scholarly journals Attitude, knowledge and informed choice towards prenatal screening for Down Syndrome: a cross-sectional study

2018 ◽  
Vol 18 (1) ◽  
Author(s):  
Melania Elena Pop-Tudose ◽  
Dana Popescu-Spineni ◽  
Petru Armean ◽  
Ioan Victor Pop
Author(s):  
Raphaele Tsao ◽  
Cecile Kindelberger ◽  
Benedicte Fréminville ◽  
Renaud Touraine ◽  
Gerald Bussy

Abstract The aim of this cross-sectional study was to analyze the typical aging process in adults with Down syndrome, focusing on its variability. The sample comprised 120 adults with Down syndrome who were free of dementia. Ages ranged from 20 to 69 years. Each participant was assessed on cognitive functioning and social adaptation, and was checked for the presence of psychopathological disorders. Results revealed an age-related deterioration in both cognitive and social adaptation skills, the extent of this decline depending on the dimension under scrutiny, and interindividual variability in aging profiles.


2013 ◽  
Vol 13 (1) ◽  
Author(s):  
Ángel Matute-Llorente ◽  
Alejandro González-Agüero ◽  
Alba Gómez-Cabello ◽  
Germán Vicente-Rodríguez ◽  
José Antonio Casajús

2016 ◽  
Vol 20 (2) ◽  
pp. 17-20 ◽  
Author(s):  
C. Salgueirinho ◽  
J. Venâncio ◽  
A.M. Martín-Nogueras ◽  
F. Ribeiro

2016 ◽  
Vol 19 (1) ◽  
pp. 32-37
Author(s):  
Ameta Primasari ◽  
Ellin Faradina

Down syndrome merupakan abnormalitas kromosom (trisomi 21) yang paling sering terjadi dalam kelahiran hidup. Perbedaan yang paling khas adalah manifestasi kraniofasial. Pada penderitanya pengukuran antropometri dilakukan untuk melihat pertumbuhan anak Down syndrome agar dapat menyesuaikan perawatan yang diperlukan. Tujuan penelitian adalah untuk mengetahui ukuran rata-rata kraniofasial berdasarkan panjang kepala, lebar kepala, tinggi wajah dan lingkar kepala pada penderita Down syndrome di UPT. SLB-E Negeri Pembina Sumatera Utara. Jenis Penelitian adalah deskriptif dengan rancangan cross sectional study. Sampel penelitian 23 orang yang sudah ditentukan berdasarkan kriteria inklusi dan eksklusi. Pengukuran dilakukan dengan menghitung panjang kepala, lebar kepala, tinggi wajah dengan menggunakan kaliper dan penggaris sedangkan lingkar kepala diukur menggunakan pita meteran. Data dianalisis menggunakan uji Oneway Anova. Hasil penelitian menunjukkan, bahwa tidak terdapat perbedaan yang signifikan pada lebar kepala (p=0,056) dan tinggi wajah (p=0,572) antara kelompok usia. Namun demikian, ada penambahan ukuran panjang kepala, lebar kepala, tinggi wajah dan lingkar kepala pada penderita Down syndrome seiring dengan bertambahnya usia Sebagai kesimpulan, penelitian ini menunjukkan terdapat perbedaan yang signifikan pada panjang kepala (p≤0,029) dan lingkar kepala (p≤0,02) antara kelompok usia.


2021 ◽  
Vol 31 (2) ◽  
pp. 247-256
Author(s):  
Camila Valero ◽  
Zan Mustacchi ◽  
Patricia Melo Bezerra ◽  
Francisco Winter Dos Santos Figueiredo ◽  
Alzira Alves de Siqueira Carvalho ◽  
...  

