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Journal articles on the topic 'Down’s syndrome'

Author: Grafiati

Published: 4 June 2021

Last updated: 30 May 2022

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1

Gajbhiye, Nilima, and Ritika Gaitonde. "EPIDEMIOLOGY OF DOWN’S SYNDROME & Β- THALASSEMIA IN INDIA." International Journal of Research -GRANTHAALAYAH 10, no. 2 (March 10, 2022): 145–51. http://dx.doi.org/10.29121/granthaalayah.v10.i2.2022.4515.

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Down’s syndrome and Beta (β) Thalassemia are commonly prevalent genetic diseases worldwide. Down’s syndrome is predominantly caused by an extra copy of chromosome 21 or trisomy 21. Maternal age above 35 years significantly increases the chances of a Down’s syndrome birth. In India, there are approximately 21,000 Down’s syndrome births every year. β-Thalassemia is a blood disorder caused by abnormal synthesis of the β chains of hemoglobin. India has over 35-45 million carriers of this disease. This is a survey-based study, which aims to understand the epidemiology of Down’s syndrome and Beta Thalassemia in the Indian population. This online survey was answered by 297 Indian or Indian origin adults. Both females and males were the respondents. Results of the study indicated that prevalence of Down’s syndrome is low in India while that of β-thalassemia is moderate. The correlation between the maternal and paternal ages at the time of birth of a Downs syndrome affected person was determined and the analyses showed that there was a positive correlation.

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2

Crawford, Doreen, and Annette Dearmun. "Down’s syndrome." Nursing Children and Young People 28, no. 9 (November 8, 2016): 17. http://dx.doi.org/10.7748/ncyp.28.9.17.s19.

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3

Marsh, Lynne. "Down’s syndrome." Learning Disability Practice 21, no. 3 (May 29, 2018): 16. http://dx.doi.org/10.7748/ldp.21.3.16.s17.

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4

MacLennan, Sarah. "Down’s syndrome." InnovAiT: Education and inspiration for general practice 13, no. 1 (November 26, 2019): 47–52. http://dx.doi.org/10.1177/1755738019886612.

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Down’s syndrome is caused by trisomy of chromosome 21; it is one of the best known chromosomal disorders in humans. It has effects on most body systems, giving rise to a variety of characteristic clinical features including intellectual impairment, short stature, flat face, flat nasal bridge, prominent epicanthic folds, up slanting palpebral fissures and protruding tongue. Down’s syndrome is also associated with an increased risk of other medical conditions. All patients with Down’s syndrome have a degree of intellectual impairment ranging from mild to severe. This article considers the epidemiology, genetics, associated risks, antenatal screening and potential ethico-legal issues relating to the disorder before discussing clinical features, complications and monitoring requirements. Finally, Down’s syndrome management, prognosis, and future diagnostic tests are outlined.

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5

AHMAD, SHAKIL, IMRAN SARWAR, and NISAR KHAN SAJID. "DOWN’S SYNDROME;." Professional Medical Journal 20, no. 06 (December 15, 2013): 898–903. http://dx.doi.org/10.29309/tpmj/2013.20.06.1830.

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Objective: To evaluate the various types of congenital heart defects and to determine their frequency in children withDown’s syndrome. Study Design: Descriptive study. Place and duration of study: Department of Pediatrics, Independent UniversityHospital Faisal Abad Pakistan, from January 2010 to December 2012. Methodology: 93 children between the ages of day 1 to 12 years,diagnosed clinically as Down’s syndrome based on its characteristic phenotypic appearance, were included in the study. A detailedhistory, physical examination and evaluation of cardiovascular status (including Chest x-ray, Electrocardiogram and Echocardiography)were performed in each Down’s syndrome case. Variables of interest included age, sex, maternal age at birth and type and frequency ofcongenital heart disease. Results: Congenital heart disease was present in 48 (51.62%) children out of 93 children with Down’ssyndrome. Congenital cardiac defects in order of predominant type and their frequency included Ventricular septal defect (29, 60.4%),Atrioventricular septal defect (14, 29.1%), Atrial septal defect (2, 4.1%), Patent ductus arteriosis (2, 4.1%) and Tetralogy of Fallots (1,2%). 68 (73.2%) Down’s syndrome children (n=93) presented during their first year of life with mean age of 7±4 months. Malepredominance was observed in both with and without congenital heart disease Down’s syndrome children (male: female 1.7:1 and 2.5:1respectively). Mean maternal age at birth was 27±2 years. Conclusions: Congenital heart disease (CHD) is frequently associated withDown’s syndrome (DS). Ventricular septal defects and atrioventricular septal defects are the most common forms of CHDs in DS childrenof our region. Their earlier presentation (in infancy) and significant contribution to the morbidity and mortality of DS children warrantsearly diagnosis of DS and mandatory screening of all DS children for associated CHDs.

