scholarly journals Budowanie planu ruchu artykulacyjnego u dzieci z zespołem Downanu ruchu artykulacyjnego u dzieci z zespołem Downa

2019 ◽  
Vol 26 (2) ◽  
pp. 115-125
Author(s):  
Małgorzata Kuśnierz ◽  
Katarzyna Sedivy-Mączka
Keyword(s):  
Down Syndrome ◽  
Clinical Experience ◽  
Trisomy 21 ◽  
Speech Therapy ◽  
Speech Delay ◽  
Children With Down Syndrome ◽  
Different Ages

The authors of the article present two techniques supporting the development of articulation in children with Down syndrome: Articulation Gestures and Phoneme Manual Facilitation. Using their own clinical experience and referring to the latest neurobiological knowledge and subject literature, they justify the importance and, in some cases, the need to apply these techniques in speech therapy of children with trisomy 21. The text also presents three individual cases of children with Down syndrome of different ages who have been diagnosed with profound speech delay.

scholarly journals Investigating the Link Between Trisomy 21 and Acquired Mutations in the GATA1 Gene

The Physician ◽  
2019 ◽  
Vol 6 (1) ◽  
pp. c9
Author(s):  
Triya Chakravorty ◽  
Irene Roberts
Keyword(s):  
Down Syndrome ◽  
Acute Myeloid Leukaemia ◽  
Myeloid Leukaemia ◽  
Trisomy 21 ◽  
Children With Down Syndrome ◽  
Transient Abnormal Myelopoiesis ◽  
Increased Risk ◽  
Leukaemic Cells ◽  
Acute Myeloid

Children with Down syndrome (DS) due to trisomy 21 (T21) are at an increased risk of developing the neonatal preleukaemic disorder transient abnormal myelopoiesis (TAM), which may transform into childhood acute myeloid leukaemia (ML-DS). Leukaemic cells in TAM and ML-DS have acquired mutations in the GATA1 gene. Although it is clear that acquired mutations in GATA1 are necessary for the development of TAM and ML-DS, questions remain concerning the mechanisms of disease.

scholarly journals Zabawa we wczesnej terapii logopedycznej u dzieci z zespołem Downa

2019 ◽  
Vol 26 (2) ◽  
pp. 87-101
Author(s):  
Ewa Kaptur
Keyword(s):  
Down Syndrome ◽  
Speech Therapy ◽  
Holistic Approach ◽  
Speech And Language ◽  
Children With Down Syndrome ◽  
Early Speech

The concept of early speech therapy by a team of therapists of different specializations, including a speech and language pathologist, assumes a holistic approach to an infant’s development. Children with Down syndrome require the help of a speech and language pathologist since the first day of their lives. The article describes activating the child’s speech by incorporating games into the therapy.

Acute Lymphoblastic Leukemia (ALL) with t(8;14)(q11.2;q32): B-Lineage Disease with High Proportion of Down Syndrome. A Children’s Oncology Group (COG) Study.

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 1477-1477
Author(s):  
Yoav H. Messinger ◽  
Rodney Higgins ◽  
Meenakshi Devidas ◽  
Stephen P. Hunger ◽  
Andrew J. Carroll ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Lymphoblastic Leukemia ◽  
Critical Role ◽  
Prognostic Significance ◽  
Philadelphia Chromosome ◽  
Chromosome 8 ◽  
Excellent Outcome ◽  
Children With Down Syndrome ◽  
B Lineage

Abstract Recurrent chromosome translocations play a critical role in the pathogenesis of ALL and many translocations have important prognostic significance. The t(8;14)(q11.2;q32) is a recurrent translocation that fuses the chromosome 8 CEBPD (CCAAT enhancer binding protein delta) gene to the IgH (immunoglobulin heavy chain) gene, leading most likely to deregulated CEPD expression. We previously reported the clinical data of 10 such patients (Leukemia, 2000;14:238–240). Using the COG ALL cytogenetics database we expand the report to include 22 patients (13 females and 9 males) with the t(8;14)(q11.2;q32). All patients with available immunophenotyping data (n=20) had B-lineage ALL. The median age at diagnosis was 9.2 years (range: 1.6 months – 17.1 years). Median diagnostic white blood cell count (WBC) was 9,950 (range: 700–172,000). Of the 22 patients, 7 were NCI standard risk and 15 were high risk. The most common additional cytogenetic abnormality was trisomy 21. Of the ten cases with trisomy 21, seven were constitutional (Down Syndrome), thus confirming previous reports that a significant fraction of t(8;14) patients (7/22; 31.8%) have Down Syndrome, which is much higher than the 3% (80/2811) overall rate of children with Down Syndrome in a recent COG ALL trial (p<0.0001). In addition to the Down Syndrome cases, one case with phenotypic Turner syndrome had a mosaic constitutional r(Y)(p11q11.2); thus, eight cases (36%) had constitutional abnormalities. Secondary abnormalities included additional X (n=5); additional 5 (n=3); Philadelphia chromosome (n=1). Two cases had a second der(14)t(8;14) and two had loss of the der(8) t(8;14), consistent with the der(14)t(8;14) as the significant abnormality. Four cases (18%) had 9p deletions compared with 11% in the overall ALL population, and two cases (9%) had abnormalities of 13q compared with 2% in the overall population. Numerically, the cases were pseudodiploid (n=12) and hyperdiploid (n=10). Children with Down Syndrome had superior estimated 5-year event-free survival of 100%, compared to non-Down patients with 50.1±17.7% (p=0.04). Overall survival was also different but did not reach statistical significance: 100% vs. 60.9±17.0% (p=0.088). In summary, the rare t(8;14)(q11.2;q32) is associated with B-lineage phenotype and occurs with greatly increased frequency in children with Down Syndrome, who have an excellent outcome with standard COG therapy as compared to non-Down Syndrome patients with this translocation.

