Genetica Medica, Ospedale San Pietro Fatebenefratelli, Roma, Italy.
J Intellect Disabil Res. 2011 Aug;55(8):801-20. doi: 10.1111/j.1365-2788.2011.01432.x. Epub 2011 Jun 13.
Population-based surveys on the quality of life of people with Down syndrome (DS) are difficult to perform because of ethical and legal policies regarding privacy and confidential information, but they are essential for service planning. Little is known about the sample size and variability of quality of life of people with DS living in the city of Rome, which has a population of 2.7 million inhabitants. The aim of the present study is to explore the needs and challenges in health, social integration and daily life, of people with DS living in Rome.
A cross-sectional, census-based survey was conducted in 2006. All family doctors (3016 in total) of the National Health Service were involved by the Statistical Bureau of the Municipality of Rome. As per the census, every resident citizen is registered with a family doctor and every person with disabilities is coded. Associations for Down Syndrome encouraged their members to participate in the research. Questionnaires were completed by families of people with DS, in accordance with privacy laws.
An initial survey, conducted via a letter and a telephone contact with family doctors, identified 884 people with DS residing in the city of Rome. Data on the medical and social conditions of 518 people with DS, ranging in age from 0 to 64 years, were collected. Some 88% of these were living with their original family; 82.1% had one or more siblings, and 19.5% had lost one or both parents. A full 100% of children with DS were enrolled in the public school system. This ensures that they are fully occupied and entirely integrated in society. After secondary school there is a lack of opportunities. Thus, only 10% of adults were working with a regular contract. A mere 42.2% of people with DS aged 25-30 were involved in some form of regular activity (although not always on a daily basis). After the age of 30, the percentage of people demonstrating decline in function increased sharply, while disability-related support decreased. In other words, as people with DS age, daily life evolves increasingly around the home, with only occasional outdoor activities.
The health, employment and social needs of the majority of people with DS in the city of Rome are not being met. The findings of this study underscore the urgent need for more comprehensive inclusion in society of adults with DS and for the provision of support services to create an enabling environment for inclusion. Because of the variability of performance among individuals with DS, there is a need to create more case-specific options in terms of work, living arrangements, social networking and medical services. Schooling and social inclusion in childhood alone do not guarantee a satisfactory quality of life in adulthood. It is argued herewith that policy of inclusion and support should extend over the entire lifetime of people with DS.
由于涉及隐私和保密信息的伦理和法律政策，对唐氏综合征（DS）患者的生活质量进行基于人群的调查是困难的，但这对于服务规划至关重要。对于居住在拥有 270 万居民的罗马市的 DS 患者的生活质量的样本量和可变性知之甚少。本研究旨在探讨居住在罗马的 DS 患者的健康、社会融合和日常生活方面的需求和挑战。
2006 年进行了一项横断面、基于普查的调查。罗马市统计局通过该市的国家卫生服务系统中的所有家庭医生（共 3016 名）参与了该研究。根据普查，每个居民公民都与一名家庭医生登记，每个残疾人士都有编码。唐氏综合征协会鼓励其成员参与研究。家庭医生根据隐私法完成了 DS 患者家属的问卷调查。
初步调查通过给家庭医生写信和打电话进行，确定了居住在罗马市的 884 名 DS 患者。收集了 518 名年龄在 0 至 64 岁之间的 DS 患者的医疗和社会状况数据。其中 88%的人与其原生家庭一起生活；82.1%的人有一个或多个兄弟姐妹，19.5%的人失去了一个或两个父母。所有的 DS 儿童都在公立学校系统注册，这确保了他们充分的就业和完全的社会融合。中学毕业后，机会就会减少。因此，只有 10%的成年患者有一份正规合同的工作。仅有 42.2%的 25-30 岁的 DS 患者从事某种形式的定期活动（尽管并非每天都参加）。30 岁以后，功能下降的人数急剧增加，而与残疾相关的支持减少。换句话说，随着 DS 患者年龄的增长，日常生活越来越以家庭为中心，只有偶尔的户外活动。
罗马市大多数 DS 患者的健康、就业和社会需求没有得到满足。这项研究的结果强调了在社会中更全面地包容成年 DS 患者并提供支持服务以创造包容环境的迫切需要。由于 DS 患者的个体表现存在差异，因此需要根据工作、生活安排、社交网络和医疗服务方面为每个患者制定更具体的选择。仅仅在儿童时期接受教育和融入社会并不能保证成年后有令人满意的生活质量。因此，人们认为包容和支持政策应该延伸到 DS 患者的整个生命周期。
