[ASAP] Selective DYRK1A Inhibitor for the Treatment of Neurodegenerative Diseases: Alzheimer, Parkinson, Huntington, and Down Syndrome
ACS Medicinal Chemistry LettersDOI: 10.1021/acsmedchemlett.0c00346 (Source: ACS Medicinal Chemistry Letters)
Source: ACS Medicinal Chemistry Letters - July 9, 2020 Category: Chemistry Authors: Robert B. Kargbo* Source Type: research

Long non-coding RNA GAS5 expression in patients with Down syndrome.
Authors: Salemi M, Marchese G, Cordella A, Cannarella R, Barone C, Salluzzo MG, Calogero AE, Romano C Abstract Trisomy 21, also known as Down Syndrome (DS), is the most common chromosome abnormality and causes intellectual disability. Long non-coding RNA (lncRNA) growth arrest-specific 5 (GAS5), whose differential expression has recently been reported in patients with Klinefelter syndrome, has been addressed to play a role in the development of inflammatory and autoimmune diseases, vascular endothelial cells apoptosis and atherosclerosis, all being common features in patients with DS. Therefore, the aim of this stu...
Source: International Journal of Medical Sciences - July 7, 2020 Category: Biomedical Science Tags: Int J Med Sci Source Type: research

Inborn Errors of Adaptive Immunity in Down Syndrome
AbstractDown syndrome fits an immunophenotype of combined immunodeficiency with immunodysregulation, manifesting with increased susceptibility to infections, autoimmunity, autoinflammatory diseases, and hematologic malignancies. Qualitative and quantitative alterations in innate and adaptive immunity are found in most individuals with Down syndrome. However, there is substantial heterogeneity and no correlation between immunophenotype and clinical presentation. Previously, it was thought that the immunological changes in Down syndrome were caused by precocious aging. We emphasize in this review that the immune system in Do...
Source: Journal of Clinical Immunology - July 7, 2020 Category: Allergy & Immunology Source Type: research

A rare Down syndrome foetus with de novo 21q;21q rearrangements causing false negative results in non-invasive prenatal testing: a case report
Non-invasive prenatal testing (NIPT) has been established as a routine prenatal screening to assess the risk of common foetal aneuploidy disorder (trisomy 21, 18, and 13). NIPT has high sensitivity and high sp... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 6, 2020 Category: Genetics & Stem Cells Authors: Hui-Hui Xu, Mei-Zhen Dai, Kai Wang, Yang Zhang, Fei-Yan Pan and Wei-Wu Shi Tags: Case report Source Type: research

The Acquisition of Survey Knowledge by Individuals With Down Syndrome
People with Down syndrome often exhibit deficiencies in wayfinding activities, particularly route learning (e.g., Courbois et al., 2013; Davis et al., 2014; Farran et al., 2015). Evidence concerning more sophisticated survey learning has been sparse. In the research reported here, two experiments are reported that evaluated survey learning of youth with DS and typically developing children (TD) matched on mental age. In Experiment 1, participants learned two overlapping routes consisting of three turns each through a virtual environment depicting 9 square city blocks. Following acquisition, they were tested on multiple mea...
Source: Frontiers in Human Neuroscience - July 3, 2020 Category: Neuroscience Source Type: research

GC-MS analysis of seven metabolites for the screening of pregnant women with Down Syndrome fetuses
Publication date: Available online 2 July 2020Source: Journal of Pharmaceutical and Biomedical AnalysisAuthor(s): Ece Özkan, Emirhan Nemutlu, Mehmet Sinan Beksac, Sedef Kır (Source: Journal of Pharmaceutical and Biomedical Analysis)
Source: Journal of Pharmaceutical and Biomedical Analysis - July 2, 2020 Category: Drugs & Pharmacology Source Type: research

Correction to: Reproducibility of foot dimensions measured from 3-dimensional foot scans in children and adolescents with Down syndrome
An amendment to this paper has been published and can be accessed via the original article. (Source: Journal of Foot and Ankle Research)
Source: Journal of Foot and Ankle Research - July 2, 2020 Category: Podiatry Authors: Nirmeen M. Hassan, Andrew K. Buldt, Nora Shields, Karl B. Landorf, Hylton B. Menz and Shannon E. Munteanu Tags: Correction Source Type: research

