Research & Literature

Dermatoglyphics and Reproductive Risk in a Family with Robertsonian Translocation 14q;21q.

Kolgeci S, Kolgeci J, Azemi M, et al.

Acta informatica medica : AIM : journal of the Society for Medical Informatics of Bosnia & Herzegovina : casopis Drustva za medicinsku informatiku BiH 2015; (23(3)):178-83 doi:10.5455/aim.2015.23.179-183.

Functional independence of Taiwanese children with Down syndrome.

Lin HY, Chuang CK, Chen YJ, et al.

Developmental medicine and child neurology 2016; (58(5)):502-7 doi:10.1111/dmcn.12889.

Down Syndrome with Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, and Pulmonary Vein Stenosis.

Mahadevaiah G, Gupta M, Ashwath R

Texas Heart Institute journal 2015; (42(5)):458-61 doi:10.14503/THIJ-14-4256.

Down syndrome-A narrative review with a focus on anatomical features.

Arumugam A, Raja K, Venugopalan M, et al.

Clinical anatomy (New York, N.Y.) 2016; (29(5)):568-77 doi:10.1002/ca.22672.

Stakeholder Buy-In and Physician Education Improve Adherence to Guidelines for Down Syndrome.

Santoro SL, Martin LJ, Pleatman SI, Hopkin RJ

The Journal of pediatrics 2016; (171()):262-8.e1-2.

Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration.

Van Opstal D, Srebniak MI

Expert review of molecular diagnostics 2016; (16(5)):513-20 doi:10.1586/14737159.2016.1152890.

Association of Parental Age and the Type of Down Syndrome on the Territory of Bosnia and Herzegovina.

Sotonica M, Mackic-Djurovic M, Hasic S, et al.

Medical archives (Sarajevo, Bosnia and Herzegovina) 2016; (70(2)):88-91 doi:10.5455/medarh.2016.70.88-91.

Chorionic Villus Sampling, Early Amniocentesis, and Termination of Pregnancy Without Diagnostic Testing: Comparison of Fetal Risk Following Positive Non-invasive Prenatal Testing.

Zelig CM, Knutzen DM, Ennen CS, et al.

Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2016; (38(5)):441-445.e2.

Safety and efficacy of cognitive training plus epigallocatechin-3-gallate in young adults with Down's syndrome (TESDAD): a double-blind, randomised, placebo-controlled, phase 2 trial.

de la Torre R, de Sola S, Hernandez G, et al.

The Lancet. Neurology 2016; (15(8)):801-810 doi:10.1016/S1474-4422(16)30034-5.

Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update.

Bhatnagar N, Nizery L, Tunstall O, et al.

Current hematologic malignancy reports 2016; (11(5)):333-41 doi:10.1007/s11899-016-0338-x.

Ten-year trends in prevalence of Down syndrome in a developing country: impact of the maternal age and prenatal screening.

Kurtovic-Kozaric A, Mehinovic L, Malesevic R, et al.

European journal of obstetrics, gynecology, and reproductive biology 2016; (206()):79-83 doi:10.1016/j.ejogrb.2016.08.038.

Characterization of Thyroid Abnormalities in a Large Cohort of Children with Down Syndrome
.

Pierce MJ, LaFranchi SH, Pinter JD

Hormone research in paediatrics 2017; (87(3)):170-178 doi:10.1159/000457952.

The Early Presentation of Dementia in People with Down Syndrome: a Systematic Review of Longitudinal Studies.

Lautarescu BA, Holland AJ, Zaman SH

Neuropsychology review 2017; (27(1)):31-45 doi:10.1007/s11065-017-9341-9.

Discordant non-invasive prenatal testing (NIPT) - a systematic review.

Hartwig TS, Ambye L, Sørensen S, Jørgensen FS

Prenatal diagnosis 2017; (37(6)):527-539 doi:10.1002/pd.5049.

Congenital heart disease and cardiac procedural outcomes in patients with trisomy 21 and Turner syndrome.

Morales-Demori R

Congenital heart disease 2017; (12(6)):820-827 doi:10.1111/chd.12521.

Amniocentesis and chorionic villus sampling for prenatal diagnosis.

Alfirevic Z, Navaratnam K, Mujezinovic F

The Cochrane database of systematic reviews 2017; (9()):CD003252 doi:10.1002/14651858.CD003252.pub2.

Accuracy of Parental Perception of Nighttime Breathing in Children with Down Syndrome.

