3233/JAD-230200. J Alzheimers Dis. 2023. PMID: 37482997 Free PMC article.
CONCLUSION: Findings provide robust evidence of a similar time course in AD trajectory across premorbid ID levels, laying the groundwork for the inclusion of individuals with DS with a variety of IQ levels in clinical AD trials....
CONCLUSION: Findings provide robust evidence of a similar time course in AD trajectory across premorbid ID levels, laying the groundwork for …
Quality of life in adults with Down syndrome: A mixed methods systematic review.
Ijezie OA, Healy J, Davies P, Balaguer-Ballester E, Heaslip V. Ijezie OA, et al. PLoS One. 2023 May 1;18(5):e0280014. doi: 10.1371/journal.pone.0280014. eCollection 2023. PLoS One. 2023. PMID: 37126503 Free PMC article.
The synthesised findings were grouped into the 8 core domains of quality of life: personal development, self-determination, interpersonal relations, social inclusion, rights, emotional, physical and material well-being. Of the 39 studies, 30 (76.92%) reported on emotional …
The synthesised findings were grouped into the 8 core domains of quality of life: personal development, self-determination, interpersonal re …
Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study.
Boerwinkle AH, Gordon BA, Wisch J, Flores S, Henson RL, Butt OH, McKay N, Chen CD, Benzinger TLS, Fagan AM, Handen BL, Christian BT, Head E, Mapstone M, Rafii MS, O'Bryant S, Lai F, Rosas HD, Lee JH, Silverman W, Brickman AM, Chhatwal JP, Cruchaga C, Perrin RJ, Xiong C, Hassenstab J, McDade E, Bateman RJ, Ances BM; Alzheimer's Biomarker Consortium-Down Syndrome; Dominantly Inherited Alzheimer Network. Boerwinkle AH, et al. Lancet Neurol. 2023 Jan;22(1):55-65. doi: 10.1016/S1474-4422(22)00408-2. Lancet Neurol. 2023. PMID: 36517172 Free PMC article.
Individuals with Down syndrome aged at least 35 years might benefit from early intervention and warrant future inclusion in clinical trials, particularly given the relatively high incidence of Down syndrome. ...
Individuals with Down syndrome aged at least 35 years might benefit from early intervention and warrant future inclusion in clinical …
Self-advocates with Down syndrome research the lived experiences of COVID-19 lockdowns in Aotearoa New Zealand.
Vaccarino F, Vaccarino Z, Armstrong D, Borkin E, Hewitt A, Oswin A, Quick C, Smith E, Glew A. Vaccarino F, et al. J Appl Res Intellect Disabil. 2023 Mar;36(2):300-309. doi: 10.1111/jar.13059. Epub 2022 Dec 2. J Appl Res Intellect Disabil. 2023. PMID: 36458448 Free PMC article.
AIM: This study aims to describe the lived experiences of people with Down syndrome during the pandemic lockdowns in Aotearoa New Zealand to add evidence in order to inform systemic advocacy. METHOD: A mixed-methods approach positioned within an inclusive research paradigm …
AIM: This study aims to describe the lived experiences of people with Down syndrome during the pandemic lockdowns in Aotearoa New Zealand to …
Increased rate of respiratory symptoms in children with Down syndrome: a 2-year web-based parent-reported prospective study.
Eijsvoogel NB, Verstegen RHJ, van Well GTJ, van Hout RWNM, de Vries E. Eijsvoogel NB, et al. Eur J Pediatr. 2022 Dec;181(12):4079-4089. doi: 10.1007/s00431-022-04634-1. Epub 2022 Oct 3. Eur J Pediatr. 2022. PMID: 36192547 Free PMC article.
Caregivers received a baseline questionnaire with follow-up 1-2 years after inclusion. Caregivers received a weekly questionnaire about respiratory symptoms, fever, antibiotic prescriptions, doctor's visits, and consequences for school and work attendance. ...
Caregivers received a baseline questionnaire with follow-up 1-2 years after inclusion. Caregivers received a weekly questionnaire abo …
Autism and Down syndrome: early identification and diagnosis.
Diniz NLF, Parlato-Oliveira E, Pimenta PGA, Araújo LA, Valadares ER. Diniz NLF, et al. Arq Neuropsiquiatr. 2022 Jun;80(6):620-630. doi: 10.1590/0004-282X-ANP-2021-0156. Arq Neuropsiquiatr. 2022. PMID: 35946706 Free PMC article.
It has been indicated in the literature that early detection and timely accurate diagnosis, in association with an intervention, may benefit development, quality of life and social inclusion....
It has been indicated in the literature that early detection and timely accurate diagnosis, in association with an intervention, may benefit …
Detection of Brain Tau Pathology in Down Syndrome Using Plasma Biomarkers.
Janelidze S, Christian BT, Price J, Laymon C, Schupf N, Klunk WE, Lott I, Silverman W, Rosas HD, Zaman S, Mapstone M, Lai F, Ances BM, Handen BL, Hansson O. Janelidze S, et al. JAMA Neurol. 2022 Aug 1;79(8):797-807. doi: 10.1001/jamaneurol.2022.1740. JAMA Neurol. 2022. PMID: 35789365 Free PMC article.
CONCLUSIONS AND RELEVANCE: Plasma p-tau217 is a very accurate blood-based biomarker of both tau and Abeta pathological brain changes in DS that could help guide screening and enrichment strategies for inclusion of individuals with DS in future AD clinical trials, especiall …
CONCLUSIONS AND RELEVANCE: Plasma p-tau217 is a very accurate blood-based biomarker of both tau and Abeta pathological brain changes in DS t …
Why do French women refuse to have Down's syndrome screening by maternal serum testing? A mixed methods study.
Lafarge C, Larrieu G, Ville I. Lafarge C, et al. Midwifery. 2022 Jul;110:103351. doi: 10.1016/j.midw.2022.103351. Epub 2022 Apr 21. Midwifery. 2022. PMID: 35489166 Free article.
