scholarly journals PERMAINAN LEMPAR DADU SEBAGAI MEDIA PEMBELAJARAN BINA DIRI KESEHATAN ANAK DOWN SYNDROMEE

1930 ◽  
Vol 7 (02) ◽  
pp. 77-83
Author(s):  
Yovita Eka Ratna Kumala ◽  
Wafi Nur Muslihatun
Keyword(s):  
Down Syndrome ◽  
Success Rate ◽  
Visual Processing ◽  
Trisomy 21 ◽  
Genetic Disorder ◽  
Original Image ◽  
Children With Down Syndrome ◽  
Almost All

Down syndrome is a genetic disorder known as trisomy 21 and is most common. Down syndrome children have visual processing skills are better, but almost all children who suffer from this disorder can not read, write and take care of herself. This study aims to prove whether Roll dice game method can improve the ability of children with Down syndrome do Bina Yourself Healthy at SLB Mardi Mulya Kretek, Bantul, Yogyakarta. This study is a game of throwing dice experiment with the design of one group pretest-posttest. The instruments used were throwing dice game instruction with the words, cartoons and images and test viewing capabilities and perform the instructions mentioned on the dice. Data were analyzed descriptively calculate the percentage of children's success. The results showed toss the dice with the instructions of the original image (photo) provides the capability to mention children and do the instruction with the highest success rate (95.23%) compared to the instruction by writing (14.28%) and cartoons (66.67%).

Orthodontic Aspects on the Chronological and Dental Age in Children with Down Syndrome

2018 ◽  
Vol 69 (1) ◽  
pp. 208-213
Author(s):  
Mariana Pacurar ◽  
Bogdan Dragomir ◽  
Alina Silvana Szalontay ◽  
Cristian Romanec
Keyword(s):  
Down Syndrome ◽  
Emotional Disorders ◽  
Metabolic Diseases ◽  
Genetic Disorder ◽  
Signs And Symptoms ◽  
Deciduous Teeth ◽  
Healthy Children ◽  
Dental Maturation ◽  
Children With Down Syndrome ◽  
The Family

Genetics is a key discipline in medicine, but also a clinical discipline with medical and social implications. The interest in reducing the number of genetic disorders and recognizing the risk of them repeating when a family confronts itself with a genetic anomaly becomes more and more important in the hierarchy of prophylactic emergencies. Presenting themselves as metabolic diseases (monogenic mutations) or malformations (polygenic and multifactorial heredity) because of their frequency, these disorders position themselves on an ascendant curve. They become difficult to deal with for the society, for the family and for the interested individual and cause emotional disorders. The Down syndrome is the most frequent type of genetic disorder. It is characterized by a specific set of signs and symptoms. People with Down syndrome require special medical care that, apart from the family, must include a team of doctors of various specializations and also a dentist. They are predisposed to hearing and sight disorders and thyroid problems as well. In 50% of the cases there are also anomalies of the heart, and the risk of leukaemia is 20 times higher. Some of them even develop an Alzheimer type dementia during their life. The people with Down syndrome can have an average IQ up to a moderate form of handicap. In particular, the studies on Down syndrome in dentistry are quite frequent, but they focus more on cavities, periodontal disease and hypodontia. In spite of this, the connection of Down syndrome and dental eruption is less studied. Consequently, the present study is intended to fill this missing part from the specialized literature, focusing on the relation between the Down syndrome and the chronological and dental ages in children. The health of the oral cavity is neglected in these patients, their parents focusing more on the treatment of the other systemic disorders of their children; the lack of interest is reflected in their poor oral hygiene.The trial group included 94 children with mixt dentition, aged between 6 and 12, divided as follows: 36 children with Down syndrome enrolled at the Educational Centre for Inclusive Education no. 1 of Tg. Mures and Alpha Transilvana Foundation. The chronology and the eruption sequences are subjected to certain variations and they are influenced by the presence of cavities, the premature loss or, on the contrary, the prolonged retention of deciduous teeth as well as dental anchylosis. Dental maturation is less subjected to variations, as it is a progressive, continuous and cumulative process. The presence of Down syndrome in children generates a delay in teeth eruption by 1.27 years compared to the data identified in the specialized literature and to the information obtained on the healthy children included in the study.