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Ram, Bhargav, Dhaya Ann Varghese, Rishikesh Kumar, Anuradha Naganagoudar, Manjunath Vijapur, and Vasanth Kattimani. "Osteosarcoma presenting as ludwig’s angina in a down’s syndrome patient: A case report." Journal of Dental Specialities 9, no. 2 (December 15, 2021): 72–75. http://dx.doi.org/10.18231/j.jds.2021.018.

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Individuals with Down's Syndrome are predisposed to leukaemia, possibly other malignancies, various infection as well as increased mortality from other causes. osteosarcoma has been linked to genetic illnesses such as hereditary retinoblastoma, Li-Fraumeni syndrome, and Rothman-Thomson syndrome, it has not been linked to Down syndrome. Treatment plan for osteosarcoma includes surgical resection with systemic chemotherapy. Osteosarcoma is highly resistant to radiotherapy. Here we present a 21 year old female patient which is a unique case of Osteosarcoma in Down’s Syndrome patient presenting as Ludwig’s Angina. This current report highlights a clinical presentation of Osteosarcoma in Down’s Syndrome.

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7

Lakshminarayana, Prema. "Translocation Down’s syndrome." Indian Journal of Pediatrics 57, no. 2 (March 1990): 265–71. http://dx.doi.org/10.1007/bf02722100.

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8

Achmad, Harun, Dian Eka K, and Stefani Wijaya. "Prevalence of dental caries and anterior teeth malrelation to children with Down’s syndrome in Makassar Prevalensi karies gigi dan malrelasi gigi anterior pada anak penderita sindroma Down di Makassar." Journal of Dentomaxillofacial Science 11, no. 2 (June 30, 2012): 69. http://dx.doi.org/10.15562/jdmfs.v11i2.298.

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This study aimed to describe the prevalence of dental caries and malrelation of anterior teeth of Down’s syndromechildren in the city of Makassar. The samples were 46 Down's syndrome children who attended schools forhandicapped children or Sekolah Luar Biasa (SLB), namely SLB-C Pembina Tingkat Provinsi, SLB-C CatholicRajawali, SLB-D YPAC, and SLB Prima Karya Antang, selected by purposive sampling technique. Each sample wasexamined clinically by crossed-sectional approach. Condition of caries was recorded with the DMF-T index. Clinicalobservation of anterior teeth including anterior openbite, crossbite, edge to edge, labioversion, crowded was also done.The results show that the prevalence of dental caries among the Down’s syndrome children in Makassar is 82.6%, themean of DMF-T scores is 3.69. According to the interpretation of the WHO, this belongs to moderate category. Themost significant relation is labioversion as with 28.27%. Our results show that Down’s syndrome children in Makassarhave a high prevalence dental caries, with the most significant malrelation is labioversion.

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9

KISHNANI, PRIYA S., GAIL A. SPIRIDIGLIOZZI, JAMES H. HELLER, JENNIFER A. SULLIVAN, P. MURALI DORAISWAMY, and K. RANGA RAMA KRISHNAN. "Donepezil for Down’s Syndrome." American Journal of Psychiatry 158, no. 1 (January 2001): 143. http://dx.doi.org/10.1176/appi.ajp.158.1.143.

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10

Mafrica, Federica, Daniela Schifilliti, and Vincenzo Fodale. "Pain in Down’s Syndrome." TheScientificWorldJOURNAL 6 (January 26, 2006): 140–47. http://dx.doi.org/10.1100/tsw2006.27.

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11

Whittle, Martin J. "Screening for Down’s syndrome." British Journal of Midwifery 1, no. 3 (July 2, 1993): 109. http://dx.doi.org/10.12968/bjom.1993.1.3.109.

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12

Abousamra, Oussama, Maria del Pilar Duque Orozco, Mehmet S. Er, Kenneth J. Rogers, Julieanne P. Sees, and Freeman Miller. "Scoliosis in Down’s syndrome." Journal of Pediatric Orthopaedics B 26, no. 4 (July 2017): 383–87. http://dx.doi.org/10.1097/bpb.0000000000000378.

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13

Mafrica, MD, Federica, and Vincenzo Fodale, MD. "Opioids and Down’s syndrome." Journal of Opioid Management 2, no. 2 (March 1, 2006): 93. http://dx.doi.org/10.5055/jom.2006.0015.