Rather, women's position appears to be driven by a holistic conception of care-based monitoring, values of inclusivity and a desire to remain in control of their pregnancy. CONCLUSIONS: It is essential that women feel accepted and supported in their choice to refuse MST. . …
Rather, women's position appears to be driven by a holistic conception of care-based monitoring, values of inclusivity and a desire t …
Controversies in implementing non-invasive prenatal testing in a public antenatal care program.
Salvesen KÅB, Glad R, Sitras V. Salvesen KÅB, et al. Acta Obstet Gynecol Scand. 2022 Jun;101(6):577-580. doi: 10.1111/aogs.14351. Epub 2022 Mar 24. Acta Obstet Gynecol Scand. 2022. PMID: 35332520 Free PMC article.
Women's autonomy and an inclusive society for all individuals are highly valued in Norway. ...
Women's autonomy and an inclusive society for all individuals are highly valued in Norway. ...
Adults with Down syndrome in randomized clinical trials targeting prevention of Alzheimer's disease.
Silverman W, Krinsky-McHale SJ, Zigman WB, Schupf N; New York Aging Research Program. Silverman W, et al. Alzheimers Dement. 2022 Oct;18(10):1736-1743. doi: 10.1002/alz.12520. Epub 2021 Dec 7. Alzheimers Dement. 2022. PMID: 34873819 Free PMC article.
DISCUSSION: Significant decline over a 2- to 3-year period for a prospective placebo group of adults with Down syndrome enrolled in clinical prevention trials can only be expected when inclusion is limited to adults older than 45 years of age....
DISCUSSION: Significant decline over a 2- to 3-year period for a prospective placebo group of adults with Down syndrome enrolled in clinical …
Eliminating the gap between the use of assistive technologies and the inclusion of people with intellectual disabilities in leisure activities.
Dratsiou I, Metaxa M, Romanopoulou E, Dolianiti F, Spachos D, Bamidis PD. Dratsiou I, et al. Health Informatics J. 2021 Apr-Jun;27(2):14604582211005004. doi: 10.1177/14604582211005004. Health Informatics J. 2021. PMID: 33876674 Free article.
For families of PDS/PID, professionals, non-formal caregivers and volunteers, the challenge is to appreciate the benefits of ICT Tools in promoting inclusion. The aim of this study is to present the interdisciplinary and multidimensional scope of the DS Leisure project aim …
For families of PDS/PID, professionals, non-formal caregivers and volunteers, the challenge is to appreciate the benefits of ICT Tools in pr …
Analysing Touchscreen Gestures: A Study Based on Individuals with Down Syndrome Centred on Design for All.
Martin-Gutierrez J, Del Rio Guerra MS. Martin-Gutierrez J, et al. Sensors (Basel). 2021 Feb 13;21(4):1328. doi: 10.3390/s21041328. Sensors (Basel). 2021. PMID: 33668488 Free PMC article.
There has been a conscious shift towards developing increasingly inclusive applications. However, despite this fact, most research has focused on supporting those with visual or hearing impairments and less attention has been paid to cognitive impairments. ...
There has been a conscious shift towards developing increasingly inclusive applications. However, despite this fact, most research ha …
Protein phosphatase PPM1B inhibits DYRK1A kinase through dephosphorylation of pS258 and reduces toxic tau aggregation.
Lee YH, Im E, Hyun M, Park J, Chung KC. Lee YH, et al. J Biol Chem. 2021 Jan-Jun;296:100245. doi: 10.1074/jbc.RA120.015574. Epub 2021 Jan 8. J Biol Chem. 2021. PMID: 33380426 Free PMC article.
The human DYRK1A gene is mapped to chromosome 21, and the protein is associated with the formation of inclusion bodies in AD. For example, DYRK1A directly phosphorylates multiple serine and threonine residues of tau, including Thr212. ...
The human DYRK1A gene is mapped to chromosome 21, and the protein is associated with the formation of inclusion bodies in AD. For exa …
Evaluation of Full-Body Gestures Performed by Individuals with Down Syndrome: Proposal for Designing User Interfaces for All Based on Kinect Sensor.
Del Rio Guerra MS, Martin-Gutierrez J. Del Rio Guerra MS, et al. Sensors (Basel). 2020 Jul 15;20(14):3930. doi: 10.3390/s20143930. Sensors (Basel). 2020. PMID: 32679704 Free PMC article.
The ever-growing and widespread use of touch, face, full-body, and 3D mid-air gesture recognition sensors in domestic and industrial settings is serving to highlight whether interactive gestures are sufficiently inclusive, and whether or not they can be executed by all use …
The ever-growing and widespread use of touch, face, full-body, and 3D mid-air gesture recognition sensors in domestic and industrial setting …
Cerebrospinal fluid and blood Aβ levels in Down syndrome patients with and without dementia: a meta-analysis study.
Du Y, Chen L, Jiao Y, Cheng Y. Du Y, et al. Aging (Albany NY). 2019 Dec 20;11(24):12202-12212. doi: 10.18632/aging.102560. Epub 2019 Dec 20. Aging (Albany NY). 2019. PMID: 31860872 Free PMC article.
We performed a systematic search of the PubMed and Web of Science and identified 27 studies for inclusion in the meta-analysis. Random-effects meta-analysis indicated that the levels of blood Abeta(1-40) and Abeta(1-42) were significantly elevated in patients with DS compa …
We performed a systematic search of the PubMed and Web of Science and identified 27 studies for inclusion in the meta-analysis. Rando …
Teaching Preschoolers With Down Syndrome Using Augmentative and Alternative Communication Modeling During Small Group Dialogic Reading.
