Baglioni Valentina, Bozza Fabiola, Lentini Giuliana, Beatrice Annachiara, Cameli Noemi, Colacino Cinnante Elisa Maria, Terrinoni Arianna, Nardecchia Francesca, Pisani Francesco
Child Neurology and Psychiatry Unit, Department of Human Neuroscience, Sapienza University, Via dei Sabelli 108, 00185 Rome, Italy.
J Clin Med. 2024 Apr 10;13(8):2190. doi: 10.3390/jcm13082190.
: Inherited metabolic disorders (IEMs) can be represented in children and adolescents by psychiatric disorders. The early diagnosis of IEMs is crucial for clinical outcome and treatment. The aim of this review is to analyze the most recurrent and specific psychiatric features related to IEMs in pediatrics, based on the onset type and psychiatric phenotypes. Following the PRISMA Statement, a systematic literature review was performed using a predefined algorithm to find suitable publications in scientific databases of interest. After removing duplicates and screening titles and abstracts, suitable papers were analyzed and screened for inclusion and exclusion criteria. Finally, the data of interest were retrieved from the remaining articles. The results of this study are reported by type of symptoms onset (acute and chronic) and by possible psychiatric features related to IEMs. Psychiatric phenomenology has been grouped into five main clinical manifestations: mood and anxiety disorders; schizophrenia-spectrum disorders; catatonia; eating disorders; and self-injurious behaviors. The inclusion of a variety of psychiatric manifestations in children and adolescents with different IEMs is a key strength of this study, which allowed us to explore the facets of seemingly different disorders in depth, avoiding possible misdiagnoses, with the related delay of early and appropriate treatments.
遗传性代谢紊乱（IEMs）在儿童和青少年中可能表现为精神障碍。IEMs的早期诊断对临床结果和治疗至关重要。本综述的目的是根据发病类型和精神表型，分析儿科中与IEMs相关的最常见和特定的精神特征。按照PRISMA声明，使用预定义算法进行系统的文献综述，以在感兴趣的科学数据库中找到合适的出版物。在去除重复项并筛选标题和摘要后，对合适的论文进行分析，并根据纳入和排除标准进行筛选。最后，从其余文章中检索感兴趣的数据。本研究结果按症状发作类型（急性和慢性）以及与IEMs相关的可能精神特征进行报告。精神现象学已被分为五种主要临床表现：情绪和焦虑障碍；精神分裂症谱系障碍；紧张症；饮食障碍；以及自我伤害行为。本研究的一个关键优势在于纳入了患有不同IEMs的儿童和青少年的多种精神表现，这使我们能够深入探索看似不同的障碍的各个方面，避免可能的误诊以及早期和适当治疗的相关延误。