Friedman NR, Ruiz AG, Gao D, Ingram DG

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2018; (158(2)):364-367 doi:10.1177/0194599817726286.

Down Syndrome - Genetics and Cardiogenetics.

Plaiasu V

Maedica 2017; (12(3)):208-213.

Prenatal diagnosis of Down syndrome: A 13-year retrospective study.

Vičić A, Hafner T, Bekavac Vlatković I, et al.

Taiwanese journal of obstetrics & gynecology 2017; (56(6)):731-735 doi:10.1016/j.tjog.2017.10.004.

Evaluation of Microfluidics-FISH method in prenatal diagnosis.

Pietrzyk A, Ryłów M, Bryśkiewicz M, et al.

Ginekologia polska 2017; (88(12)):670-673 doi:10.5603/GP.a2017.0119.

Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing.

Brison N, Neofytou M, Dehaspe L, et al.

Prenatal diagnosis 2018; (38(4)):258-266 doi:10.1002/pd.5223.

The Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) Scale: Comprehensive Assessment of Psychopathology in Down Syndrome.

Dekker AD, Sacco S, Carfi A, et al.

Journal of Alzheimer's disease : JAD 2018; (63(2)):797-819 doi:10.3233/JAD-170920.

Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP.

Wiseman FK, Pulford LJ, Barkus C, et al.

Brain : a journal of neurology 2018; (141(8)):2457-2474 doi:10.1093/brain/awy159.

[Longer oral contraception history as a possible preventive factor against fetal trisomy 21 in advanced maternal age pregnancies].

Horányi D, Babay LÉ, Győrffy B, Nagy GR

Orvosi hetilap 2018; (159(28)):1146-1152 doi:10.1556/650.2018.31094.

Cardiovascular disease in Down syndrome.

Versacci P, Di Carlo D, Digilio MC, Marino B

Current opinion in pediatrics 2018; (30(5)):616-622 doi:10.1097/MOP.0000000000000661.

Evaluation of Pediatrician Adherence to the American Academy of Pediatrics Health Supervision Guidelines for Down Syndrome.

O'Neill ME, Ryan A, Kwon S, Binns HJ

American journal on intellectual and developmental disabilities 2018; (123(5)):387-398 doi:10.1352/1944-7558-123.5.387.

DYRK1A Protein, A Promising Therapeutic Target to Improve Cognitive Deficits in Down Syndrome.

Feki A, Hibaoui Y

Brain sciences 2018; (8(10)) doi:10.3390/brainsci8100187.

Traditional Prenatal Diagnosis: Past to Present.

Levy B, Stosic M

Methods in molecular biology (Clifton, N.J.) 2019; (1885()):3-22 doi:10.1007/978-1-4939-8889-1_1.

A schedule of gross motor development for children with Down syndrome.

Winders P, Wolter-Warmerdam K, Hickey F

Journal of intellectual disability research : JIDR 2019; (63(4)):346-356 doi:10.1111/jir.12580.

Down syndrome and infertility: what support should we provide?

Parizot E, Dard R, Janel N, Vialard F

Journal of assisted reproduction and genetics 2019; (36(6)):1063-1067 doi:10.1007/s10815-019-01457-2.

The Double Bubble Sign: Duodenal Atresia and Associated Genetic Etiologies.

Bishop JC, McCormick B, Johnson CT, et al.

Fetal diagnosis and therapy 2020; (47(2)):98-103 doi:10.1159/000500471.

Clinical Validation of Non-Invasive Prenatal Testing for Fetal Common Aneuploidies in 1,055 Korean Pregnant Women: a Single Center Experience.

Lee DE, Kim H, Park J, et al.

Journal of Korean medical science 2019; (34(24)):e172 doi:10.3346/jkms.2019.34.e172.

Transient Myeloproliferative Disorder: An Update for Neonatal Nurses.

Gallaway L, Jnah AJ

Neonatal network : NN 2019; (38(3)):144-150 doi:10.1891/0730-0832.38.3.144.

[The value of non-invasive prenatal testing for the identification of fetal chromosome aneuploidies].

Zhou Y, Wang Z, Mao Q, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019; (36(11)):1094-1096 doi:10.3760/cma.j.issn.1003-9406.2019.11.009.

How common is germinal mosaicism that leads to premeiotic aneuploidy in the female?