Quinn ED, Kaiser AP, Ledford JR. Quinn ED, et al. Am J Speech Lang Pathol. 2020 Feb 7;29(1):80-100. doi: 10.1044/2019_AJSLP-19-0017. Epub 2019 Nov 7. Am J Speech Lang Pathol. 2020. PMID: 31697898 Free PMC article.
Effects were examined using a multiple probe across behaviors design with 4 children with DS. To simulate typical dialogic reading routines in inclusive classrooms, a strategy called Read, Ask, Answer, Prompt (Binger, Kent-Walsh, Ewing, & Taylor, 2010) was applied duri …
Effects were examined using a multiple probe across behaviors design with 4 children with DS. To simulate typical dialogic reading routines …
Accelerated bio-cognitive aging in Down syndrome: State of the art and possible deceleration strategies.
Franceschi C, Garagnani P, Gensous N, Bacalini MG, Conte M, Salvioli S. Franceschi C, et al. Aging Cell. 2019 Jun;18(3):e12903. doi: 10.1111/acel.12903. Epub 2019 Feb 15. Aging Cell. 2019. PMID: 30768754 Free PMC article. Review.
Furthermore, a series of recent studies have found that DS persons display elevated levels of age biomarkers, thus supporting the notion that DS is a progeroid trait. Nowadays, due to the progressive advancements in social inclusion processes and medical assistance, DS per …
Furthermore, a series of recent studies have found that DS persons display elevated levels of age biomarkers, thus supporting the notion tha …
Facilitating informed choice about non-invasive prenatal testing (NIPT): a systematic review and qualitative meta-synthesis of women's experiences.
Cernat A, De Freitas C, Majid U, Trivedi F, Higgins C, Vanstone M. Cernat A, et al. BMC Pregnancy Childbirth. 2019 Jan 14;19(1):27. doi: 10.1186/s12884-018-2168-4. BMC Pregnancy Childbirth. 2019. PMID: 30642270 Free PMC article.
RESULTS: Thirty empirical primary qualitative research studies were eligible for inclusion. Women preferred to learn about NIPT from their clinicians, but they expressed dissatisfaction with the quality and quantity of information provided during counselling and often soug …
RESULTS: Thirty empirical primary qualitative research studies were eligible for inclusion. Women preferred to learn about NIPT from …
Being a dad to a child with Down's syndrome: Overcoming the challenges to adjustment.
Ridding A, Williams J. Ridding A, et al. J Appl Res Intellect Disabil. 2019 May;32(3):678-690. doi: 10.1111/jar.12563. Epub 2019 Jan 11. J Appl Res Intellect Disabil. 2019. PMID: 30632665 Free PMC article.
The present study aimed to investigate fathers' experiences of parenting a child with Down's syndrome (DS), their contributions, influences on family functioning and inclusion in their child's support provision. METHOD: Semi-structured interviews were conducted with 15 fat …
The present study aimed to investigate fathers' experiences of parenting a child with Down's syndrome (DS), their contributions, influences …
Plasmid-based gap-repair recombineered transgenes reveal a central role for introns in mutually exclusive alternative splicing in Down Syndrome Cell Adhesion Molecule exon 4.
Haussmann IU, Ustaoglu P, Brauer U, Hemani Y, Dix TC, Soller M. Haussmann IU, et al. Nucleic Acids Res. 2019 Feb 20;47(3):1389-1403. doi: 10.1093/nar/gky1254. Nucleic Acids Res. 2019. PMID: 30541104 Free PMC article.
We then developed gap-repair recombineering to very efficiently manipulate these large reporter plasmids in Escherichia coli using restriction enzymes or sgRNA/Cas9 DNA scission to capitalize on the many benefits of plasmids in phiC31 integrase-mediated transgenesis. Using these …
We then developed gap-repair recombineering to very efficiently manipulate these large reporter plasmids in Escherichia coli using restricti …
Restoring microglial and astroglial homeostasis using DNA immunization in a Down Syndrome mouse model.
Illouz T, Madar R, Biragyn A, Okun E. Illouz T, et al. Brain Behav Immun. 2019 Jan;75:163-180. doi: 10.1016/j.bbi.2018.10.004. Epub 2018 Oct 25. Brain Behav Immun. 2019. PMID: 30389461 Free PMC article.
Anti-Abeta(1-11) vaccination induced antibody production and facilitated clearance of soluble oligomers and small extracellular inclusions of Abeta from the hippocampus and cortex of Ts65Dn mice. ...
Anti-Abeta(1-11) vaccination induced antibody production and facilitated clearance of soluble oligomers and small extracellular inclusion …
Dyrk1A overexpression leads to increase of 3R-tau expression and cognitive deficits in Ts65Dn Down syndrome mice.
Yin X, Jin N, Shi J, Zhang Y, Wu Y, Gong CX, Iqbal K, Liu F. Yin X, et al. Sci Rep. 2017 Apr 4;7(1):619. doi: 10.1038/s41598-017-00682-y. Sci Rep. 2017. PMID: 28377597 Free PMC article.
In the present study, we investigated the regulation of endogenous tau exon 10 splicing by Dyrk1A. We found that inhibition of Dyrk1A enhanced tau exon 10 inclusion, leading to an increase in 4R-tau/3R-tau ratio in differentiated-human neuronal progenitors and in the neona …
In the present study, we investigated the regulation of endogenous tau exon 10 splicing by Dyrk1A. We found that inhibition of Dyrk1A enhanc …
Comprehensive chromosome screening and gene expression analysis from the same biopsy in human preimplantation embryos.
Marin D, Wang Y, Tao X, Scott RT Jr, Treff NR. Marin D, et al. Mol Hum Reprod. 2017 May 1;23(5):330-338. doi: 10.1093/molehr/gax014. Mol Hum Reprod. 2017. PMID: 28369516 Free PMC article.
