Glick Norris R, Fischer Milton H
Department of Pediatrics, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA.
Nutr Metab Insights. 2017 Jun 28;10:1178638817716457. doi: 10.1177/1178638817716457. eCollection 2017.
People with profound developmental disabilities have some of the most severe neurological impairments seen in society, have accelerated mortality due to huge medical challenges, and yet are often excluded from scientific studies. They actually have at least 2 layers of conditions: (1) the original disability and (2) multiple under-recognized and underexplored metabolic and nutritional imbalances involving minerals (calcium, zinc, and selenium), amino acids (taurine, tryptophan), fatty acids (linoleic acid, docosahexaenoic acid, arachidonic acid, adrenic acid, Mead acid, plasmalogens), carnitine, hormones (insulinlike growth factor 1), measures of oxidative stress, and likely other substances and systems.
This review provides the first list of metabolic and nutritional abnormalities commonly found in people with profound developmental disabilities and, based on the quality of life effects of similar abnormalities in neurotypical people, indicates the potential effects of these abnormalities in this population which often cannot communicate symptoms.
We propose that improved understanding and management of these disturbed mechanisms would enhance the quality of life of people with profound developmental disabilities. Such insights may also apply to people with other conditions associated with disability, including some diseases requiring stem cell implantation and living in microgravity.
重度发育障碍患者存在一些社会中最严重的神经损伤，由于巨大的医疗挑战，其死亡率加速上升，但他们往往被排除在科学研究之外。他们实际上至少有两层病症：（1）原发性残疾；（2）多种未被充分认识和探索的代谢及营养失衡，涉及矿物质（钙、锌和硒）、氨基酸（牛磺酸、色氨酸）、脂肪酸（亚油酸、二十二碳六烯酸、花生四烯酸、肾上腺酸、莫拉德酸、缩醛磷脂）、肉碱、激素（胰岛素样生长因子1）、氧化应激指标，以及可能的其他物质和系统。
本综述首次列出了重度发育障碍患者中常见的代谢和营养异常情况，并根据神经正常人群中类似异常对生活质量的影响，指出了这些异常对该通常无法表达症状人群的潜在影响。
我们认为，更好地理解和管理这些紊乱机制将提高重度发育障碍患者的生活质量。这些见解也可能适用于其他伴有残疾的人群，包括一些需要干细胞植入和生活在微重力环境中的疾病患者。
