Tuesday, 17 January 2017

Research #1 for 2017


Gene Targets for in Utero Therapy in Down Syndrome: Potentials and Pitfalls
Jennifer Shinae Jennings and Ahmad Salehi, News-Medical, 13 january 2016
... new non-invasive prenatal testing methods ... offer an unprecedented opportunity for early treatment of brain abnormalities in DS. Currently, no therapy is available for cognitive dysfunction in DS and a recent clinical trial targeting a specific brain system in DS has not been very promising ...
Do children with Down syndrome need modified chemo for leukemia? No, says study
Vector (Boston Children's Hospital), 11 January 2016
Clinicians have long known that children with Down syndrome carry an elevated risk of developing acute lymphoblastic leukemia (ALL), the most common pediatric cancer. Research consistently shows that children with Down syndrome are more likely to suffer complications from chemotherapy. At the same time, some studies have suggested that children with Down syndrome and ALL may have a higher chance of relapsing.

What to do with this knowledge has been a source of controversy. Should patients with ALL and Down syndrome receive treatment modified to minimize toxicity from chemotherapy? Or should they be given the same treatment as other children with ALL to minimize the chance for relapse?


Research to Action Fact Sheets
NSWCID eNews, December 2016
The Centre for Applied Disability Research is making evidence about disability accessible with their research to action guides.
Current Guides:
Medical care of a child with Down syndrome probably not a financial burden for most families
Massachusetts General Hospital, 14 December 2016
The first study to analyze the out-of-pocket costs to families for the medical care of children and adolescents with Down syndrome finds that monthly costs – averaged over the first 18 years of life – are less than $100 a month more than the costs for care of a typically developing child. The report published in American Journal of Medical Genetics, Part A also finds that the additional costs are lower when the child is older ...

New Study Identifies Which Physical Features Are Best Indicators of Down Syndrome in Diverse Populations
(US) Children's National Health System, 19 December 2016
Physical features vary in patients with Down syndrome across diverse populations, according to a large international study published in the January 2017 issue of the American Journal of Medical Genetics. The study, led by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, used an objective digital facial analysis technology developed by the Sheikh Zayed Institute for Pediatric Surgical Innovation at Children’s National Health System to identify the most relevant facial features characteristic in Down syndrome in diverse populations from 12 countries. This NHGRI study is the first to compare and contrast Down syndrome across diverse populations ...
Pain and Cognitive Functioning in Adults with Down Syndrome
Nanda C. de Knegt et al, Pain Medicine, 29 Deceber 2016 (advance publication)
The aim of the present study was to examine whether cognitive functioning (i.e., memory and executive functioning) is related to self-reported presence of pain ...

Conclusions. Memory seems to be related to the self-reported presence of pain in adults with DS after explicit inquiry, although the clinical use of this model is yet limited. Therefore, further research is needed for insight into the role of cognitive processes in self-report ... to evaluate whether neuropsychological examination could contribute to pain assessment in DS.
  • The abstract is available to read online without charge. The full text of the original study report is available for purchase online.

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