Fifteen-minute consultation: The review of a child with trisomy 21 (Down’s syndrome)

2021 ◽  
pp. edpract-2020-319814 ◽  
Author(s):  
Rebecca Amy Dalrymple ◽  
Laura Helen Somerville ◽  
Sherin Hamza ◽  
Nashwa Matta
Keyword(s):  
Intellectual Disability ◽  
Chromosomal Abnormality ◽  
Trisomy 21 ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Many Body ◽  
Life Threatening ◽  
Many Body Systems

Down’s syndrome (DS) is the most common chromosomal abnormality seen in live born children and it is the most common genetic cause of intellectual disability. It is associated with abnormalities in many body systems, some of which can cause life threatening complications. This article aims to cover the important aspects to cover when seeing children with DS for their routine follow-up in the neurodevelopmental or general paediatric clinic.

scholarly journals Síndrome de Down e patologias associadas: uma revisão narrativa da literatura

2021 ◽  
pp. 493-500
Author(s):  
Tatiana Batista Sanchez Alvarez ◽  
Dionasson Altivo Marques
Keyword(s):  
Intellectual Disability ◽  
Trisomy 21 ◽  
Allied Health ◽  
Down's Syndrome ◽  
Clinical Manifestations ◽  
Down’S Syndrome ◽  
Cumulative Index ◽  
Health Literature

Objetivo: identificar por meio de uma revisão narrativa de literatura as patologias mais recorrentes em indivíduos com Síndrome de Down. Método: trata-se de uma revisão narrativa. Realizou-se um levantamento da literatura no Portal Pubmed e nas bases de dados de publicações científicas indexadas: Scientific Eletronic Library Online (Scielo), Literatura Latino-Americana e do Caribe em Ciências da Saúde (LILACS), Base de Dados de Enfermagem (BDENF) e Cumulative Index to Nursing and Allied Health Literature (CINAHL) e Portal PubMed, usando os descritores “Down's syndrome”, “Pathologies”, “Trisomy 21”, “Intellectual Disability”, “Clinical manifestations”. Resultados: foram encontrados 696 artigos, dos quais 24 foram analisados na íntegra, destes, foram selecionados 9 artigos que compuseram a amostra desta revisão. A maioria dos estudos selecionados mensurou as características fenotípicas peculiares nos indivíduos com essa anomalia, a saber: olhos oblíquos, orelhas baixas, braquidactilia, hipotonia, baixa estatura, braquicefalia, fissuras oblíquas na pálpebra, epicanto, manchas de Brushfield na íris, dentre outras. Conclusão: torna-se necessária uma atenção e acompanhamento regular dos profissionais de saúde acerca das patologias malignas, doenças autoimunes e inflamatórias que acometem as pessoas com SD.

scholarly journals Effects of Early Thyroxine Treatment on Development and Growth at Age 10.7 Years: Follow-Up of a Randomized Placebo-Controlled Trial in Children With Down's Syndrome

2014 ◽  
Vol 99 (12) ◽  
pp. E2722-E2729 ◽  
Author(s):  
Jan Pieter Marchal ◽  
Heleen Maurice-Stam ◽  
Nadine A. Ikelaar ◽  
Femke C. C. Klouwer ◽  
Kim W. J. Verhorstert ◽  
...  
Keyword(s):  
Controlled Trial ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Thyroxine Treatment

Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome)

1995 ◽  
Vol 59 (3) ◽  
pp. 253-269 ◽  
Author(s):  
G. E. DAVIES ◽  
C. M. HOWARD ◽  
M. J. FARRER ◽  
M. M. COLEMAN ◽  
L. B. BENNETT ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Congenital Heart Defects ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Heart Defects ◽  
Down's Syndrome ◽  
Down’S Syndrome

Comparison of Two Scales for Assessing Motor Development in Infants with down's Syndrome

1983 ◽  
Vol 3 (4) ◽  
pp. 213-221 ◽  
Author(s):  
Joan Snyder Lydic ◽  
Margaret A. Short ◽  
David L. Nelson
Keyword(s):  
Motor Development ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Motor Ability ◽  
Before And After ◽  
Partial Correlations ◽  
Depth Study ◽  
Movement Assessment ◽  
Stability Results

The Peabody Developmental Scales (PDS) and the Movement Assessment of Infants (MAI) were examined for their abilities to detect subtle changes in motor development of infants with Down's syndrome Both assessments were administered to 10 infants before and after a 6-week period A t-test suggested that the MAI was sensitive to developmental changes in the subjects tested from initial test to follow-up. Similar testing using the PDS did not reveal significant differences in the scores, suggesting that the MAI was the more sensitive of the two instruments. When partial correlations were calculated for possible artifactual effects due to age, the MAI still demonstrated greater stability. Results indicate that, for infants with Down's syndrome, the MAI may be preferable to the PDS for detecting changes in motor ability over short periods. However, these results should be considered tentative until a more in-depth study is conducted using a larger number of subjects from a variety of clinical populations.