scholarly journals Physiotherapy in Down Syndrome: A Literature Review

2021 ◽  
pp. 20-27
Author(s):  
Yasmin Souza Silva ◽  
Luciana Lane Gomes Da Silva ◽  
Wellington Carlos Da Silva ◽  
Agrinazio Geraldo Nascimento Neto ◽  
Thalita De Sousa Pereira ◽  
...  
Keyword(s):  
Systematic Review ◽  
Down Syndrome ◽  
Trisomy 21 ◽  
Chromosomal Abnormalities ◽  
Signs And Symptoms ◽  
Scientific Basis ◽  
Genetic Condition ◽  
Main Research ◽  
Children With Down Syndrome

Introduction: Down syndrome is a genetic condition arising from three chromosomal abnormalities, namely trisomy 21 (the most well-known); translocation, and/or mosaicism. This chromosome change occurs in the formation of the fetus, in more detail at the time of cell division, which will characterize the signs and symptoms of the syndrome. Objective: The purpose of this article is to research the main scientific findings in the last 10                years regarding physical therapy treatments, to verify the best techniques and their respective results, and to address the role of physiotherapy in the development of children with Down syndrome. Methods: The research only included studies published in the period from 2009 to 2019, systematic review articles and limited the Portuguese and English languages ​​were excluded, excluding all incomplete articles, duplications, abstracts that did not address, and those works that do not have a scientific basis. Results: In this systematic review, it can be seen that the main research results were disseminated and stored in databases (SciELO, Medline, and LILACS), focusing on the study of and DS patients, specifical children in early childhood. There are few studies on down syndrome in adults. Another important aspect is the concentration of research in the field of sports physiotherapy, few studies have focused on other areas of physiotherapy, such as respiratory, cardiovascular, and cognitive physiotherapy, which go in the opposite direction. Conclusion: Physiotherapy for patients with DS can improve the quality and life expectancy of these individuals, but the needs of patients with this syndrome involve some physical, physiological and psychological aspects and require the attention of a multidisciplinary team.

scholarly journals Precocious clonal hematopoiesis in Down syndrome is accompanied by immune dysregulation

2021 ◽  
Vol 5 (7) ◽  
pp. 1791-1796
Author(s):  
L. Alexander Liggett ◽  
Matthew D. Galbraith ◽  
Keith P. Smith ◽  
Kelly D. Sullivan ◽  
Ross E. Granrath ◽  
...  
Keyword(s):  
Gene Expression ◽  
Down Syndrome ◽  
Trisomy 21 ◽  
Expression Profiles ◽  
Clonal Evolution ◽  
Gene Expression Profiles ◽  
Immune Dysregulation ◽  
Children With Down Syndrome ◽  
Clonal Hematopoiesis ◽  
Key Points

Key Points Children with Down syndrome develop early signs of clonal evolution that resemble traditional clonal hematopoiesis. Children with trisomy 21 who exhibit clonal hematopoiesis display cytokine and gene expression profiles indicative of disrupted immunity.

Administration: Opportunities for Enhanced Clinical Experience Through Regional Stewardship

2012 ◽  
Vol 22 (2) ◽  
pp. 64-70
Author(s):  
Kelly A. Kleinhans ◽  
Sharon B. Hart
Keyword(s):  
Down Syndrome ◽  
Service Learning ◽  
Clinical Experience ◽  
Clinical Skills ◽  
Clinical Settings ◽  
Speech Language Pathology ◽  
University Supervisors ◽  
Children With Down Syndrome ◽  
Language Pathology ◽  
Community Issues

Understanding the community in which one practices is equally important to the clinical skills and applications of knowledge acquired by a graduate student in speech-language pathology in clinical settings. Shifting political and economic landscapes that are the backdrop for service delivery necessitate that university supervisors help students recognize the influence of local and state community issues. In this article, the authors explain how a service-learning model was used to create a regional outreach activity to benefit stakeholders of a university speech and hearing clinic and members of the regional communities. Specifically, the clinical experience was designed to prepare Kentucky citizens to meet the unique needs of children with Down syndrome and their families.

