Johansen Heidi, Østlie Kristin, Andersen Liv Øinæs, Rand-Hendriksen Svend
a TRS, National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital , Nesodden , Norway .
b Department of Physical Medicine and Rehabilitation , Innlandet Hospital Trust , Ottestad , Norway , and.
Disabil Rehabil. 2015;37(22):2076-82. doi: 10.3109/09638288.2014.998781. Epub 2015 Jan 13.
To describe an adult population with congenital limb deficiency (CLD) recruited through the National Resource Centre for Rare Disorders (TRS) in Norway: (1) demographic factors, (2) clinical features, (3) pain and (4) use of health care and welfare services.
Cross-sectional study. In 2012, a postal questionnaire was sent to 186 eligible persons with CLD, age 20 years and older.
Ninety-seven respondents, median-age 39 years (range: 20-82); 71% were women. The population was divided into two subgroups: (1) unilateral upper-limb deficiency (UULD) n = 77, (2) multiple and/or lower-limb deficiency (MLD/LLD). About 40% worked full-time, 18% received disability pensions and 64% reported chronic pain, mostly bilateral pain. Grip-improving devices were used more often than prostheses; 23% were previous prosthesis users. Use of health care and welfare services are described. No significant differences were found between the subgroups regarding pain or employment status.
Persons with CLD reported increased prevalence of chronic pain, mostly bilateral, and increased prevalence of early retirement. A greater focus on the benefits of the use of assistive devices, the consequences of overuse and vocational guidance may moderate pain and prevent early retirement. Further studies of more representative samples should be conducted to confirm our findings.
Most adults with congenital limb deficiency (CLD) live ordinary lives and experience normal life events. However, several report chronic pain and retire before normal retirement age. In spite of free and accessible prosthetic services, a large fraction chooses not to use prosthesis, more use grip-improving devices for specific activities. These preferences should be acknowledged by rehabilitation specialists. Focus on individually adapted environments, more information about the consequences of overuse, and vocational guidance may moderate pain and prevent early retirement.
描述通过挪威国家罕见病资源中心（TRS）招募的先天性肢体缺损（CLD）成年人群：（1）人口统计学因素，（2）临床特征，（3）疼痛情况，以及（4）医疗保健和福利服务的使用情况。
横断面研究。2012年，向186名年龄在20岁及以上的符合条件的CLD患者邮寄了调查问卷。
97名受访者，中位年龄39岁（范围：20 - 82岁）；71%为女性。该人群分为两个亚组：（1）单侧上肢缺损（UULD），n = 77，（2）多肢体和/或下肢缺损（MLD/LLD）。约40%的人全职工作，18%领取残疾抚恤金，64%报告有慢性疼痛，大多为双侧疼痛。抓握辅助装置的使用比假肢更频繁；23%的人曾使用过假肢。描述了医疗保健和福利服务的使用情况。两个亚组在疼痛或就业状况方面未发现显著差异。
CLD患者报告慢性疼痛的患病率增加，大多为双侧疼痛，提前退休的患病率也增加。更多地关注辅助装置使用的益处、过度使用的后果以及职业指导，可能会减轻疼痛并防止提前退休。应进行更多关于更具代表性样本的研究以证实我们的发现。
大多数先天性肢体缺损（CLD）成年人过着正常生活并经历正常的生活事件。然而，有几人报告有慢性疼痛并在正常退休年龄前退休。尽管有免费且可获得的假肢服务，但很大一部分人选择不使用假肢，更多地使用抓握辅助装置进行特定活动。康复专家应认识到这些偏好。关注个性化适应环境、更多关于过度使用后果的信息以及职业指导，可能会减轻疼痛并防止提前退休。