scholarly journals Diet quality and well-being in children and adolescents: the UP&DOWN longitudinal study

2018 ◽  
Vol 121 (2) ◽  
pp. 221-231 ◽  
Author(s):  
Laura Esteban-Gonzalo ◽  
Anne I. Turner ◽  
Susan J. Torres ◽  
Irene Esteban-Cornejo ◽  
José Castro-Piñero ◽  
...  
Keyword(s):  
Secondary School ◽  
Negative Affect ◽  
Primary School ◽  
Positive Affect ◽  
Children And Adolescents ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Well Being ◽  
School Girls

AbstractThe present study examined the association between high-quality diet (using the Mediterranean diet (MD) as an example) and well-being cross-sectionally and prospectively in Spanish children and adolescents. Participants included 533 children and 987 adolescents at baseline and 527 children and 798 adolescents at 2-year follow-up, included in the UP&DOWN study (follow-up in schoolchildren and adolescents with and without Down’s syndrome). The present study excluded participants with Down’s syndrome. Adherence to an MD was assessed using the KIDMED index. Well-being was measured using the Positive and Negative Affect Schedule and the KIDSCREEN-10 questionnaire. Associations between MD adherence and well-being were assessed using multi-level, mixed-effects linear regression. At baseline, MD adherence was positively related to health-related quality of life in secondary school girls and boys (β=0·41,se0·10,P<0·001;β=0·46,se0·10,P<0·001, respectively) and to positive affect in secondary school girls and boys (β=0·16,se0·05,P=0·006;β=0·20,se0·05,P<0·001, respectively) and in primary school boys (β=0·20,se0·08,P=0·019). At 2-year follow-up, MD adherence was negatively related to negative affect in secondary school adolescent girls and boys (β=–0·15,se0·07,P=0·047;β=–0·16,se0·06,P=0·019, respectively), and MD adherence was associated with higher positive affect scores in secondary school girls (β=0·30,se0·06,P<0·001) and in primary school boys (β=0·20,se0·09,P=0·023). However, MD adherence at baseline did not predict well-being indicators at 2-year follow-up. In conclusion, higher MD adherence was found to behave as a protective factor for positive well-being in cross-sectional analysis.

Trisomy 21 in One of Twin Fetuses

PEDIATRICS ◽  
1978 ◽  
Vol 62 (1) ◽  
pp. 52-53
Author(s):  
Richard H. Heller ◽  
Lee S. Palmer
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Healthy Infant ◽  
The Other ◽  
Technical Problems ◽  
The Family ◽  
Successful Execution

Both the detection of twins and the successful execution of a double amniocentesis pose significant technical problems in prenatal diagnosis. A case is reported in which one of twin fetuses had trisomy 21 and the other was chromosomally normal. Following counseling, the family chose to continue the pregnancy. At term, the mother was delivered of a healthy infant and a severely macerated fetus with stigmata suggestive of Down's syndrome.

Cast aside

2021 ◽  
pp. 191-196
Author(s):  
Michael Obladen
Keyword(s):  
Trisomy 21 ◽  
Homo Sapiens ◽  
Down's Syndrome ◽  
Scientific Progress ◽  
Down’S Syndrome ◽  
Chromosomal Anomalies ◽  
Additional Chromosome ◽  
Ethnic Classification ◽  
The Right ◽  
Invasive Techniques

Trisomy 21 originated with Homo sapiens, or even before, as it exists in other primates. However, in antiquity, Down’s syndrome was rare: mothers were younger, and children failed to reach adulthood. For centuries, trisomy 21 and hypothyreosis were confused. Scientific reports originated from asylums for the mentally retarded. In 1866, John Langdon Down at Earlswood published a description of symptoms in his ‘Ethnic classification of idiots’ and coined the term ‘Mongolian’. Jerôme Lejeune identified an additional chromosome 21 causing the disorder. Maternal age rose markedly for various reasons, as did the prevalence of trisomy 21. From 1968, high-risk pregnancies were screened and interrupted because of Down’s syndrome. Non-invasive techniques now enable all pregnancies to be screened to detect chromosomal anomalies early and precisely. The topic is hotly debated and consensus unlikely. Legislation will not halt scientific progress, but it should ensure that in the same society contradictory attitudes can be held and mutually respected: the right to accept a disabled infant and the right not to accept it.

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