Commentary on "Psychometric Properties of Segmental Assessment of Trunk Control in Infants and Toddlers With Down Syndrome".
Commentary on "Psychometric Properties of Segmental Assessment of Trunk Control in Infants and Toddlers With Down Syndrome". Pediatr Phys Ther. 2020 Jul;32(3):257 Authors: Martin K, Siebert E PMID: 32604371 [PubMed - as supplied by publisher] (Source: Physical Therapy)
Source: Physical Therapy - July 1, 2020 Category: Physiotherapy Authors: Martin K, Siebert E Tags: Pediatr Phys Ther Source Type: research

An Analysis of Hospital Mortality After Cardiac Operations in Children with Down Syndrome
Children with Down syndrome (DS) have lower mortality compared to non-syndromic (NS) children after atrioventricular septal defect (AVSD) repair. Limited data exist regarding hospital mortality and utilization after other congenital heart disease (CHD) operations in DS. We compared hospital mortality and utilization after CHD operations in both populations and hypothesized that the survival benefit in children with DS is not consistent across CHD lesions. The Texas Inpatient Public Use Datafile was queried for all patients (Source: Seminars in Thoracic and Cardiovascular Surgery)
Source: Seminars in Thoracic and Cardiovascular Surgery - July 1, 2020 Category: Cardiovascular & Thoracic Surgery Authors: Gurpreet S. Dhillon, Nancy S. Ghanayem, Christopher R. Broda, Seema R. Lalani, Carlos M. Mery, Lara S. Shekerdemian, Steven J. Staffa, Shaine A. Morris Tags: CONGENITAL – Original Submission Source Type: research

Major birth defects in the Brazilian side of the triple border: a population-based cross-sectional study
ConclusionCleft Lip and/or Palate and Gastroschisis prevalence were higher than those found in the literature. This findings may suggest a distinct epidemiological behavior regarding major birth defects in the region. The work opens new perspectives for birth defects risk factors in the triple-border. (Source: Archives of Public Health)
Source: Archives of Public Health - June 30, 2020 Category: International Medicine & Public Health Source Type: research

A non-mosaic transchromosomic mouse model of Down syndrome carrying the long arm of human chromosome 21
Animal models of Down syndrome (DS), trisomic for human chromosome 21 (HSA21) genes or orthologs, provide insights into better understanding and treatment options. The only existing transchromosomic (Tc) mouse DS model, Tc1, carries a HSA21 with over 50 protein coding genes (PCGs) disrupted. Tc1 is mosaic, compromising interpretation of results. Here, we 'clone' the 34 MB long arm of HSA21 (HSA21q) as a mouse artificial chromosome (MAC). Through multiple steps of microcell-mediated chromosome transfer, we created a new Tc DS mouse model, Tc(HSA21q;MAC)1Yakaz ('TcMAC21'). TcMAC21 is not mosaic and contains 93% of HSA21q PCG...
Source: eLife - June 29, 2020 Category: Biomedical Science Tags: Genetics and Genomics Source Type: research

Expressive language development in adolescents with Down syndrome and fragile X syndrome: change over time and the role of family-related factors
ConclusionsOur results suggest that, during the adolescent period for males with DS or FXS, there is an increase in the amount of talk produced in conversational contexts, but also a decrease in the quality of the language produced. In addition, our results indicate syndrome-specificity for aspects of expressive language development and reinforce the protective role of family-related factors. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - June 27, 2020 Category: Neurology Source Type: research

SARS-CoV-2 Infection in Patients with Down Syndrome, Congenital Heart Disease, and Pulmonary Hypertension: Is Down Syndrome a Risk Factor?
The authors declare no conflicts of interest. (Source: The Journal of Pediatrics)
Source: The Journal of Pediatrics - June 27, 2020 Category: Pediatrics Authors: Usha S. Krishnan, Sankaran S. Krishnan, Shipra Jain, Mara B. Chavolla-Calderon, Matthew Lewis, Wendy K. Chung, Erika B. Rosenzweig. Tags: Brief Reports Source Type: research

Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study
Publication date: 27 June–3 July 2020Source: The Lancet, Volume 395, Issue 10242Author(s): Juan Fortea, Eduard Vilaplana, Maria Carmona-Iragui, Bessy Benejam, Laura Videla, Isabel Barroeta, Susana Fernández, Miren Altuna, Jordi Pegueroles, Víctor Montal, Silvia Valldeneu, Sandra Giménez, Sofía González-Ortiz, Laia Muñoz, Teresa Estellés, Ignacio Illán-Gala, Olivia Belbin, Valle Camacho, Liam Reese Wilson, Tiina Annus (Source: The Lancet)
Source: The Lancet - June 26, 2020 Category: General Medicine Source Type: research

Biomarkers in Down syndrome can help us understand Alzheimer's disease
Publication date: 27 June–3 July 2020Source: The Lancet, Volume 395, Issue 10242Author(s): Elizabeth Head, Beau Ances (Source: The Lancet)
Source: The Lancet - June 26, 2020 Category: General Medicine Source Type: research

Benefits of incorporating hiit programs for individuals with down syndrome
Apply It! • Health and fitness professionals will be able to use the information in this article to design exercise prescription programs for people with Down syndrome. (Source: ACSMs Health and Fitness Journal)
Source: ACSMs Health and Fitness Journal - June 25, 2020 Category: Sports Medicine Tags: Features Source Type: research

A review on genetic polymorphism in MTHFR gene with Down syndrome and leukemia
Publication date: Available online 23 June 2020Source: Meta GeneAuthor(s): Murugesan Loganathan, Babu Kavipriya, Puthamohan Vinayaga Moorthi, Basavaraju Preethi, Devaraj Ilakkiyapavai, Balasubramani Rubadevi, Abdul Nazer Moosa Harsha Raziyabi, Kathiresan Divyasri, Danaiah Pemula Gowtham, Sivakumar Utthameshwaran, Magendhiran Anandha Kumar (Source: Meta Gene)
Source: Meta Gene - June 25, 2020 Category: Genetics & Stem Cells Source Type: research

Autoimmune Mechanisms of Interferon Hypersensitivity and Neurodegenerative Diseases: Down Syndrome.
This study tests the hypothesis that identifying IFN-stimulated response element (ISRE) control sites on Ch21 will mark novel candidate genes for DS/T21-related IFN hypersensitivity and neuropathology not previously reported to be associated with IFN functions. We performed whole chromosome searches of online databases. The general ISRE consensus and gamma interferon activation consensus sequences (GAS) were used for identifying IFN-stimulated response elements. Candidate genes were defined as those possessing two or more ISRE and/or GAS control sites within and/or upstream of the transcription start site. A literature sea...
Source: Autoimmune Diseases - June 23, 2020 Category: Allergy & Immunology Tags: Autoimmune Dis Source Type: research

Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome
We report high levels of IFN- αR1, IFN-αR2, and IFN-γR2 expression on the surface of monocytes and EBV-transformed-B (EBV-B) cells from studying 45 DS patients. Total and phosphorylated STAT1 (STAT1 and pSTAT1) levels were constitutively high in unstimulated and IFN-α- and IFN-γ-stimulated monocytes from DS patients but low er than those in patients with GOFSTAT1 mutations. Following stimulation with IFN- α or -γ, but not with IL-6 or IL-21, pSTAT1 and IFN-γ activation factor (GAF) DNA-binding activities were significantly higher in the EBV-B cells of DS patients than in cont...
Source: Journal of Clinical Immunology - June 22, 2020 Category: Allergy & Immunology Source Type: research

Cognitive impairments in adult mice with RIP140 overexpression in neural stem cells.
Abstract Receptor-interacting protein 140 (RIP140) is a transcription co-regulator of several transcription factors and a signal transduction regulator. RIP140 was recently implicated in the regulation of cognitive functions. The gene that encodes RIP140 is located on chromosome 21. An increase in RIP140 expression was observed in the fetal cerebral cortex and hippocampus in Down syndrome patients who exhibited strong cognitive disabilities. We hypothesized that RIP140 overexpression affects cognitive function in adult neural development. The present study used a Cre-dependent adeno-associated virus to selectively...
Source: Behavioural Brain Research - June 21, 2020 Category: Neurology Authors: Wang X, Ren S, Yu W, Mu Q, Ye S, Cui C, Guo J Tags: Behav Brain Res Source Type: research

