Navigating Inclusive Research in PhD Studies: A Model for Limited Resource Environments by Laura Ryan, Kathy Ellem, Robyne Le Brocque, Claire Mitchell, Luka Langdon

“…This paper has addressed this gap by providing a practical model of how the first author conducted PhD research with two health service consumer advisors with Down syndrome. The consumer advisors participated in eleven meetings lasting up to 2 hours, with a tailored involvement plan that considered their specific needs. …”
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Understanding Fetal Alcohol Spectrum Disorders (FASDs): Toward Identification of a Behavioral Phenotype by Kelly Nash, Erin Sheard, Joanne Rovet, Gideon Koren

“…Fetal alcohol spectrum disorders (FASDs) currently represent the leading cause of mental retardation in North America, ahead of Down syndrome and cerebral palsy. The damaging effects of alcohol on the developing brain have a cascading impact on the social and neurocognitive profiles of affected individuals. …”
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DYRK1A (Dual-Specificity Tyrosine-Phosphorylated and -Regulated Kinase 1A): A Gene with Dosage Effect During Development and Neurogenesis by M. Dierssen, M. Martínez de Lagrán

“…In humans, DYRK1A has been proposed to be involved in the neurodevelopmental alterations associated with Down syndrome. The large number of protein interaction and putative substrates described for DYRK1A suggest multiple pathways and functions to be involved in its developmental function. …”
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Socialization of Disabled People with Sports Activities and Their Problem Encountered in Participating in Sports Activities by Betül Akyol, Mehmet İlkim

“…Parents of people with Down's syndrome and mild mental disability have expressed a positive view of the fitness of sports facilities, while the parents of autistic and physically handicapped individuals indicate that their facilities and equipment are insufficient. …”
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Exploring Women’s Experiences of Amniocentesis: A Qualitative Content Analysis by Jaruwan Kownaklai, Umaporn Kuasit, Nanthiya Thaicharoen

“…Results: Four themes of decision-making experiences were identified: (1) “Shocked, worried, and questioned why the risk was high”; (2) “Does my baby have Down syndrome? I want to know”; (3) “Worried”; and (4) “Relief from anxiety.” …”
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Cytokine Storm Syndrome Responsive to IL-1 Inhibition in Trisomy 21 by Aimee Magnarelli, Julia Shalen, Maria J. Gutierrez

“…Trisomy 21 (TS21), also known as Down syndrome, is a genetic disorder associated with immune dysfunction, increased infection susceptibility, and inflammation. …”
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Where Environment Meets Cognition: A Focus on Two Developmental Intellectual Disability Disorders by I. De Toma, L. Manubens Gil, S. Ossowski, M. Dierssen

“…On the other hand, alterations in the various components of the epigenetic machinery have been linked to well-known causes of intellectual disability disorders (IDDs). Two examples are Down Syndrome (DS) and Fragile X Syndrome (FXS), where global and local epigenetic alterations lead to impairments in synaptic plasticity, memory, and learning. …”
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Aging and Bone Health in Individuals with Developmental Disabilities by Joan Jasien, Caitlin M. Daimon, Stuart Maudsley, Bruce K. Shapiro, Bronwen Martin

“…We will specifically focus on the bone health of two common developmental disabilities, Down syndrome (DS) and cerebral palsy (CP), and will discuss BMD and fracture rates in these complex populations. …”
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Atypical Celiac Disease: From Recognizing to Managing by B. Admou, L. Essaadouni, K. Krati, K. Zaher, M. Sbihi, L. Chabaa, B. Belaabidia, A. Alaoui-Yazidi

“…The availability of high-sensitive and specific serologic tests such as antitissue transglutuminase, antiendomysium, and more recent antideamidated, gliadin peptide antibodies permits to efficiently uncover a large portion of the submerged CD iceberg, including individuals having conditions associated with a high risk of developing CD (type 1 diabetes, autoimmune diseases, Down syndrome, family history of CD, etc.), biologic abnormalities (iron deficiency anemia, abnormal transaminase levels, etc.), and extraintestinal symptoms (short stature, neuropsychiatric disorders, alopecia, dental enamel hypoplasia, recurrent aphtous stomatitis, etc.). …”
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Effectiveness of Palivizumab in Preventing RSV Hospitalization in High Risk Children: A Real-World Perspective by Nusrat Homaira, William Rawlinson, Thomas L. Snelling, Adam Jaffe