Further optimization of this protocol with other CCS platforms and inclusion of more target genes will provide innumerable research and clinical applications, such as discovery of biomarkers for embryonic reproductive potential and characterization of the transcriptomic si …
Further optimization of this protocol with other CCS platforms and inclusion of more target genes will provide innumerable research a …
DYRK1A regulates Hap1-Dcaf7/WDR68 binding with implication for delayed growth in Down syndrome.
Xiang J, Yang S, Xin N, Gaertig MA, Reeves RH, Li S, Li XJ. Xiang J, et al. Proc Natl Acad Sci U S A. 2017 Feb 14;114(7):E1224-E1233. doi: 10.1073/pnas.1614893114. Epub 2017 Jan 30. Proc Natl Acad Sci U S A. 2017. PMID: 28137862 Free PMC article.
Hap1 forms stigmoid bodies (SBs), unique neuronal cytoplasmic inclusions of unknown function that are enriched in hypothalamic neurons. ...
Hap1 forms stigmoid bodies (SBs), unique neuronal cytoplasmic inclusions of unknown function that are enriched in hypothalamic neuron …
Patient-Health Care Provider Conversations About Prenatal Genetic Screening: Recommendation or Personal Choice.
Colicchia LC, Holland CL, Tarr JA, Rubio DM, Rothenberger SD, Chang JC. Colicchia LC, et al. Obstet Gynecol. 2016 Jun;127(6):1145-1152. doi: 10.1097/AOG.0000000000001433. Obstet Gynecol. 2016. PMID: 27159763 Free PMC article.
Few conversations (1.5%) included all College-recommended topics. Inclusion of College-recommended topics did not affect women's screening choices. ...
Few conversations (1.5%) included all College-recommended topics. Inclusion of College-recommended topics did not affect women's scre …
Incorporation of dried blood alpha fetoprotein into traditional first trimester Down syndrome screening service.
Carmichael J, Krantz D, Liu HP, Janik D, Hallahan T. Carmichael J, et al. Prenat Diagn. 2015 Jul;35(7):703-8. doi: 10.1002/pd.4596. Epub 2015 May 13. Prenat Diagn. 2015. PMID: 25846256 Free PMC article.
Adding in nasal bone increased detection to 98% while reducing false positive rates to 4.1% to 4.7%. CONCLUSION: Inclusion of dried blood AFP into traditional first trimester screening improves detection while optimizing contingent protocols so that cell-free fetal DNA tes …
Adding in nasal bone increased detection to 98% while reducing false positive rates to 4.1% to 4.7%. CONCLUSION: Inclusion of dried b …
Differential induction and spread of tau pathology in young PS19 tau transgenic mice following intracerebral injections of pathological tau from Alzheimer's disease or corticobasal degeneration brains.
Boluda S, Iba M, Zhang B, Raible KM, Lee VM, Trojanowski JQ. Boluda S, et al. Acta Neuropathol. 2015 Feb;129(2):221-37. doi: 10.1007/s00401-014-1373-0. Epub 2014 Dec 24. Acta Neuropathol. 2015. PMID: 25534024 Free PMC article.
Filamentous tau pathologies are hallmark lesions of several neurodegenerative tauopathies including Alzheimer's disease (AD) and corticobasal degeneration (CBD) which show cell type-specific and topographically distinct tau inclusions. Growing evidence supports templated t …
Filamentous tau pathologies are hallmark lesions of several neurodegenerative tauopathies including Alzheimer's disease (AD) and corticobasa …
Communication difficulties perceived by parents of children with developmental disorders.
Sun IY, Fernandes FD. Sun IY, et al. Codas. 2014 Jul-Aug;26(4):270-5. doi: 10.1590/2317-1782/201420130024. Codas. 2014. PMID: 25211685 Free article. English, Portuguese.
INTRODUCTION: The child's inclusion in his/her social-cultural context is very important to his/her adaptation and well-being. ...
INTRODUCTION: The child's inclusion in his/her social-cultural context is very important to his/her adaptation and well-being. ...
Human chromosome 21 orthologous region on mouse chromosome 17 is a major determinant of Down syndrome-related developmental cognitive deficits.
Zhang L, Meng K, Jiang X, Liu C, Pao A, Belichenko PV, Kleschevnikov AM, Josselyn S, Liang P, Ye P, Mobley WC, Yu YE. Zhang L, et al. Hum Mol Genet. 2014 Feb 1;23(3):578-89. doi: 10.1093/hmg/ddt446. Epub 2013 Sep 16. Hum Mol Genet. 2014. PMID: 24041763 Free PMC article.
Our results demonstrated that the Hsa21 orthologous region on Mmu17 is a major determinant of DS-related developmental cognitive deficits. Therefore, the inclusion of the three copies of this Hsa21 orthologous region in mouse models is necessary for unraveling the mechanis …
Our results demonstrated that the Hsa21 orthologous region on Mmu17 is a major determinant of DS-related developmental cognitive deficits. T …
Prospective assessment of the Hong Kong Hospital Authority universal Down syndrome screening programme.
Sahota DS, Leung WC, Chan WP, To WW, Lau ET, Leung TY. Sahota DS, et al. Hong Kong Med J. 2013 Apr;19(2):101-8. Hong Kong Med J. 2013. PMID: 23535668 Free article.
DESIGN: Population-based cohort study in the period July 2010 to June 2011 inclusive. SETTING: Four Hong Kong Hospital Authority Departments of Obstetrics and Gynaecology and a central university-based laboratory for maternal serum processing and risk determination. ...
DESIGN: Population-based cohort study in the period July 2010 to June 2011 inclusive. SETTING: Four Hong Kong Hospital Authority Depa …
SNaPshot Assay in Quantitative Detection of Allelic Nondisjunction in Down Syndrome.
