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Children with Down syndrome Have a Bigger Risk of Developing Leukemia
The devastating news of learning that your child has Down syndrome is not just related concerns about his development or learning challenges. There are all the justifiable fears that come with learning about the medical risks associated with this extra chromosome. One of the more frightening ones is that children with Down syndrome have a 20% greater risk of developing leukemia, compared to typical children. ...Read Full Post
Source: About.com Down Syndrome - April 7, 2014 Category: Disability Source Type: news

Overlapping trisomies for human chromosome 21 orthologs produce similar effects on skull and brain morphology of Dp(16)1Yey and Ts65Dn mice
Trisomy 21 results in gene‐dosage imbalance during embryogenesis and throughout life, ultimately causing multiple anomalies that contribute to the clinical manifestations of Down syndrome. Down syndrome is associated with manifestations of variable severity (e.g., heart anomalies, reduced growth, dental anomalies, shortened life‐span). Craniofacial dysmorphology and cognitive dysfunction are consistently observed in all people with Down syndrome. Mouse models are useful for studying the effects of gene‐dosage imbalance on development. We investigated quantitative changes in the skull and brain of the Dp(16)1Yey Down ...
Source: American Journal of Medical Genetics Part A - May 1, 2014 Category: Genetics & Stem Cells Authors: John M. Starbuck, Tara Dutka, Tabetha S. Ratliff, Roger H. Reeves, Joan T. Richtsmeier Tags: Research Article Source Type: research

Down syndrome due to rare inherited 15/21 Robertsonian translocation: genetics and reproductive counselinga
This article aims to analyze the segregation and reproductive trend of a rare 15/21 translocation in five generations of a family. It was considered the current advances in reproductive technology as a possibility to prevent fetal aneuploidia. Given the genetic risk, the preimplantation diagnosis appears also as an alternative to avoid the option of an unwanted later abortion and to obtain a healthy progeny.
Source: International Medical Review on Down Syndrome - November 3, 2014 Category: Disability Source Type: research

Hypothyroidism and Down's syndrome
Conclusions The subclinical hypothyroidism that appears in early infancy in DS is usually transient. The absence of goitre and antibodies is associated with a higher spontaneous resolution rate.
Source: International Medical Review on Down Syndrome - November 3, 2014 Category: Disability Source Type: research

Skills and social interaction of children with Down's syndrome in regular education
This study identifies the process of social interaction of children with Down's syndrome (DS) in the regular educational system of a city in the interior of São Paulo, Brazil. Six children aged from three to six years old participated in the study. Each child was videotaped in four situations of social interaction in two distinct environments (indoors and outdoors), which enabled the analysis of interpersonal and self-expression skills through the observation of 15 types of behaviors. The results reveal that the behavior type “Interacts with another child”, within the category “interpersonal skills”, was the most ...
Source: International Medical Review on Down Syndrome - November 3, 2014 Category: Disability Source Type: research

Femoral neck stress fractures in a young girl with Down's syndrome
We report the case of a 5 year old girl with Down syndrome and consults because of her walking difficulty and a left groin pain of 3–4 days duration. In the history highlights the tendency of the girl to make repetitive jumps in monopodal support on the left lower extremity. Radiographic examination revealed a stress fracture of the left femoral neck. After conservative treatment the patient had a satisfactory outcome.
Source: International Medical Review on Down Syndrome - November 3, 2014 Category: Disability Source Type: research

Body mass index changes and lipid peroxidation in adults with Down's syndrome
Conclusion Although a reduction of antioxidant enzymes in severely obese adults without DS has been reported, the effect of gene dosage may be a contributing factor in reducing lipid peroxidation in obese adults with DS, without being a protective factor of its pathological consequences.
Source: International Medical Review on Down Syndrome - November 3, 2014 Category: Disability Source Type: research

Extreme malnutrition in an infant of Ethiopian origin with Down's syndrome
Publication date: May–August 2012 Source:International Medical Review on Down Syndrome, Volume 16, Issue 2 Author(s): A. Parri , H. Segurola , M. Villatoro , A. Goday , J. Parri Observation of an Ethiopian infant with Down's syndrome with severe malnutrition, and reflection on the effect that the social and health conditions in Ethiopia had on the causes leading to this extreme situation.
Source: International Medical Review on Down Syndrome - November 3, 2014 Category: Disability Source Type: research

Specific aspects of ageing in Down's syndrome
This article aims to give an updated view of ageing and end of life in people with DS, with three sections: 1. Definition of geriatric concepts, 2. Specific medical problems of ageing in SD, 3. End of life in SD. Finally, a set of guidelines for the detection of specific problems in the care of older patients with SD is proposed.
Source: International Medical Review on Down Syndrome - November 3, 2014 Category: Disability Source Type: research

Alopecia areata and Down's syndrome
Publication date: November 2011 Source:International Medical Review on Down Syndrome, Volume 15, Issue 3 Author(s): R. Alves , J. Ferrando The Down syndrome (DS) present different skin manifestations as: alopecia areata (AA), vitiligo, atopic dermatitis, pityriasis rubra pilaris, among others. AA is a chronic autoimmune inflammatory condition T-cell mediated against pilosebaceous follicle with stop of the anagen phase. AA is presented in 6–10% of patiens with DS (general population: 1.7%) and it is more frequent in women. Politherapy is more effective that monotherapy in the treatment of AA in that cases, and the progn...
Source: International Medical Review on Down Syndrome - November 3, 2014 Category: Disability Source Type: research

Discussion and review of the literature following the case of a young man with Down's syndrome and cerebral venous thrombosis
Discussion DS patients are predisposed to the occurrence of embolic stroke secondary to congenital heart disease. However, the causes of CVT in DS are uncertain, but probably have a multifactorial origin. There are to date two published cases of CVT in patients with DS.
Source: International Medical Review on Down Syndrome - November 3, 2014 Category: Disability Source Type: research

Regression in young adults with Down's syndrome. A three cases review
Publication date: September–December 2014 Source:International Medical Review on Down Syndrome, Volume 18, Issue 3 Author(s): B. Garvía , B. Benejam A deterioration in some of their cognitive functions and adaptive skills has been observed in adolescents and young adults with Down's syndrome (DS), which is similar to that observed in individuals who suffer from Alzheimer's disease, although at much earlier ages. Little is known of the etiology of these changes. In this work, 3 cases are presented on 3 young adults with DS, who presented with a deterioration in their cognitive functions and a loss of, previously well a...
Source: International Medical Review on Down Syndrome - December 27, 2014 Category: Disability Source Type: research

Nutrition assessment and indicators of visceral fat and subcutaneous fat in children with Down syndrome
Conclusions We determined a high correlation between nutritional diagnosis (BMIa and WA) with indicators of visceral fat (waist circumference) and subcutaneous (% fat mass and fat brachial area) in children with DS. A greater agreement was found between indicators of BMIa and WA suggesting that they are optimal for assessing the nutritional status.
Source: International Medical Review on Down Syndrome - June 23, 2015 Category: Disability Source Type: research

Pulmonary function in young adults with Down syndrome: A cross-sectional study
Conclusion Young adults with DS showed reduced pulmonary function in comparison to age-matched controls. Additionally, the pulmonary function was inversely correlated with body mass index.
Source: International Medical Review on Down Syndrome - July 18, 2015 Category: Disability Source Type: research

Comparative study of plantar footprints in youth with Down syndrome
Conclusions Young people with DS had a higher percentage of pronation and a lower percentage of cavus foot than the control group.
Source: International Medical Review on Down Syndrome - October 9, 2015 Category: Disability Source Type: research