Bani Marco, Russo Selena, Gasperini Serena, Crescitelli Viola, Menni Francesca, Furlan Francesca, Tagliaferri Francesco, Cefalo Graziella, Paci Sabrina, Banderali Giuseppe, Marchisio Paola, Biondi Andrea, Strepparava Maria Grazia
School of Medicine and Surgery, University of Milan-Bicocca, Milano, Italy
School of Medicine and Surgery, University of Milan-Bicocca, Milano, Italy.
BMJ Paediatr Open. 2024 Dec 12;8(1):e003103. doi: 10.1136/bmjpo-2024-003103.
Receiving communication of positivity for metabolic diseases at Expanded Newborn Screening can be extremely stressful for parents, both in case of false positive and true positive cases. However, little is known about the predictors of distress and differential impact on mothers and fathers.
In this longitudinal study, 169 fathers and 171 mothers referred to one of the Italian metabolic centres for communication of positivity completed a survey including General Health Questionnaire-12, Emotion Thermometers (measuring stress, anxiety, depression, anger and need for help), Impact of Event Scale-Revised, Multidimensional Scale of Perceived Social Support and Emotion Regulation Questionnaire. Perceived severity and control of the children's health were also assessed. The survey was completed in person after the first session at metabolic centres and online after 1, 3 and 6 months.
Nearly 80% of parents reported a clinical level of distress and anxiety after the communication of positivity, one-third of them reported post-traumatic symptoms and more than half of parents reported a need for help. After 6 months, there are still more than 30% of parents with a clinical level of distress and anxiety, 6% with post-traumatic symptoms and more than 20% who continue to express a need for help. No gender difference was reported and no differences emerged between pre-COVID-19 and post-COVID-19 periods for parental distress and post-traumatic symptoms.Social support, perceived severity and control of the child's health-but not gender or previous parental experience-predicted the post-traumatic symptoms at baseline while at 6 months the only significant predictor was perceived severity.
Adequate psychological support should be provided from the initial communication for both parents and for true positive, false positive and variants of uncertain significance/heterozygous carrier cases.
在扩大新生儿筛查中收到代谢疾病阳性结果的通知，对父母来说可能会造成极大的压力，无论是假阳性还是真阳性情况。然而，关于困扰的预测因素以及对父母双方的不同影响，我们知之甚少。
在这项纵向研究中，169名父亲和171名母亲前往意大利的一个代谢中心接受阳性结果通知，并完成了一项调查，包括一般健康问卷-12、情绪温度计（测量压力、焦虑、抑郁、愤怒和求助需求）、事件影响量表修订版、感知社会支持多维量表和情绪调节问卷。还评估了对孩子健康的感知严重程度和控制情况。该调查在代谢中心的第一次就诊后亲自完成，并在1个月、3个月和6个月后通过在线方式完成。
近80%的父母在收到阳性结果通知后报告有临床水平的困扰和焦虑，其中三分之一报告有创伤后症状，超过一半的父母报告有求助需求。6个月后，仍有超过30%的父母有临床水平的困扰和焦虑，6%有创伤后症状，超过20%的父母继续表示有求助需求。未报告性别差异，在新冠疫情前和疫情后时期，父母的困扰和创伤后症状也没有差异。社会支持、对孩子健康的感知严重程度和控制情况——而非性别或之前的育儿经验——在基线时预测了创伤后症状，而在6个月时，唯一显著的预测因素是感知严重程度。
从最初的沟通开始，就应为父母以及真阳性、假阳性和意义不确定的变异/杂合子携带者情况提供充分的心理支持。
