Clinical aspects of down syndrome from infancy to adulthood

Pueschel, Siegfried M.

doi:10.1002/ajmg.1320370708

Cited by 87 publications

(62 citation statements)

References 12 publications

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“…No Brasil, observa-se escassez de dados relacionados às cardiopatias congênitas dos pacientes com síndrome de Down 8,24 , situação esta de alta prevalência, visto que vários pacientes consultam tardiamente, muitas vezes impossibilitando a realização de correção cirúrgica e, consequentemente, aumentando morbidade e mortalidade 7,15,25,26 .…”

Section: Introductionunclassified

Prevalence of congenital heart defects in carriers of Down syndrome in the municipality of Pelotas, Brazil

2009

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Objective: To determine the prevalence of congenital heart defects in patients with Down syndrome in the municipality of Pelotas, Brazil, describing the most frequent types and assessing the associated factors.Methods: Cross-sectional study including children with Down syndrome who were born and lived in Pelotas from January 2000 to December 2005. Data were collected by means of home interviews with mothers or guardians. Univariate and bivariate analyses were carried out to analyze the factors related to congenital heart defect.Results: Forty-seven mothers of patients with Down syndrome were interviewed. Twenty-two (46.8%) of the patients had a diagnosis of congenital heart defect. Of them, 28% had early cardiac evaluation before 3 months of life. The most frequent heart defect was interatrial communication (17%); atrioventricular septal defect affected five patients. Bivariate analysis between the outcome congenital heart defect and the predicting factors maternal age, paternal age, parents' and child's skin color, presence of other malformations and child's sex showed that the associations were not statistically significant. Conclusions:The prevalence of Down syndrome and congenital heart defects in our region is similar to the rates found by other authors; therefore, we highlight the importance of diagnostic suspicion and early referral by pediatricians to cardiac evaluation. Another relevant aspect is the small number of patients who underwent karyotype testing. In addition, the number of associated malformations was lower than that found by other authors. Conclusões: As prevalências de síndrome de Down e de cardiopatia congênita em nossa região apresentam-se semelhantes às encontradas por outros autores, ressaltando-se a importância da suspeita diagnóstica e do encaminhamento precoce por parte dos pediatras para avaliação cardiológica. Destaca-se também o baixo número de pacientes que realizaram cariótipo. Além disso, o número de malformações associadas foi inferior ao encontrado por outros autores. J Pediatr (Rio J) J Pediatr (Rio J)

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Section: Introductionunclassified

Prevalence of congenital heart defects in carriers of Down syndrome in the municipality of Pelotas, Brazil

2009

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“…Treatment of the gingival condition is in accordance with general principles but must be of a simple type. The possibility of the development of leukemia should be borne in mind [47].…”

Section: Intellectual Disability/behavioral Concernsmentioning

confidence: 99%

Dental Concerns of Children with Down’s Syndrome - An Overview

Nirmala¹,

Degala²

2017

JPNC

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Down's syndrome is a condition known to be associated with a chromosomal abnormality. This is usually in the form of three in place of a pair of chromosomes 21, hence the name 'trisomy 21' the incidence of Down's syndrome in the population has been variably estimated between 1 and 4 per 1000 and which occurs in all races. These children are mentally retarded to some degree, they are generally smaller than average in height for their age, Midface dysplasia, flat broad bridge of the nose, "lop" ears, epicanthal folds with slanting almond-shaped eyes which was responsible for the term mongoloid. The majority of the children exhibit brachycephaly (broad, short head) and lack of supraorbital ridges and hypotelerism, Absence of frontal sinuses and absent or reduced maxillary sinuses, nasal septum or nasal conchl deviations are often observed which can produce a partially obstructed or narrow air passage and can contribute to the problem of mouth breathing, prone to infections especially upper respiratory tract infections. They have congenitally missing lateral incisors, the morphology of the teeth may also be affected. Teeth are smaller than normal, peg shaped and tend to be rounded or bulbous, roots of the incisors are short and most of the children are having tongue thrusting habit with lack of lip seal and high frenal attachment. They have a remarkable resistance to dental caries and at least half of them are caries free, preventive procedures along with chlorhexidine mouth wash may be beneficial and they suffer from a moderate to severe degree of periodontal disease. Down's syndrome children with congenital heart disease extractions and deep scaling should be done under antibiotic coverage and pulp treatment in primary teeth is contraindicated in patients with cardiac problems because of the risk of bacteremia whereas in permanent teeth it can be considered if an adequate apical seal can be obtained. Both orthodontic and prosthodontics appliances are usually contraindicated. Nitrous oxide analgesia or Tell show do in mildly apprehensive patients can be used, general anesthesia in severe resistance to dental treatment. This article discusses about etiological factors, clinical features and management aspects.

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“…De acordo com Pueschel (1990), estão descritas mais de 80 características clínicas em indivíduos com síndroma de Down, sendo uma das mais comuns as cardiomiopatias, que terão consequências no nível de aptidão física. Outras características descritas como hipotonicidade muscular, hiperlaxidez ligamentar, tendência para peso acima da média, dificuldades respiratórias, baixa estatura também têm repercussões ao nível do desempenho no exercício físico (ONYEWADUME, 2006;PITETTI, RIRNMER, & FERNHALL, 1993) assim como instabilidade atlantoaxial, problemas ortopédicos, dificuldades no equilíbrio estático e dinâmico e na coordenação (SHERRILL, 2004;WINNICK, 2011).…”

Section: Introductionunclassified

Aferição Da Aptidão Física Em Jovens Com Síndroma De Down

Campos

Ferreira²

2017

RDE

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RESUMO:A avaliação da aptidão física de jovens com síndroma de Down é de extrema importância uma vez que tem repercussões não apenas no desempenho nas aulas de Educação Física, mas também na realização das atividades da vida diária. Assim, o objetivo do presente estudo é demonstrar a aferição da aptidão física de alunos com síndroma de Down. A amostra foi constituída por 9 jovens com síndroma de Down, praticantes de basquetebol, com idades entre os 12 e os 20 anos. Os resultados revelam que os participantes apresentam baixo nível de aptidão física. Considera-se pertinente o desenvolvimento de programas de atividade física regular adaptados com o intuito melhorar a aptidão física dos jovens com síndroma de Down.Palavras-chave: Aptidão Física. Jovens. Síndroma de Down. PHYSICAL FITNESS ASSESSMENT IN YOUNGSTERS WITH DOWN SYNDROME ABSTRACT:The assessment of physical fitness of young people with Down syndrome is extremely important as it has repercussions not only on the performance in physical education classes but also in carrying out the daily life activities. Therefore, the aim of this study is to assess the level of physical fitness of youngsters with Down syndrome. Participants were nine youngsters with Down syndrome, basketball players, aged between 12 and 20 years. Results show that participants present low level of physical fitness. It is considered appropriate the development of adapted physical activity programs in order to improve the physical fitness of youngsters with Down's syndrome.

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Clinical aspects of down syndrome from infancy to adulthood

Cited by 87 publications

References 12 publications

Prevalence of congenital heart defects in carriers of Down syndrome in the municipality of Pelotas, Brazil

Prevalence of congenital heart defects in carriers of Down syndrome in the municipality of Pelotas, Brazil

Dental Concerns of Children with Down’s Syndrome - An Overview

Aferição Da Aptidão Física Em Jovens Com Síndroma De Down

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