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Статті в журналах з теми "Down syndrome"

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Автор: Grafiati

Опубліковано: 4 червня 2021

Оновлено: 31 липня 2024

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1

Duchoslavová, Lenka. "Down syndrome." Kontakt 9, no. 2 (December 21, 2007): 416–21. http://dx.doi.org/10.32725/kont.2007.063.

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2

Dr. Apte M. V, Dr Apte M. V., and Dr Suresh D. Gangane. "Clinical Profile of Down Syndrome Cases." International Journal of Scientific Research 2, no. 2 (June 1, 2012): 273–74. http://dx.doi.org/10.15373/22778179/feb2013/91.

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3

Hobson-Rohrer, W. L., and L. Samson-Fang. "Down Syndrome." Pediatrics in Review 34, no. 12 (December 1, 2013): 573–74. http://dx.doi.org/10.1542/pir.34-12-573.

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4

Hobson-Rohrer, Wendy L., and Lisa Samson-Fang. "Down Syndrome." Pediatrics In Review 34, no. 12 (December 1, 2013): 573–74. http://dx.doi.org/10.1542/pir.34.12.573.

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5

DAVIES, M. K., and A. HOLLMAN. "Down syndrome." Heart 86, no. 2 (August 1, 2001): 130. http://dx.doi.org/10.1136/hrt.86.2.130.

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6

Bull, Marilyn J. "Down Syndrome." New England Journal of Medicine 382, no. 24 (June 11, 2020): 2344–52. http://dx.doi.org/10.1056/nejmra1706537.

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7

&NA;. "DOWN SYNDROME." Advances in Neonatal Care 9, no. 1 (February 2009): 31–33. http://dx.doi.org/10.1097/01.anc.0000346093.50981.89.

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8

Prasher, Vee, and Cliff Cunningham. "Down syndrome." Current Opinion in Psychiatry 14, no. 5 (September 2001): 431–36. http://dx.doi.org/10.1097/00001504-200109000-00002.

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9

SMITH, JEAN C., WILLIAM L. COLEMAN, ADRIAN D. SANDLER, and CATHERINE L. GRUS. "DOWN SYNDROME." Journal of Developmental & Behavioral Pediatrics 18, no. 2 (April 1997): 134. http://dx.doi.org/10.1097/00004703-199704000-00021.

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10

Crain, Lucy S. "Down Syndrome." Journal of Developmental & Behavioral Pediatrics 20, no. 4 (August 1999): 297. http://dx.doi.org/10.1097/00004703-199908000-00016.

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11

Van Dyke, Don C., and Cheryl A. Gahagan. "Down Syndrome." Clinical Pediatrics 27, no. 9 (September 1988): 415–18. http://dx.doi.org/10.1177/000992288802700901.

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12

Caputo, Anthony R., Rudolph S. Wagner, David R. Reynolds, Suqin Guo, and Ameet K. Goel. "Down Syndrome." Clinical Pediatrics 28, no. 8 (August 1989): 355–58. http://dx.doi.org/10.1177/000992288902800804.

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13

RIMMERMAN, ARIE. "Down Syndrome." International Journal of Rehabilitation Research 17, no. 3 (September 1994): 278. http://dx.doi.org/10.1097/00004356-199409000-00010.

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14

DAVIES, M. K. "Down syndrome." Heart 86, no. 2 (August 1, 2001): 130. http://dx.doi.org/10.1136/heart.86.2.130.

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15

Hayes, Adadot, and Mark L. Batshaw. "Down Syndrome." Pediatric Clinics of North America 40, no. 3 (June 1993): 523–35. http://dx.doi.org/10.1016/s0031-3955(16)38548-0.

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16

Desai, Sindoor S. "Down syndrome." Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology 84, no. 3 (September 1997): 279–85. http://dx.doi.org/10.1016/s1079-2104(97)90343-7.

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17

Baird, PA. "Down syndrome." Biomedicine & Pharmacotherapy 44, no. 1 (January 1990): 62. http://dx.doi.org/10.1016/0753-3322(90)90076-l.

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18

&NA;. "DOWN SYNDROME." Plastic and Reconstructive Surgery 82, no. 1 (July 1988): 200. http://dx.doi.org/10.1097/00006534-198807000-00057.