Ghosh D, Gochhait S, Banerjee D, Chatterjee A, Sinha S, Nandagopal K. Ghosh D, et al. Genet Test Mol Biomarkers. 2012 Oct;16(10):1226-35. doi: 10.1089/gtmb.2012.0083. Epub 2012 Aug 29. Genet Test Mol Biomarkers. 2012. PMID: 22931243 Free PMC article.
CONCLUSIONS: The SNaPshot assay is quantitative and permits multiplexing for detection of allelic nondisjunction. Inclusion of additional informative chromosome 21-specific markers may aid rapid aneuploidy detection, screening, and prenatal counseling of parents at risk of …
CONCLUSIONS: The SNaPshot assay is quantitative and permits multiplexing for detection of allelic nondisjunction. Inclusion of additi …
Dual-specificity tyrosine phosphorylation-regulated kinase 1A (Dyrk1A) modulates serine/arginine-rich protein 55 (SRp55)-promoted Tau exon 10 inclusion.
Yin X, Jin N, Gu J, Shi J, Zhou J, Gong CX, Iqbal K, Grundke-Iqbal I, Liu F. Yin X, et al. J Biol Chem. 2012 Aug 31;287(36):30497-506. doi: 10.1074/jbc.M112.355412. Epub 2012 Jul 5. J Biol Chem. 2012. PMID: 22767602 Free PMC article.
In the present study, we found that splicing factor SRp55 (serine/arginine-rich protein 55) promoted Tau exon 10 inclusion. Knockdown of SRp55 significantly promoted Tau exon 10 exclusion. The promotion of Tau exon 10 inclusion by SRp55 required the arginine/serine- …
In the present study, we found that splicing factor SRp55 (serine/arginine-rich protein 55) promoted Tau exon 10 inclusion. Knockdown …
Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe.
Wellesley D, Dolk H, Boyd PA, Greenlees R, Haeusler M, Nelen V, Garne E, Khoshnood B, Doray B, Rissmann A, Mullaney C, Calzolari E, Bakker M, Salvador J, Addor MC, Draper E, Rankin J, Tucker D. Wellesley D, et al. Eur J Hum Genet. 2012 May;20(5):521-6. doi: 10.1038/ejhg.2011.246. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234154 Free PMC article.
The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. ...
The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive …
Needs and challenges of daily life for people with Down syndrome residing in the city of Rome, Italy.
Bertoli M, Biasini G, Calignano MT, Celani G, De Grossi G, Digilio MC, Fermariello CC, Loffredo G, Luchino F, Marchese A, Mazotti S, Menghi B, Razzano C, Tiano C, Zambon Hobart A, Zampino G, Zuccalà G. Bertoli M, et al. J Intellect Disabil Res. 2011 Aug;55(8):801-20. doi: 10.1111/j.1365-2788.2011.01432.x. Epub 2011 Jun 13. J Intellect Disabil Res. 2011. PMID: 21668802 Free PMC article.
The findings of this study underscore the urgent need for more comprehensive inclusion in society of adults with DS and for the provision of support services to create an enabling environment for inclusion. ...It is argued herewith that policy of inclusion an …
The findings of this study underscore the urgent need for more comprehensive inclusion in society of adults with DS and for the provi …
Effectiveness of prenatal screening for Down syndrome on the basis of maternal age in Cape Town.
Urban MF, Stewart C, Ruppelt T, Geerts L. Urban MF, et al. S Afr Med J. 2011 Jan;101(1):45-8. doi: 10.7196/samj.4188. S Afr Med J. 2011. PMID: 21626982 Free article.
CONCLUSION: Prenatal screening and diagnosis for DS based on AMA is working ineffectively in the Cape Town health district assessed, and this appears to be representative of a broader trend in South Africa. Inclusion of fetal ultrasound in the process of prenatal screening …
CONCLUSION: Prenatal screening and diagnosis for DS based on AMA is working ineffectively in the Cape Town health district assessed, and thi …
"It's our job": qualitative study of family responses to ableism.
Neely-Barnes SL, Graff JC, Roberts RJ, Hall HR, Hankins JS. Neely-Barnes SL, et al. Intellect Dev Disabil. 2010 Aug;48(4):245-58. doi: 10.1352/1934-9556-48.4.245. Intellect Dev Disabil. 2010. PMID: 20722475 Free PMC article.
Themes evolving from the interviews included (a) support and lack of support, (b) inclusion and exclusion, and (c) the family members' roles during their interactions with the community. ...
Themes evolving from the interviews included (a) support and lack of support, (b) inclusion and exclusion, and (c) the family members …
Assessment of the ductus venosus, tricuspid blood flow and the nasal bone in second-trimester screening for trisomy 21.
Stressig R, Kozlowski P, Froehlich S, Siegmann HJ, Hammer R, Blumenstock G, Kagan KO. Stressig R, et al. Ultrasound Obstet Gynecol. 2011 Apr;37(4):444-9. doi: 10.1002/uog.7749. Ultrasound Obstet Gynecol. 2011. PMID: 20645398 Free article.
Receiver-operating characteristics curve analysis showed a slight but significant improvement in screening performance for trisomy 21 based on the inclusion of these markers. CONCLUSION: Second-trimester ultrasound screening for trisomy 21 based on maternal age with additi …
Receiver-operating characteristics curve analysis showed a slight but significant improvement in screening performance for trisomy 21 based …
Transactive response DNA-binding protein 43 burden in familial Alzheimer disease and Down syndrome.
Lippa CF, Rosso AL, Stutzbach LD, Neumann M, Lee VM, Trojanowski JQ. Lippa CF, et al. Arch Neurol. 2009 Dec;66(12):1483-8. doi: 10.1001/archneurol.2009.277. Arch Neurol. 2009. PMID: 20008652 Free PMC article.