Noninvasive assessment of autonomic modulation of heart rate variability in the Ts65Dn mouse model of Down syndrome: A proof of principle study
ConclusionThis work showed that the techniques described here are sufficient for this type of study. However, future studies involving the use of more selective pharmacological agents and/or genetic manipulations will be key to advance a mechanistic understanding of cardiac autonomic regulation in DS. (Source: Physiological Reports)
Source: Physiological Reports - June 19, 2020 Category: Physiology Authors: Adriano L. Roque, Mark W. Johnson, Melissa R. Stasko, Luiz C. Abreu, Talita D. Silva, Alberto C.S. Costa Tags: ORIGINAL RESEARCH Source Type: research

Mind-Mindedness and Stress in Parents of Children with Developmental Disorders.
Abstract Relations between mind-mindedness (assessed using the describe-your-child interview) and stress were investigated in parents of children with developmental disorders (ADHD, n = 51, ASD, n = 23, Down's Syndrome, n = 38, and 22q11.2 Deletion Syndrome, 22q11.2DS, n = 32) and typically-developing children (n = 89). Mind-mindedness did not differ across diagnostic groups, and mind-mindedness predicted parenting stress across groups. Parenting stress was lowest in the typically-developing and Down's Syndrome groups. Across all groups, mind-mi...
Source: Journal of Autism and Developmental Disorders - June 19, 2020 Category: Psychiatry Authors: Larkin F, Hayiou-Thomas ME, Arshad Z, Leonard M, Williams FJ, Katseniou N, Malouta RN, Marshall CRP, Diamantopoulou M, Tang E, Mani S, Meins E Tags: J Autism Dev Disord Source Type: research

Noninvasive assessment of autonomic modulation of heart rate variability in the Ts65Dn mouse model of Down syndrome: A proof of principle study
ConclusionThis work showed that the techniques described here are sufficient for this type of study. However, future studies involving the use of more selective pharmacological agents and/or genetic manipulations will be key to advance a mechanistic understanding of cardiac autonomic regulation in DS. (Source: Physiological Reports)
Source: Physiological Reports - June 19, 2020 Category: Physiology Authors: Adriano L. Roque, Mark W. Johnson, Melissa R. Stasko, Luiz C. Abreu, Talita D. Silva, Alberto C.S. Costa Tags: ORIGINAL RESEARCH Source Type: research

Decreased Pulmonary Arterial Compliance is a Predictor for Poor Outcomes in Infants with Isolated Atrial Septal Defect and Pulmonary Hypertension
This study aimed to investigate risk factors for poor outcomes in infants with isolated atrial septal defect (ASD) and pulmonary hypertension who had unexpectedly fatal course. We retrospectively reviewed 22 infants with isolated ASD and pulmonary hypertension, and analyzed the relationship between clinical outcomes and pulmonary hemodynamic parameters including pulmonary arterial resistance (Rp) and compliance (Cp) based on cardiac catheterization among them. Age and weight at cardiac catheterization were 5 (1 –11) months and 4.9 (3.1–9.2) kg, respectively. There were 17 individuals with Down syndrome. Pulmona...
Source: Pediatric Cardiology - June 18, 2020 Category: Cardiology Source Type: research

Further understanding the connection between Alzheimer's disease and Down syndrome.
This article provides a summary of discussions, including noting areas of emerging science and discovery, considerations for future studies, and identifying open gaps in our understanding for future focus. PMID: 32544310 [PubMed - as supplied by publisher] (Source: The Journal of Alzheimers Association)
Source: The Journal of Alzheimers Association - June 17, 2020 Category: Psychiatry Tags: Alzheimers Dement Source Type: research