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Opioids are used in clinical practice for sedation, anesthesia, and analgesia. Their effects depend on their pharmacokinetic and pharmacodynamic characteristics. The liver is the major site for the biotransformation of most opioids. The major metabolic pathway is oxidation. Metabolism influences distribution, clearance, onset, and offset of opioid drugs. Action also depends on the coupling of opioids with the class of receptors involved and on localization of specific receptors. Three major types of opioid receptors, designated as μ, ẟ, and ϰ, present in the central nervous system, are coupled to G proteins and inhibit adenylyl cyclase. Down’s syndrome is a congenital condition characterized by mental retardation and particular physical features. Neurotransmission alterations are important. Alteration in the concentration of opioids in the cortex of these patients has been demonstrated. Neurobiological abnormalities and, in some, abnormalities in the neurotransmission systems, anxiety, and, in particular, nociception all suggest that structural and functional alterations of opioid receptors may be present. A clear knowledge of these multiple abnormalities is essential for skillful management of the perioperative period and for a good outcome for patients with Down’s syndrome.

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14

Mulhim, Ibrahim AI. "Down’s syndrome with transient myeloproliferative syndrome." Indian Journal of Pediatrics 57, no. 2 (March 1990): 253–55. http://dx.doi.org/10.1007/bf02722097.

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15

Bestwick, Jonathan P., and Nicholas J. Wald. "Antenatal reflex DNA screening for trisomy 18 and trisomy 13 in addition to Down’s syndrome." Journal of Medical Screening 23, no. 4 (July 8, 2016): 171–74. http://dx.doi.org/10.1177/0969141315617982.

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Objective Antenatal reflex DNA screening for Down’s syndrome has a high screening performance. We aimed to determine the performance of trisomy 18 and trisomy 13 reflex DNA screening when added to Down’s syndrome screening. Methods In our modelled screening protocol, women provide two samples: a serum sample for a Combined test and a plasma sample for a possible DNA test. Women with Down’s syndrome, trisomy 18, or trisomy 13 Combined test risks above a single cut-off have a reflex DNA test using the plasma sample, without the need to recall them to collect another sample and provide counselling. Women with a failed DNA test (after a second attempt using a fresh plasma sample) have an Integrated test, and are classified as positive if any of the Down’s syndrome, trisomy 18, or trisomy 13 Integrated test risks are greater than 1 in 25. Results At 1 in 800 term risk cut-offs for Down’s syndrome, trisomy 18, and trisomy 13, an estimated 10% of women are reflexed to DNA screening, yielding a 91% Down’s syndrome detection rate, an 89% trisomy 18 detection rate, and a 79% trisomy 13 detection rate for a 0.05% false-positive rate. At a 1 in 1900 term risk cut-off for Down’s syndrome, trisomy 18, or trisomy 13, an estimated 20% of women are reflexed to DNA screening, and this yields a 94% Down’s syndrome detection rate, a 92% trisomy 18 detection rate, and an 84% trisomy 13 detection rate for a 0.10% false-positive rate. Conclusion Reflex DNA screening for trisomies 18 and 13 can be usefully added to reflex DNA screening for Down’s syndrome.

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16

Kankaria, Jeevan, and Santosh Madagond. "Cholelithiasis with epigastric hernia in down’s syndrome: a case report." International Surgery Journal 9, no. 3 (February 28, 2022): 699. http://dx.doi.org/10.18203/2349-2902.isj20220649.

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Down’s syndrome is associated with various congenital anomalies, musculoskeletal abnormalities and also various anatomical variation in organ systems. In this report we are presenting a case of cholelithiasis with Epigastric hernia in 42 years Male down’s syndrome patient, on laparoscopic exploration found multiple rectus sheath defects in epigastric region and Moynihan hump. A rare case of Down’s syndrome with multiple anterior abdominal wall defects.

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17

Wagh, Prashant S., Subhash Kashyape, and Swati Wagh. "Thyroid dsyfunctions in down’s syndrome." Panacea Journal of Medical Sciences 12, no. 1 (April 15, 2022): 153–55. http://dx.doi.org/10.18231/j.pjms.2022.029.