Delhanty JD, SenGupta SB, Ghevaria H

Journal of assisted reproduction and genetics 2019; (36(12)):2403-2418 doi:10.1007/s10815-019-01596-6.

Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer's disease-related dysregulation.

Haertle L, Müller T, Lardenoije R, et al.

Clinical epigenetics 2019; (11(1)):195 doi:10.1186/s13148-019-0787-x.

The Search for Biomarkers of Alzheimer's Disease in Down Syndrome.

Handen BL

American journal on intellectual and developmental disabilities 2020; (125(2)):97-99 doi:10.1352/1944-7558-125.2.97.

The impact of trisomy 21 on epidemiology, management, and outcomes of congenital duodenal obstruction: a population-based study.

Bethell GS, Long AM, Knight M, et al.

Pediatric surgery international 2020; (36(4)):477-483 doi:10.1007/s00383-020-04628-w.

Editorial: Do Different Neurogenetic Disorders Impart Different Profiles of Psychiatric Risk?

Raznahan A

Journal of the American Academy of Child and Adolescent Psychiatry 2020; (59(9)):1022-1024 doi:10.1016/j.jaac.2020.03.002.

Transient Abnormal Myelopoiesis: A Varied Spectrum of Clinical Presentation.

Singh A, Mandal A, Guru V, et al.

Journal of hematology 2017; (6(1)):25-28 doi:10.14740/jh306w.

Reproducibility of foot dimensions measured from 3-dimensional foot scans in children and adolescents with Down syndrome.

Hassan NM, Buldt AK, Shields N, et al.

Journal of foot and ankle research 2020; (13(1)):31 doi:10.1186/s13047-020-00403-1.

Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China.

Liu Y, Liu H, He Y, et al.

Human genomics 2020; (14(1)):21 doi:10.1186/s40246-020-00268-2.

Thriving with Down syndrome: A qualitative multiple case study.

Thompson T, Talapatra D, Hazel CE, et al.

Journal of applied research in intellectual disabilities : JARID 2020; (33(6)):1390-1404 doi:10.1111/jar.12767.

Down syndrome presenting with different hematological manifestations: A case series of four cases.

Shangpliang D, Dey B, Das J, et al.

Journal of family medicine and primary care 2020; (9(5)):2569-2572 doi:10.4103/jfmpc.jfmpc_326_20.

Evaluation of 2011 AAP cervical spine screening guidelines for children with Down Syndrome.

Hengartner AC, Whelan R, Maj R, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2020; (36(11)):2609-2614 doi:10.1007/s00381-020-04855-5.

Prevalence of Down's Syndrome in England, 1998-2013: Comparison of linked surveillance data and electronic health records.

Doidge JC, Morris JK, Harron KL, et al.

International journal of population data science 2020; (5(1)):1157 doi:10.23889/ijpds.v5i1.1157.

Retrospective details of false-positive and false-negative results in non-invasive prenatal testing for fetal trisomies 21, 18 and 13.

Suzumori N, Sekizawa A, Takeda E, et al.

European journal of obstetrics, gynecology, and reproductive biology 2021; (256()):75-81 doi:10.1016/j.ejogrb.2020.10.050.

Genetic dissection of down syndrome-associated alterations in APP/amyloid-β biology using mouse models.

Tosh JL, Rhymes ER, Mumford P, et al.

Scientific reports 2021; (11(1)):5736 doi:10.1038/s41598-021-85062-3.

The Association between Physical Activity and CAMDEX-DS Changes Prior to the Onset of Alzheimer's Disease in Down Syndrome.

Pape SE, Baksh RA, Startin C, et al.

Journal of clinical medicine 2021; (10(9)) doi:10.3390/jcm10091882.

Obstructing Sleep Apnea in Children with Genetic Disorders-A Special Need for Early Multidisciplinary Diagnosis and Treatment.

Oros M, Baranga L, Plaiasu V, et al.

Journal of clinical medicine 2021; (10(10)) doi:10.3390/jcm10102156.

Is the Age of Developmental Milestones a Predictor for Future Development in Down Syndrome?

Locatelli C, Onnivello S, Antonaros F, et al.

Brain sciences 2021; (11(5)) doi:10.3390/brainsci11050655.

Challenges in Patients with Trisomy 21: A Review of Current Knowledge and Recommendations.

Robinson J, Pompe MT, Gerth-Kahlert C

Journal of ophthalmology 2021; (2021()):8870680 doi:10.1155/2021/8870680.

