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Aging in Rare Intellectual Disability Syndromes

机译:罕见的智力残疾综合症的衰老

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This review highlights several methodological challenges involved in research on aging, health, and mortality in adults with rare intellectual disability syndromes. Few studies have been performed in this area, with research obstacles that include: the ascertainment of older adults with genetic versus clinical diagnoses; likelihood that adults will not receive adequate health care and referrals to genetic specialists; cohort differences related to generational and treatment effects; and increased mortality and selective survival biases. Even so, aging in Prader-Willi and Williams syndromes are reviewed as they reveal new insights into the phenotypic expression and treatment options for older adults with these disorders. The review ends with recommendations for future research that takes better advantage of genetic advances, changes in adult phenotypes, and ties across syndrome-specific research silos. Although aging in rare neurodeve-lopmental disorders is barely on the research landscape, the field stands to learn much from these older adults.
机译:这篇综述重点介绍了患有罕见智力障碍综合症的成年人的年龄,健康和死亡率研究中涉及的几种方法学挑战。在这一领域进行的研究很少,其研究障碍包括:通过基因诊断与临床诊断确定老年人;成人无法获得足够的医疗保健并转介给遗传专家的可能性;与世代和治疗效果有关的队列差异;并增加死亡率和选择性生存偏见。即便如此,Prader-Willi和Williams综合征的衰老也得到了回顾,因为它们揭示了对患有这些疾病的老年人的表型表达和治疗选择的新见解。审查最后提出了对未来研究的建议,这些建议可以更好地利用遗传学进展,成人表型的变化以及特定于综合征的研究孤岛之间的联系。尽管在罕见的神经发育性失调性疾病中衰老几乎没有出现在研究领域,但该领域可以从这些老年人身上学到很多东西。

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