OBJECTIVE: To assess the transactive response DNA-binding protein 43 (TDP-43) burden in familial forms of Alzheimer disease (FAD) and Down syndrome (DS) to determine whether TDP-43 inclusions are also present. DESIGN: Using standard immunohistochemical techniques, we exami …
OBJECTIVE: To assess the transactive response DNA-binding protein 43 (TDP-43) burden in familial forms of Alzheimer disease (FAD) and Down s …
Heterogeneous nuclear ribonucleoprotein E3 modestly activates splicing of tau exon 10 via its proximal downstream intron, a hotspot for frontotemporal dementia mutations.
Wang Y, Gao L, Tse SW, Andreadis A. Wang Y, et al. Gene. 2010 Feb 1;451(1-2):23-31. doi: 10.1016/j.gene.2009.11.006. Epub 2009 Nov 12. Gene. 2010. PMID: 19914360 Free PMC article.
Positions +3 to +19 of the intron downstream of exon 10 define a hotspot: Point mutations in it result in tauopathies. All these mutations increase exon 10 inclusion except for mutation +19, which almost entirely excludes exon 10. ...
Positions +3 to +19 of the intron downstream of exon 10 define a hotspot: Point mutations in it result in tauopathies. All these mutations i …
Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation.
Maiz N, Valencia C, Kagan KO, Wright D, Nicolaides KH. Maiz N, et al. Ultrasound Obstet Gynecol. 2009 May;33(5):512-7. doi: 10.1002/uog.6330. Ultrasound Obstet Gynecol. 2009. PMID: 19338027 Free article.
We examined the performance of two screening strategies: first, assessment of the a-wave in all patients and, second, first-stage screening using the combined test in all patients followed by second-stage assessment of the a-wave only in those with an intermediate risk of one in …
We examined the performance of two screening strategies: first, assessment of the a-wave in all patients and, second, first-stage screening …
Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation.
Kagan KO, Cicero S, Staboulidou I, Wright D, Nicolaides KH. Kagan KO, et al. Ultrasound Obstet Gynecol. 2009 Mar;33(3):259-64. doi: 10.1002/uog.6318. Ultrasound Obstet Gynecol. 2009. PMID: 19248005 Free article.
In the validation dataset, screening by the combined test and using a risk cut-off of 1 : 100 detected 90% of the cases with trisomy 21 for a false-positive rate of 4%. Inclusion of the nasal bone increased the detection rate to 92% for a false-positive rate of 2.9%. ...
In the validation dataset, screening by the combined test and using a risk cut-off of 1 : 100 detected 90% of the cases with trisomy 21 for …
Special at school but lonely at home: an alternative friendship group for adolescents with Down syndrome.
D'Haem J. D'Haem J. Downs Syndr Res Pract. 2008 Oct;12(2):107-11. doi: 10.3104/practice.2012. Downs Syndr Res Pract. 2008. PMID: 19026282 Free article. Review.
Friends play a significant role in mental and physical health; however, individuals with Down syndrome and other developmental disabilities, even those who are included in general education programmes, have not developed friendships as hoped. After a decade of inclusion an …
Friends play a significant role in mental and physical health; however, individuals with Down syndrome and other developmental disabilities, …
Increased dosage of Dyrk1A alters alternative splicing factor (ASF)-regulated alternative splicing of tau in Down syndrome.
Shi J, Zhang T, Zhou C, Chohan MO, Gu X, Wegiel J, Zhou J, Hwang YW, Iqbal K, Grundke-Iqbal I, Gong CX, Liu F. Shi J, et al. J Biol Chem. 2008 Oct 17;283(42):28660-9. doi: 10.1074/jbc.M802645200. Epub 2008 Jul 24. J Biol Chem. 2008. PMID: 18658135 Free PMC article.
Here, we demonstrate that Dyrk1A, a kinase encoded by a gene in the DS critical region, phosphorylates alternative splicing factor (ASF) at Ser-227, Ser-234, and Ser-238, driving it into nuclear speckles and preventing it from facilitating tau exon 10 inclusion. The increa …
Here, we demonstrate that Dyrk1A, a kinase encoded by a gene in the DS critical region, phosphorylates alternative splicing factor (ASF) at …
Early intervention in Vietnam.
Hodes M. Hodes M. Downs Syndr Res Pract. 2007 Jul;12(1):38-41. doi: 10.3104/essays.2021. Downs Syndr Res Pract. 2007. PMID: 17933093 Free article.
The success of this work has now led to the government of Vietnam wanting to move to the next stage and to begin to develop training for full inclusion of children with disabilities in the school system....
The success of this work has now led to the government of Vietnam wanting to move to the next stage and to begin to develop training for ful …
Evidence that we can change the profile from a study of inclusive education.
Buckley S, Bird G, Sacks B. Buckley S, et al. Downs Syndr Res Pract. 2006 Jun;9(3):51-3. doi: 10.3104/essays.294. Downs Syndr Res Pract. 2006. PMID: 16869375 Free article.
Drawing on data collected to explore the outcomes of fully inclusive education for school-age children with Down syndrome, the authors identify that the profile is seen in teenagers in special education settings but is not evident for teenagers in inclusive educatio …
Drawing on data collected to explore the outcomes of fully inclusive education for school-age children with Down syndrome, the author …
Effects of stimulus variation on the reinforcing capability of nonpreferred stimuli.
Koehler LJ, Iwata BA, Roscoe EM, Rolider NU, O'Steen LE. Koehler LJ, et al. J Appl Behav Anal. 2005 Winter;38(4):469-84. doi: 10.1901/jaba.2005.102-04. J Appl Behav Anal. 2005. PMID: 16463528 Free PMC article.
By contrast, a second participant's data showed no facilitative effect for the varied delivery of NP stimuli and that the inclusion of an HQ stimulus in the varied arrangement obscured the reinforcing effects of the HQ stimulus. ...
By contrast, a second participant's data showed no facilitative effect for the varied delivery of NP stimuli and that the inclusion o …
Chromosomal abnormalities among offspring of childhood-cancer survivors in Denmark: a population-based study.
