Tosco Antonella, Marino Diletta, Polizzi Sara, Tradati Valentina, Padoan Rita, Giust Claudia, Fabrizzi Benedetta, Taccetti Giovanni, Merli Lucia, Terlizzi Vito
Paediatric Unit, Cystic Fibrosis Regional Reference Center, Department of Translational Medical Sciences, University of Naples Federico II, 80131 Naples, Italy.
Freelance Psychologist, 50139 Florence, Italy.
Children (Basel). 2023 Jan 18;10(2):177. doi: 10.3390/children10020177.
An inconclusive diagnosis of cystic fibrosis (CF) after positive newborn screening (NBS) may cause parental distress. We compared the psychological impact of CF transmembrane conductance regulator-related metabolic syndrome (CRMS)/CF screen-positive, inconclusive diagnosis (CFSPID), and clear CF diagnosis, on parents.
The participants were administered the Generalized Anxiety Disorder Scale, Patient Health Questionnaire-9, and the Italian version of the Impact of Event Scale-Revised as quantitative tools and semi-structured interviews as qualitative tools. Parental experience, child representation, relationships, future information, and perception of health status were investigated. Interviews were recorded and transcribed verbatim maintaining anonymity.
Thirty-two families were enrolled: sixteen with CF and CRMS/CFSPID, respectively. Anxiety and depression values were high in both groups, as were the measurement of traumatic impact subscales: avoidance, intrusiveness, and hyperarousal. The children's health was evaluated by respective parents as being nearly healthy.
Our results highlight negative psychological impacts, including emotional and affective representations, on parents of children with inconclusive CF diagnosis compared with those with clear diagnosis.
新生儿筛查（NBS）呈阳性后囊性纤维化（CF）诊断不确定可能会使父母感到痛苦。我们比较了CF跨膜传导调节因子相关代谢综合征（CRMS）/CF筛查阳性但诊断不确定（CFSPID）以及明确CF诊断对父母的心理影响。
使用广泛性焦虑障碍量表、患者健康问卷-9以及意大利版事件影响量表修订版作为定量工具，半结构化访谈作为定性工具对参与者进行评估。调查父母的经历、对孩子的认知、人际关系、未来信息以及对健康状况的看法。访谈进行录音并逐字转录，同时保持匿名。
共招募了32个家庭：分别有16个家庭的孩子患有CF和CRMS/CFSPID。两组的焦虑和抑郁值都很高，创伤影响分量表（回避、侵入性和过度唤醒）的测量值也是如此。各自的父母都认为孩子的健康状况近乎良好。
我们的结果表明，与明确诊断的孩子的父母相比，CF诊断不确定的孩子的父母会受到负面心理影响，包括情绪和情感表现。