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Down’s syndrome is one of the common chromosomal abnormalities seen. Also means yes having thyroid dysfunctions would be better than neonatal having thyroid dysfunction. The patients having Down’s syndrome are having thyroid dysfunction and the children having down’s syndrome are at higher risk to have thyroid dysfunction and these children are having both the hypothyroidism and hyperthyroidism. The present study aims at identifying the thyroid dysfunctions among the patients having Down’s syndrome. : The present study is an observational study which is being conducted in tertiary care hospital from March 2018 to June 2019. In this study 80 neonatal having Down’s syndrome were being examined and the thyroid function tests are being performed on the patients for identifying the prevalence of thyroid dysfunction in patients with Down’s syndrome. The patients are being selected on the basis of inclusion and exclusion criteria. In the present study it is being found that 56% of the patients were having normal thyroid function and 44% were having abnormal thyroid function. TSH value of the patients having abnormal thyroid function is significantly higher as compared to the patients having normal thyroid function. The mean of FT3 (pg/ml) among the patients having normal and abnormal thyroid function was found to be 2.9±0.4 and 2.5±0.9 respectively and the mean of FT4 (pg/ml) among the patients having normal and abnormal thyroid function was found to be 14.9±8.4 and 2.5±0.9 respectively 13.5±7.9. The study concluded that there is a significant impact of down syndrome on the thyroid function and the patients having down syndrome are at higher risk of thyroid diseases as it is found that the patients having down syndrome are having abnormal thyroid function and higher TSH value.

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18

Springer, Drahomira, Jaroslav Loucky, Pavel Tesner, David Cutka, David Stejskal, Vladimir Gregor, and Tomas Zima. "Importance of the integrated test in the Down’s syndrome screening algorithm." Journal of Medical Screening 25, no. 3 (March 25, 2018): 114–18. http://dx.doi.org/10.1177/0969141317752533.

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Objective In the Czech Republic, over 97% of all pregnant women undergo some type of antenatal screening for Down’s syndrome. In about 95% of cases with a confirmed fetal chromosomal abnormality, the pregnancy is terminated. The most commonly used test is the first trimester combined test. We investigated the impact of implementing an integrated sequential test to improve the detection of Down’s syndrome pregnancies. Methods Data on the incidence of congenital defects, number of births, and affected pregnancies terminated are recorded in the National Registry of Congenital Anomalies. Anonymous data on cases of Down’s syndrome diagnosed antenatally or postnatally between 2010 and 2015 in one of the large antenatal care centers were analyzed. Results There were 600 diagnoses of Down’s syndrome (5.7 per 1000 births), 90% of which were made antenatally. Of antenatally detected cases, 80% were indicated for diagnostic procedure by multimarker screening results. In the multimarker screen positive group, 75% cases were first trimester positive and 25% second trimester positive (most of these had positive integrated test results). Among Down’s syndrome cases indicated for antenatal diagnosis by multimarker screening results 6.25% (n = 26) were first trimester negative, and became positive after integration with the second trimester screening results. Conclusions Results from five major Czech antenatal centers confirm that an integrated sequential test would detect 80–85% of Down’s syndrome fetuses in the first trimester and at least an extra 5–10% of Down’s syndrome pregnancies in the second trimester of pregnancy. These are important data that should be considered in implementing the national antenatal screening program.

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19

Lev, N. S., M. V. Kostyuchenko, I. E. Zorina, L. V. Sokolova, and Yu L. Mizernitsky. "Multiple subpleural cysts in the lungs in a child with Down’s syndrome." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 66, no. 4 (September 29, 2021): 95–100. http://dx.doi.org/10.21508/1027-4065-2021-66-4-95-100.

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Down’ssyndrome is the most common chromosomal abnormality in live births. Due to the complete or partialtrisomy of chromosome 21the Down’s syndrome causes cognitive impairment, dysmorphic features and congenital mal formations. Pulmonary disease is the most common cause of death in patients with Down’s syndrome. The article highlights the pulmonological problems of the patients, and it also describes a clinical case of a child with Down’s syndrome with pulmonary pathology.

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20

Ferdouse, Zannatul, Kazi Ashraful Islam, Afsana Anwar Miti, Sayeda Tabassum Alam, Shaheen Akhter, Md Mizanur Rahman, and Bazlul Karim. "Serologically (tTG) Detected Celiac Disease Cases in Children with Down’s Syndrome." Northern International Medical College Journal 9, no. 1 (March 12, 2018): 271–73. http://dx.doi.org/10.3329/nimcj.v9i1.35927.

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Background : Down’s syndrome (DS) is the most common chromosomal abnormality. Some autoimmune diseases are over represented in children with DS like insulin dependent diabetes mellitus, autoimmune thyroiditis and celiac disease (CD). Classical presentations of CD may be absent in children with Down’s syndrome. Worldwide different tests are available for the diagnosis of CD. Among these, tissue transglutaminase (tTG) is cost effective, sensitive and the only test available in Bangladesh.Objective : To ascertain the frequency of celiac disease and their clinical presentations in children with Down’s syndrome by doing serum tTG (IgA) level.Methods : A cross sectional study was carried out in the department of Paediatric Gastroenterology and Nutrition and Paediatric Neurology of Bangabandhu Sheikh Mujib Medical university (BSMMU ) Dhaka, Bangladesh. Blood samples of 30 consecutive cases of DS were taken for estimation of tissue transglutaminase (IgA) level and clinical features of all positive cases were also recorded.Result : Tissue transglutaminase (tTG) was detected in 10% cases of studied Down’s syndrome children. One third of patients, who had CD, had growth failure. Common features of associated CD cases were dirrhoea, vomiting and abdominal pain.Conclusion : Celiac disease was found in 10% of the studied cases of Down’s syndrome in the present study. Serological tests for celiac disease could be performed in all cases of Down’s syndrome whether it would be symptomatic or asymptomaticNorthern International Medical College Journal Vol.9(1) July 2017: 271-273