Winther JF, Boice JD Jr, Mulvihill JJ, Stovall M, Frederiksen K, Tawn EJ, Olsen JH. Winther JF, et al. Am J Hum Genet. 2004 Jun;74(6):1282-5. doi: 10.1086/421473. Epub 2004 Apr 21. Am J Hum Genet. 2004. PMID: 15106125 Free PMC article.
The occurrence of abnormal karyotypes diagnosed in these offspring and also in any pregnancies terminated following prenatal diagnosis of a chromosome abnormality was determined from the Danish Cytogenetic Registry. After exclusion of hereditary cases and inclusion of the …
The occurrence of abnormal karyotypes diagnosed in these offspring and also in any pregnancies terminated following prenatal diagnosis of a …
Umbilical cord diameter at 11-14 weeks of gestation: relation to chromosomal defects.
Rembouskos G, Cicero S, Papadopoulos V, Tripsanas C, Nicolaides KH. Rembouskos G, et al. Ultrasound Obstet Gynecol. 2004 Mar;23(3):237-9. doi: 10.1002/uog.969. Ultrasound Obstet Gynecol. 2004. PMID: 15027010 Free article.
CONCLUSION: At 11-14 weeks of gestation the UCD of fetuses with trisomy 21 is significantly smaller than normal but the magnitude of the difference is too small for useful inclusion of this measurement in screening....
CONCLUSION: At 11-14 weeks of gestation the UCD of fetuses with trisomy 21 is significantly smaller than normal but the magnitude of the dif …
Aggregate formation and synaptic abnormality induced by DSCR1.
Ma H, Xiong H, Liu T, Zhang L, Godzik A, Zhang Z. Ma H, et al. J Neurochem. 2004 Mar;88(6):1485-96. doi: 10.1046/j.1471-4159.2003.02294.x. J Neurochem. 2004. PMID: 15009650 Free article.
We report that expression of DSCR1 in several cell types, including primary neurons, causes microtubule-dependent aggresome-like inclusion body formation. Disease-associated huntingtin (Q148) and ataxin-3 (Q84) co-localize with DSCR1 aggregates. ...
We report that expression of DSCR1 in several cell types, including primary neurons, causes microtubule-dependent aggresome-like inclusio …
Nitration of tau protein is linked to neurodegeneration in tauopathies.
Horiguchi T, Uryu K, Giasson BI, Ischiropoulos H, LightFoot R, Bellmann C, Richter-Landsberg C, Lee VM, Trojanowski JQ. Horiguchi T, et al. Am J Pathol. 2003 Sep;163(3):1021-31. doi: 10.1016/S0002-9440(10)63462-1. Am J Pathol. 2003. PMID: 12937143 Free PMC article.
Taken together, these findings imply that nitrative injury is directly linked to the formation of filamentous tau inclusions....
Taken together, these findings imply that nitrative injury is directly linked to the formation of filamentous tau inclusions....
Measurement of nasal bone length at 11-14 weeks of pregnancy and its potential role in Down syndrome risk assessment.
Orlandi F, Bilardo CM, Campogrande M, Krantz D, Hallahan T, Rossi C, Viora E. Orlandi F, et al. Ultrasound Obstet Gynecol. 2003 Jul;22(1):36-9. doi: 10.1002/uog.167. Ultrasound Obstet Gynecol. 2003. PMID: 12858300 Free article.
CONCLUSIONS: Absence of the nasal bone can be used as a marker for Down syndrome in the first trimester of pregnancy. Inclusion of the nasal bone in the current first-trimester screening protocol along with nuchal translucency, free beta-hCG and PAPP-A can achieve high det …
CONCLUSIONS: Absence of the nasal bone can be used as a marker for Down syndrome in the first trimester of pregnancy. Inclusion of th …
Comparison of fetal nasal bone assessment by ultrasound at 11-14 weeks and by postmortem X-ray in trisomy 21: a prospective observational study.
Larose C, Massoc P, Hillion Y, Bernard JP, Ville Y. Larose C, et al. Ultrasound Obstet Gynecol. 2003 Jul;22(1):27-30. doi: 10.1002/uog.169. Ultrasound Obstet Gynecol. 2003. PMID: 12858298 Free article.
CONCLUSION: The high incidence of absent nasal bones in first-trimester fetuses with trisomy 21 is compatible with a developmental delay. Prior to inclusion of nasal bone assessment into risk calculation for trisomy 21, the independence of absence of nasal bones by ultraso …
CONCLUSION: The high incidence of absent nasal bones in first-trimester fetuses with trisomy 21 is compatible with a developmental delay. Pr …
Association of Down's syndrome and water fluoride level: a systematic review of the evidence.
Whiting P, MacDonagh M, Kleijnen J. Whiting P, et al. BMC Public Health. 2001;1:6. doi: 10.1186/1471-2458-1-6. Epub 2001 Jul 24. BMC Public Health. 2001. PMID: 11495635 Free PMC article. Review.
Studies in all languages which investigated the incidence of Down's syndrome in areas with different levels of fluoride in their water supplies were included. Study inclusion and quality was assessed independently by 2 reviewers. A qualitative analysis was conducted. ...
Studies in all languages which investigated the incidence of Down's syndrome in areas with different levels of fluoride in their water suppl …
Getting in and staying there: children with Down syndrome in mainstream schools.
Cuckle P. Cuckle P. Downs Syndr Res Pract. 1999 Sep;6(2):95-9. doi: 10.3104/reviews.100. Downs Syndr Res Pract. 1999. PMID: 11276984 Free article. Review.
There are, however, wide variations between Local Education Authorities, which is attributed mainly to differing implementation of inclusion policies. Data is drawn together from a number of sources (both previously published and unpublished) which describe some of the pro …
There are, however, wide variations between Local Education Authorities, which is attributed mainly to differing implementation of inclus …
Fetal heart rate in chromosomally abnormal fetuses.
