Recherche concernant le Syndrome de Down (anglais)

La recherche est un domaine aride mais ô combien important pour faire avancer les choses! Je me propose de vous mettre de temps en temps quelques recherches récentes pour vous tenir au courant. Si vous n’êtes pas intéressés, n’hésitez pas à vous rendre à l’article suivant. Je ne m’en formaliserai pas, il faut de tout pour tous! 

Je vous mets quand même quelques belles bouilles pour vous attendrir….! Et parce que c’est pour eux qu’on travaille.

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TITLE: – Oxidative Stress and Memory Decline in Adults with Down Syndrome: Longitudinal Study.

AUTHORS: – Zis P; Dickinson M; Shende S; Walker Z; Strydom A

RESUMEN / SUMMARY: – By the age of 40, virtually all patients with Down syndrome (DS) have neuropathological changes characteristic of Alzheimer’s disease (AD). The aim of our study was to investigate whether the levels of superoxide dismutase enzymes (SOD), glutathione peroxidase (GPx), or their ratio could predict cognitive decline in people with DS over a 4-year period. Thirty-two adults with DS participated in a longitudinal study with SOD and GPx assays at baseline. Informants rated their functional ability and memory function at baseline and at 4 years follow-up. The more able adults with DS also completed assessments of language skills and memory, at two different time points 4 years apart. Twenty-six individuals with DS completed assessments of memory (Modified Memory Object Task, MOMT), adaptive behavior (ABAS), and receptive vocabulary (British Picture vocabulary, BPVS) at both time-points. SOD positively correlated with change on the MOMT score (r = 0.578, p = 0.015). There were no significant correlations between GPx level or SOD/GPx ratio and temporal changes in ABAS, BPVS, or MOMT scores. Our results suggest that SOD predicts memory decline over time and that these antioxidant enzymes could be a potential target for prevention of memory deterioration in adults with DS. Further research is required to test whether supplements which improve SOD function can also prevent cognitive decline. These findings may also have implications for prevention of cognitive decline in other groups which are at high risk of developing dementia, such as adults with familial AD or mild cognitive impairment.

JOURNAL: – J Alzheimers Dis. 2012 May 4.

INSTITUTION: – UCL Mental Health Sciences Unit, Charles Bell House, London, UK.


TITLE: – Polymorphisms in HSD17B1: Early Onset and Increased Risk of Alzheimer’s Disease in Women with Down Syndrome.

AUTHORS: – Lee JH; Gurney S; Pang D; Temkin A; Park N; Janicki SC; Zigman WB; Silverman W; Tycko B; Schupf N

SUMMARY: – Background/Aims. Genetic variants that affect estrogen activity may influence the risk of Alzheimer’s disease (AD). In women with Down syndrome, we examined the relation of polymorphisms in hydroxysteroid-17beta-dehydrogenase (HSD17B1) to age at onset and risk of AD. HSD17B1 encodes the enzyme 17beta-hydroxysteroid dehydrogenase (HSD1), which catalyzes the conversion of estrone to estradiol. Methods. Two hundred and thirty-eight women with DS, nondemented at baseline, 31-78 years of age, were followed at 14-18-month intervals for 4.5 years. Women were genotyped for 5 haplotype-tagging single-nucleotide polymorphisms (SNPs) in the HSD17B1 gene region, and their association with incident AD was examined. Results. Age at onset was earlier, and risk of AD was elevated from two- to threefold among women homozygous for the minor allele at 3 SNPs in intron 4 (rs676387), exon 6 (rs605059), and exon 4 in COASY (rs598126). Carriers of the haplotype TCC, based on the risk alleles for these three SNPs, had an almost twofold increased risk of developing AD (hazard ratio = 1.8, 95% CI, 1.1-3.1). Conclusion. These findings support experimental and clinical studies of the neuroprotective role of estrogen.

JOURNAL: – Curr Gerontol Geriatr Res. 2012;2012:361218. Epub 2012 Mar 4. (texte complet disponible)

INSTITUTION: – The Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University Medical Center, New York, NY 10032, USA.


TITLE: – Age-related neurodegeneration and memory loss in down syndrome.

AUTHORS: – Lockrow JP; Fortress AM; Granholm AC

SUMMARY: – Down syndrome (DS) is a condition where a complete or segmental chromosome 21 trisomy causes variable intellectual disability, and progressive memory loss and neurodegeneration with age. Many research groups have examined development of the brain in DS individuals, but studies on age-related changes should also be considered, with the increased lifespan observed in DS. DS leads to pathological hallmarks of Alzheimer’s disease (AD) by 40 or 50 years of age. Progressive age-related memory deficits occurring in both AD and in DS have been connected to degeneration of several neuronal populations, but mechanisms are not fully elucidated. Inflammation and oxidative stress are early events in DS pathology, and focusing on these pathways may lead to development of successful intervention strategies for AD associated with DS. Here we discuss recent findings and potential treatment avenues regarding development of AD neuropathology and memory loss in DS.

JOURNAL: – Curr Gerontol Geriatr Res. 2012;2012:463909. Epub 2012 Mar 20. (texte complet disponible)

INSTITUTION: – Department of Neurosciences, Medical University of South Carolina, 173 Ashley Avenue, Charleston, SC 29425, USA.


TITLE: – The Otolaryngologist’s Approach to the Patient with Down Syndrome.

AUTHORS: – Rodman R; Pine HS

SUMMARY: – As more patients with Down syndrome are living into adulthood, attention has focused on health factors that affect the quality of the patient’s life and their ability to reach full potential. Patients with Down syndrome have several morphologic abnormalities that predispose them to problems with the ear, nose, and throat, and appropriate treatment can have a significant impact on the quality of life of these patients. Otolaryngologists are likely to see many patients with Down syndrome throughout their careers. This article reviews the literature to provide information and recommendations regarding management of Down syndrome.

JOURNAL:– Otolaryngol Clin North Am. 2012 Jun;45(3):599-629. (texte complet disponible, après inscription, qui est gratuite)

INSTITUTION: – Department of Otolaryngology, University of Texas Medical Branch, 301 University Boulevard, Galveston, TX 77555, USA.


TITLE: – Self-controlled feedback enhances learning in adults with Down syndrome.

AUTHORS: – Chiviacowsky S; Wulf G; Machado C; Rydberg N

SUMMARY: – BACKGROUND: One factor that has consistently been shown to enhance learning in typical participants is self-controlled practice. OBJECTIVES: The purpose of the present study was to examine whether the learning benefits of self-controlled feedback found previously in non-disabled adults would also be found in adults with Down syndrome. METHODS: Participants with Down syndrome practiced a linear positioning task. In the self-control group, learners were provided with feedback about the movement outcome at their request. Each participant in the yoked group received the same feedback schedule as their counterpart in the self-control group. RESULTS: Learning was assessed by a retention test, consisting of 10 trials without feedback, one day later. The self-control group demonstrated more effective learning of the task than the yoked group. CONCLUSION: Self-controlled feedback enhanced motor learning in participants with Down syndrome.

JOURNAL: – Rev Bras Fisioter. 2012 Apr 12. pii: S1413-35552012005000019.

INSTITUTION: – School of Physical Education, Universidade Federal de Pelotas, Pelotas, RS, Brazil.

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