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21

Millichap, J. Gordon. "Atlantoaxial Instability in Down’s Syndrome." Pediatric Neurology Briefs 9, no. 3 (March 1, 1995): 21. http://dx.doi.org/10.15844/pedneurbriefs-9-3-9.

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22

Millichap, J. Gordon. "Hippocampal Changes in Down’s Syndrome." Pediatric Neurology Briefs 9, no. 5 (May 1, 1995): 39. http://dx.doi.org/10.15844/pedneurbriefs-9-5-11.

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23

Harvey, Benjamin. "Down’s syndrome: a biopsychosocial perspective." Nursing Standard 18, no. 30 (April 7, 2004): 43–45. http://dx.doi.org/10.7748/ns2004.04.18.30.43.c3587.

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24

Gupta, Mrinal. "Eruptive syringomas in Down’s syndrome." Our Dermatology Online 9, no. 2 (April 2, 2018): 174–75. http://dx.doi.org/10.7241/ourd.20182.18.

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25

Bhatt, N., L. Murchison, M. Kulkarni, G. Yardy, and A. B. Mathur. "Bladder dysfunction in Down’s syndrome." European Urology Supplements 18, no. 5 (September 2019): e2526. http://dx.doi.org/10.1016/s1569-9056(19)32590-4.

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26

Bhatt, N. R., L. Murchison, G. W. Yardy, M. Kulkarni, and A. B. Mathur. "Bladder dysfunction in Down’s syndrome." European Urology Open Science 19 (July 2020): e967-e968. http://dx.doi.org/10.1016/s2666-1683(20)33227-4.

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27

Jacobsen, F. S., and G. Hansson. "Orthopaedic disorders in Down’s syndrome." Current Orthopaedics 14, no. 3 (May 2000): 215–22. http://dx.doi.org/10.1054/cuor.2000.0107.

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28

Schepis, C., M. Siragusa, R. Palazzo, R. M. Ragusa, G. Massi, and G. Fabrizi. "Palpebral Syringomas and Down’s Syndrome." Dermatology 189, no. 3 (1994): 248–50. http://dx.doi.org/10.1159/000246847.

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29

Lewinski, Piotr. "“Death penalty for Down’s syndrome”." Journal of Argumentation in Context 5, no. 2 (October 14, 2016): 172–90. http://dx.doi.org/10.1075/jaic.5.2.04lew.

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In axiological argumentation that refers to issues concerning matters of ethics, politics, or aesthetics, a warrant is derived from a general axiological base, which consists of propositions that are accepted by a particular social group. Such a warrant is supported by ideology, understood as a relatively well organised set of evaluative propositions (justified within frames of the given system). In axiological argumentation beliefs are represented by cultural objects that serve as the arguments. Cultural objects are universals, which have a culturally developed interpretation. Without proper recognition of the interpretant, the correct reading of the sign and its appraisal is impossible. The main purpose of this article is to show how ideological objects constitute the base of the discourse. In analysis of chosen texts I will demonstrate, how at every stage of argumentation arguers exploit the topic and interactive potential of argumentation.

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Menezes, Arnold H., and Timothy C. Ryken. "Craniovertebral Abnormalities in Down’s Syndrome." Pediatric Neurosurgery 18, no. 1 (1992): 24–33. http://dx.doi.org/10.1159/000120638.

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31

Braun, C. M. J., and L. Riopel. "Interhemispheric Transfer in Down’s Syndrome." Behavioural Neurology 5, no. 1 (1992): 43–46. http://dx.doi.org/10.1155/1992/480897.

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Callosal agenesics and callosotomized epileptics manifest markedly increasing simple visual reaction time (SVRT) from conditions of ipsilateral to contralateral stimulus-response relation (SRR). In the contralateral SRR, a response is presumed possible because of presence of other commissures (anterior, intercollicular). The SRR effect is prolonged presumably because the remaining commissures are less efficient than the corpus callosum in relaying necessary visual or motor information. Consequently, the SRR effect is believed to correspond to callosal relay time (CRT) in the normal subject. However, both callosal agenesics and callosotomy patients manifest general slowing of SVRT in addition to a prolonged SRR effect. These patients have massive extra-callosal damage which could plausibly cause both the SVRT and the CUD prolongation. If such were the case, the CRT inference would be in jeopardy. A test of the CRT inference is therefore required where patients with massive diffuse extra-callosal brain damage and normal callosi would show marked general SVRT prolongation and a normal SRR effect. Four trisomy-21 (T21) males were compared to age and sex-matched normal controls. General SVRT was highly significantly prolonged in T21, but the CUD was nearly identical in both groups.