Liao AW, Snijders R, Geerts L, Spencer K, Nicolaides KH. Liao AW, et al. Ultrasound Obstet Gynecol. 2000 Dec;16(7):610-3. doi: 10.1046/j.1469-0705.2000.00292.x. Ultrasound Obstet Gynecol. 2000. PMID: 11169365 Free article.
CONCLUSIONS: Trisomy 21, trisomy 13 and Turner syndrome are associated with fetal tachycardia, whereas in trisomy 18 and triploidy there is fetal bradycardia. Inclusion of fetal heart rate in a first-trimester screening program for trisomy 21 by a combination of maternal a …
CONCLUSIONS: Trisomy 21, trisomy 13 and Turner syndrome are associated with fetal tachycardia, whereas in trisomy 18 and triploidy there is …
Teenagers with Down syndrome study algebra in High School.
Martinez EM. Martinez EM. Downs Syndr Res Pract. 1998;5(1):34-8. doi: 10.3104/case-studies.73. Downs Syndr Res Pract. 1998. PMID: 10890858 Free article.
The boy had problems with the integration and he did not attend the school full time. The inclusion, even when it was not perfect, provided the motivation to teach and to learn. ...
The boy had problems with the integration and he did not attend the school full time. The inclusion, even when it was not perfect, pr …
The social development of children with severe learning difficulties: a case study of an inclusive education initiative between two primary schools in Oxfordshire, UK.
Dew-Hughes D, Blandford S. Dew-Hughes D, et al. Downs Syndr Res Pract. 1999 Aug;6(1):1-11. doi: 10.3104/case-studies.92. Downs Syndr Res Pract. 1999. PMID: 10890242 Free article.
The theoretical stance arose through reviewing previous work, predominantly the debate on inclusive education, and the wider issues of human rights and equal opportunities embedded in the social development of people with disabilities. ...The project was designed to invest …
The theoretical stance arose through reviewing previous work, predominantly the debate on inclusive education, and the wider issues o …
A screening program for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A.
Spencer K, Souter V, Tul N, Snijders R, Nicolaides KH. Spencer K, et al. Ultrasound Obstet Gynecol. 1999 Apr;13(4):231-7. doi: 10.1046/j.1469-0705.1999.13040231.x. Ultrasound Obstet Gynecol. 1999. PMID: 10341399 Free article. Clinical Trial.
Alternatively, at a fixed detection rate of 70%, the false-positive rate would be 1%. The inclusion of biochemical parameters added an additional 16% to the detection rate obtained using NT and maternal age alone. ...
Alternatively, at a fixed detection rate of 70%, the false-positive rate would be 1%. The inclusion of biochemical parameters added a …
Age-adjusted ultrasound risk assessment for fetal Down's syndrome during the second trimester: description of the method and analysis of 142 cases.
Nyberg DA, Luthy DA, Resta RG, Nyberg BC, Williams MA. Nyberg DA, et al. Ultrasound Obstet Gynecol. 1998 Jul;12(1):8-14. doi: 10.1046/j.1469-0705.1998.12010008.x. Ultrasound Obstet Gynecol. 1998. PMID: 9697277 Free article.
Using AAURA and a threshold of 1: 200, 74% (105 of 142) of fetuses with Down's syndrome were identified, including 61.5% (24 of 39) from women aged less than 35 years, 67.2% (45 of 67) from women aged 35-39 years inclusively, and 100% (36 of 36) from women aged 40 years or …
Using AAURA and a threshold of 1: 200, 74% (105 of 142) of fetuses with Down's syndrome were identified, including 61.5% (24 of 39) from wom …
Alzheimer's disease. Beta-amyloid precursor protein expression in the nucleus basalis of Meynert.
Murphy GM Jr, Greenberg BD, Ellis WG, Forno LS, Salamat SM, Gonzalez-DeWhitt PA, Lowery DE, Tinklenberg JR, Eng LF. Murphy GM Jr, et al. Am J Pathol. 1992 Aug;141(2):357-61. Am J Pathol. 1992. PMID: 1386714 Free PMC article.
Other neurons in the severe cases showed incorporation of beta APP into large inclusions, which were also labeled with the NFT antiserum. However, some large inclusions in the severe cases were labeled by the NFT antiserum but contained no beta APP. ...
Other neurons in the severe cases showed incorporation of beta APP into large inclusions, which were also labeled with the NFT antise …
Causes of death to age 30 in Down syndrome.
Baird PA, Sadovnick AD. Baird PA, et al. Am J Hum Genet. 1988 Sep;43(3):239-48. Am J Hum Genet. 1988. PMID: 2970794 Free PMC article.
To look at the underlying cause of death (U.C.O.D.) data for Down syndrome (DS), we studied 324 DS individuals who died out of a total of 1,337 DS births occurring in 1,066,508 consecutive live births during the years 1952-81 inclusive. U.C.O.D. rates, separated into ICD-9 …
To look at the underlying cause of death (U.C.O.D.) data for Down syndrome (DS), we studied 324 DS individuals who died out of a total of 1, …
Monoclonal antibodies to Alzheimer neurofibrillary tangles. 2. Demonstration of a common antigenic determinant between ANT and neurofibrillary degeneration in progressive supranuclear palsy.
Dickson DW, Kress Y, Crowe A, Yen SH. Dickson DW, et al. Am J Pathol. 1985 Aug;120(2):292-303. Am J Pathol. 1985. PMID: 2411143 Free PMC article.
The determinant is not present in normal brain, aluminum-induced experimental tangles in the rabbit, Lewy bodies, Hirano bodies, or axonal filamentous inclusions of amyotrophic lateral sclerosis and giant axonal neuropathy. ...
The determinant is not present in normal brain, aluminum-induced experimental tangles in the rabbit, Lewy bodies, Hirano bodies, or axonal f …