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19

&NA;. "DOWN SYNDROME." Plastic and Reconstructive Surgery 82, no. 1 (July 1988): 200. http://dx.doi.org/10.1097/00006534-198882010-00057.

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20

Capone, George T. "Down Syndrome." Infants & Young Children 17, no. 1 (January 2004): 45–58. http://dx.doi.org/10.1097/00001163-200401000-00007.

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21

Takashima, Sachio. "Down syndrome." Current Opinion in Neurology 10, no. 2 (April 1997): 148–52. http://dx.doi.org/10.1097/00019052-199704000-00013.

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22

Amirfeyz, Rouin, Demetris Aspros, and Martin Gargan. "Down syndrome." Current Orthopaedics 20, no. 3 (June 2006): 212–15. http://dx.doi.org/10.1016/j.cuor.2006.01.003.

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23

Kava, Maina P., Milind S. Tullu, Mamta N. Muranjan, and K. M. Girisha. "Down syndrome:." Archives of Medical Research 35, no. 1 (January 2004): 31–35. http://dx.doi.org/10.1016/j.arcmed.2003.06.005.

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24

Bianca, Sebastiano, and M. Bianca. "Down Syndrome." Archives of Medical Research 36, no. 2 (March 2005): 183. http://dx.doi.org/10.1016/j.arcmed.2004.12.017.

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25

Catalano, Robert A. "Down syndrome." Survey of Ophthalmology 34, no. 5 (March 1990): 385–98. http://dx.doi.org/10.1016/0039-6257(90)90116-d.

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26

Wei, Miao, Natasha Lepore, Kelli Paulsen, and Jonathan D. Santoro. "Down syndrome with co-occurring Marfan syndrome." BMJ Case Reports 13, no. 9 (September 2020): e235988. http://dx.doi.org/10.1136/bcr-2020-235988.

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Анотація:

Down syndrome (DS) and Marfan syndrome (MFS) are two unique genetic disorders that share limited phenotypic overlap. There are very few reported cases in the existing literature on overlapping DS and MFS. Although these two disorders are phenotypically unique, features present in these cases are variable, resulting in mixed and dominant expressions of particular features. We present the first adolescent case of trisomy 21 associated DS and fibrillin-1 gene associated MFS in the literature who had a height at 90th percentile for an 11-year old boy and discuss the implications of this case in terms of future medical care when these two genetic syndromes are present in the same individual. Understanding of certain features of the ‘non-dominating’ syndrome is crucial for clinicians to recognise when DS co-occurs with MFS. Close monitoring of the cardiovascular, ophthalmologic and musculoskeletal systems is recommended if both syndromes are diagnosed given that both can be independently associated with disorders in these organ systems.

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27

Sun, Deborah H., and Julius Kerkay. "Correlation of the Down Syndrome Protein with Down Syndrome." Analytical Letters 23, no. 5 (May 1990): 819–31. http://dx.doi.org/10.1080/00032719008052484.

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28

Szatkowska, Marta, Dominika Zimny, and Ewa Barg. "Down syndrome and hyperthyroidism – two case reports." Pediatric Endocrinology Diabetes and Metabolism 21, no. 2 (2015): 93–96. http://dx.doi.org/10.18544/pedm-21.02.0030.

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29

Makwana, Mohan, Vishnoi R.K, Jai Prakash Soni, Kapil Jetha, Suresh Kumar Verma, Pradeep Singh Rathore, and Monika Choudhary. "DOWN SYNDROME WITH MOYAMOYA SYNDROME." Journal of Evidence Based Medicine and Healthcare 4, no. 29 (April 10, 2017): 1735–37. http://dx.doi.org/10.18410/jebmh/2017/338.

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30

Berg, Joseph M., and Marika Korossy. "Down syndrome before down: A retrospect." American Journal of Medical Genetics 102, no. 2 (2001): 205–11. http://dx.doi.org/10.1002/1096-8628(20010801)102:2<205::aid-ajmg1454>3.0.co;2-c.

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31

Berg, Joseph M. "Down syndrome before down: A postscript." American Journal of Medical Genetics 116A, no. 1 (December 10, 2002): 97–98. http://dx.doi.org/10.1002/ajmg.a.10840.