Prenatal diagnosis of lung malformations and upper respiratory tract in fetuses with trisomy 21

2019 ◽  
Author(s):  
U.A. Strupeneva, E.S. Nekrasova, E.V. Lisina
Keyword(s):  
Early Childhood ◽  
Down Syndrome ◽  
Prenatal Diagnosis ◽  
Respiratory Tract ◽  
Respiratory System ◽  
Trisomy 21 ◽  
Upper Respiratory Tract ◽  
Children With Down Syndrome ◽  
Laryngeal Atresia ◽  
Upper Respiratory

The features of the development of the respiratory system in children with Down syndrome and related with that diseases of lungs and upper respiratory tract in children in early childhood are presented. Two cases of prenatal diagnosis of cystic adenomatous malformation type Ш and laryngeal atresia in fetuses with trisomy 21 are described.

The Down Syndrome Advantage: It Depends on What and When You Measure

2014 ◽  
Vol 119 (5) ◽  
pp. 389-404 ◽  
Author(s):  
Laraine Masters Glidden ◽  
Katherine Anne Grein ◽  
Jesse Andrew Ludwig
Keyword(s):  
Down Syndrome ◽  
Developmental Disabilities ◽  
Adaptive Behavior ◽  
Diagnostic Category ◽  
Maternal Outcomes ◽  
Life Stages ◽  
Children With Down Syndrome ◽  
Longitudinal Sample ◽  
Family Expectations ◽  
Different Ages

Abstract A “Down syndrome advantage”–better outcomes for individuals with Down syndrome and their families than for those with other intellectual/developmental disabilities (IDD)–is reduced when variables confounded with diagnostic category are controlled. We compared maternal outcomes in a longitudinal sample of families rearing children with Down syndrome or other IDD, and found that a Down syndrome advantage is (a) most likely when the metric is about the son/daughter rather than the parent or family more globally, (b) may be present or absent at different ages, and (c) is partially explained by higher levels of adaptive behavior for individuals with Down syndrome. We discuss the importance of multiple measures at multiple times, and implications for family expectations and adjustment at various life stages.

scholarly journals Comorbidities in children with Down syndrome: experience in a tertiary care hospital of Bangladesh

2021 ◽  
Vol 11 (3) ◽  
pp. 191-196
Author(s):  
Fahmida Zabeen ◽  
Fauzia Mohsin ◽  
Eva Jesmin ◽  
Sharmin Mahbuba ◽  
M Quamrul Hassan
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Thyroid Dysfunction ◽  
Septal Defect ◽  
Tertiary Care ◽  
Care Hospital ◽  
Children With Down Syndrome

Background: Down syndrome or trisomy 21 is one of the most common chromosomal disorders with moderate intellectual disability. In addition to mental retardation, this syndrome is associated with different congenital anomalies and characteristic dysmorphic features. Affected individuals are more susceptible to congenital heart disease and digestive anomalies, pulmonary complications, immune and endocrine system disorders. While several international studies have shown association of co-morbidities with trisomy 21, there is insufficient data available in Bangladesh.The present study aimed to evaluate the associated co-morbidities in children with Down syndrome. Methods: A cross-sectional study was conducted among pediatric cases with Down syndrome who attended the endocrine outpatient department (OPD) of BIRDEM General Hospital from June 2006 to December 2016. The cases were diagnosed either by Karyotyping or by characteristic phenotypes.The clinical and laboratory data of the patients were collected from outpatient history records for analysis. Results: There were total 42 children with Down syndrome, with mean age 4.2 years at assessment and female predominance (1.47:1). Thyroid dysfunction was the most common (69%) followed by congenital heart disease (57%). Among the thyroid disorders, acquired hypothyroidism was found in 55% cases, congenital hypothyroidism in 41% cases and only one had hyperthyroidism. Isolated patent ductus arteriosus (PDA) and atrial septal defect (ASD) comprised the commonest single congenital heart disease found in 53% and combined atrioventricular septal defect was the commonest among complex congenital cardiac defect observed in our study. Both thyroid dysfunction and congenital heart disease were found more in female children with Down syndrome than their male counterpart and it was found statistically significant. Fifty percent of our Down syndrome cases were referred from other healthcare centers to address developmental delay. Conclusion: Hypothyroidism and congenital heart disease are frequently associated in Down syndrome children in Bangladesh. This calls for developing awareness among health professionals to diagnose comorbidities at an early stage and to form recommendations for long term follow up. BIRDEM Med J 2021; 11(3): 191-196

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