Introduction: Down syndrome individuals have different gait patterns, which include specific characteristics such as foot rotation asymmetry. Objective: The aim of this study was to analyze the relationship between this asymmetry and the previous acquisition of hands-and-knees crawling in Down syndrome children, as well as the probable association of this gait to gender, ethnicity, comorbidities, physiotherapy, and occupational therapy interventions. Methods: In this cross-sectional study, 361 children with or without foot rotation asymmetry were selected. An online questionnaire was administered to the parents or guardians of those children. Results: Hands-and-knees crawling decreased the prevalence of foot rotation asymmetry in Down syndrome children. The longer it took for walking onset, the higher the prevalence of this asymmetry. Indeed, for each month of delay there was a 7% increase in prevalence. There was a significant relationship between orthopedic alterations in knees or flat feet and foot rotation asymmetry. There was no significance related to gender, ethnicity, other comorbidities, physiotherapy or occupational therapy interventions. Conclusion: The findings in this study revealed that foot rotation asymmetry may be related to the acquisition of the motor skills described above, especially with regards to hands-and-knees crawling and walking onset.


2021 ◽  
Vol 15 (10) ◽  
pp. 2582-2583
Author(s):  
Sana Pervez ◽  
Syed Sajid Munir ◽  
Maimoona Saeed

Aim: Incidence of celiac disease among children with down’s syndrome Setting: Pediatrics department, Khyber Teaching Hospital, Peshawar Study design: Cross sectional study Study duration: 20/7/2019 to 20/1/2020 Methodology: A total of 241 subjects were selected. Five ml of venous blood was obtained from all patients to detect the Anti-tTG Ab. Among those patients who are positive for the antibody, endoscopy and biopsy specimen from duodenum were sent to hospital laboratory to confirm the presence of villus atrophy. Results: Mean age was 8 ± 4.57. 44% children were male and 56% children were female. More over 4% children had celiac disease and 96% children didn’t have celiac disease. Conclusion: The frequency of celiac disease was 4% among children presenting with Down syndrome. Keywords: Celiac disease, Down’s syndrome.


2021 ◽  
Vol 8 (02) ◽  
pp. 75-79
Author(s):  
Sujatha Nambudiri ◽  
Sinumol Sukumaran Thulaseedharan ◽  
Seena T.V

BACKGROUND Down syndrome, first described in 1866, is the most common chromosomal derangement in live births. More than half of the patients with Down syndrome have ophthalmic manifestations. We wanted to evaluate the most common ocular abnormalities in children with Down syndrome in South India. METHODS All children with positive chromosomal analysis report for Down syndrome between 2 - 18 years attending a semi-urban, tertiary medical care centre from 1/1/2013 to 1/1/2015 were included in this hospital based clinical cross sectional study. Detailed ocular examination included visual acuity assessment using age specific tests, diffuse light examination, assessment of ocular alignment, motility, cover tests, slit-lamp biomicroscopy, cycloplegic refraction and direct and indirect ophthalmoscopy. RESULTS In our study, 95 % of children had ocular abnormalities. The most important defects were refractive errors (83.33 %), hyperopia (35 %), myopia 21 % of whom 2 children had high myopia of more than - 6D, and astigmatism (15 %). Among the refractive errors, hyperopia was the commonest. Other ocular abnormalities were cataract (13.33 %), esotropia (13.33 %), exotropia (3.33 %), nystagmus (6.67 %), nasolacrimal duct obstruction (8.3 %) and optic disc coloboma (1.6 %). CONCLUSIONS Refractive errors, strabismus were the most common and significant visual defects identified in children with Down syndrome in our study. Early detection of refractive errors, strabismus and prompt and appropriate intervention like glasses for refractive errors and surgical correction of strabismus is absolutely necessary to prevent development of amblyopia. Improvement of vision accelerates the overall development of the child. Management of Down syndrome children should be a team approach with ophthalmologist playing an important role. These children should have early and regular ophthalmological evaluations to maximise the benefit. KEYWORDS Down Syndrome, Ocular Abnormalities, Visual Acuity in Children


Author(s):  
Aryvelto Miranda Silva ◽  
Básia Rabelo Nogueira ◽  
Thalles Anthony Chaves Leal ◽  
Raimundo Rosendo Prado Júnior ◽  
Regina Ferraz Mendes

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