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Salemi, Michele, Concetta Barone, Carmelo Romano, Roberto Salluzzo, Filippo Caraci, Rita Anna Cantarella, Maria Grazia Salluzzo, Filippo Drago, Corrado Romano, and Paolo Bosco. "Pericentrin expression in Down’s syndrome." Neurological Sciences 34, no. 11 (August 27, 2013): 2023–25. http://dx.doi.org/10.1007/s10072-013-1529-z.

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G, Raghavendra Prasad, and Lakshmi Vanguri CVS. "Down’s Syndrome ‑ An Independent Risk Factor of Outcomes in Isolated Congenital Duodenal Atresia." Journal of Neonatal Surgery 7, no. 3 (July 24, 2018): 32. http://dx.doi.org/10.21699/jns.v7i3.787.

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Introduction: There is no consensus in the available literature whether the coexistence of Down’s syndrome has adverse effect on the outcomes of neonates born with congenital duodenal atresia.Materials and Methods: A total of 29 neonates with congenital duodenal atresia were retrospectively studied for demographic details, sepsis parameters at admission, management, morbidity, and mortality. The neonates who were prematureResults: The sepsis parameters such as total leukocyte counts, erythrocyte sedimentation rate, serum procalcitonin levels, and serum C‑reactive protein levels were significantly increased, and the platelets were significantly decreased at admission in Group B subjects, as compared to Group A subjects. There were no complications noted in Group A, while Group B had significant morbidity. The neonates with congenital duodenal atresia with Down’s syndrome had 3.27 times more relative risk of mortality than those without Down’s syndrome. Down’s syndrome appears to be an independent risk factor for mortality in isolated congenital duodenal atresia with attributable risk of 37.8%.Conclusion: The presence of Down’s syndrome is a significant independent adverse risk factor of outcomes in isolated congenital duodenal atresia.

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Chandrasekhar, Priya, and Surekha Ramachandran. "Growth charts for Indian boys (0-36 months) with down’s syndrome: a pilot study." International Journal of Contemporary Pediatrics 5, no. 6 (October 22, 2018): 2156. http://dx.doi.org/10.18203/2349-3291.ijcp20184272.

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Background: Down’s syndrome is the most common genetic condition in the world today and India has one of the highest incidences of Down’s syndrome. It is associated with mental retardation and congenital malformations, especially of the heart. Growth retardation is commonly seen in children with Down’s syndrome. Early identification of a growth problem is important because timely interventions may positively affect the child’s general health and functional abilities as well as supporting growth. Till date no growth charts are available for the children with Down’s Syndrome India. The potential benefits of growth charts include: growth monitoring to detect any deviation in growth patterns, evaluating the efficacy measures aimed at promoting growth, providing reassurance to parents, evaluating the results of clinical research or intervention for individual patients and finally comparing with that of the normal population. Thus, the aim of this study was to create growth charts for Indian children with DS aged 0-36 months to investigate and characterize their size, monitor their growth.Methods: 60 male children between ages 1-36 months with DS were selected from four different pediatric clinics in India. The data used for creation of the growth charts were age at examination (years and months), height (cm), weight (kg), and head circumference (cm). The growth charts cover the time period from birth until 3 years of age. Each child contributed only one single set of data for each age group. The data represent and unselected, therefore presumably unbiased sample of children with DS in India.Results: On comparing the height, weight and head circumference of the normal vs Down’s Syndrome children it is noted that there is significant difference is noted between the Down’s Syndrome and Normal children.Conclusions: As per the outcome of the study it is recommended that there is a vast need of growth chart specific for Down’s Syndrome children which will help the doctor to analyze the height, weight and head circumference of the Down’s Syndrome children.

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Brockmeyer, Douglas. "Down’s Syndrome and Craniovertebral Instability: Topic Review and Treatment Recommendations." Nepal Journal of Neuroscience 2, no. 1 (January 31, 2005): 52–58. http://dx.doi.org/10.3126/njn.v2i1.19995.