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32

Buckley, Frank. "Modelling Down syndrome." Down Syndrome Research and Practice 12, no. 2 (2008): 98–102. http://dx.doi.org/10.3104/updates.2054.

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33

Kumar Agrawal, Adesh. "Scroll Down Syndrome." Journal of Anxiety & Depression 5, no. 1 (April 6, 2022): 144. http://dx.doi.org/10.46527/2582-3264.144.

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34

Cooper, Lucienne, and Nicola Enoch. "Down syndrome training." British Journal of Midwifery 30, no. 8 (August 2, 2022): 428–29. http://dx.doi.org/10.12968/bjom.2022.30.8.428.

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35

Maurice Delabar, Jean. "Syndrome de Down." médecine/sciences 26, no. 4 (April 2010): 371–76. http://dx.doi.org/10.1051/medsci/2010264371.

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36

Riou, Morgan. "Down syndrome screening." Vocation Sage-femme 18, no. 139 (July 2019): 45–47. http://dx.doi.org/10.1016/j.vsf.2019.05.010.

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37

Palumbo, Michelle. "54.4 DOWN SYNDROME." Journal of the American Academy of Child & Adolescent Psychiatry 59, no. 10 (October 2020): S83. http://dx.doi.org/10.1016/j.jaac.2020.07.345.

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38

Feingold, Murray. "Down syndrome adults." American Journal of Medical Genetics 124A, no. 4 (2004): 416. http://dx.doi.org/10.1002/ajmg.a.20389.

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39

Roizen, Nancy J. "Overview: Down syndrome." Mental Retardation and Developmental Disabilities Research Reviews 2, no. 2 (1996): 65. http://dx.doi.org/10.1002/(sici)1098-2779(1996)2:2<65::aid-mrdd1>3.0.co;2-w.

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40

Stephenson, J. "Diagnosing Down Syndrome." JAMA: The Journal of the American Medical Association 286, no. 22 (December 12, 2001): 2801—a—2801. http://dx.doi.org/10.1001/jama.286.22.2801-a.

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41

Stephenson, Joan. "Diagnosing Down Syndrome." JAMA 286, no. 22 (December 12, 2001): 2801. http://dx.doi.org/10.1001/jama.286.22.2801-jwm10013-2-1.

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42

Hook, Ernest B., John M. Opitz, and James F. Reynolds. "Risk of down syndrome among relatives of down syndrome individuals." American Journal of Medical Genetics 22, no. 1 (September 1985): 213–14. http://dx.doi.org/10.1002/ajmg.1320220120.

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43

Kratz, Christian P., and Shai Izraeli. "Down syndrome, RASopathies, and other rare syndromes." Seminars in Hematology 54, no. 2 (April 2017): 123–28. http://dx.doi.org/10.1053/j.seminhematol.2017.04.008.

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44

Magdalena Christanti Risti, Stefani. "Prevalence of Hypodontia in Down Syndrome (Scoping Review)." International Journal of Science and Research (IJSR) 12, no. 6 (June 5, 2023): 1507–14. http://dx.doi.org/10.21275/sr23612191259.

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45

Isnawijayani, Isnawijayani. "KOMUNIKASI ORANGTUA UNTUK ANAK PENDERITA DOWN SYNDROME." Jurnal Inovasi 13, no. 1 (February 5, 2019): 20–33. http://dx.doi.org/10.33557/jurnalinovasi.v13i1.608.

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Анотація:

The purpose of this study illustrate the Children who are born with disabilities or mental retardation. Has characteristics that are easily recognizable as mental retardation (mental obstacles), visual impairment (visual barriers), hearing impairment (hearing barriers), physical impairment (disability). Seen as a useless person. Not many people know that they can also be self-sufficient and achievement. Communication with parents to see children with Down Syndrome. With descriptive qualitative methods, this study using the Theory of Applied Behaviour Analysis (ABA) on Ivar O.Lavass to change deviant behavior to control the behavior of children with Down syndrome. organize a matter of habit and teaching capabilities required to accept the way of communication and behavior in the family. The author has observed a child with Down syndrome by interviewing parents plus a look at the achievements that can be achieved Down syndrome children. It turned out that the success of Down syndrome children participate in daily life activities, introduced like a normal person, respond to and appreciated. Communication with mercy and patience and practice areas of interest, can make a Down syndrome child independently, achieving even be the name of the nation. Tujuan penelitian ini menggambarkan Anak yang dilahirkan dengan berkebutuhan khusus atau down syndrome. Memilik karakteristik yang mudah dikenali dengan sebutan tunagrahita (hambatan mental), tunanetra (hambatan penglihatan), tunarungu (hambatan pendengaran), tunadaksa (cacat tubuh). Dipandang sebagai orang yang tidak berguna. Belum banyak yang mengetahui bahwa mereka ini juga dapat mandiri dan berprestasi. Dengan melihat Komunikasi orangtua terhadap anak penderita down Syndrom. Dengan metode deskriptif kualitatif, penelitian ini menggunakan Teori Applied BehaviourAnalysis (ABA) dari Ivar O.Lavass yangdapat mengubah perilaku menyimpang untuk mengontrol perilaku anak down syndrome. mengatur masalah kebiasaan dan mengajarkan kemampuan yang diperlukan dengan menerima cara komunikasi dan perilaku dalam keluarganya. Penulis mengamati seorang anak down syndrome dengan mewawancarai orangtuanya ditambah dengan melihat prestasi-prestasi yang dapat diraih anak-anak down syndrom. Ternyata keberhasilan anak down syndrome kesehariannya diikutsertakan dalam aktivitas kehidupan, dikenalkan layaknya orang normal, direspon dan dihargai. Dengan komunikasi kasihsayang dan kesabaran serta latihan bidang yang diminati, dapat menjadikan anak down syndrome mandiri, berprestasi bahkan dapat mengharumkan nama bangsa

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46

Bihunyak, T. V., Yu I. Bondarenko, O. O. Кulyanda, S. M. Charnosh, A. S. Sverstiuk, and K. O. Bihuniak. "CHROMOSOMAL DISEASES IN THE HUMAN PATHOLOGY." International Journal of Medicine and Medical Research 6, no. 1 (November 10, 2020): 50–60. http://dx.doi.org/10.11603/ijmmr.2413-6077.2020.1.11501.

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Анотація:

Background. Chromosomal diseases are the cause of 45-50 % of multiple birth defects. Basic research on mutations is performed using genomic technologies to identify a correlation between genotype and phenotype in aneuploidies and to understand its pathogenesis. Objective. The aim of the research is to study the etiology, pathogenesis of symptoms and diagnostics for patients with Down, Klinefelter, Turner syndromes and double aneuploidies by 21 and sex chromosomes. Methods. A literature review by the keywords “Down syndrome”, “Klinefelter syndrome”, “Turner syndrome”, “double aneuploidy” for the period of 2000-2020 was carried out. Results. Down, Klinefelter and Turner syndromes are the most common aneuploidy among viable newborns. Frequency of meiotic non-disjunction events causing these aneuploidies increases with the age of a woman. Identified genes are responsible for pathogenesis of symptoms in trisomy 21, Turner and Klinefelter syndromes. Diagnostics of chromosomal diseases includes prenatal screening programs and postnatal testing. Conclusions. Cytogenetic variants of Down syndrome are simple complete trisomy 21, translocation form and mosaicism. Trisomy 21 is associated with advanced maternal age. Phenotypic manifestations of Down syndrome are associated with the locus 21q22. The maternal and parental nondisjunction of X-chromosomes in meiosis causes Klinefelter and Turner syndromes. These chromosomal diseases are variants of intersexualism with intermediate chromosomal sex. Down-Klinefelter and Down-Turner syndromes are double aneuploidies. Patients have a Down syndrome phenotype at birth, and signs of Klinefelter and Turner syndromes occur during puberty. Diagnosis of aneuploidy is based on the cytogenetic investigation (karyotyping), DNA analysis, ultrasonography and biochemical markers of chromosomal pathology.

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47

Vis, J. C., K. van Engelen, J. Timmermans, B. C. Hamel, and B. J. M. Mulder. "Marfan syndrome masked by Down syndrome?" Netherlands Heart Journal 17, no. 9 (September 2009): 345–48. http://dx.doi.org/10.1007/bf03086281.

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48

Crispino, John D. "Up and down in Down syndrome: AMKL." Blood 107, no. 4 (February 15, 2006): 1251–52. http://dx.doi.org/10.1182/blood-2005-11-4672.

