Unit of Epidemiology, Department of Medical Directorate, Bambino Gesù Children's Hospital, Rome, Italy.
J Dev Behav Pediatr. 2012 Apr;33(3):229-35. doi: 10.1097/DBP.0b013e3182460d8a.
To explore the experiences of patients affected by phenylketonuria, a genetic metabolic disease currently screened during the neonatal period, in whom treatment was begun shortly after birth. Dietary treatment of the metabolic abnormality can prevent effects on the central nervous system through infancy, adolescence, and adulthood, but the associated challenges for personal and social life, such as everyday problems of adherence to a strict regimen, have been inadequately studied.
A qualitative study was performed using semistructured interviews involving 20 patients aged between 8 and 23 years and referred to a pediatric hospital for phenylketonuria. A thematic framework was formulated in advance which identified the main issues to be investigated, and a list of questions was devised. The interviews were audiotaped and were all transcribed and analyzed by 3 investigators with the support of NVivo software.
Patients showed a fair knowledge of their condition but did not feel that they were truly ill. However, they adhered to their treatment regimen although they perceived no direct, immediate, adverse effects of their disease. A long-standing habit of following a demanding diet from infancy emerged from the interviews. A major problem for these patients is the difference perceived when comparing themselves with their peers, and the fear of stigmatization can prevent patients from participating in social occasions during which food is shared. One coping strategy patients may use is to disclose their condition to peers to overcome isolation.
The impact of long-standing, demanding health behaviors on the social life of patients affected by a chronic metabolic disease must be recognized, taking into particular consideration both social functioning and adherence to dietary treatment.
探索苯丙酮尿症（PKU）患者的患病体验，PKU 是一种目前在新生儿期进行筛查的遗传性代谢疾病，患者在出生后不久即开始接受治疗。通过婴儿期、青春期和成年期的饮食治疗可以预防代谢异常对中枢神经系统的影响，但个人和社会生活中相关的挑战，如坚持严格饮食方案的日常问题，尚未得到充分研究。
采用半结构式访谈对 20 名年龄在 8 至 23 岁之间、被转诊至儿科医院接受 PKU 治疗的患者进行定性研究。预先制定了一个主题框架，确定了需要调查的主要问题，并设计了一份问题清单。对访谈进行录音，并由 3 名研究人员使用 NVivo 软件进行转录和分析。
患者对自身病情有一定了解，但并不认为自己真正患病。尽管他们没有察觉到疾病的直接、即时的不良影响，但仍坚持治疗方案。从访谈中可以看出，他们从婴儿期开始就养成了长期坚持严格饮食的习惯。这些患者的一个主要问题是，他们在与同龄人比较时感受到的差异，以及对污名化的恐惧，这可能会阻止他们参加需要分享食物的社交场合。患者可能使用的一种应对策略是向同龄人透露自己的病情，以克服孤立感。
必须认识到长期严格的健康行为对慢性代谢疾病患者社会生活的影响，尤其要考虑到社会功能和饮食治疗的依从性。