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Down’s syndrome, is the most common inherited chromosomal disorder in humans occurring in 1.5 in every 1,000 live births and is characterized by multiple neurological as well as nonneurological abnormalities. The issue of craniovertebral instability in Down’s syndrome patients is a very controversial topic. Multiple studies and editorials have been written over the last two decades and much of the information is conflicting and confusing. The goal of this review is to provide a rational synthesis of this previous work and provide recommendations by which parents of Down’s syndrome patients, pediatricians, family practitioners and other health professionals may make intelligent choices regarding screening of Down’s syndrome patients. It is a second goal of this review to synthesize the surgical data on this topic and provide recommendations for anesthesiologists, otolaryngologists, orthopedic surgeons and neurosurgeons. Nepal Journal of Neuroscience, Volume 2, Number 1, 2005, Page: 52-58

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Hu, Huiying, Yulin Jiang, Minghui Zhang, Shanying Liu, Na Hao, Jing Zhou, Juntao Liu, Xiaojin Zhang, and Liangkun Ma. "A prospective clinical trial to compare the performance of dried blood spots prenatal screening for Down’s syndrome with conventional non-invasive testing technology." Experimental Biology and Medicine 242, no. 5 (January 5, 2017): 547–53. http://dx.doi.org/10.1177/1535370216683837.

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To evaluate, side by side, the efficiency of dried blood spots (DBSs) against serum screening for Down’s syndrome, and then, to construct a two-tier strategy by topping up the fetal cell-free DNA (cfDNA) secondary screening over the high-risk women marked by the primary blood testing to build a practical screening tactic to identify fetal Down’s syndrome. One thousand eight hundred and thirty-seven low-risk Chinese women, with singleton pregnancy, were enrolled for the study. Alpha-fetoprotein and free beta human chorionic gonadotropin were measured for the serum as well as for the parallel DBS samples. Partial high-risk pregnant women identified by primary blood testing (n = 38) were also subject to the secondary cfDNA screening. Diagnostic amniocentesis was utilized to confirm the screening results. The true positive rate for Down’s syndrome detection was 100% for both blood screening methods; however, the false-positive rate was 3.0% for DBS and 4.0% for serum screening, respectively. DBS correlated well with serum screening on Down’s syndrome detection. Three out of 38 primary high-risk women displayed chromosomal abnormalities by cfDNA analysis, which were confirmed by amniocentesis. Either the true detection rate or the false-positive rate for Down’s syndrome between DBS and the serum test is comparable. In addition, blood primary screening aligned with secondary cfDNA analysis, a “before and after” two-tier screening strategy, can massively decrease the false-positive rate, which, then, dramatically reduces the demand for invasive diagnostic operation. Impact statement Children born with Down’s syndrome display a wide range of mental and physical disability. Currently, there is no effective treatment to ease the burden and anxiety of the Down’s syndrome family and the surrounding society. This study is to evaluate the efficiency of dried blood spots against serum screening for Down’s syndrome and to construct a two-tier strategy by topping up the fetal cell-free DNA (cfDNA) secondary screening over the high-risk women marked by the primary blood testing to build a practical screening tactic to identify fetal Down’s syndrome. Results demonstrate that fetal cfDNA can significantly reduce false-positive rate close to none while distinguishing all true positives. Thus, we recommend that fetal cfDNA analysis to be utilized as a secondary screening tool atop of the primary blood protein screening to further minimize the capacity of undesirable invasive diagnostic operations.

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Khusainov, Nikita O., Sergei V. Vissarionov, and Dmitriy N. Kokushin. "Craniocervical instability in children with Down’s syndrome." Pediatric Traumatology, Orthopaedics and Reconstructive Surgery 4, no. 3 (September 15, 2016): 71–77. http://dx.doi.org/10.17816/ptors4371-77.

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Introduction. Pathology of the craniovertebral zone in children with Down’s syndrome is a very important topic, because of the high risk for developing neurological complications in these patients, after even a minor trauma.Material and methods. We performed a review of the literature highlighting the disorders of the cervical spine in children with Down’s syndrome.Results. We gathered data on the etiology, pathogenesis, and clinical presentation of craniocervical instability in children with Down’s syndrome. We reviewed the existing surgical treatment options, and presented our own clinical cases. We also developed a protocol for the management of these patients.Discussions. Understanding the several forms of craniocervical instability in children with Down’s syndrome is very important. As it is a very dangerous condition that can lead to devastating neurological deficits, all medical specialties working with these patients should be aware of them. There are clinical and radiological criteria for this condition that can help in the management of such patients. Surgical treatment is an effective option, but it has a high complication rate and rarely results in neurological improvement.

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Stuart, Claire. "Estimating the number of people with Down’s syndrome in Scotland and the cohort at elevated risk of early onset dementia." Tizard Learning Disability Review 22, no. 3 (July 3, 2017): 164–71. http://dx.doi.org/10.1108/tldr-11-2016-0041.