“…Data are limited to allow commenting on the protective effect of palivizumab among other high risk children, including those with Down syndrome, cystic fibrosis, and haematological malignancy, indicating further research is warranted in these groups.…”
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Amniotic Fluid β2- Microglobulin Measurements by Emine Aydın, Alp Tuna Beksaç, Ergün Karaağaoğlu, M. Sinan Beksaç

“…Others were; high risk result for triple test (18.5%), high risk result for double test (6.48%), ventriculomegaly (5.55%), obstetric history for fetus with down syndrome (4.62%), the presence of soft markers on ultrasound (13.8%), others (17.8%). …”
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Folic Acid and Birth Defects: A Case Study (Iran) by Mohammad Bager Hosseini, Zhila Khamnian, Saeed Dastgiri, Bahram Samadi Raad, Yalda Ravanshad

“…Hydrops fetalis, hydrocephaly, Down syndrome, and limb anomalies did not have any significant association with the folic acid use. …”
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Challenges in Patients with Trisomy 21: A Review of Current Knowledge and Recommendations by Jennifer Robinson, Manca Tekavčič Pompe, Christina Gerth-Kahlert

“…To summarize and review the common ophthalmic anomalies in children with trisomy 21 (Down syndrome) in order to propose an update to current clinical recommendations. …”
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Congenital Anomalies and Termination of Pregnancy in Iran by Bahram Samadirad, Zhila Khamnian, Mohammad Bager Hosseini, Saeed Dastgiri

“…Neural tube defects, limb deformation, hydrops fetalis, hydrocephaly, and chromosomal anomalies including Down syndrome accounted proportionally for about 65 percent of defects eligible for abortion in the region. …”
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A New Model for Providing Cell-Free DNA and Risk Assessment for Chromosome Abnormalities in a Public Hospital Setting by Robert Wallerstein, Andrea Jelks, Matthew J. Garabedian

“…Cell-free DNA (cfDNA) offers highly accurate noninvasive screening for Down syndrome. Incorporating it into routine care is complicated. …”
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Characteristics and Indications of Legal Abortion among the Pregnant Women in Lorestan Province of Iran during 2017–2019 by Zahra Fatemi, Soheila Akbari

“…Fetal disturbance of the brain and spine was the most prevalent reason of abortion (24.92%, 95% CI: 19.63%–31.19%) followed by Down syndrome (19.34%, 95% CI: 14.73%–24.95), hydrops fetalis (12.79%, 95% CI: 9.09%–17.48%), and anencephaly (12.79%, 95% CI: 9.09%–17.48%). …”
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Misdiagnosed Tooth Aspiration in a Young Handicapped Boy: Case Report and Recommendations by Thibault Canceill, Rémi Esclassan, Mathieu Marty, Marie-Cécile Valera, Estelle Trzaskawka-Moulis, Emmanuelle Noirrit-Esclassan

“…We report here the case of a four-year-old boy with Down syndrome who came to the hospital after a dental trauma. …”
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Proportion of Chromosomal Disorders and Their Patterns among Births with Congenital Anomalies in Africa: A Systematic Review and Meta-Analyses by Teshome Gebremeskel Aragie, Girma Seyoum Gedion

“…In the current systematic review and meta-analysis, the pooled proportion of chromosomal disorders among births with congenital anomalies in Africa was small. Down syndrome (trisomy 21) accounted for more than 80% of chromosomal disorders. …”
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Automated craniofacial biometry with 3D T2w fetal MRI. by Jacqueline Matthew, Alena Uus, Alexia Egloff Collado, Aysha Luis, Sophie Arulkumaran, Abi Fukami-Gartner, Vanessa Kyriakopoulou, Daniel Cromb, Robert Wright, Kathleen Colford, Maria Deprez, Jana Hutter, Jonathan O'Muircheartaigh, Christina Malamateniou, Reza Razavi, Lisa Story, Joseph V Hajnal, Mary A Rutherford

“…We assessed 108 healthy controls and 24 fetuses with Down syndrome (T21) in the third trimester (29-36 weeks gestational age, GA) to identify meaningful biometrics in T21. …”
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Monosomy 21 Seen in Live Born Is Unlikely to Represent True Monosomy 21: A Case Report and Review of the Literature by Trent Burgess, Lilian Downie, Mark D. Pertile, David Francis, Melissa Glass, Sara Nouri, Rosalynn Pszczola

“…Whilst this patient had a provisional clinical diagnosis of trisomy 21, the patient also had phenotypic features consistent with monosomy 21, such as prominent epicanthic folds, broad nasal bridge, anteverted nares, simple ears, and bilateral overlapping fifth fingers, features which can also be present in individuals with Down syndrome. The patient died at 4.5 months of age. …”
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