YY1-induced lncRNA DSCR8 promotes the progression of ovarian cancer via miR-3192-5p/YY1 axis.
In this study, we aimed to search the function of DSCR8 in ovarian cancer. qRT-PCR analysis assessed the expression of DSCR8 in ovarian cancer cells. EdU assay and colony formation assay was used to test cell proliferation. Flow cytometry analysis and TUNEL assay were conducted to investigate cell apoptosis. Wound healing assay and transwell invasion assay assessed cell migration and invasion. DSCR8 was significantly up-regulated in ovarian cancer cells. Inhibited DSCR8 could suppress the progression of ovarian cancer. Also, YY1 could activate the expression of DSCR8 in ovarian cancer cells. Meanwhile, DSCR8/miR-3192-5p/YY...
Source: Biomedicine and pharmacotherapy = Biomedecine and pharmacotherapie - June 17, 2020 Category: Drugs & Pharmacology Authors: You Q, Yao Y, Wu J, Cheng C, Li Y, Yuan H Tags: Biomed Pharmacother Source Type: research

IJERPH, Vol. 17, Pages 4294: Evidences from Clinical Trials in Down Syndrome: Diet, Exercise and Body Composition
ía-Galbis Down syndrome (DS) is related to diseases like congenital heart disease, obstructive sleep apnea, obesity and overweight. Studies focused on DS associated with obesity and overweight are still scarce. The main objective of this work was to analyze the relationship between dietary intervention, physical exercise and body composition, in DS with overweight and obesity. This review is based on the PRISMA guidelines (Preferred Reporting Items for Systematic reviews and Meta-Analyses). Selection criteria for this analysis were: publications between January 1997 and December 2019; DS individuals with overwei...
Source: International Journal of Environmental Research and Public Health - June 16, 2020 Category: Environmental Health Authors: Mart ínez-Espinosa Molina Vila Reig Garc ía-Galbis Tags: Review Source Type: research

Clinical Characteristics and Prognosis of 27 Patients with Childhood Acute Megakaryoblastic Leukemia.
CONCLUSIONS Children with non-DS-AMKL have a high degree of malignancy and are prone to early recurrence with a poor prognosis, whereas the prognosis of DS-AMKL is relatively good. Recurrence after treatment and remission after 2 courses of treatment are important factors influencing the prognosis of childhood AMKL. Recurrence after transplantation is the leading cause of death in transplantation patients. PMID: 32532951 [PubMed - as supplied by publisher] (Source: Medical Science Monitor)
Source: Medical Science Monitor - June 15, 2020 Category: Research Tags: Med Sci Monit Source Type: research

Streptococcus downii sp. nov., isolated from the oral cavity of a teenager with Down syndrome.
ernández M Abstract A new α-haemolytic streptococcal strain has been isolated from the dental plaque of a teenager with Down syndrome. Genetic and taxonomic analyses place this Streptococcus within the oralis group. It is a Gram-stain-positive, non-motile, non-spore-forming spherical alpha-haemolytic coccus arranged in chains, and it ferments a large number of monosaccharides and disaccharides, as well as polymeric carbohydrates. It differs biochemically from closely related species of Streptococcus due to its production of α-galactosidase, β-galactosidase and N-acetyl-β-d-glucosaminid...
Source: International Journal of Systematic and Evolutionary Microbiology - June 15, 2020 Category: Microbiology Authors: Martínez-Lamas L, Limeres-Posse J, Diz-Dios P, Álvarez-Fernández M Tags: Int J Syst Evol Microbiol Source Type: research

Behavioral Audiology Procedures in Children With Down Syndrome.
Conclusion The results provide a guide to optimal audiologic test procedures for children with DS, as the standard audiologic guidelines for typically developing infants and children do not apply. PMID: 32539476 [PubMed - as supplied by publisher] (Source: American Journal of Audiology)
Source: American Journal of Audiology - June 15, 2020 Category: Audiology Authors: Nightengale EE, Wolter-Warmerdam K, Yoon PJ, Daniels D, Hickey F Tags: Am J Audiol Source Type: research

The influence of sleep on language production modalities in preschool children with Down syndrome.
Abstract Evidence suggests that sleep may relate to oral language production in children with Down syndrome. However, these children are capable of using complex referential gestures as a compensation strategy for problems with oral production, and those with a greater productive oral vocabulary have less gestural vocabulary. The goal of this study was to explore whether sleep quality relates to oral and gestural production modalities in children with Down syndrome. We evaluated 36 preschool children with and without Down syndrome, paired by chronological age and gender, with similar sociodemographic backgrounds, ...
Source: Journal of Sleep Research - June 14, 2020 Category: Sleep Medicine Authors: Arias-Trejo N, Angulo-Chavira AQ, Demara B, Figueroa C, Edgin J Tags: J Sleep Res Source Type: research

Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome
In this study, microarray-based comparative genomic hybridization analysis identified complex rearrangements of chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome. Although the patient did not show up-slanting palpebral fissures and single transverse palmar creases, other symptoms were consistent with Down syn drome. Rearrangements were analyzed by whole-genome sequencing using Nanopore long-read sequencing. The analysis revealed that chromosome 21 was fragmented into seven segments and reassembled by six connected points. Among 12 breakpoints, 5 are located within the ...
Source: Human Genetics - June 13, 2020 Category: Genetics & Stem Cells Source Type: research

Liver transplantation from donors with Down Syndrome
Publication date: Available online 10 June 2020Source: Clinics and Research in Hepatology and GastroenterologyAuthor(s): Benjamin Fernandez, Chetana Lim, Claire Goumard, Fabiano Perdigao, Geraldine Rousseau, Eric Savier, Alessandra Mazzola, Filomena Conti, Olivier Scatton (Source: Clinics and Research in Hepatology and Gastroenterology)
Source: Clinics and Research in Hepatology and Gastroenterology - June 12, 2020 Category: Gastroenterology Source Type: research

Oncogenic Gata1 causes stage-specific megakaryocyte differentiation delay.
Abstract The megakaryocyte/erythroid Transient Myeloproliferative Disorder (TMD) in newborns with Down Syndrome (DS) occurs when N-terminal truncating mutations of the hemopoietic transcription factor GATA1, that produce GATA1short protein (GATA1s), are acquired early in development. Prior work has shown that murine GATA1s, by itself, causes a transient yolk sac myeloproliferative disorder. However, it is unclear where in the hemopoietic cellular hierarchy GATA1s exerts its effects to produce this myeloproliferative state. Here, through a detailed examination of hemopoiesis from murine GATA1s ES cells and GATA1s e...
Source: Haematologica - June 11, 2020 Category: Hematology Authors: Juban G, Sakakini N, Chagraoui H, Cruz Hernandez D, Cheng Q, Soady K, Stoilova B, Garnett C, Waithe D, Otto G, Doondeea J, Usukhbayar B, Karkoulia E, Alexiou M, Strouboulis J, Morrissey E, Roberts I, Porcher C, Vyas P Tags: Haematologica Source Type: research

Down Syndrome
New England Journal of Medicine,Volume 382, Issue 24, Page 2344-2352, June 2020. (Source: New England Journal of Medicine)
Source: New England Journal of Medicine - June 10, 2020 Category: Internal Medicine Authors: Marilyn J. Bull Source Type: research

Pregnancies and births in women with Down syndrome – An analysis based on the Medical Statistics of Swiss Hospitals
. (Source: Journal of Intellectual and Developmental Disability)
Source: Journal of Intellectual and Developmental Disability - June 9, 2020 Category: Disability Authors: Dagmar Orthmann Bless Verena Hofmann Source Type: research

GSE149538 Neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and brain size in Xenopus embryos
Contributors : Helen R Willsey ; A J WillseySeries Type : Expression profiling by high throughput sequencingOrganism : Xenopus tropicalisDYRK1A (dual specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A) is a high confidence autism risk gene that encodes a conserved kinase. In addition to autism, patients with putative loss of function variants in DYRK1A exhibit microcephaly, intellectual disability, developmental delay, and congenital anomalies of the kidney and urinary tract. DYRK1A is also located within the critical region for Down syndrome; therefore, understanding the role of DYRK1A in brain development is c...
Source: GEO: Gene Expression Omnibus - June 8, 2020 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Xenopus tropicalis Source Type: research

Addendum: Statement on nutritional supplements and piracetam for children with Down syndrome
Genetics in Medicine, Published online: 08 June 2020; doi:10.1038/s41436-020-0847-9Addendum: Statement on nutritional supplements and piracetam for children with Down syndrome (Source: Genetics in Medicine)
Source: Genetics in Medicine - June 8, 2020 Category: Genetics & Stem Cells Authors: Manisha Balwani Source Type: research