Augmentative and Alternative Communication Supports for Language and Literacy in Preschool: Considerations for Down Syndrome and Autism Spectrum Disorder.

Barton-Hulsey A, Phinney S, Collins S

Seminars in speech and language 2021; (42(4)):345-362 doi:10.1055/s-0041-1730996.

Amniotic fluid stem cells and the cell source repertoire for non-invasive prenatal testing.

Rosner M, Kolbe T, Voronin V, Hengstschläger M

Stem cell reviews and reports 2022; (18(4)):1366-1371 doi:10.1007/s12015-021-10228-5.

A sensitive and inexpensive high-resolution melting-based testing algorithm for diagnosis of transient abnormal myelopoiesis and myeloid leukemia of Down syndrome.

Camargo R, de Castro Moreira Dos Santos A, Cândido Guido B, et al.

Pediatric blood & cancer 2022; (69(11)):e29866 doi:10.1002/pbc.29866.

Predictors of sleep disordered breathing in children with Down syndrome: a systematic review and meta-analysis.

Hanna N, Hanna Y, Blinder H, et al.

European respiratory review : an official journal of the European Respiratory Society 2022; (31(164)) doi:10.1183/16000617.0026-2022.

Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling.

Feresin A, Stampalija T, Cappellani S, et al.

Frontiers in genetics 2022; (13()):982508 doi:10.3389/fgene.2022.982508.

Caregiver knowledge of obstructive sleep apnoea in Down syndrome.

Giménez S, Tapia IE, Fortea J, et al.

Journal of intellectual disability research : JIDR 2023; (67(1)):77-88 doi:10.1111/jir.12990.

Whole-Chromosome Karyotyping of Fetal Nucleated Red Blood Cells Using the Ion Proton Sequencing Platform.

Barrett AN, Huang Z, Aung S, et al.

Genes 2022; (13(12)) doi:10.3390/genes13122257.

Mosaic trisomy 21 at amniocentesis in a twin pregnancy associated with a favorable fetal outcome, maternal uniparental disomy 21 and postnatal decrease of the trisomy 21 cell line.

Chen CP, Hsu TY, Chern SR, et al.

Taiwanese journal of obstetrics & gynecology 2023; (62(1)):137-141 doi:10.1016/j.tjog.2022.01.012.

Cytogenetic study of subtypes of Down syndrome and its relation with pattern of congenital cardiac defects.

Haider A, Khan S, Kuraishi RT, Akhtar MS

JPMA. The Journal of the Pakistan Medical Association 2023; (73(2)):270-274 doi:10.47391/JPMA.5422.

Prospective study of thyroid function in the first year of life in infants with Down syndrome.

Feldman PM, Rodriguez N, Morrison E, et al.

European journal of pediatrics 2023; (182(6)):2903-2911 doi:10.1007/s00431-023-04954-w.

Health Surveillance in a Down Syndrome Specialty Clinic: Implementation of Electronic Health Record Integrations During the Coronavirus Disease 2019 Pandemic.

Santoro SL, Howe YJ, Krell K, et al.

The Journal of pediatrics 2023; (255()):58-64.e6 doi:10.1016/j.jpeds.2022.10.021.

Parent-implemented augmented communication intervention and young children with Down syndrome: an exploratory report.

Romski M, Sevcik RA, Barton-Hulsey A, et al.

Frontiers in psychology 2023; (14()):1168599 doi:10.3389/fpsyg.2023.1168599.

Myeloid Leukemia of Down Syndrome.

Kosmidou A, Tragiannidis A, Gavriilaki E

Cancers 2023; (15(13)) doi:10.3390/cancers15133265.

DS-CNN: Deep Convolutional Neural Networks for Facial Emotion Detection in Children with Down Syndrome during Dolphin-Assisted Therapy.

Moreno Escobar JJ, Morales Matamoros O, Aguilar Del Villar EY, et al.

Healthcare (Basel, Switzerland) 2023; (11(16)) doi:10.3390/healthcare11162295.

Cell-free DNA Screening for Aneuploidy.

Norton ME

Clinical obstetrics and gynecology 2023; (66(3)):557-567 doi:10.1097/GRF.0000000000000796.

Invasive prenatal diagnosis in the era of cell-free fetal DNA: experience at a single center.

Ponziani I, Pallottini M, Masini G, et al.

Minerva obstetrics and gynecology 2023; (75(5)):393-398 doi:10.23736/S2724-606X.22.05042-4.

