Hafeez Shaista, Singhera Mausam, Huddart Robert
The Institute of Cancer Research, 123 Old Brompton Road, London, SW7 3RP, UK.
The Royal Marsden NHS Foundation Trust, Downs Road, Sutton, Surrey, SM2 5PT, UK.
BMC Med. 2015 Jun 26;13:152. doi: 10.1186/s12916-015-0386-4.
Down syndrome is the most common chromosomal disorder in humans as well as the most common cause of inherited intellectual disability. A spectrum of physical and functional disability is associated with the syndrome as well as a predisposition to developing particular malignancies, including testicular cancers. These tumours ordinarily have a high cure rate even in widely disseminated disease. However, individuals with Down syndrome may have learning difficulties, behavioural problems, and multiple systemic complications that have the potential to make standard treatment more risky and necessitates individualized approach in order to avoid unacceptable harm. There is also suggestion that tumours may have a different natural history. Further, people with learning disabilities have often experienced poorer healthcare than the general population. In order to address these inequalities, legislation, professional bodies, and charities provide guidance; however, ultimately, consideration of the person in the context of their own psychosocial issues, comorbidities, and possible treatment strategies is vital in delivering optimal care. We aim to present a review of our own experience of delivering individualized care to this group of patients in order to close the existing health inequality gap.
唐氏综合征是人类最常见的染色体疾病,也是遗传性智力残疾的最常见原因。一系列身体和功能残疾与该综合征相关,同时还易患特定的恶性肿瘤,包括睾丸癌。即使在疾病广泛扩散的情况下,这些肿瘤通常也有很高的治愈率。然而,唐氏综合征患者可能有学习困难、行为问题以及多种全身并发症,这可能使标准治疗风险更高,因此需要采取个性化方法以避免不可接受的伤害。也有迹象表明肿瘤可能有不同的自然病程。此外,有学习障碍的人往往比普通人群获得的医疗保健更差。为了解决这些不平等问题,立法机构、专业团体和慈善机构提供了指导;然而,最终,在患者自身的心理社会问题、合并症和可能的治疗策略背景下考虑患者对于提供最佳护理至关重要。我们旨在回顾我们为这组患者提供个性化护理的经验,以缩小现有的健康不平等差距。