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 Gambaran Erupsi Gigi Permanen pada Anak Sindrom Down Usia 10-16 Tahun di Sekolah Luar Biasa Kabupaten Jember

2018 ◽  
Vol 8 (1) ◽  
pp. 8
Author(s):  
Loly Anastasya Sinaga ◽  
Dwi Kartika Apriyono ◽  
Masniari Novita
Keyword(s):  
Down Syndrome ◽  
Special Needs ◽  
Physical Characteristic ◽  
Trisomy 21 ◽  
Genetic Disorder ◽  
Extra Chromosome ◽  
Descriptive Study ◽  
Chromosome 21 ◽  
Permanent Teeth ◽  
Intellectual Abilities

Background: Down Syndrome is a genetic disorder that occurs because of chromosome 21 has three chromosome (trisomy 21). The extra chromosome changes the genetic balance, physical characteristic, intellectual abilities, and physiological body function. Tooth eruption in Down Syndrome children typically delayed in both the timing and sequence of eruption up to two or three years. Objective: To observe the permanent teeth eruption in Down syndrome children at age 10-16 years old, boys and girls in Special Needs School in Jember. Materials and Methods: This research was a descriptive study with 7 subjects. Each subject was examined then calculated teeth that had emerged or functionally eruption with articualting paper. Result and Conclusion:  Both permanent teeth that is still partially erupted tooth (emerged/ EM) and had erupted perfectly (functionally eruption/ FE) delayed in eruption in Down Syndrome boys and girls at age 10-16 years old.

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.

Down Syndrome from a Neurodevelopmental Perspective

2016 ◽  
Author(s):  
Hana D’Souza ◽  
Jamie Edgin ◽  
Annette Karmiloff-Smith
Keyword(s):  
Down Syndrome ◽  
Individual Differences ◽  
Trisomy 21 ◽  
Genetic Disorder ◽  
Developmental Time ◽  
Receptive Vocabulary ◽  
Chromosome 21 ◽  
Typically Developing ◽  
Altered Expression ◽  
Wide Range

This is an advance summary of a forthcoming article in the Oxford Research Encyclopedia of Psychology. Please check back later for the full article. Down syndrome (DS; trisomy 21) is the most common genetic disorder associated with intellectual disability. It occurs in one out of every 700 to 1,000 live births. DS is caused by trisomy of human chromosome 21, which results in the altered expression of over 300 genes. This neurodevelopmental syndrome is characterized by distinctive facial dysmorphology and an uneven cognitive phenotype including relative strengths and weaknesses. Relative strengths include visual processing, receptive vocabulary, and social-emotional functioning (though performance in these domains generally falls below the level expected for typically developing individuals). Relative weaknesses include verbal working memory, expressive language, and motor ability. However, the phenotype of individuals with DS is far from homogeneous, and a wide range of individual differences is present at every level of description. On the genetic level, the trisomy can occur through different mechanisms at distinct developmental time points, and the expression of trisomy 21 may be modulated by different genes across individuals. On the level of the brain, individual differences in brain structure and/or function correlate with variation in cognition and behavior, including communication skills. Large individual differences can also be observed on the cognitive level. For example, while some toddlers with DS are nonverbal, others reach expressive vocabulary levels close to those of typically developing children. A wide range of individual differences has also been reported in other areas, including the motor domain, sleep, parent-child interaction, and medical and psychiatric comorbidities. In order to understand a neurodevelopmental syndrome such as DS, it is crucial to consider individual variations at multiple levels of description and the interactions between them over developmental time. A more complex, dynamic view that goes beyond a description of DS as a homogenous group is thus required.

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.

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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