[Risk factors in the origin of Down syndrome].

Blanco-Montaño A, Ramos-Arenas M, Yerena-Echevarría BA, et al.

Revista medica del Instituto Mexicano del Seguro Social 2023; (61(5)):638-644 doi:10.5281/zenodo.8316459.

Down syndrome child with multiple heart diseases: A case report.

Kong MW, Li YJ, Li J, et al.

World journal of cardiology 2023; (15(11)):615-622 doi:10.4330/wjc.v15.i11.615.

Health-related quality of life and family functioning of primary caregivers of children with down syndrome.

Rozensztrauch A, Wieczorek K, Twardak I, Śmigiel R

Frontiers in psychiatry 2023; (14()):1267583 doi:10.3389/fpsyt.2023.1267583.

An integration-free iPSC line SDQLCHi065-A from a patient with down syndrome, possessing a 47, XY,+21, inv(9)(p12q21),16qh + karyotype.

Zhang X, Xin H, Liu Y, et al.

Stem cell research 2024; (76()):103351 doi:10.1016/j.scr.2024.103351.

Transient Abnormal Myelopoiesis: An Abnormal Course and the Efficacy of Delayed Treatment.

Mishra P, Fajrudheen M, Sahoo T, et al.

Cureus 2024; (16(2)):e54219 doi:10.7759/cureus.54219.

Comparison of the performance of NIPT and NIPT-plus for fetal chromosomal aneuploidy and high Z-score increases the positive predictive value.

Liu S, Xu Y, Chang Q, et al.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2024; (167(1)):273-280 doi:10.1002/ijgo.15535.

Low-level mosaic trisomy 21 at amniocentesis and cordocentesis in the second trimester in a pregnancy associated with positive non-invasive prenatal testing for trisomy 21, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome.

Chen CP, Wu FT, Pan YT, et al.

Taiwanese journal of obstetrics & gynecology 2024; (63(3)):391-393 doi:10.1016/j.tjog.2024.03.006.

Atlantoaxial dislocation due to Os odontoideum in down syndrome: Literature review and case reports.

Nguyen LH, Nguyen KM, Nguyen TLB, et al.

International journal of surgery case reports 2024; (120()):109888 doi:10.1016/j.ijscr.2024.109888.

Occurrence of mosaic Down syndrome and prevalence of co-occurring conditions in Medicaid enrolled adults, 2016-2019.

Rubenstein E, Tewolde S, Skotko BG, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2024; (196(4)):e32097 doi:10.1002/ajmg.c.32097.

Sleep-Disordered Breathing and Associated Comorbidities among Preschool-Aged Children with Down Syndrome.

Kolstad TK, DelRosso LM, Tablizo MA, et al.

Children (Basel, Switzerland) 2024; (11(6)) doi:10.3390/children11060651.

Internalizing Psychiatric Symptoms in People with Mosaicism for Trisomy 21.

Brown RC, D'Aguilar A, Hurshman Q, et al.

medRxiv : the preprint server for health sciences 2024; doi:10.1101/2024.06.19.24309168.

Impact of orthodontic treatment with aligners on the oral health-related quality of life of patients with trisomy 21.

Taniguchi A, Bittencourt JM, Paiva SM, et al.

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 2024; (44(6)):1781-1787 doi:10.1111/scd.13055.

Low-level mosaic trisomy 21 due to mosaic unbalanced Robertsonian translocation of 46,XX,+21,der(21;21) (q10;q10)/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, cytogenetic discrepancy among various tissues and perinatal progressive decrease of the trisomy 21 cell line.

Chen CP, Chen YY, Wu FT, et al.

Taiwanese journal of obstetrics & gynecology 2024; (63(6)):931-934 doi:10.1016/j.tjog.2024.09.014.

Employment of people with Down syndrome: A scoping review.

Ting CH, Rahman MM, Chen YY, et al.

Narra J 2024; (4(3)):e1431 doi:10.52225/narra.v4i3.1431.

An Evaluation of the Impact of Genetic Counseling on Adherence to the 2011 American Academy of Pediatrics Health Supervision Guidelines for Children With Down Syndrome.

Mainville B, Flore LA, Carmany EP

American journal of medical genetics. Part A 2025; (197(5)):e63999 doi:10.1002/ajmg.a.63999.

Internalizing Psychiatric Symptoms in People With Mosaicism for Trisomy 21.