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49

Fajar, Ibtesam-E., Taimur Khalil Sheikh, Huma Bashir Janjua, Daniyal Ahmed, Iman Baig, Sundus Asghar Baig, and Aamna Khokhar. "Conservative Management Techniques for Ideal Grooming and Upbringing of Downs Syndrome Children." Pakistan Journal of Medical and Health Sciences 16, no. 3 (March 31, 2022): 1096–99. http://dx.doi.org/10.53350/pjmhs221631096.

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Анотація:

Introduction: Down syndrome are slow learners having mild to moderate intellectual disability with co-morbidities, we need to pay special attention on conservative management techniques like early intervention programs, speech therapies, physiotherapies, exercises, sports, schooling and education etc. to make these children intellectual, groomed and compatible for a normal life. Objective: To identify the conservative management techniques for improving the quality of life for down syndromes. Methodology: A descriptive cross-sectional survey (designed after literature search) was conducted from the parents of Down Syndromes at special children’s schools in Islamabad and Rawalpindi according to inclusion criteria i.e., School going down syndromes and residents of Islamabad and Rawalpindi, in an interactive counselling session conducted by authors in collaboration with pediatrician, keeping the questionnaire anonymous. After data collection it was entered in SPSS v25 for statistical analysis in terms of frequencies and percentages. Results: For the management of Down Syndromes, out of 44 parents, 81.8% (n=36) agreed on home based teaching, 77.3% (n=34) agreed on exercise, gym and sports for down syndromes. Around 86.4% (n=38) agreed on speech therapy and social interactions, 70.5% (n=31) parents agreed on controlled and healthy diet and 77.3% (n=34) parents said brain storming and learning new things should be in practice for down syndromes. Conclusion: Down syndrome is a complex condition requiring a multi-disciplinary team of professionals to manage the myriad of problems faced by the patients. Aside from these, a vital role is played by parents, teachers & the community itself in taking care of these special individuals. Also, Down syndrome is characterized by learning disabilities as its hallmark feature but their learning abilities can be improved through certain conservative management techniques. If these techniques are adopted, individuals with Down syndrome can learn certain skills and become a useful member of the society. Keywords: Down Syndrome, School, Exercise

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50

Fajar, Ibtesam-E., Taimur Khalil Sheikh, Huma Bashir Janjua, Daniyal Ahmed, Iman Baig, Sundus Asghar Baig, and Aamna Khokhar. "Conservative Management Techniques for Ideal Grooming and Upbringing of Downs Syndrome Children." Pakistan Journal of Medical and Health Sciences 16, no. 5 (May 26, 2022): 71–73. http://dx.doi.org/10.53350/pjmhs2216571.

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Анотація:

Background: Down syndrome are slow learners having mild to moderate intellectual disability with co-morbidities, we need to pay special attention on conservative management techniques like early intervention programs, speech therapies, physiotherapies, exercises, sports, schooling and education etc. to make these children intellectual compatible for a normal life. Aim: To identify the conservative management techniques for improving the quality of life for down syndromes. Methodology: A descriptive cross-sectional survey (designed after literature search) was conducted from the parents of Down Syndromes at special children’s schools in Islamabad and Rawalpindi according to inclusion criteria i.e., school going down syndromes and residents of Islamabad and Rawalpindi, in an interactive counselling session conducted by authors in collaboration with pediatrician, keeping the questionnaire anonymous. Results: For the management of Down Syndromes, out of 44 parents, 36(81.8%) agreed on home based teaching, 34(77.3%) agreed on exercise, gym and sports for down syndromes. Around 38(86.4%) agreed on speech therapy and social interactions, 31(70.5%) parents agreed on controlled and healthy diet and 34(77.3%) parents said brain storming and learning new things should be in practice for down syndromes. Conclusion: Down syndrome is a complex condition requiring a multi-disciplinary team of professionals to manage the myriad of problems faced by the patients. Aside from these, a vital role is played by parents, teachers & the community itself in taking care of these special individuals. Also, Down syndrome is characterized by learning disabilities as its hallmark feature but their learning abilities can be improved through certain conservative management techniques. Keywords: Down Syndrome, School, Exercise

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