Risoleo Maria Cristina, Siciliano Margherita, Vetri Luigi, Bitetti Ilaria, Di Sessa Anna, Carotenuto Marco, Annunziata Francesca, Concolino Daniela, Marotta Rosa
Department of Medical and Surgical Sciences, University "Magna Graecia", 88100 Catanzaro, Italy.
Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health, Physical and Preventive Medicine, University of Campania "Luigi Vanvitelli", 81100 Caserta, Italy.
Children (Basel). 2022 Oct 31;9(11):1679. doi: 10.3390/children9111679.
Phenylketonuria (PKU) is a rare congenital disorder caused by decreased metabolism of phenylalanine determining cerebral impairments. If untreated, PKU might lead to intellectual disability, seizures and behavioral disorders. The aim of this study is to provide a characterization of the psychopathological profile of a pediatric population diagnosed with PKU at newborn screening.
an accurate neuropsychological evaluation of 23 patients (aged 8-18 years) with hyperphenylalaninemia (defined as experimental group, EG) and in 23 age-matched healthy controls (defined as control group, CG) was performed using the Child and Adolescent Behavior Inventory (CABI) and Self-Administrated Psychiatric Scales for Children and Adolescents (SAFA) questionnaires.
the CABI test showed significant differences for the sub-scales related to "Irritable mood", "Oppositional-provocative symptoms" and "ADHD" in the EG compared to CG ( = 0.014, = 0.032, and = 0.032, respectively). Patients with hyperphenylalaninemia also presented with significant differences both for anxiety disorder scale and depression scale of SAFA test than controls ( = 0.018 and = 0.009, respectively).
children and adolescents with early diagnosis of PKU showed a psychopathological risk profile characterized by an increased risk of experiencing symptoms such as mood deflection, anxiety, attention deficit, oppositional defiant behavior, and obsessive traits than healthy peers. Our findings highlighted the need of the inclusion of a neuropsychiatric evaluation in the management of these patients to improve their overall quality of life.
苯丙酮尿症（PKU）是一种罕见的先天性疾病，由苯丙氨酸代谢减少所致，可导致脑损伤。若不治疗，PKU可能导致智力残疾、癫痫发作和行为障碍。本研究的目的是对新生儿筛查时被诊断为PKU的儿童群体的心理病理学特征进行描述。
使用儿童和青少年行为量表（CABI）以及儿童和青少年自评精神量表（SAFA）问卷，对23例高苯丙氨酸血症患者（年龄8 - 18岁，定义为实验组，EG）和23例年龄匹配的健康对照者（定义为对照组，CG）进行了准确的神经心理学评估。
与CG组相比，CABI测试显示EG组在与“易怒情绪”、“对立 - 挑衅症状”和“注意力缺陷多动障碍”相关的子量表上存在显著差异（分别为 = 0.014、 = 0.032和 = 0.032）。高苯丙氨酸血症患者在SAFA测试的焦虑症量表和抑郁症量表上也比对照组存在显著差异（分别为 = 0.018和 = 0.009）。
早期诊断为PKU的儿童和青少年表现出一种心理病理学风险特征，即与健康同龄人相比，出现情绪偏差、焦虑、注意力缺陷、对立违抗行为和强迫特质等症状的风险增加。我们的研究结果强调了在这些患者的管理中纳入神经精神评估以改善其整体生活质量的必要性。