Psychometric Properties of Segmental Assessment of Trunk Control in Infants and Toddlers With Down Syndrome.
CONCLUSIONS: Trunk control appears to play a central role in gross motor function of infants and toddlers with DS. The SATCo has good psychometric properties in this population. WHAT THIS ADDS TO THE EVIDENCE: This study contributes to the literature on the psychometric properties of the SATCo and supports its use to measure trunk control in infants and toddlers with DS between the ages of 6 and 24 months. PMID: 32516220 [PubMed - as supplied by publisher] (Source: Physical Therapy)
Source: Physical Therapy - June 8, 2020 Category: Physiotherapy Authors: Flores M, Mitchell K, Bickley C, Da Silva CP Tags: Pediatr Phys Ther Source Type: research

Alzheimer ’s Disease in Down Syndrome: Progress in the Design and Conduct of Drug Prevention Trials
AbstractIndividuals with Down syndrome (DS) are at high risk for developing Alzheimer ’s disease (AD) pathology and this has provided significant insights into our understanding of the genetic basis of AD. The present review summarizes recent clinical, neuropathologic, imaging, and fluid biomarker studies of AD in DS (DSAD), highlighting the striking similarities, as well as some n otable differences, between DSAD and the more common late-onset form of AD (LOAD) in the general population, as well as the much rarer, autosomal-dominant form of AD (ADAD). There has been significant progress in our understanding of the n...
Source: CNS Drugs - June 6, 2020 Category: Neurology Source Type: research

Combined Periciliary Y-V Epicanthoplasty and Modified Hotz Procedure in Patients with Down Syndrome.
Authors: Park SK, Cho WK, Lee NY PMID: 32495534 [PubMed - in process] (Source: Korean Journal of Ophthalmology : KJO)
Source: Korean Journal of Ophthalmology : KJO - June 5, 2020 Category: Opthalmology Tags: Korean J Ophthalmol Source Type: research

Visuo-attentional correlates of Autism Spectrum Disorder (ASD) in children with Down syndrome: A comparative study with children with idiopathic ASD
Publication date: September 2020Source: Research in Developmental Disabilities, Volume 104Author(s): Jennifer M. Glennon, Hana D’Souza, Luke Mason, Annette Karmiloff-Smith, Michael S.C. Thomas (Source: Research in Developmental Disabilities)
Source: Research in Developmental Disabilities - June 4, 2020 Category: Disability Source Type: research

Reproducibility of foot dimensions measured from 3-dimensional foot scans in children and adolescents with Down syndrome
Children and adolescents with Down syndrome have a distinctive foot shape (such as wide and flat feet) that often leads to difficulty with footwear fitting. 3-dimensional (3D) scanning can accurately measure t... (Source: Journal of Foot and Ankle Research)
Source: Journal of Foot and Ankle Research - June 4, 2020 Category: Podiatry Authors: Nirmeen M. Hassan, Andrew K. Buldt, Nora Shields, Karl B. Landorf, Hylton B. Menz and Shannon E. Munteanu Tags: Research Source Type: research

Thyroid Function in Children with Down Syndrome in the Polish Population: A Case-Control Study.
CONCLUSION: Children with Down syndrome may have increased secretion of TSH, even when thyroid hormone and autoantibodies are normal, suggesting that an isolated increase in TSH does not predispose the patient to the development of thyroid disease. We also recommend that all patients with Down syndrome should be screened for thyroid dysgenesis, since they have thyroid dysfunction more frequently as compared to the general healthy population. PMID: 32536175 [PubMed - in process] (Source: Archives of Iranian Medicine)
Source: Archives of Iranian Medicine - June 1, 2020 Category: Middle East Health Authors: Zelazowska-Rutkowska B, Jakubiuk-Tomaszuk A, Cylwik B Tags: Arch Iran Med Source Type: research