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Purpose The purpose of this paper is to estimate the size of the population of people with Down’s syndrome in Scotland in order to provide a basis for estimating likely numbers of people with dementia in Down’s syndrome at a range of ages. Design/methodology/approach Recorded data were requested from all general practitioner (GP) services in Scotland on people with an identified READ code denoting Down’s syndrome. A statistical weighting model was then applied to account for non-response bias. Findings There were 3,261 people with Down’s syndrome estimated by the application of a statistical weighting model. Of these, 1,118 people (34 percent) were aged between 40 and 59. This age banding includes the age groups reported as having the highest incidence of early onset dementia in Down’s syndrome. Research limitations/implications It is not possible to apply a benchmark to the percentage of observed data which gives an indication of how accurate the estimates produced are. Rather, the quality of the estimates depends on the response rate itself and the extent to which response is correlated with the outcome variable. In short, the quality of the final weighted estimates depends on the extent to which the biasing effect is mitigated by the weighting. As a result, a different response rate to this survey would have resulted in variations in the weighting model and therefore provided a different set of estimates. Social implications Adults with Down’s syndrome have an elevated risk of developing dementia significantly earlier than the general population and require specific age appropriate supports and services to meet their needs both pre and post-diagnosis. The reality of this is currently not fully realized in either standard practice or national policy concerning the issue. Originality/value This is the first set of data collected from GP services in Scotland to examine this issue and attempt to identify the population of people with Down’s syndrome in Scotland as a whole.

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Abbott, Mary-Alice, and Peter Benn. "Prenatal genetic diagnosis of Down’s syndrome." Expert Review of Molecular Diagnostics 2, no. 6 (November 2002): 605–15. http://dx.doi.org/10.1586/14737159.2.6.605.

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Harshithaa, N., and G. Maragathavalli. "Case Report Down’s syndrome (Trisomy 21)." IOSR Journal of Dental and Medical Sciences 13, no. 1 (2014): 03–04. http://dx.doi.org/10.9790/0853-13170304.

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Sooben, Roja. "Breastfeeding of newborns with Down’s syndrome." Learning Disability Practice 18, no. 6 (June 29, 2015): 26–28. http://dx.doi.org/10.7748/ldp.18.6.26.e1647.

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Cebeci Ayşe, Nurcan, Güven Ayla, and Yıldız Metin. "Profile of Hypothyroidism in Down’s Syndrome." Journal of Clinical Research in Pediatric Endocrinology 5, no. 2 (May 30, 2013): 116–20. http://dx.doi.org/10.4274/jcrpe.884.

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Hontanilla Pizarro, Beatriz. "Down’s syndrome as protagonist of advertising." grafica 5, no. 10 (July 3, 2017): 85. http://dx.doi.org/10.5565/rev/grafica.83.

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Wilkinson, Rosie. "High neck injury in down’s syndrome." Nursing Standard 6, no. 28 (April 1992): 25–27. http://dx.doi.org/10.7748/ns.6.28.25.s35.

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Weeks, Daniel J., and Digby Elliott. "Atypical cerebral dominance in Down’s syndrome." Bulletin of the Psychonomic Society 30, no. 1 (July 1992): 23–25. http://dx.doi.org/10.3758/bf03330386.

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Kumar, Susheel, and Richard Jonas. "Down’s syndrome and myocardial reperfusion injury." Journal of the Saudi Heart Association 23, no. 1 (January 2011): 13–16. http://dx.doi.org/10.1016/j.jsha.2010.08.002.

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de Arruda Cardoso Smith, Marilia, and Bianca Borsatto. "Down’s syndrome, ageing and fragile sites." Mechanisms of Ageing and Development 101, no. 1-2 (March 1998): 167–73. http://dx.doi.org/10.1016/s0047-6374(97)00174-7.

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Al-Shawaf, Reema, and Wafa Al-Faleh. "Craniofacial characteristics in Saudi Down’s syndrome." King Saud University Journal of Dental Sciences 2, no. 1-2 (July 2011): 17–22. http://dx.doi.org/10.1016/j.ksujds.2010.12.001.

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Turrens, J. F. "Increased superoxide dismutase and Down’s syndrome." Medical Hypotheses 56, no. 6 (June 2001): 617–19. http://dx.doi.org/10.1054/mehy.2001.1327.

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Matsumura, Nobuhisa, Masanori Kurimoto, Shunro Endo, Osamu Fukuda, and Akira Takaku. "Intracranial Germinoma Associated with Down’s Syndrome." Pediatric Neurosurgery 29, no. 4 (1998): 199–202. http://dx.doi.org/10.1159/000028721.

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