Brown RC, D'Aguilar A, Hurshman Q, et al.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2025; (198(5)):e33022 doi:10.1002/ajmg.b.33022.

The prevalence of hearing impairment in infants and children with down syndrome a cross sectional study in a Tertiary Care Center.

Yahia S, Metawea M, Megahed A, et al.

Scientific reports 2025; (15(1)):7570 doi:10.1038/s41598-025-90500-7.

Atypical Presentation of Duodenal Atresia in a Newborn With Trisomy 21: A Simulated Case Report and Narrative Review.

Tam CW, Patel S, Massoumi J, et al.

Pediatric annals 2025; (54(4)):e139-e143 doi:10.3928/19382359-20250206-04.

Prevalence of ophthalmic abnormalities and refractive changes in Taiwanese children with Down syndrome.

Chen CP, Tsai TH, Liu YL, et al.

PloS one 2025; (20(5)):e0324366 doi:10.1371/journal.pone.0324366.

Middle Ear Disorders in Children with Down Syndrome: The Detrimental Effect on Speech and Language Development.

Tenenbaum A, Yaakov AB, Peled Y, et al.

Children (Basel, Switzerland) 2025; (12(5)) doi:10.3390/children12050558.

Physical activity as a resistance or resilience mechanism in Down syndrome Alzheimer's disease.

Fleming VL, Peven J, Helsel BC, et al.

Alzheimer's & dementia (New York, N. Y.) 2025; (11(3)):e70127 doi:10.1002/trc2.70127.

Transient abnormal myelopoiesis in a premature infant with Down syndrome: A case report.

Wang J, Wang D, Tao X, et al.

Medicine 2025; (104(29)):e43178 doi:10.1097/MD.0000000000043178.

Experience of the Pediatric Department at the Mohammed VI University Hospital Center in Oujda on Trisomy 21 and Congenital Heart Defects: What Is the Reality in the Oriental Region of Morocco?

Babakhouya A, Yechouti C, Salhi C, et al.

Cureus 2025; (17(6)):e86689 doi:10.7759/cureus.86689.

A case of transient abnormal myelopoiesis with trisomy 21, tetrasomy 21, and trisomy 19.

Munakata M, Go H, Hiruta S, et al.

Fukushima journal of medical science 2026; (72(1)):69-72 doi:10.5387/fms.24-00045.

Lifestyle Composite and Resilience to Alzheimer's Disease Pathology in Down Syndrome.

Schworer EK, Zammit MD, Handen BL, et al.

Journal of applied research in intellectual disabilities : JARID 2025; (38(4)):e70109 doi:10.1111/jar.70109.

Comprehensive Cytogenetic Analysis Reveals Mosaicism in Newborn with Negative Prenatal Down Syndrome Screening: A Case Report.

Puppo I, Vardanyan A, Shahsuvaryan G, et al.

The American journal of case reports 2025; (26()):e948522 doi:10.12659/AJCR.948522.

[A case of mosaicism involving trisomy 21, maternal uniparental isodisomy, and normal diploid cells: Challenges and reflections in prenatal diagnosis].

Xu C, Dong X, Xiong Y, Wang D

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2025; (42(8)):1006-1010 doi:10.3760/cma.j.cn511374-20250225-00108.

The joint association of obesity and physical activity on cognitive function in Down syndrome.

Clina JG, Helsel BC, Hartley SL, et al.

Journal of Alzheimer's disease : JAD 2025; (108(3)):1328-1338 doi:10.1177/13872877251386474.

Adherence to the American Academy of Pediatrics Health Supervision Guidelines for Children With Down Syndrome in a Tertiary Care Institution in Northeastern Colombia.

Suárez-Mantilla SN, Africano-Leon ML, Mora-Bautista VM, et al.

Cureus 2025; (17(9)):e93426 doi:10.7759/cureus.93426.

Occiput-to-C4 fixation skipping C3 in a pediatric Down syndrome patient with atlantoaxial subluxation and basilar invagination: A case report.

Mousa AH, Hafiz BE, Aref M

Surgical neurology international 2025; (16()):453 doi:10.25259/SNI_1001_2025.

Obstructive Sleep Apnea-Hypopnea Syndrome in Children With Down Syndrome Treated at a Tertiary Care Hospital in Northeastern Colombia.

Suarez Mantilla SN, Mora Bautista VM, Africano Leon ML, et al.

Cureus 2026; (18(1)):e102624 doi:10.7759/cureus.102624.