GSE120801 Whole genome non-coding RNA profiling of the developing hippocampus of the Down syndrome mouse model Dp16(1)Yey
This study provides a map of the dysregulated lncRNAs and circRNAs in the DS developing hippocampus for the first time. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - May 31, 2020 Category: Genetics & Stem Cells Tags: Non-coding RNA profiling by high throughput sequencing Expression profiling by high throughput sequencing Mus musculus Source Type: research

Genome-wide miRNA profiling in plasma of pregnant women with down syndrome fetuses.
This study builds upon our previous study in DS placentas, where seven miRNAs were found to be significantly up-regulated. A total of 70 first-trimester plasma samples from pregnant women were included in the present study (35 samples with DS fetuses; 35 with euploid fetuses). Genome-wide miRNA profiling was performed in the pilot study using Affymetrix GeneChip™ miRNA 4.1 Array Strips (18 samples). Selected miRNAs were then analysed in the validation study using quantitative reverse transcription PCR (RT-qPCR; 52 samples). Based on the current pilot study results (12 miRNAs), our previous research on chorionic villi...
Source: Molecular Biology Reports - May 30, 2020 Category: Molecular Biology Authors: Zedníková I, Chylíková B, Šeda O, Korabečná M, Pazourková E, Břešťák M, Krkavcová M, Calda P, Hořínek A Tags: Mol Biol Rep Source Type: research

Mapping the corneal thickness and volume in patients with Down syndrome: a comparative population-based study
ABSTRACT Purpose: To measure the central-to-peripheral corneal thickness and its volume according to age and gender in 10-30-year-old patients with Down syndrome (DS) and in matched individuals without DS. Methods: In the report, 202 normal pattern right eyes of patients with Down syndrome and 190 right eyes of individuals without Down syndrome and compared averages using independent sample t-tests and multiple linear regression models. The measured variables included the apical corneal thickness; the minimum corneal thickness; the average thickness on rings at 2 mm (R2), 3 mm (R3), and 4 mm (R4); the corneal volume in the...
Source: Arquivos Brasileiros de Oftalmologia - May 29, 2020 Category: Opthalmology Source Type: research

PNPLA3 gene polymorphism is associated with liver steatosis in children with Down syndrome
Publication date: Available online 28 May 2020Source: Nutrition, Metabolism and Cardiovascular DiseasesAuthor(s): Diletta Valentini, Antonella Mosca, Chiara Di Camillo, Annalisa Crudele, Maria Rita Sartorelli, Vittorio Scoppola, Luigi Tarani, Alberto Villani, Massimiliano Raponi, Antonio Novelli, Anna Alisi (Source: Nutrition, Metabolism and Cardiovascular Diseases)
Source: Nutrition, Metabolism and Cardiovascular Diseases - May 29, 2020 Category: Nutrition Source Type: research

Keratoconus and corneal morphology in patients with Down syndrome at a pediatric hospital
Publication date: Available online 27 May 2020Source: Journal of American Association for Pediatric Ophthalmology and StrabismusAuthor(s): Lauren M. Imbornoni, Ronald E. Wise, Michael J. Taravella, Francis Hickey, Emily A. McCourt (Source: Journal of American Association for Pediatric Ophthalmology and Strabismus)
Source: Journal of American Association for Pediatric Ophthalmology and Strabismus - May 29, 2020 Category: Opthalmology Source Type: research

PNPLA3 gene polymorphism is associated with liver steatosis in children with Down syndrome
We, previously, demonstrated that children with Down syndrome (DS) exhibited a greater risk of steatosis than the general pediatric population. This trend is independent of obese phenotype, thus suggesting a role of genetic predisposition. Therefore, we investigated the prevalence of non-alcoholic fatty liver disease and metabolic syndrome (MetS) in function of genetic susceptibility and adipocytokine levels in children with DS. (Source: Nutrition, Metabolism, and Cardiovascular Diseases : NMCD)
Source: Nutrition, Metabolism, and Cardiovascular Diseases : NMCD - May 28, 2020 Category: Nutrition Authors: Diletta Valentini, Antonella Mosca, Chiara Di Camillo, Annalisa Crudele, Maria Rita Sartorelli, Vittorio Scoppola, Luigi Tarani, Alberto Villani, Massimiliano Raponi, Antonio Novelli, Anna Alisi Source Type: research