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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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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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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Clinical Characteristics and Outcomes of COVID-19 in Children in Northern Iran by Leila Shahbaznejad, Hamed Rouhanizadeh, Mohammad Reza Navaeifar, Fatemeh Hosseinzadeh, Faeze Sadat Movahedi, Mohammad Sadegh Rezai

“…Leukopenia was reported in 7, anemia in 24, and thrombocytopenia in 12 patients. 4 patients with underlying diseases including chronic renal failure, Down syndrome with cerebral palsy, and morbid obesity died. …”
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A novel perspective on survival prediction for AML patients: Integration of machine learning in SEER database applications by Zheng-yi Jia, Maierbiya Abulimiti, Yun Wu, Li-na Ma, Xiao-yu Li, Jie Wang

“…Among the FAB subtypes, M3 AML had a better prognosis than other subtypes, and among the WHO subtypes, AML associated with Down syndrome had the best prognosis, followed by AML with eosinophilic abnormalities. …”
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Karakteristik Penderita Penyakit Jantung Bawaan pada Anak di RSUP Dr. M. Djamil Padang Periode Januari 2010 – Mei 2012 by Nur Ain, Didik Hariyanto, Sovina Rusdan

“…A total of (34.5%)<br />patients had another congenital diseases, the most common nonsyndromic disease are anus atresia and omfalocele (22.2%) respectively, and the most common syndromic disease is Down Syndrome (40%). Failure to thrive presents in 49.1% patients. …”
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COVID-19 and children with congenital anomalies: a European survey of parents’ experiences of healthcare services by Ingeborg Barisic, Carlos Matias Dias, Amanda Neville, Anna Pierini, Anke Rissmann, Joan K Morris, Judith Rankin, Ester Garne, Anna Latos-Bielenska, Elena Marcus, Anna Jamry-Dziurla, Ljubica Odak, Clara Cavero- Carbonell, Elly Den Hond, Lucas Genard, Ana João Santos, L Renée Lutke, Christina Neergaard Pedersen, Annika Niemann, Lucía Páramo-Rodríguez

“…Objective To survey parents and carers of children with a congenital anomaly across Europe about their experiences of healthcare services and support during the COVID-19 pandemic.Design Cross-sectional study.Setting Online survey in 10 European countries, open from 8 March 2021 to 14 July 2021.Population 1070 parents and carers of children aged 0–10 years with a cleft lip, spina bifida, congenital heart defect (CHD) requiring surgery and/or Down syndrome.Main outcome measures Parental views about: the provision of care for their child (cancellation/postponement of appointments, virtual appointments, access to medication), the impact of disruptions to healthcare on their child’s health and well-being, and satisfaction with support from medical sources, organisations and close relationships.Results Disruptions to healthcare appointments were significantly higher (p&lt;0.001) in the UK and Poland, with approximately two-thirds of participants reporting ‘cancelled or postponed’ tests (67/101; 256/389) and procedures compared with approximately 20% in Germany (13/74) and Belgium/Netherlands (11/55). …”
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