TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesoddtangen 1450, Norway.
Health Qual Life Outcomes. 2013 Sep 8;11:152. doi: 10.1186/1477-7525-11-152.
To examine children's health-related quality of life and parents' satisfaction with life and explore the association between the two in families where a child has a rare disorder.
We used a cross-sectional study design. A questionnaire was sent to parents of 439 school children (6-18 years) with congenital rare disorders. Children's health-related quality of life (HRQOL) was examined by Pediatric Quality of Life InventoryTM 4.0 (PedsQL) Norwegian version. Satisfaction with life was examined by Satisfaction with Life Scale (SWLS).
The response rate was 48% (n = 209). The average age of the children was 12 years and 50% were girls. The parents scored their children with reduced physical, emotional, social and school functioning. The reductions were greatest in the physical area. Parents scored average to high on SWLS but significantly lower than the general Norwegian population. There was a positive association between parental SWLS and the children's social functioning and school functioning.
Children with congenital, rare disorders often require assistance from many parts of the public service system. Caring for their physical needs should not conflict with their educational and social needs. It is important that the children's school-life is organized so that the diagnosis does not interfere with the children's education and social life more than necessary.
调查患有罕见疾病儿童的健康相关生活质量和父母的生活满意度，并探讨这两者在有患病儿童的家庭之间的关联。
我们采用了横断面研究设计。向 439 名患有先天性罕见疾病的学龄儿童（6-18 岁）的家长发送了一份问卷。采用儿科生活质量问卷 4.0（PedsQL）挪威语版评估儿童的健康相关生活质量（HRQOL）。采用生活满意度量表（SWLS）评估生活满意度。
回复率为 48%（n=209）。儿童的平均年龄为 12 岁，其中 50%为女孩。父母对孩子的身体、情感、社交和学校功能评分较低。在身体方面的下降最为明显。父母在 SWLS 上的评分平均处于中上水平，但明显低于挪威一般人群。父母的 SWLS 与孩子的社交功能和学校功能呈正相关。
患有先天性罕见疾病的儿童通常需要公共服务系统的多个部门提供帮助。照顾他们的身体需求不应与他们的教育和社交需求发生冲突。重要的是，应组织好孩子的学校生活，以便诊断不会对孩子的教育和社交生活造成不必要的干扰。
